Schizophrenia Spectrum and Other Psychotic Disorders

Schizophrenia-symptoms are variable and include changes in perception, emotion, cognition,
thinking, & behavior. The effects of these manifestations vary by person and can change over
time, but the illness is always severe and is usually long-lasting. Onset is typically before age
25. Affects people of all socioeconomic backgrounds. Patients and families tend to suffer poor
care due to lack of knowledge of schizophrenia. It is one of the most common of the serious
mental disorders but its essential nature remains unclear. Sometimes it is referred to as a
syndrome, the schizophrenias or the schizophrenia spectrum. There is no lab testing for
schizophrenia.
History-Symptoms of schizophrenia have been documented throughout history. Early Greek
physicians noted patients with delusions of grandeur, paranoia, and deterioration in cognitive
function and personality. It wasn’t until the 19th Century that schizophrenia became a medical
condition worthy of being studied.
Benedict Morel (1809-1873)-coined the term demence precoce- to identify deterioration in
patients who illness began in adolescence
Emil Kraepelin (1856-1939)-Identified dementia precox (from demece precoce)-a condition
that identified an early onset change in cognition identified with hallucinations and delusions.
He also distinguished manic and depressive episodes as well as paranoia
Eugene Bleuler coined the term schizophrenia (replacing dementia precox). He chose the term
for the schisms in the thoughts, behaviors, and emotions of the patients. He chose phrenia
because he did not believe the disorder was associated with dementia. Schizophrenia is often
misconstrued by lay people as multiple personality disorder, which is a separate disorder
(schism-can mean split or division, but it can also mean differences in which he was describing
the differences). 4As: Associations, Affect, Autism, Ambivalences. Secondary (Accessory):
hallucinations, delusions
Ernst Kretschmer (1888-1926)- compiled data to support the idea that people with
schizophrenia were more slender, athletic, and dysplastic body types rather than those with short,
stocky physiques.
Kurt Schneider (1887-1967)- contributed a description of first-rank symptoms, which he
stressed should not be rigidly applied. He stated that diagnoses should not be based solely on
first-rank symptoms but if a patient presented with no first-rank symptoms, second-rank
symptoms and clinical appearance should be observed.
Karl Jaspers (1883-1969)-psychiatrist and philosopher played a major role in developing
existential psychoanalysis. His work paved the way to understand the psychological meaning of
schizophrenic signs and symptoms of delusions and hallucinations.
Adolf Meyer (1866-1950)- founder of psychobiology saw schizophrenia as a reaction to life
stresses. It was a maladaptation that was understandable in terms of the patient’s life experiences.
Meyer’s view was represented in the nomenclature of 1950s, which was referred to the
schizophrenic reaction. In later editions of DSM the term reaction was dropped.
Epidemiology-The presence of Schizophrenia in the US is 1/100 or 1%. NIH reports the US
lifetime percent is 0.6-1.9%. Total population lifetime percent is 0.5% in a single year. Only
about half of those with schizophrenia will obtain treatment, despite the severity.
Gender and Age-Schizophrenia affects men and women equally. However, onset usually occurs
earlier in men. Peak ages are 10-25 for men and 25-35 for women. Nearly 1/3 of all female
schizophrenia patients are first diagnosed with hospitalizations. 3-10% of women onset after age
40. 90% of patients onset between 10-55 years of age. It is very rare to present before age 10 or
after age 60, regardless of gender. In general, females typically have a better outcome than
males.
Reproductive Factors-first-degree relatives have a 10x greater risk of developing schizophrenia
than the general population.
Medical Illness- people will schizophrenia have a higher mortality rate from accidents and
natural causes than the general population. Studies show that up to 80% of schizophrenia patients
have concurrent medical illnesses and up to 50% of these conditions may be undiagnosed.
Infection and Birth Season- People who develop schizophrenia are more likely to be born
during the winter or early spring and less likely to be born during late spring or summer.
Northern Hemisphere people with schizophrenia are more likely to be born January to April.
Southern Hemisphere people with schizophrenia are more likely to be born July-September.
Season-specific changes, such as infections, influenza, viral infections, epidemics, diet changes,
maternal starvation during pregnancy, rhesus factor incompatibility, and genetic predisposition.
Substance Abuse- Substance abuse occurs commonly in schizophrenia. Tobacco use occurs in
greater than 50%, alcohol abuse in 40%, cannabis over 50%. Nicotine dependency occurs in up
to 90% of schizophrenic patients.
Population Density- The incidence of schizophrenia in children with 1-2 parents with
schizophrenia is twice as high in cities as it is in rural areas. This suggests the social stressors in
urban settings may influence the development of schizophrenia in at-risk persons.
Socioeconomic & Cultural Factors- Schizophrenia is a life-long illness. Patients with
schizophrenia account for 15%-45% of the homeless population in America. Development of
effective antipsychotic medication, treatment, and better rights for persons with mental illness
since the mid 1950s has improved the view of mental illness. Patients with schizophrenia
occupy 50% of mental health hospital beds and 16% of psychiatric patients receiving treatment.
Etiology- genetic contribution accounts for some, if not all, of cases. Some studies suggest the
age of the father correlates with development of schizophrenia citing those born to fathers over
age 60 were at a greater risk for developing schizophrenia.
Biochemical Factors
Dopamine Hypothesis- hypothesizes that schizophrenia results from too much dopaminergic
energy. Excessive dopamine in patients with schizophrenia has been linked to more severe
psychotic symptoms. There have been reports of increased dopamine in the amygdala, decreased
density of dopamine transporter, and increased numbers of dopamine type 4 receptors in the
entorhinal cortex.
Serotonin-current hypothesis suggest excess serotonin causes positive and negative
schizophrenia symptoms. Clozapine and other 2nd gen antipsychotics coupled with the
effectiveness of clozapine to decrease positive sx in chronically ill patients, contributing to the
validity of this proposition.
Norepinephrine-anhedonia (the inability to feel emotion or pleasure) is a noted feature of
schizophrenia. A neuronal degeneration of norepinephrine has been linked to this.
Pharmacological & biochemical data to support this theory is inconclusive.
GABA- has been implicated. GABA in the hippocampus leads to hyperactivity of dopaminergic
neurons.
Neuropeptides- (substance P & neurotensin) in the catecholamine & indolamine
neurotransmitters influence the actions of these neurotransmitters.
Glutamate- implicated bc ingestion of phencyclidine, a glutamate antagonist, produces an acute
syndrome similar to schizophrenia. The hypotheses proposed include those of hyperactivity,
hypoactivity, & glutamate-induced neurotoxicity.
Acetylcholine and Nicotine- postmortem studies indicate decreased muscarinic and nicotinic
receptors in the caudate-putamen, hippocampus, and selected regions of the prefrontal cortex.
These receptors play a role in regulation of neurotransmitter systems involved in cognition,
which is impaired in schizophrenia.
Neuropathology-In the 19th century, neuropathologists failed to identify a neuropathological
cause for schizophrenia, so they classified it as a functional disorder. By the end of the 20th
century, researchers had made significant strides in revealing a neuropathological cause￾predominantly in the limbic system & basal ganglia (in the cerebral cortex, thalamus, and
brainstem). Loss of brain volume appears to result from reduce density of the axons, dendrites,
and synapses that mediate associative functions of the brain. Synaptic density is highest at 1
year and then pares down to adult values in early adolescence.
Cerebral Ventricles- CT scans consistently show lateral and 3rd ventricular enlargement and
some reduction in cortical volume. Reduced volume of cortical gray matter has been indicated in
the early stages of the disease. Some studies indicate that lesions present on CT are present at the
onset of the illness and do not progress throughout the disease process.
Reduced Symmetry- Reduced symmetry has been noted in several areas of the brain with
schizophrenia: temporal, frontal, and occipital lobes. This is believed to have originated during
fetal life.
Limbic system- because of the role of the limbic system in emotional control, the limbic system
is indicated in the development of schizophrenia. Post-mortem studies show decrease in the size
of the region (including amygdala, hippocampus, and parahippocampal gyrus). MRI indicates the
hippocampus is also functionally abnormal with glutamate distribution disturbances noted.
Disorganized neurons are also noted in the hippocampus.
Prefrontal Cortex- considerable evidence from postmortem studies on the brain indicate
anatomical abnormalities in the prefrontal cortex. Functional deficits mimic those who have had
prefrontal lobotomies or prefrontal lobe syndromes.
Thalamus- some evidence points to thalamus shrinkage or neuronal reduction by 30-40%. This
appears to be due to effects of antipsychotic medication AEB those with schizophrenia
chronically treated with medication have similar sized thalamus to those with neuroleptic-naïve
subjects.
Basal Ganglia and Cerebellum- bc people with schizophrenia can have awkward movements,
facial grimacing, and odd gaits, the basal ganglia and cerebellum are implicated. They control
movement. Studies have shown increased D2 receptors in the caudate, putamen, & nucleus
accumbens. The question is, is the increased D2 receptors due to antipsychotic medication?
Neural Circuits- Rather than look at schizophrenia as a disorder affecting specific areas of the
brain, this perspective views it as a disorder involving neuronal circuits of the brain. Early
developmental lesions of the dopaminergic tracts to the prefrontal cortex results in disturbances
of the prefrontal and limbic system function resulting in positive and negative symptoms
associated with schizophrenia. The observation of the disturbance between the prefrontal and
limbic system demonstrates a relationship with hippocampal morphological abnormalities &
disturbances in prefrontal cortex metabolism. Data suggests that this circuit involvement is
responsible for the hallucinations associated with schizophrenia.
Brain Metabolism- lower levels of phomonoester and inorganic phosphate and higher levels of
phosphodiester noted with schizophrenia. Lower levels of N-acetyl aspartate in the hippocampus
and frontal lobes as well.
Applied Electrophysiology- schizophrenia patients have more sensitivity to activation
procedures (spike in activity after sleep deprivation), decreased alpha activity, increased theta
and delta activity, likely more epileptiform activity, and more left-sided abnormalities. These
patients may not have the ability to filter out background noise, which may contribute to auditory
hallucinations.
Complex partial epilepsy-schizophrenia-like psychoses have been reported more frequently in
patients with complex partial seizures. Associated factors include left-sided seizure focus, medial
temporal location of the lesion, and early onset of seizures.
Evoked potentials- the P300 has been identified as a large, positive evoked-potential wave that
occurs about 300 milliseconds after a sensory stimulus is detected. The P300 wave is located in
the limbic system structures of the medical temporal lobes. In patients with schizophrenia, the
P300 has been noted to be significantly smaller. It is also noted to be significantly smaller in
children who, bc they have affected parents, are at higher risk for schizophrenia. Other evoked
potentials for schizophrenia are N100 and contingent negative variation.
Eye movement dysfunction- inability to follow a moving visual target accurate is seen in 50-
85% of patients with schizophrenia, 25% of patients with other psychiatric illnesses, and less
than 10% of nonpsychiatrically ill individuals
Psychoneuroimmunology-decreased T cells interleukin-2 production, reduced number and
response of peripheral lymphocytes, abnormal cellular and humoral reactivity to neurons, and
presence of brain-directed (antibrain) antibodies. The possibility of autoimmune brain antibodies
has some data to support it.
Psychoneuroendocrinology- persistent nonsuppression of dexamethasone-suppression test in
schizophrenia is correlated with poor long-term outcomes. Some data also suggests decreased
concentrations of luteinizing hormones or follicle-stimulating hormone (could be correlated with
age of onset and length of illness). Two additional abnormalities: blunted release of prolactin &
growth hormone on gonadotropin-releasing hormone or thyrotropin-releasing hormone
stimulation & blunted release of growth hormone on apomorphine stimulation.
Psychosocial & Psychoanalytic Theories- clinicians should consider psychosocial and
biological factors affecting schizophrenia. It is a disease of the brain and should be paralleled to
other diseases affecting other organs.
Psychoanalytic Theories-all propose psychotic symptoms have meaning. Sigmund Freud
postulated schizophrenia results from developmental fixations early in life. Margaret Mahler
postulates insecure identity from infancy. The child is never able to separate from mother. Paul
Federn postulates a defect in ego functions and that intense hostility and aggression distort
infant-mother relationship which leads to personality disorganization and vulnerability to stress.
This comes evident in adolescence when the teens need a strong ego to function independently.
Harry Stack Sullivan postulated various symptoms have significant meaning for the patient ie
hallucinations may stem from inability to deal with objective reality.
Learning Theories- children learn irrational reactions and ways of thinking by imitating parents
with significant emotional problems.
Family Dynamics- a study of British 4 year olds had a 6-fold increase of developing
schizophrenia when the child had a poor mother-child relationship. Offspring of schizophrenic
parents were more inclined to develop schizo when raised in adverse circumstances as compared
to those raised in loving homes with stable parents and relationships.
Double-blind-formulated by Gregory Bateson & Donald Jackson. Children withdraw to escape
the confusion of double-blind ie parent encourages child to share cookies with friends during
playdate, then chastises for eating/sharing too many cookies.
Schisms & Skewed Families- Theodore Lids described family schisms as one parent who is
abnormally close to one child of the opposite gender. A skewed family describes a power
struggle between parents that results in one parent being the dominant power. These dynamics
stress the tenuous adaptive capacity of the patient with schizophrenia.
Pseudomutual and Pseudohostile Families- Lyman Wynne says some families surpress
emotional expression with pseudomutual or pseudohostile verbal communication. When the
child leaves the home, he has problems communicating and relating to others.
Expressed Emotion- Families with high emotional expression have high levels of relapse for
schizophrenia patients.
Diagnosis: Diagnosis is based on the DSM-5 with several options with specifiers for clinicians
to detail symptoms.
Subtypes:
Paranoid-characterized by preoccupation with one or more delusions or frequent auditory
hallucinations as well as delusions of persecution or grandeur. Usually occurs at a later age than
catatonic schizophrenia or disorganized.
Disorganized-Marked regression to primitive disinhibition, and unorganized behavior, and lack
of symptoms to meet catatonic type. Onset usually before age 25. Disorganized, aimless,
nonproductive. Appear disheveled. Social and emotional responses are inappropriate.
Catatonic- previously common several decades ago is now rare in Europe & North America.
Marked disturbance in motor function (stupor, negativism, rigidity, excitement, or posturing).
Mutism is common. May show rapid alterations in extremes of excitement and stupor. Need
careful supervision bc of malnutrition, hyperpyrexia, exhaustion, and self-inflected injury.
Undifferentiated-when the patient does not easily fit into another category, he is categorized as
undifferentiated type.
Residual-continuing evidence of the schizophrenic disturbance in the absence of a complete set
of active symptoms or sufficient symptoms to meet the diagnosis of another type. Emotional
blunting, social withdrawal, eccentric behavior, illogical thinking, and mild loosening of
associations are common among residual type. When delusions or hallucinations occur, they are
neither prominent nor accompanied by strong affect.
Other Subtypes
Bouffée Délirante (acute delusional psychosis)-French diagnosis differs based on symptom
duration of less than 3 months. Similar to DSM-5 dx schizophreniform disorder. French
clinicians report approximately 40% of their Bouffée Délirante patients will eventually be
classified as having schizophrenia.
Latent-developed during a time when theorists conceived the disorder in broad diagnostic terms.
Only patients who were severely ill with schizophrenia symptoms would be diagnosed with
schizophrenia. Patients who presented with more mild symptoms (peculiar behaviors or thought
disorders without psychotic symptoms) were given the diagnosis of Latent schizophrenia. These
patients are who would now be diagnosed as borderline, schizoid, and schizotypal personality. In
the past, the syndrome was also called borderline schizophrenia.
Oneiroid- refers to a dream-like state in which patients may be deeply perplexed and may not be
fully oriented to time & place. Has been used to describe patients who are engaged in their
hallucinatory experiences to escape involvement in the real world.
Paraphrenia-sometimes used synonymously with paranoid schizophrenia or for either a
progressively deteriorating course of illness or the presence of a well-systemized delusional
system. The multiple meanings make it ineffective for accurately communicating information.
Psuedoneurotic Schizophrenia-characterized by patients who initially have anxiety, phobias,
obsessions, and compulsions and later reveal thought disorders and psychosis. These patients are
characterized by pananxiety, panphobia, panambivilance, and sometimes chaotic sexuality.
Pseudoneurotic patients have free-floating anxiety that rarely subsides. They seldom become
overtly and severely psychotic. This condition is currently dx as borderline personality disorder.
Simple Deteriorative Disorder (Simple Schizophrenia)-gradual, insidious loss of drive and
ambition. Typically patients are not overly psychotic and do not experience persistent
hallucinations or delusions. Primary symptom is withdraw from work or social situations. Must
be differentiated from depression, a phobia, dementia, or an exacerbation of a personality trait.
Postpsychotic Depressive Disorder of Schizophrenia-after an acute schizophrenia episode,
some patients become depressed. These symptoms can resemble residual schizophrenia as well
as medication side effects to treat the acute episode. Careful consideration and assessment must
be done. This occurs in nearly 25% of patients with schizophrenia and are associated with
increased risk for suicide.
Early-Onset Schizophrenia- a small minority of people develop symptoms of schizophrenia in
childhood. Symptoms used to diagnose childhood schizophrenia are the same as adult. The
prognosis is mostly unfavorable for those diagnosed in childhood.
Late-Onset Schizophrenia-diagnosed after 45 years of age. Trends more in females than males.
Typically characterized by paranoid symptoms. Prognosis is favorable and they tend to do well
on antipsychotic medication.
Deficit Schizophrenia- in the 1980s patients who presented with idiopathic negative
schizophrenia symptoms were identified as deficit schizophrenia patients. Those who presented
with positive symptoms were said to have nondeficit schizophrenia. Deficit patients have a more
severe course of illness with a higher prevalence of abnormal involuntary movements and poorer
social functioning before onset of psychotic symptoms. Six features (restricted affect, diminished
emotional range, poverty of speech, curbing of interests, diminished sense of purpose,
diminished social drive). Less long-term recovery of function & less likely to marry. Decreased
risk of depression and suicide. Associated with summer births, greater familial risk, and higher
prevalence in men. Their cognitive impairment, lack of motivation, lack of distress, and asocial
nature affects their ability to adhere to medication regimen and achieve remission of symptoms.
Psychological Testing: typically perform poorly on neuropsychological tests. Vigilance,
memory, and concept formation are most affected & are consistent with pathological
involvement in the frontotemporal cortex.
Intelligence Tests: Patients who have schizophrenia typically perform lower on intelligence
tests. Lower intelligence is typically presented at onset and continues to deteriorate throughout
the progression of the disorder.
Projective and personality tests: Projective tests such as Rorschach and the Thematic
Apperception may indicate bizarre ideation. Personality inventories, like Minnesota Multiphasic
Personality Inventory often gives abnormal results in persons with schizophrenia but the
contribution to diagnosis and treatment plan is minimal.
Clinical Features- (3 key issues)
1. No clinical sign or symptom is pathognomonic for schizophrenia-every sign or symptoms
occurs in other psychiatric and neurologic disorders. Patient’s history is essential for
diagnosis.
2. A patient’s symptoms change with time.
3. Clinicians must take into account the patient’s educational level, intellectual ability, and
cultural and subcultural membership.
Premorbid Signs and Symptoms-Appear before the prodromal phase of the illness (meaning
they appear before the disease process presents itself). These may be few friends during
childhood, or avulsion to social activities, or somatic complaints (headache, back or muscle pain,
weakness, digestive problems). Initial diagnosis may be chronic fatigue syndrome, malingering,
or somatization disorder. Family & friends may notice the person no longer functions well in
social, occupational, and personal activity settings. During this time, he may develop an interest
in abstract ideas, philosophy, and the occult. SX include peculiar behavior, abnormal affect,
unusual speech, bizarre ideas, and strange perceptual experiences.
Mental Status Examination- Appearance can range from disheveled and ungroomed, agitated,
screaming, to obsessively groomed and completely silent or anywhere in between. Patients with
schizophrenia are often poorly groomed, unbathed, and dressed overly warm for the temperatures
(dressed in layers). Other odd behaviors include tics, stereotypies, mannerisms, and occasionally
echopraxia (imitating the posture or behavior of the examiner).
Precox Feeling-some experienced clinicians report a precox feeling, an intuitive experience of
their inability to establish an emotional rapport with a patient. The feeling is common but there is
no reliable date linking it to schizophrenia
Mood, Feelings, & Affect- 2 common affective symptoms
1. Reduced emotional responsiveness (anhedonia if severe enough)
2. Overly active and inappropriate emotions (rage, happiness, anxiety)
Other feeling tones include perplexity, sense of isolation, overwhelming ambivalence,
depression, blunted affect.
Perceptual Disturbances:
Hallucinations-Any of the 5 sense can be affected by hallucinations. The most common
hallucination is auditory-hearing threatening, obscene, accusatory, or insulting voices. 2 or more
voices may talk among themselves and even comment on the patient’s life choices or behaviors.
Visual hallucinations are also common. Tactile, olfactory, and gustatory hallucinations are
uncommon and the clinician should look for an underlying medical or neurological cause.
Cenesthetic Hallucinations- unfounded sensations of altered states in bodily organs ie burning
sensation in the brain or bodily distortions.
Illusions-are distortions of real images. Whereas hallucinations are not based on real sensations.
Thought- thought disorders are the most difficult symptoms for many clinicians & students to
understand but they are the core of schizophrenia. Dividing thought content, form of thought,
and thought process helps to clarify them.
Thought Content-reflects the persons ideas, beliefs, and interpretations of stimuli. Delusions are
the most obvious example of a disorder of thought content. Some experience persecutory,
grandiose, religious, or somatic forms. Loss of ego boundaries. They can believe they control the
sun, or aliens are controlling them, the television/radio, is referring to them, etc.
Form of Thought- objectively observable in patents spoken and written language. Loose
association, derailment, incoherence, tangentiality, circumstantiality, neologisms, echolalia,
verbigeration, work salad, and mutism. This can be evident with preoccupation with religion and
religious views, mixed with philosophy.
Thought Process- concerns the way ideas and language are formulated. Examiner infers a
disorder based on how the patient speaks, writes, or draws. Examiner can also examine thought
process based on behavior, especially with discrete tasks (OT). Disorders of thought include
flight of ideas, thought blocking, impaired attention, poverty of thought content, poor abstraction
abilities, perseveration, idiosyncratic associations (identical predicates, clang associations),
overinclusion, and circumstantiality. Patients think others can read their minds, or ther thoughts
are broadcast on television or radio.
Impulsiveness, Violence, Suicide, & Homicide- patients with schizophrenia may be agitated
and have little self-control when ill. Some can exhibit impulsive behaviors like smoking cigarette
butts from a can to physical violence.
Violence- violent behavior is common among untreated schizophrenia. Delusions of persecutory
nature, previous episodes of violence, and neurological deficits are precursors for violent or
impulsive behaviors. If a clinician feels fearful of a patient, it could be a precursor of a patient on
the verge of a violent outburst. In such cases, terminate the interview or have an attendant
present.
Suicide- Single-leading cause of premature death among people with schizophrenia. Suicide
attempts are made by 25-50% of patients with long-term rates of suicide estimated to be 10-13%.
According to the DSM-5 suicide rate of patients with schizophrenia is 5-6%. 2/3 or more of
schizophrenia patients who commit suicide have seen an apparently unsuspecting clinician
within 72 hours of death. Up to 80% of patients with schizophrenia will experience a depressive
episode. Those at greatest risk are young males who had high expectations, declined from a
higher level of functioning, realizes that his dreams are not likely to come true, and has lost faith
in the effectiveness of treatment. Clozaril may be particularly effective in reducing suicidal
ideation in schizophrenia patients.
Homicide-when a patient with schizophrenia does commit murder, it may be for bizarre reasons
based on hallucinations or delusions. Possible predictors of homicide include history of previous
violence, dangerous behavior while hospitalized, and hallucinations or delusions involving such
violence.
Sensory & Cognition:
Orientation-Typically oriented to person, place, and time. Lack of such orientation should
prompt further medical and neurological investigation. Some patients with schizophrenia may
give bizarre answers, ie, “I am Jesus Christ, this is Heaven, AD 35”
Memory- Memory is usually intact with some minor cognitive deficiencies. It may not be
possible to get the patient to focus enough to test the memory adequately.
Cognitive Impairment- Cognitive impairment is one of the classic traits of schizophrenia.
Patients with schizophrenia tend to exhibit subtle cognitive dysfunction in the domains of
attention, executive function, working memory, and episodic memory. By the time the first
episode is experienced, cognitive impairment is present. Although a substantial number of
patients with schizophrenia show an average IQ, it is possible that they have cognitive
impairment compared to what they could have accomplished/level of functioning without
schizophrenia. Cognitive impairments have become the focus of pharmacological and
psychosocial treatments.
Judgment & Insight-classically described as having poor judgment and insight into the nature
and severity of their disorder. This creates poor compliance with treatment. When interviewing,
define various aspects of insight such as relationships and getting along with people, awareness
of symptoms, reasons for these problems.
Reliability- a patient with schizophrenia is no less reliable than other patients, however, the
important data given should be verified through additional sources.
Somatic Comorbidity:
Neurological Findings- localized and nonlocalized findings have been reportedly more common
in people with schizophrenia than other psychiatric disorders. Nonlocalized signs include
dysdiadochokinesia, astereognosis, primitive reflexes, and diminished dexterity. The presence of
symptoms correlates with increased severity of illness and poorer prognosis. Other abnormal
neurological signs include tics, stereotypies, grimacing, impaired fine motor skills, abnormal
motor tone, and abnormal movements. Only about 25% of patients are aware of their own
abnormal involuntary movements. Lack of awareness is correlated with lack of insight about
primary psychiatric disorder and duration of illness.
Eye Examination- in addition to the disorder of the smooth ocular pursuit (saccadic movement),
patients with schizo have an increased blink rate. It is believed to reflect hyperdopaminergic
activity.
Speech- although speech disorders in schizo are thought to be reflective of thought disorders,
they may also indicate a forme fruste of aphasia, perhaps implicating the dominant parietal lobe.
Inability to perceive the prosody of speech or inflect their own speech can be seen as a
neurological symptom stemming from the nondominant parietal lobe. Other parietal lobe-like
symptoms can include inability to carry out tasks (apraxia), right-left disorientation, and lack of
concern regarding the disorder.
Other Comorbidity:
Obesity-Patients with schizophrenia tend to be more obese with higher BMIs than their gender￾matched cohorts. This is believed to be due to antipsychotic medication, poor nutritional balance,
and decreased motor activity. Obesity tends to increase risk of cardiovascular morbidity and
mortality as well as diabetes and other obesity-related conditions.
Diabetes Mellitis-associated with increased risk of DM r/t obesity and partly due to
antipsychotic medication
Cardiovascular Disease- antipsychotic medications have direct effect on cardiac
electrophysiology. In addition to obesity, increased rates of smoking, DM, hyperlipidemia, and
sedentary lifestyle all contribute.
HIV- Increased risk of HIV (1.5-2x of the general population) due to behaviors such as
unprotected sex, multiple partners, and drug use.
COPD- increased compared to the general population r/t increased prevalence of smoking.
Rheumatoid Arthritis- 1/3 risk of RA that is found in general population. This inverse
association has been replicated several times and the significance is unknown.
Differential Diagnosis:
Secondary Psychotic Disorders-A wide range of psychiatric and nonpsychiatric disorders can
cause symptoms of psychosis and catatonia.
1. clinician should explore an undiagnosed nonpsychiatric diagnosed medical condition for
an abrupt change in the patient’s condition or for any rare or unusual symptoms.
2. obtain a complete family history including medical, neurological, and psychiatric
disorders
3. clinicians should consider nonpsychiatric causes even with patients previously diagnosed
with schizophrenia because a patient with schizophrenia has the same odds of developing
a brain tumor as someone without schizophrenia
Other Psychotic Disorders-psychotic symptoms of schizophrenia can be identical to other
psychotic disorder. The differentiating factor could be the length of time the patient is affected
by the psychosis or trauma preceding the psychosis.
Mood Disorders- Patients with depression can present with delusions and hallucinations.
Delusions seen with mood disorders, like depression are typically mood congruent and involve
themes like guilt, deserved punishment, self-depreciation, and incurable illness. In mood
disorders, psychotic symptoms resolve with resolution of depression. A depressive episode can
be severe enough that the patient withdraws and socially isolates, has loss in functioning, and
decline in self-care, but these are all directly related to the depression. A full-blown manic
episode often presents with delusions and sometimes hallucinations. Delusions in mania are
most-often mood-congruent & typically involve grandiose themes. Special attention during
examination of a patient with flight of ideas is required to note whether the associative links
between topics are conserved, although the conversation is difficult for the observer to follow r/t
patient’s accelerated rate of thinking.
Personality Disorders- various personality disorders may have some features of schizophrenia
(borderline personality disorder, schizoid, schizotypal). Severe OCD may mask an underlying
schizophrenic process. Unlike schizophrenia, personality disorders have mild symptoms,
historically occur throughout a patient’s life, and lack an identifiable date of onset.
Malingering and Factitious Disorders- A patient who imitates the symptoms of schizophrenia
but does not have the disorder, is malingering or factitious. Malingering individuals will present
with schizophrenia-like symptoms which can be controlled. They typically have a financial or
legal motivation behind their actions. Factitious patients don’t have as much control over their
false symptoms.
Course & Prognosis:
Course- premorbid pattern of symptoms may be the first evidence of illness (although it is
usually only recognized retrospectively). Symptoms usually begin in adolescence and are
followed by the development of prodromal symptoms in days to a few months. Social or
environmental changes (going away to college, death of relative) may precipitate the disturbing
symptoms and the prodromal syndrome may last a year or more before onset of overt psychotic
symptoms. Classic course entails exacerbations and remissions. Over time functionality
gradually declines and the patient fails to return to their baseline functioning. Positive symptoms
tend to become less severe with time but socially debilitating negative symptoms or deficit
symptoms may increase in severity. 1/3 of all schizophrenia patients have some marginal or
integrated social existence, most live in and out of hospitals, inactive, homeless, and in urban
settings.
Prognosis- studies show that over a 5-10 year period after first psychiatric hospitalization for
schizophrenia, about 10-20% can be described as having a good outcome. More than 50% are
described as having poor outcome with repeated hospitalizations, exacerbation of symptoms,
major mood disorders, and suicide attempts. Schizophrenia does not always run a glum,
deteriorating course. Several factors contribute to a positive prognosis. Reasonable readmission
rates are 10-60% with estimation of 20-30% living somewhat normal lives. About 20-30%
continue to experience moderate symptoms and 40-60% remain significantly impaired by their
disorder for their entire lives. 20-25% of mood disorder patients are also severely disturbed at
long-term follow-up.
Treatment-antipsychotic medications are mainstay treatment. Psychosocial interventions, like
psychotherapy can augment clinical improvement
Hospitalization-indicated for diagnostic purposes; for stabilization of medications; for patients’
safety r/t suicidal or homicidal ideation; and for grossly disorganized or inappropriate behavior,
including ability to take care of basic needs like food, clothing, and shelter. 4-6 week stays can
be just as effective as long-term hospitalizations. Hospitals with active behavioral approaches
have better outcomes than custodial institutions.
Pharmacotherapy- introduction of chlorpromazine (Thorazine) in 1952 may be the single-most
important contribution to the treatment of a psychiatric illness. Henri Laborit, a surgeon in Paris
noted a reduction in presurgical anxiety with chlorpromazine. Chlorpromazine was shown to
reduce hallucinations and delusions as well as excitement. It was also noted to cause Parkinson￾like side effects. Antipsychotics diminish psychotic symptom expression and reduce relapse
rates. Approximately 70% of patients treated with antipsychotics achieve remission. Older
antipsychotics drugs are called first-generation antipsychotics and newer are called second￾generation antipsychotics (Serotonin dopamine antagonist, or SDA). Clozapine (Clozaril)
discovered in 1958. Studied in 60s. 1976 substantial risk of agranulocytosis. 1990 finally became
available in the USA for those who responded poorly to other agents.
Phases of Treatment in Schizophrenia
Treatment of Acute Psychosis- Requires immediate attention. Focus is on relieving severe
psychosis. Usually lasts 4-8 weeks. Sx may include severe agitation, frightening delusions,
hallucinations, suspiciousness, or can be from other causes such as stimulant abuse. Patients with
akathisia can appear agitate when they experience a subjective feeling of motor restlessness.
Differentiating akathisia from psychotic agitation can be difficult. If patients are receiving an
agent associated with EPSE, usually a 1st generation antipsychotic, a trial with an anticholinergic
anti-parkinson medication, benzodiapine, or propranolol may be helpful to distinguish. To treat
agitation, benzodiazepines and antipsychotics work relatively quickly to calm the patient. IM
medication may be necessary for extremely agitated patients. The advantages of IM
antipsychotic medication (Haldol, fluphenazine, olanzapine, or ziprasidone) is it can result in
calming without the excessive sedation or postural hypotension. IM ziprasidone & olanzapine
are similar to the oral administration in that they do not cause EPSE. Olanzapine also offers a
rapid-dissolving oral tablet (Zydis) as an alternative to IM injections. Benzos are effective to
treat agitation during acute psychosis. Lorazepam has the advantage of reliable absorption when
administered PO or IM. Use of benzos can reduce the amount of antipsychotic medication
necessary to control the psychotic patient.
Treatment During Stabilization & Maintenance Phase- this stage the illness is in relative
remission. The goal is to prevent psychotic relapse and improve level of functioning. Stable
patients who remain on antipsychotics have a lower rate of relapse than those whose medication
is discontinued. 16-23% of patients receiving medication will relapse in 1 year. That number
increases to 53-72% without the use of medication to stabilize psychosis. Stopping medication
increases risks of relapse 5 fold. It is recommended that multi-episode patients receive
maintenance treatment for at least 5 years.
Noncompliance- noncompliance with antipsychotic medication is very high. Estimated 40-50%
of patients become noncompliant within 1-2 years. Compliance increases with use of long-acting
meds over oral meds. Some oral medication supplementation may be required when beginning
long-acting treatment. Long-acting medication also offer better long-term control without the
highs and lows noted with oral medication use.
Strategies for Poor Responders-Approximately 60% of acute schizophrenia patients achieve
complete remission or only experience mild symptoms with antipsychotic medication. The
remaining 40% will improve but still have varying levels of positive symptoms which are
resistant to medication. A reasonable trial is 4-6 weeks. Patients can continue to show steady
improvement for 3-6 months though. Make sure therapeutic blood levels of the drug with
bloodwork. Some people are rapid metabolizers and require stronger or more frequent doses.
Some patients have such severe symptoms that don’t respond to treatment that they will remain
institutionalized. If a patient doesn’t respond well to one SDA, switching to another is not likely
to help. Clozapine has been shown to be effective to treat those who are traditionally poor
responders.
Managing Side Effects-low-potency drugs side effects can be sedation, postural hypotension,
and anticholinergic effects; high-potency drugs are likely to cause extrapyramidal side effects.
Extrapyramidal Side Effects (EPSEs)- Treatment options can be reducing the potency of the
medication causing the EPSEs (most commonly a DRA), adding an anti-parkinson (which is
often only partially effective) & changing the patient to an SDA (anti-parkinson medication can
cause dry mouth, blurred vision, constipation, and memory loss), or adding a centrally-acting
beta blocker, like propranolol (30-90mg/day most commonly used). If conventional
antipsychotics are being used and the patient is likely to experience EPSEs ie patient has a
history of EPSEs, clinician may consider prescribing an antiparkinson agent prophylactically.
Prophylactic antiparkinson meds are also often considered for young males who are prescribed
high-potency medications and are increasingly vulnerable to developing dystonia. If the patient
is highly sensitive to the EPSE at the dose necessary to control psychosis and it is worse for them
than the actual psychosis, those patients should be treated with an SDA because they are less
likely to have EPSE side effects.
Tardive Dyskinesia (TD)-20-30% of patients on long-term DRA treatment will experience TD.
3-5% of young patients receiving DRA develop TD every year. The risk in elderly is much
higher. Seriously disabling dyskinesia is uncommon but TD can affect breathing, walking,
eating, and talking. People wo are sensitive to EPSE are typically sensitive to TD as well. Patient
with comorbid mood or cognitive disorders are also more vulnerable to TD. Onset of TD is
either during treatment, within 4 weeks of stopping oral medication, or within 8 weeks of
stopping depot antipsychotic. Risk of TD is slightly lower with new antipsychotic drugs.
Recommendations to preventing TD: 1. Use lowest dose possible to treat, 2. Use cautiously in
children, elderly, and patients with mood disorders, 3. Examine patients regularly, 4. Consider
alternatives to antipsychotics, 5. Consider other options if TD worsens. Clozaril has been
effective in reducing TD symptoms.
Other Side Effects- low-potency DRAs (like perphenazine)- sedation & postural hypotension
most severe with initial dosing. With clozapine (may require weeks to obtain therapeutic dose)
pts develop a tolerance to sedation and postural hypotension. Sedation may continue to be a
problem as daytime sleeping can affect community life. All DRAs as well as SRAs elevate
prolactin levels, which can result in galactorrhea and irregular menses. Long-term elevations in
prolactin levels can lead to suppression of gonadotropin releasing hormone which can suppress
gonadal hormones decreasing libido and sexual function. Elevated prolactin levels may also
decrease bone density leading to osteoporosis. There is also some concern with elevated
prolactin levels leading to tumors.
Health Monitoring in Patients Received Antipsychotics-Because of SDAs effects on
metabolic metabolism, BMI, fasting glucose, and lipid profiles should be monitored. Pt’s should
be weighed with BMI checked for 6 months after initiating therapy.
Side Effects of Clozapine-serious risk of agranulocytosis can be potentially fatal & occurs in
0.3% of patients treated with clozapine in the 1st year. Patients who are administered clozapine in
the US are required to be in a program with weekly blood monitoring for the first 6 months, then
biweekly for the next 6 months. After 1 year of treatment with no hematologic problems,
monitoring can be moved to monthly. Clozapine is also associated with higher risk of seizures
than other antipsychotics. Nearly 5% of people who are on doses higher than 600mg. IF seizures
develop, decrease the dose and add and antiepileptic agent, like Depakote. Myocarditis occurs in
5/100,000 patients/year. Other side effects include hypersalivation sedation, tachycardia, weight
gain, DM, fever, and postural hypotension.
Other Biological Therapies- Electroconvulsive Therapy (ECT) has been studied in acute and
chronic schizophrenia. Some studies indicate ECT is as effective as antipsychotic medication.
Other studies suggest supplementing ECT with antipsychotic medication. *Pearl of Wisdom*
Monitor for choking and falls when patients return from ECT
Psychosocial Therapies- includes a variety of skills to increase social abilities, self-sufficiency,
practical skills, and interpersonal communication in schizophrenia patients. These treatments can
be done at home, hospitals, outpatient clinics, mental health centers, etc.
Social Skills Training- AKA behavioral skills therapy along with medication therapy, can be
directly supportive and useful. In addition to psychiatric symptoms, patients can have difficulty
communicating and relating to others: poor eye contact, unusual delays in response, odd facial
expressions, lack of spontaneity in social situations, and inaccurate perception or lack of
perception emotions in other people. Behavioral skills addresses these behaviors by using videos,
role playing, and homework assignments. Social skills training has been shown to reduce relapse
rates by decreasing the need for hospitalization.
Family-Oriented Therapies- because schizophrenia requires continuous treatment, and often
patients who have acute psychosis are discharged home to families. The goal is to empower the
family to resolve problems quickly. Often family members will try to help by push patients with
schizophrenia to resume regular activities too quickly, in which they are not ready. Therapists
can be instrumental in educating families and patients about schizophrenia, including
encouraging discussion about psychotic episodes. Later, therapists can direct family therapy to
long-term goals of community integration in everyday life, including stress-reduction and coping
strategies. Therapists are tasks with controlling the emotional intensity of the family sessions.
Excessive emotional expression during sessions can be damaging to the recovery process.
Studies have shown that family therapy is effective to reduce relapses.
National Alliance on Mental Illness (NAMI)- NAMI and similar groups offer support groups
for family and friends of people who are mentally ill. They offer emotional and practical advice
on obtaining care. NAMI has also launched a campaign to destigmatize mental illness
Case Management- because cases can be complex and include psychiatrists, social workers,
occupational therapists, and many others, it is helpful to have a main contact point, or a case
manager. The case manager ensures all efforts are coordinated and the patient keeps
appointments. Case Managers can make home visits and accompany patients to work. Case
managers can often be overwhelmed with cases, making it difficult to manage. Success of
programs/case management can depend on education, training, compensation (pay, benefits,
work-life balance), and workload.
Assertive Community Treatment- Assertive Community Treatment (ACT) Program originally
developed by researchers in Madison, Wisconsin in the 1970s for delivery of services for people
with chronic mental illness. Patients were assigned to a multidisciplinary team (Case manager,
psychiatrist, nurse, physician, etc) which delivered services as needed 24/7. This was an
intensive, mobile unit providing medication, treatment, and support activities. High staff-patient
ratio (1:12) and ACT effectively reduced the risk of rehospitalization with schizophrenia but it is
an intensive program to deliver.
Group Therapy- Focuses on real-life plans, problems, and relationships. Groups can be
behavioral oriented, psychodynamically or insight oriented, or supportive. Group therapy is
effective in reducing social isolation, increasing sense of cohesiveness, and improving reality
testing for patients with schizophrenia. Groups led in a supportive manner appear most helpful to
patients.
Cognitive Behavioral Therapy- improves cognitive distortions, reduces distractibility, and
corrects errors in judgment. Reports of ameliorating delusions and hallucinations in some
patients using this therapy. Patients who may benefit from this therapy have some insight into
their illness.
Individual Psychotherapy- helpful and the effects are additive to those of pharmacological
treatment. Developing a rapport is critical. The patient must trust the therapist and feel safe.
Psychotherapy should be thought of in terms of decades rather than months or sessions. Patients
with schizophrenia who are able to form a good alliance with a therapist are more likely to
remain in psychotherapy, remain compliant with medication, and have good outcomes at 2-year
folowups. Establishing a relationship can be difficult as these patients are often lonely but may
become angry, hostile, or regress when people get close due to paranoia, suspiciousness, or fear.
Therapists must respect a patient’s distance & privacy throughout care. Patients can perceive
exaggerated warmth as bribery, manipulation, or exploitation. Flexibility is essential as the
therapist may go on walks with the patient, sit on the floor, have a meal, play games, or just sit
silently. The major aim is to convey the idea that the therapist is trustworthy.
Personal Therapy- Flexible type of psychotherapy recently developed to provide individual
treatment for schizophrenia. Objective is to enhance personal and social adjustment and forestall
relapse. It uses social skills, relaxation exercises, psychoeducation, self-reflection, self￾awareness, and exploration of individual vulnerability to stress. Patients receiving personal
therapy show improvements in social settings, work performance, leisure, and interpersonal
relationships and have a lower relapse rate after 3 years than those not receiving personal
therapy.
Dialectal Behavioral Therapy- combines cognitive and behavioral theories in both individual
and group settings. Has been useful in borderline cases and may be beneficial in schizophrenia.
Emphasis on improving interpersonal skills in the presence of an active and emphatic therapist.
Vocational Therapy- Variety of methods and settings used to help patients regain old skills or
develop new ones. These include sheltered workshops, job clubs, and part time or transitional
employment. Enabling others to be gainfully employed is a means toward and a sign of recovery.
Many patients with schizophrenia are capable of performing high-quality work. Others may
exhibit exceptional skill or even brilliance in a limited field as a result of some idiosyncratic
aspect of their disorder.
Art Therapy- provides an outlet for constant bombardment of imagery. It helps communicate
with others and share their inner, often frightening world with others.
Cognitive Training- AKA Cognitive Remediation recently introduced to treat schizophrenia.
Utilizing computer-generated exercises, neural networks are influenced in such a way that
cognition (working memory included) is improved. This means more effective social
functioning.
7.2 Schizoaffective Disorder- It has features of schizophrenia and mood disorders. Prevalence-
0.5 to 0.8 percent
6 categories
➢ Schizophrenia with Mood sx
➢ Mood disorder with SZ sx
➢ Both mood and Sz
➢ Pt with a 3rd psychosis unrelated to Sz and mood disorder
➢ Pt whose disorder is on a continuum between Sz and mood disorder
➢ Some combination of the above
Diagnostic Criteria (See other specification in DSM5 book)
A. An uninterrupted period of illness during which there is a major mood episode (major
depressive or manic) concurrent with Criterion A of schizophrenia.
Note: The major depressive episode must include Criterion A1 : Depressed mood.
B. Delusions or hallucinations for 2 or more weeks in the absence of a major mood episode
(depressive or manic) during the lifetime duration of the illness.
C. Symptoms that meet the criteria for a major mood episode are present for the majority of
the total duration of the active and residual portions of the illness.
D. The disturbance is not attributable to the effects of a substance (e.g., a drug of abuse,
a medication) or another medical condition.
Differential diagnosis
➢ All possibilities considered for mood disorders and Sz
➢ Psychotic disorder- check hx of substance abuse and medical condition. Neurological
abnormality warrants an EEG
Course and Prognosis
➢ Predominant sx were affective- better prognosis; schizophrenic- worst prognosis
Treatment
➢ Mood stabilizers- carbamazepime superior for Schizoaffective
➢ SSRI- Fluoxetine and Sertraline – 1
st line
➢ TCA- for agitated and insomniac
➢ ECT
➢ Psychosocial ttt include family therapy, social skills training and CBT.
7.3 Schizophreniform Disorder -Mood and clouding of consciosness that last for 1 month but
less than 6 months. Patient return to baseline functioning when disorder is resolved.Prevalence
0.09 -0.11 percent.Limitted LEFT HEMISPHERE , enlarge cerebral ventricles in Brain MRI.
Diagnostic Criteria (See other specification in DSM5 book)
A. Two (or more) of the following, each present for a significant portion of time during a
1-month period (or less if successfully treated). At least one of these must be (1), (2),
or (3):
1. Delusions.
2. Hallucinations.
3. Disorganized speech (e.g., frequent derailment or incoherence).
4. Grossly disorganized or catatonic behavior.
5. Negative symptoms (i.e., diminished emotional expression or avolition).
B. An episode of the disorder lasts at least 1 month but less than 6 months. When the
diagnosis must be made without waiting for recovery, it should be qualified as “provisional.” ‘
C. Schizoaffective disorder and depressive or bipolar disorder with psychotic features have
been ruled out because either 1 ) no major depressive or manic episodes have occurred
concurrently with the active-phase symptoms, or 2) if mood episodes have occurred during
active-phase symptoms, they have been present for a minority of the total duration
of the active and residual periods of the illness.
D. The disturbance is not attributable to the physiological effects of a substance (e.g., a
drug of abuse, a medication) or another medical condition.
Differential diagnosis
➢ Psychotic disorder- check detailed hisotry and PE, lab test, imaging, hx of substance
abuse and medical condition.
➢ DURATION OF PSYCHOTIC SX- less than 1 month
➢ Co morbid with mood and anxiety disorders
Course and Prognosis
➢ Most estimates progression to SZ range between 60-80 %. Some have 2nd or 3rd episode
that progresses to SZ. Few will have only a single episode then return to baseline
functioning.
Treatment
➢ Hopsitalization- 3-6 months antipsychotics
➢ Trial of mood stabilizers as prophylaxis if the patient has a recurrent epsiode.
➢ Psychotherapy
➢ ECT
7.4. Delusional Disorder and Shared Psychotic Disorder- non bizarre delusions for atleast 1
month. Tend to be underreported . Prevalence is 0.2- 0.3 percent. Onset at 40 but some can start
at 18-90 y/o. Involves suspisiousness, jealousy, secretiveness. LIMBIC system and BASAL
Ganglia is affected. Lack of trust in relationships, uses reaction formation as defence mechanism.
Risk factors: Advance age, sensory impairment, family hx, social isolation, personality features,
recent immigration.
Diagnostic Criteria (See other specification in DSM5 book)
A. The presence of one (or more) delusions with a duration of 1 month or longer.
B. Criterion A for schizophrenia has never been met.
Note: Hallucinations, if present, are not prominent and are related to the delusional
theme (e.g., the sensation of being infested with insects associated with delusions of
infestation).
C. Apart from the impact of the delusion(s) or its ramifications, functioning is not markedly
impaired, and behavior is not obviously bizarre or odd.
D. If manic or major depressive episodes have occurred, these have been brief relative
to the duration of the delusional periods.
E. The disturbance is not attributable to the physiological effects of a substance or another
medical condition and is not better explained by another mental disorder, such
as body dysmorphic disorder or obsessive-compulsive disorder.
Erotomanic type: This subtype applies when the central theme of the delusion is that another
person is in love with the individual.Patients tend to be solitary, withdrawn, sexually inhibitted.
Exhibit paradoxical conduct. High potentila for violence.
Grandiose type: Aka MEGALOMANIA. This subtype applies when the central theme of the
delusion is the conviction of having some great (but unrecognized) talent or insight or having
made some important discovery.
Jeaious type: Conjugal paranoia. This subtype applies when the central theme of the
individual’s delusion is that his or her spouse or lover is unfaithful.
Persecutory type: This subtype applies when the central theme of the delusion involves the
individual’s belief that he or she is being conspired against, cheated, spied on, followed,
poisoned or drugged, maliciously maligned, harassed, or obstructed in the pursuit of long-term
goals.
Somatic type: Aka Monosymptomatic hypochondraical psychosis. This subtype applies when
the central theme of the delusion involves bodily functions or sensations. Ex; Delusion of
infestation, dysmorphophia, foul body odors or halitosis.
Mixed type: This subtype applies when no one delusional theme predominates.applies to
patients with two or more delusional themes.
Unspecified type: This subtype applies when the dominant delusional belief cannot be clearly
determined or is not described in the specific types (e.g., referential delusions without a
prominent persecutory or grandiose component). Example: Capgras syndrome- familiar person
replaced to an impostor.
With bizarre content: Delusions are deemed bizarre if they are clearly implausible,
notunderstandable, and not derived from ordinary life experiences (e.g., an individual’s belief
that a stranger has removed his or her internal organs and replaced them with someone else’s
organs without leaving any wounds or scars).
Shared Psychotic disorder: also known as shared paranoid disorder, induced psychotic disorder,
folie impose, double insanity. Transfer of delusion from one person to another for persons who
typically live together.
Differential Diagnosis
➢ Toxic metabollic conditions
➢ Huntingtons disease
➢ Delerium, Dementia, Substance related disorder
➢ Other disorders, like malingering and factitious disorder, OCD, Somatoform disorder,
Paranoid personality disorder
Course and Prognosis
➢ 50 percent recovered, 20 percent has decreased sx, 30 has no change.
➢ Patients with persecutory, somatic, erotic delusions better prognosis that grandiose and
jelous delusions
Treatment
➢ Psychotherapy to establish trust. Ability to respond to mistrust . Succesfull treatment
shows social adjustment.
➢ Hospitalization to determine non-psychiatric medical condition. To control violent
impulses. The patient require professional intervention as they can’t function in a family
setting.
➢ Pharmacotherapy. Antipsychotics like low dose haldol, risperdal. And trial with mood
stabilizer.
7.5 Brief Psychotic Disorder, Other Psychotic Disorder, And Catatonia.
Brief Psychotic Disorder-sudden onset that last for 1 day but less than 1 month. The content of
the psychosis is related to the nature of traumatic experience. Psychosis seem to serve as an
escape of the trauma.This disorder is seen in personality disorder. Patients who experience this
disorder ussually has a family history of SZ and/ or Mood conditions in the family. Also
hypothesize as defense against prohibited fantasy or stressful psychosocial situation.
Diagnostic Criteria (See other specification in DSM5 book)
A. Presence of one (or more) of the following symptoms. At least one of these must be
(1), (2), or (3):
1. Delusions.
2. Hallucinations.
3. Disorganized speech (e.g., frequent derailment or incoherence).
4. Grossly disorganized or catatonic behavior.
Note: Do not include a symptom if it is a culturally sanctioned response.
B. Duration of an episode of the disturbance is at least 1 day but less than 1 month, with
eventual full return to premorbid level of functioning.
C. The disturbance is not better explained by major depressive or bipolar disorder with
psychotic features or another psychotic disorder such as schizophrenia or catatonia,
and is not attributable to the physiological effects of a substance (e.g., a drug of abuse,
a medication) or another medical condition.
Differential diagnosis
➢ Present longer than 1 month: SZ, Schizophreniform, Schizoaffective, mood disorders.
➢ Factitious disorder, like malingering
➢ Epilepsy
➢ Delirium
Course and Prognosis
➢ Acute and residual sx is commonly few days. 50-80 % of patients have no major
psychiatric px. Example: Temporal Meningioma has good prognosis.
Treatment
➢ Hospitalization- monitor sx and ax patients danger to self and others.
➢ Pharmacotherapy-Antipsychoti- haldol. Benzodiazepine. Ziprazidone.
➢ Psychotherapy- provide opportunity to discuss stressors and psychotic episode. Family
involvement is a must.
Psychotic Disorder Not otherwise Specified.
1. Autoscopic Psychosis. Visual hallucination of persons own body. Treatment ussually
involve anxiolytics and antipsychotic medications.
2. Motility Psychosis. Variant and brief psychosis. Akinetic example is the catatonic
stupos. Hyperkinetic form is fast resolving. This disorder pose danger on the excited
phase as mood is extremely labile.
3. Postpartum psychosis. AKA Puerperal psychosis. Delusion of mom to harm either
infant or self.
Psychotic Disorder Due to a Medical Condition
Diagnostic Criteria (See other specification in DSM5 book)
The patient presents psychotic sx due to a brain tumor (Cerebral neoplasm) or phencyclidine
(PCP), or meds like cortisol. Seen in patients who abuse alcohol or substances. Clinical featurs
include hallucinations and delusions.
A. Prominent hallucinations or delusions.
B. There is evidence from the history, physical examination, or laboratory findings that the
disturbance is the direct pathophysiological consequence of another medical condition.
C. The disturbance is not better explained by another mental disorder.
D. The disturbance does not occur exclusively during the course of a delirium.
E. The disturbance causes clinically significant distress or impairment in social, occupational, or
other important areas of functioning.
Differential diagnosis
➢ Delerium
➢ Dementia
➢ Schizophrenia
Treatment
➢ Hospitalization for safety, Antipsychotic agents like Olanzapine or Haldol,
Benzodiazepine to control aggression.
Catatonic Disorder. Occurs in severe psychotic and mood disorders. It is a disorder due to
the physiologic effects of a general medical condition. Laboratory examination include CBC,
electrolytes, brain imaging, electroencephalography. If NMS is suspected, There is an elevated
creatinine phosphokinase, WBC, serum transaminase.
Catatonia Disorder due to Another Mental Disorder (Catatonia Specifier)
Diagnostic Criteria (See other specification in DSM5 book)
A. The clinical picture is dominated by three (or more) of the following symptoms:
1. Stupor (i.e., no psychomotor activity; not actively relating to environment).
2. Catalepsy (i.e., passive induction of a posture held against gravity).
3. Waxy flexibility (i.e., slight, even resistance to positioning by examiner).
4. Mutism (i.e., no, or very little, verbal response [Note: not applicable if there is an
established aphasia]).
5. Negativism (i.e., opposition or no response to instructions or external stimuli).
6. Posturing (i.e., spontaneous and active maintenance of a posture against gravity).
7. Mannerism (i.e., odd, circumstantial caricature of normal actions).
8. Stereotypy (i.e., repetitive, abnormally frequent, non-goal-directed movements).
9. Agitation, not influenced by external stimuli.
10. Grimacing.
11. Echolalia (i.e., mimicking another’s speech).
12. Echopraxia (i.e., mimicking another’s movements).
B. There is evidence from the history, physical examination, or laboratory findings that the
disturbance is the direct pathophysiological consequence of another medical condition.
C. The disturbance is not better explained by another mental disorder (e.g., a manic episode).
D. The disturbance does not occur exclusively during the course of a delirium.
E. The disturbance causes clinically significant distress or impairment in social, occupational, or
other important areas of functioning.
Differential Diagnosis
➢ Hypopactive delerium
➢ End satge dementia
➢ Akinetic mutism
➢ NMS
Course and treatment
➢ Hospitalization to maintain fluid and nutrients
➢ Benzodiazepines
➢ ECT
Chapter 18 Gender Dysphoria
❖ Overview
➢ DSM 5 New diagnosis
▪ Relates to people who have a marked difference between who they
experience/express themselves to be and the one they were assigned at birth
▪ In previous DSM it was gender identity disorder
➢ Gender identity
▪ Refers to the sense someone has of being male or female and usually corresponds
with their anatomical sex.
▪ Gender dysphoria means the person has a discontent with their assigned sex
• Want to be socially accepted as different sex
➢ Transgender
▪ General term for people who identify as gender different from their born sex
▪ Multiple types
• Transsexuals
 Want the other genders body
• People who feel they are in between the two genders
• Gender queer
 People who identify as neither gender
• Crossdressers
 People who wear clothing of the other sex but maintain their assigned
gender
▪ Most transgender people do not have genital surgery
• Some do not desire it
• Others can’t afford it
▪ May be of any sexual orientation
➢ Criteria for diagnosis in children and adolescents is slightly different
➢ Children’s’ gender dysphoria presents differently
▪ Statements of wanting to be the other sex
▪ Broad range of sex type behaviors shown by the other sex
➢ Gender identity solidifies around ages 2 to 3
➢ Specifier for gender dysphoria
▪ Associated with a disorder of sex development
❖ Epidemiology
➢ Children
▪ Referred in early grade school years
▪ Parents notice before age of 3
➢ Adults
▪ Prevalence rate
• 0.005 to 0.014 for male-assigned
• 0.002 to 0.003 for female assigned
❖ Etiology
➢ Brain organization theory
▪ Refers to masculinization/feminization of the brain in utero
▪ Testosterone affects the brain neurons that contribute to masculinization such as
the hypothalamus
▪ Controversial if testosterone contributes to masculine or feminine behavioral
patterns
➢ Genetic causes
▪ Under study, no candidate genes identified
▪ Chromosomal variations uncommon
➢ Most likely to be left-handed- significance of this is unknown
➢ Imaging shown changes in
▪ White matter tracts
▪ Cerebral blood flow
▪ Cerebral activation patterns
▪ Studies have not been replicated
❖ Psychosocial factors
➢ Formation influenced by interaction of child’s temperament and parents’ qualities and
attitudes.
➢ Greater tolerance for mild cross-gender activity in children has developed over the past
few years
❖ Sigmoid Freud
➢ Believed that gender identity problems came from conflicts experienced by children in
the oedipal triangle
▪ Fueled by both real family evens and children’s fantasies
➢ Quality of mother to child relationship in first years of life is paramount in establishing
gender identity
❖ Diagnosis criteria
➢
❖ Children with gender dysphoria will typically want to play with the other gender, enjoy
games and toys of the other gender and wear their clothes
➢ To be diagnosed this must be present with
▪ A strong desire to be the other gender
▪ Strong dislike of their sexual anatomy
• Or desire to change their anatomy
▪ They may state that their genitals will change, urinate in the position of the other
gender
▪ Must be present with significant distress or impairment of the child not just the
caregivers.
❖ Differential diagnoses of children
▪ Gender dysphoria no longer excludes intersex people
• Have specifier now
▪ Medical history important to distinguish between children with intersex conditions
and those without
➢ Diagnosis of Adolescents and Adults
▪ Must show incongruence between expressed and assigned birth
▪ Must meet at least two of the six criteria
▪ Strong desire to be other gender or beliefs and feelings typical of other gender
▪ Must experience clinical distress or impairment related to gender identity
➢ Differential diagnosis of adolescents and adults
▪ May be a part of delusional thinking like schizophrenia
• Extremely rare
▪ Body dysmorphic disorder
• Potential differential diagnosis for those who preset with desire to change
gender body parts
 Believe that this body part is abnormal rather than due to the wrong
assigned gender
▪ Paraphilic disorders
• DSM: Contains diagnosis of transvestic disorder
 Defined as recurrent and intense sexual arousal from cross-dressing that
causes significant distress or impairment
• Differentiated due to the patient’s gender identity being consistent with their
assigned birth
❖ Course and prognosis
➢ Children
▪ First brought for clinical evaluation around school age because this is when they
begin to interact heavily with other children
• Scrutinized by adults other than caregivers
▪ Puberty
• Increased anxiety at this point due to changes in their bodies
➢ Comorbidity in children
▪ Not all children with body dysmorphia grow up to be transgender
▪ Children show higher rates of depressive disorders, anxiety, and impulse control
• Likely due to stigma
▪ Some evidence shows children may fall on spectrum
• May be due to intrauterine hormone exposure
➢ Comorbidity in Adults
▪ Higher rates of depression, anxiety, suicidality, self-harming behaviors and
substance abuse.
▪ Lifetime rate of suicidal thoughts in transgender people about 40 percent
❖ Treatment
➢ Children
▪ Therapy
• Individual
• Group
• Family
▪ Geared towards exploring their gendered interests and identities
▪ Some practice reparative or conversion therapy
• Attempts to change a person’s gender identity or sexual orientation
• Controversial
• Contrary to position statements by APA
▪ Adolescents
• In puberty some show intense fear and preoccupation related to physical
changes
• Psychotherapy
 Therapists use their reactions to determine if puberty blocking medications
should be given
➢ Gives family and patient time to reflect on best option for the adolescent
▪ Adults
• Psychotherapy
 Explore gender issues, hormonal treatment, and surgical treatment
 Hormonal and surgical may decrease depression and improve quality of life
▪ Mental Health Treatment
• Transgender people less likely to access care due to poor treatment and
medicalization of their people
• Many clinicians who perform gender altering surgery require letters from mental
health provider
• Transgender people are involved in mental health as a gatekeeping model
• Community clinics using informed consent models for hormone treatment
 Decreases need for mental health providers to play role as gate keepers
▪ Surgery
• Cost is an issue
• Some do not desire it
• Not convinced it will be helpful
• Most common surgery for both trans-men and women is top surgery (chest).
• Bottom surgery is less common
• Metoidioplasty
 Clitoris is freed from ligament attaching it to the body
 Tissue is added which increases length and girth
• Scrotoplasty
 Placement of testicular implants
• Phalloplasty
 Creation of a penis
 Less common due to cost
 Involves multiple procedures
➢ Donor skin from another part of the body
➢ Limited functionality
• Vaginoplasty
 AKA sex reassignment surgery
➢ Testicles removed
➢ Penis reconstructed to form clitoris
➢ Vagina created
 Techniques are very good in this type of surgery
 Very expensive
• Orchiectomies
 Another option to vaginoplasty
 Testes are removed
 Can be done in office with local anesthetic
 Effective in substantially decreasing the body’s production of androgens
• Facial feminization surgeries
 Alter the cheeks, forehead, nose, and lips
• Rare cases of self-surgery
 Women inject industrial grade silicone to produce body curves
➢ Can lead to silicone blood clots that lead to embolism and death
❖ Other specified
➢ Used when presentation causes clinically significant distress or impairment but does not
meet full criteria
▪ Reasons for not meeting full criteria must be documented
❖ Unspecified
➢ When full criteria are not met, and clinician chooses not to specify why they are not met
❖ ICD-10/11
➢ Transsexualism (F64.0)
➢ Dual-role transvestism (F64.1)
➢ Gender identity disorder of childhood (F64.2)
➢ Other gender identity disorders (F64.3)
➢ Gender identity disorder, unspecified (F64.4)
➢ ICD 11
▪ Has been recommended to move gender identity from psychological section to its
own separate chapter
❖ Intersex conditions
➢ Includes people who are born with anatomies that do not correspond with typical male
or female bodies
➢ Congenital Adrenal Hyperplasia
▪ Enzymatic defect in production of adrenal cortisol
• Begins prenatally
• Excessive adrenal androgen can be controlled by steroid admin
▪ Androgenization
• Ranges from mild clit enlargement to external genitals
 Look like normal scrotal, sac, testes, and a penis
➢ Behind these are external genitals are a vagina and a uterus
• Other parts of the body remain feminized
• Most are raised female
• Parents unsure = intersex identity
• Gender identity reflects rearing practices, but hormones may determine
behavior
➢ Androgen insensitivity syndrome
▪ Formerly called testicular femization
▪ Complete androgen insensitivity and the XY karyotype
• Tissue cells unable to use testosterone and other androgens
• Person appears a normal female at birth
 Is raised as a girl
 Later found to have cryptorchid testes
➢ Produces testosterone that tissues do not respond to
 Minimal or absent sex organs
• Secondary sex characteristics at puberty are female
 Due to small but enough estrogens
➢ Results in conversion of testosterone into estradiol
➢ Turner’s syndrome
▪ One sex chromosome is missing
▪ Have female genitalia
▪ Short
▪ Anomalies such as shield-shaped chest and webbed neck
▪ Dysfunctional ovaries
• Need exogenous estrogen to develop secondary sex characteristics
▪ Typically identify as female
➢ Klinefel syndrome
▪ Extra x chromosome
▪ Appear to be normal males at birth
▪ Excessive gynecomastia may occur in adolescence
▪ Testes are small
• Usually without sperm
▪ Tall
▪ Body habitus is eunuchoid
▪ Higher rate of gender dysphoria
➢ 5 alpha reductase deficiencies
▪ Enzymatic defect prevents conversion of testosterone to dihydrotestosterone
• Required for prenatal virilization of genitalia
▪ Appears female at birth some variance is visible
▪ Over half identify as male
❖ Treatment
➢ Must be timely due to being present at birth
➢ When intersex conditions are discovered a panel care for the patient
▪ Pediatric
▪ Urological
▪ Psychiatric experts
• Work with family to determine sex of rearing
• Basis of clinical exams, urological studies, buccal smears, chromosomal analyses
and assessment of the parents’ wishes
➢ Education is necessary
❖ Transvestic disorder
➢ In DSM 5 section on paraphilic disorders
▪ Period of at least 6 months of recurrent and intense sexual arousal from cross
dressing
• Must cause significant distress or impairment
➢ Prevalence is unknown
➢ More common in males
➢ Can coexist with other paraphilic disorders
▪ Most commonly sexual masochism d/o
▪ Fetishistic d/p
➢ Treatment
▪ Psychotherapy
• Stress factors are identified
• Goal to help patient cope with stressors
 Hopefully eliminate them
▪ Pharmacotherapy
• Antianxiety meds
• Antidepressants
• Impulse control meds
▪ Behavior therapy and hypnosis alternative methods
❖ Preoccupation with castration
➢ Not in DSM-5
➢ Can be life threatening if it is carried out without medical supervision
➢ May occur in patients who do not want to have sex characteristics of other sex but are
uncomfortable with their assigned sex
▪ Lives are driven by the fantasy of what it would be like to be a different gender
➢ May be asexual and lack sexual interest in either men or women
Chapter 20
Substance Use and Addictive Disorders
Substance Abuse Disorders
• 11 classes of agents: alcohol; amphetamines or similarly acting agents;
caffeine; cannabis; cocaine; hallucinogens; inhalants; nicotine; opioids;
phencyclidine (PCP) or similar agents; and a group that includes sedatives,
hypnotics, and anxiolytics.
• Behavioral Dependence: substance-seeking activities and related evidence
of pathological use patterns are emphasized
• Physical dependence: physical (physiological) effects of multiple episodes
of substance use.
• Psychological dependence: (habituation) continuous or intermittent craving
(i.e., intense desire) for the substance to avoid a dysphoric state.
• Coaddition/ Enabling: codependency or codependence are used to
designate the behavioral patterns of family members who have been
significantly affected by another family member’s substance use or addiction
• Denial: the substance use that is causing obvious problems are not really a
problem.
Brain disease: Addiction is a brain disease that transforms voluntary drug-using
behavior to compulsive drug use are changes in the structure and neurochemistry
of the brain of the drug user.
Psychodynamic Factors
• Classic theories: substance abuse is a masturbatory equivalent (some
heroin users describe the initial “rush” as a prolonged sexual orgasm), a
defense against anxious impulses, or a manifestation of oral regression (i.e.,
dependency).
• Recent theories: Psychodynamic functions relate substance use a s a
reflection of disturbed ego functions
Etiology
• Drug use is behavior maintained by its consequences. When they
terminate noxious stimuli (anxiety, pain, depression), their use is
reinforced
• Response of drug use is seen in limbic system-amygdala, and anterior
cingulate especially from cocaine, opioids, cigarettes.
• Major neurotransmitters affected are opioid, catecholamine
(mainly)dopamine and GABA systems
• Locus ceruleus is largest group of adrenergic neurons that mediates
effects of the opiates and opioids
Genetic Factors
• Strong evidence from studies of twins, adoptees, and siblings brought up
separately indicates that the cause of alcohol abuse has a genetic component.
Receptors
• The opioids, for example, act on opioid receptors. A person with too little
endogenous opioid activity (e.g., low concentrations of endorphins) or with
too much activity of an endogenous opioid antagonist may be at risk for
developing opioid dependence.
Comorbid Disorders
• 50 percent of addicts have a comorbid psychiatric disorder
• 35 to 60 percent of patients with substance abuse or substance dependence
also meets the diagnostic criteria for antisocial personality disorder.
• About one third to one half of all those with opioid abuse or opioid
dependence and about 40 percent of those with alcohol abuse or alcohol
dependence meet the criteria for major depressive disorder
• Persons who abuse substances are about 20 times more likely to die by
suicide than the general population. About 15 percent of persons with
alcohol abuse or alcohol dependence have been reported to commit suicide.
Diagnostic Classifications
• There are four major diagnostic categories in the DSM-V
(1) Substance Use Disorder
(2) Substance Intoxication
(3) Substance Withdrawal
(4) Substance-Induced Mental Disorder.
Treatment
• Detox
• AA
• Outpatient Programs
• Methadone/Suboxone
• Five stages of treatment: precontemplation, contemplation, preparation,
action, and maintenance.
• Interventions for some drug use disorders may have a specific
pharmacological agent as an important component; for example, disulfiram,
naltrexone (ReVia), or acamprosate for alcoholism; methadone (Dolophine),
levomethadyl acetate (ORLAAM), or buprenorphine (Bupe) for heroin
addiction; and nicotine delivery devices or bupropion (Zyban) for tobacco
dependence.
Statistics
• In 2012, 22 million or 10% Americans have a substance-related dx
• More men use drugs than women and highest lifetime rate is among
American Indians or Alaskan natives; whites more than blacks; usually have
less education
Alcohol-Related Disorders
Alcohol-related problems in the United States contribute to 2 million injuries each
year, including 22,000 deaths.
Epidemiology
Psychiatrists need to be concerned about alcoholism because this condition is
common; intoxication and withdrawal mimic many major psychiatric disorders,
and the usual person with alcoholism does not fit the stereotype
Prevalence
• Two of three men are drinkers, with a ratio of persisting alcohol intake of
approximately 1.3 men to 1.0 women, and the highest prevalence of drinking
from the middle or late teens to the mid-20s.
• 10 percent of women and 20 percent of men have met the diagnostic criteria
for alcohol abuse during their lifetimes
• 3 to 5 percent of women and 10 percent of men have met the diagnostic
criteria for the more serious diagnosis of alcohol dependence during their
lifetimes
• Alcohol use and alcohol-related disorders are associated with about 50
percent of all homicides and 25 percent of all suicides.
Comorbidity
The psychiatric diagnoses most associated with the alcohol-related disorders are
other substance-related disorders, antisocial personality disorder, mood disorders,
and anxiety disorders.
Psychodynamic Theories
Psychodynamic theories: alcohol is to help deal w. self-punitive harsh superegos
and to lower unconscious stress levels.
Behavioral theories: expectations about the rewarding effects of drinking,
cognitive attitude toward responsibility for one’s behavior, and subsequent
reinforcement after alcohol intake all contribute to the choice to drink continuously
despite problems
Childhood History
A childhood history of attention-deficit/hyperactivity disorder (ADHD), conduct
disorder, or both, increases a child’s risk for an alcohol-related disorder as an adult
deficits on neurocognitive testing, low amplitude of the P300 wave on evoked
potential testing, and a variety of abnormalities on electroencephalography (EEG)
recordings
Genetic Theories
• 4-fold increase risk when immediate relatives are alcoholics and rate
increase the as # of alcoholic relatives increases
Absorption
• 10% absorbed in stomach; peak concentration 30-90mminutes if stomach
empty, it is quicker)
• Alcohol content 15%-30% will lead to more rapid absorption
• Stomach releases more mucus and closes pyloric valve if alcohol content is
too high in stomach 90% metabolized by liver and rest is excreted
unchanged through kidneys and lungs
• Alcohol dehydrogenase and aldehyde dehydrogenase-2 enzymes breakdown
alcohol
Neurotransmitters
• No single neurotransmitter or brain system is target of alcohol
• Gaba, serotonin 5HT-3, nicotinic acetylcholine receptors are enhanced by
alcohol and ion channels associated with glutamate receptors and voltage￾gated calcium channels are inhibited
Blood Alcohol Level
▪ 0.1-voluntary motor affected, clumsy
▪ 0.2-the function of entire motor area of brain is
depressed, and control of emotional behavior is lost
▪ 0.3-confused, stuporous
▪ 0.4-0.5 fall into coma
• As BAL level increases, breathing and heartrate are impaired even leads
to intubation if breathing is agonal
Signs & Symptoms
• Causes decreased REM, deep sleep, and more sleep interruptions
• Over time, fats and proteins buildup in liver-fatty liver then eventually
alcoholic hepatitis and cirrhosis
• Long-term-esophagitis, portal hypertension, esophageal varices, gastritis,
pancreatitis, pancreatic CA, increase risk MI and stroke, elevated
triglycerides, hypoglycemia
Withdrawal delirium, seizures, tremors, headache, n/v, fatigue, malnutrition,
depression
Intervention detoxification, and rehab are vital
Treatment:
• Benzodiazepines, Thiamine replacement, fluid resuscitation
• Psychotropics only recommended if comorbid depressive, anxiety, or
schizophrenia. Otherwise treat with behavior modification approaches and
reassurance
• Med-assisted treatment to help patients abstain-naltrexone, acamprosate,
disulfiram is useful even if no psych dx
Caffeine
The average adult in the U.S. consumes 200mg caffeine/day on avg and 20-30%
consume 500mg/day
• 1 cup of coffee contains 100-150 mg caffeine.
• 2/3 caffeine users use sedatives or hypnotics
• Half-life of caffeine is 3-10 hours, peak concentration is 30-60 min
• Caffeine crosses blood-brain barrier
• 300-800mg in one setting can lead to nervousness and anxiety
• Men=women
• Cigarette smokers consume more caffeine than non-smokers
Medical Issues
• Caffeine causes vasoconstriction, decrease in CBF
• 50-75% have experienced withdrawal-headache, fatigue, anxiety,
irritability, mild depression, impaired psychomotor performance, n/v,
cravings, muscle pain, and stiffness
• Caffeine can induce panic attacks in those w/ panic dx
• Can cause sleep disorder-trouble falling or staying asleep and early
morning awakenings
Treatment
Treatment for cessation is analgesics and caffeine should be slowly titrated to
lessen w/d s/s
Cannabis
Cannabis is the most widely used drug in the world
• Rate of use is twice as high in males than females, ages 26 and older
• Gender gap is less in teens
• Higher use in whites than blacks
Signs & Symptoms
• Reddened eyes, mild tachycardia, and increased appetite
• Cannabis heightens user’s sensitivity to external stimuli
• Impaired motor skills after use for 8-12 hours.
Medical Issues
• Long term heavy use can lead to increased risk of lung CA and COPD.
• Concerns but not strong evidence for cerebral atrophy, seizure susceptibility,
chromosomal damage, birth defects, impaired immune fx, alterations in
testosterone, dysregulation of menses.
Withdrawal
• S/S of withdrawal in daily users occur within 1-2 weeks of cessation. S/S are
irritability, cannabis cravings, sleep disturbances, anxiety, restlessness,
mood changes, headache, chills, stomach pain, sweating, tremors
• Transient paranoia from use is common but psychotic dx is rare
Treatment
• Abstinence and support-individual, family, and group psychotherapy
Hallucinogens
Mushrooms, PCP (phencyclidine)
• 10% of those 12 years and older have tried hallucinogens in their
lifetime; most common among younger white men, ages 15-35. Whites
to blacks is 2:1
• Ages 26 to 34 yrs. have highest usage
PCP
• Effects occur in 5 min, plateaus in 30 min
• Bioavailability is 75% when IV and 30% smoked. Half-life is 20 hours and
half-life of ketamine is 2 hours
Receptors
• PCP and ketamine are antagonist of NMDA glutamate receptor subtype
• PCP activates dopaminergic neurons of ventral tegmental area which
projects to limbic system and cerebral cortex.
Signs & Symptoms
• Pupillary dilatation, tachycardia, sweating, palpitations, blurry vision,
tremors, and incoordination
Treatment
• Reassurance and supportive care. Valium, 20 mg orally, can relieve anxiety.
May need gentle restraint if danger to themselves or others
Inhalant Related Disorders
4 Commercial classes: glue and adhesive solvents, propellants (aerosols),
thinners, and fuels
• Most common among poor, young, white, males
• 6% Americans have tried at least once and 1% use currently
Inhalants act as CNS depressant. Tolerance can develop but withdrawal s/s are
mild
Believed to enhance GABA system
Intoxication: Apathy, diminished social and occupation functioning, impaired
judgment, impulsive or aggressive behaviors.
Medical Issues:
• Nystagmus, depressed reflexes, and diplopia. Skin changes-rashes around
nose, mouth, eyes, throat, lungs, residue on face and hands
• Delirium and dementia from neurotoxic effects of inhalants or from anoxia.
Lead is frequently used in inhalants. Dementia is irreversible
• Causes inhalant induced mood or anxiety disorder
• Can be fatal bc of respiratory depression and cardiac arrhythmias,
asphyxiation, aspiration, or accidental injury
• Inhalant intoxication resolves spontaneously unless in coma, or has
bronchospasm, laryngospasm, cardiac arrhythmias, trauma, or burns at
which point supportive therapy is needed.
• Don’t give benzos or other sedatives bc cause worsening inhalant
intoxication
• Haldol can be used for psychosis but avoid sedatives as they can worsen
psychosis
Comorbid Disorders:
Conduct dx, ADHD, MDD, dysthymic dx, PTSD.
Treatment:
Group and individual therapy are helpful. 12-step programs are helpful. Treatment
is 3-12 months
Opiate Disorder
Opioid dependence is cluster of physiological, behavioral, and cognitive
symptoms.
• 600-800,000 use heroin in the U.S. About 3 million have used in
lifetime
• Heroin is most-widely abused opioid and is more lipid-soluble than
morphine which allows it to cross BBB causing more rapid, pleasurable
effect quicker
• Tolerance to all opioids is not uniform
• Opioid receptor quantities and sensitivity change with opioid use
• Average age of heroin use in 2010 was 21.3yrs
• More use in males; 3:1; most are 30-40 yrs
• Lifetime prevalence of heroin is 1%
• 90% of those with opioid use disorder have a psychiatric. and most
common is MDD, alcohol use disorders, antisocial personality, and
anxiety disorders
• 15% with opiate use dx attempt suicide
• 50% of urban heroin users are children of single parents or divorced
parents and are from fa miles with another member with a substance use
dx.
Genetics
A person with an opiate use disorder may have had genetically
determined hypoactivity of the opiate system.
Withdrawal
• Morphine and heroin w/d begins 6-8 hours after last does usually after
1-2 week period of continued use or after receiving narcotic antagonist.
Peak of w/d is 2-3 days in and lasts up to 7-10 days
• Methadone w/d begins 1-3 days after last dose and lasts 10-14 days
• Meperidine w/d begins quickly and peaks at 8-12hours and ends in 4-5
days
Intoxication
• Opioid intoxication delirium occurs when high doses are used with
other psychotropic compounds or in a person with brain damage, or in
person with CNS
Signs and Symptoms
• Opioid induced Psychotic dx and opioid induced mood dx can occur in
opioid intoxication. In manic, can become irritable, or depressed or
mixed.
• Hypersomnia and impotence are common
• Most common adverse effect is transmission of Hep C and HIV
• ¾ of all infants born to mothers that are addicts have w/d syndrome
• Mothers should only be weaned during 2nd semester, least hazardous
time during pregnancy
Treatment
• Treat overdose with Narcan
• Methadone and suboxone are agonists treatments for opioid use dx
and clonidine is also used for w/d symptoms.
• Clonidine is useful during detox period.
• Methadone is useful- causes less euphoria, less drowsiness, and
depression. People can gain employment and have
less involvement in criminal activity
• Naloxone is an opioid antagonist that abruptly reverses effects of
opioids
• Individual psychotherapy, behavioral therapy, CBT, family
therapy, NA and support groups are helpful
• Therapeutic communities are helpful such as Sober Houses
Sedative, Hypnotic, or Anxiolytic-Related Disorders
Benzodiazepines
• 15% of all Americans have been prescribed benzos but
increasing warnings of dependence have led to lesser
prescriptions
• Rohpynol (date rape drug) is banned in US but widely
abused
• Non-benzo sedatives-Ambien, Lunesta, Sonata, are used
for sleep and effects are like those of benzos
• Most abused by younger people, less than 40; white to
black ratio of 2:1
• Typically used to gain a general relaxed feeling not for
euphoria feeling or getting high
• Can lead to intoxication syndrome causing hostile or
aggressive behaviors and disinhibition
• Tegretol may be useful for w/d symptoms and preventing
seizures
Barbiturates
• Have high-abuse potential
o Phenobarbital is long-acting, half-life of 12-24 hours
o Amobarbital is intermediate acting, half-life is 3-6 hours
o Barbiturates are helpful for sedation but are lethal with only 10 times
the normal dose causing coma and death
o Methaqualone is a barbiturate like drug no longer in U.S it is believed
to heighten sexual pleasure. Street names are “quaaludes, mandrakes
and soapers”. “Luding out” means getting high on methaqualone.
Intoxication resembles alcohol intoxication.
• 6% of people have used sedatives or tranquillizers in lifetime, highest among
those 26-34 yrs. of age
• Most recent use reported in those 18-25 years
• 1/4 to 1/3 of all substance use emergency room visits is related to sedatives
• female to male ratio is 3:1 and white to blacks is 2:1
• Benzos frequently abused by abusers of stimulants, hallucinogens, and PCP
to help reduce anxiety caused by those substances.
• Barbiturate w/d, follow conservative clinical guidelines. Attempt to verify
patient’s daily dose and taper down by 10% at a times. Phenobarbital can be
substituted for short-acting barbiturates.
• Overdose TX: for sedatives includes gastric lavage, activated charcoal, and
close monitoring of vitals, and CNS activity
Stimulant Related Disorders
Amphetamines and methamphetamines are most widely used illicit drugs second to
cannabis
Dextroamphetamine and methamphetamine. Street names are ice, crystal, crystal
meth, and speed. Prescription names are Adderall and Ritalin, Dexedrine
Other substances are pseudoephedrine and phenylpropanolamine which can
exacerbate hypertension, rapid heart rate, precipitate a toxic psychosis, cause
intestinal infarction, and even cause death
The class is referred to as analeptics, sympathomimetics, stimulants and
psychostimulants
• Used to increase performance, and induce euphoric feeling
• 4x normal dose of PPA can be lethal
• Methamphetamine can be inhaled, smoked, or injected IV.
Psychological effects last hours and are powerful. Often manufactured
illegally
• 40% of law enforcement agencies label meth as biggest drug threat 2nd
only to cocaine
• All amphetamines are absorbed rapidly and act within 1 hour when
taken orally. If IV, then effect is immediate.
• Nonprescribed amphetamines are inhaled (snorted)
• Tolerance develops.
• Classic amphetamines produce primary effects by causing release of
catecholamines, mostly dopamine from presynaptic terminals.
• Cocaine is more used by males than females and lowest use is in Asians
• Cocaine more prevalent among blacks and Hispanics
• Estimated 1.1 million use crack/cocaine
• Ages 18-25 had highest crack use in past year
• Cocaine use disorder is often accompanied by other psych dx.
• Development of mood dx and alcohol related dx usually follows onset
of cocaine-related dx.
• ADHD, anxiety dx, and antisocial personality usually PRECEDE
cocaine use dx
• Most common psych dx are MDD, anxiety dx, bipolar dx, cyclothymic
dx, and antisocial personality dx
• Genetic factors and unique environmental factors contribute about
equally to the development of stimulant dependence
• Excessive use is more prevalent in countries where cocaine is readily
available
• Each cocaine use yields a “rush” and a euphoric experience that
reinforces the antecedent drug-taking behavior
Gambling disorder
Gambling Disorder is characterized by persistent and recurrent maladaptive
gambling that causes economic problems and significant disturbances in personal,
social, or occupational functioning.
• 3 to 5 percent rate of problem gamblers in the general population
• 1 percent rate of individuals meeting the requirements for gambling disorder
Gambling is more common in men and young adults than in women and older
adults; however, escalation has been noted in the poor, notably poor minorities;
adolescents; elderly retirees; and women.
Prevalence of gambling disorder in individuals who have a substance use disorder
is higher, with various surveys showing rates of 10 to 18 percent of patients with
substance abuse being pathological gamblers.
Male patients with gambling disorders have shown abnormalities in platelet MAO
activity.
Comorbidity
• Significant comorbidity occurs between pathological gambling and mood
disorders (especially, major depression and bipolarity) and other substance
use and addictive disorders (notably, alcohol and stimulant abuse and
caffeine and tobacco dependence).
• Attention-deficit/hyperactivity disorder (ADHD) (particularly in childhood),
various personality disorders (notably, narcissistic, antisocial, and borderline
personality disorders), and disruptive, impulse control, and conduct
disorders.
• Patients with pathological gambling often display high levels of impulsivity
on neuropsychological tests.
Treatment
• Gamblers Anonymous
• Serotonin reuptake inhibitors (SSRIs) and bupropion (Wellbutrin, Zyban)
• Mood stabilizers, including sustained-release lithium (Eskalith) and
antiepileptics such as topiramate (Topamax)
• Atypical antipsychotics; and opioid agents such as naltrexone (ReVia).
Polysubstance-Related Disorder
Polysubstance dependence is appropriate if, for a period of at least 12 months, a
person has repeatedly used substances from at least three categories (not including
nicotine and caffeine).
Chapter 21 Neurocognitive Disorders
❖ Delirium
❖ Delirium is characterized by an acute decline in both the level of consciousness and cognition
with particular impairment in attention.
❖ The hallmark symptom of delirium is an impairment of consciousness, usually occurring in
association with global impairments of cognitive functions
❖ Classically, delirium has a sudden onset (hours or days), a brief and fluctuating course, and
rapid improvement when the causative factor is identified and eliminated, but each of these
characteristic features can vary in individual patients.
❖ Delirium is a common disorder, with most incidence and prevalence rates reported in elderly
adults.
❖ Advanced age is a major risk factor for the development of delirium.
❖ Delirium is a poor prognostic sign
❖ The 3-month mortality rate of patients who have an episode of delirium is estimated to be 23
to 33 percent.
❖ The major causes of delirium are CNS disease (e.g., epilepsy), systemic disease (e.g., cardiac
failure), and either intoxication or withdrawal from pharmacological or toxic agents
❖ The syndrome of delirium is almost always caused by one or more systemic or cerebral
derangements that affect brain function.
❖ Core features included altered consciousness, impairment in other realms of cognitive
function, relatively rapid onset, brief duration, and unpredictable fluctuations in severity and
other clinical manifestations during the course of the day
❖ Neurotransmitter: acetylcholine and major neuroanatomical area is the reticular formation
❖ One of the most common causes of delirium is toxicity from too many prescribed
medications with anticholinergic activity
Physical examination often reveals clues to causes of delirium
❖ Differentials: Dementia, Schizophrenia, Depression
❖ Course/Prognosis: Last less than 1 week, after identification and removal of causative factors
symptoms of delirium usually recede over a 3-to-7-day period
❖ Treatment: primary goal is to treat underlying cause, if underlying condition is
anticholinergic toxicity the use of physostigmine salicylate (Antilirium) is key
❖
❖Dementia
❖ There are four types of dementias based on etiology: Alzheimer’s disease, dementia of Lewy
bodies, vascular dementia, frontotemporal dementia, traumatic brain injury (TBI), HIV, prion
disease, Parkinson’s disease, and Huntington’s disease.
❖ The critical clinical points of dementia are the identification of the syndrome and the clinical
workup of its cause. The disorder can be progressive or static; permanent or reversible.
❖ Approximately 15 percent of people with dementia have reversible illnesses if treatment is
initiated before irreversible damage takes place.
❖ The prevalence of moderate to severe dementia in different population groups is
approximately 5 percent in the general population older than 65 years of age, 20 to 40
percent in the general population older than 85 years of age, 15 to 20 percent in outpatient
general medical practices, and 50 percent in chronic care facilities.
❖ Of all patients with dementia, 50 to 60 percent have the most common type of dementia,
dementia of the Alzheimer’s type (Alzheimer’s disease).
❖ The second most common type of dementia is vascular dementia
❖ The most common causes of dementia in individuals older than 65 years of age are (1)
Alzheimer’s disease, (2) vascular dementia, and (3) mixed vascular and Alzheimer’s
dementia.
❖ Genetic Factors: 40 percent of patients have a family history of dementia of the Alzheimer’s
type; the disorder has been transmitted in families through an autosomal dominant gene,
although such transmission is rare. Alzheimer’s type dementia has shown linkage to
chromosomes 1, 14, and 21.
❖ AMYLOID PRECURSOR PROTEIN The gene for amyloid precursor protein is on the long
arm of chromosome 21. People with one copy of the gene have Alzheimer’s disease three
times more frequently than do those with no E4 gene, and people with two E4 genes have the
disease eight times more frequently than do those with no E4 gene.
❖ Neurotransmitters: The neurotransmitters that are most often implicated in the
pathophysiological condition of Alzheimer’s disease are acetylcholine and norepinephrine,
❖ -Vascular Dementia The primary cause of vascular dementia, formerly referred to as multi￾infarct dementia, is presumed to be multiple areas of cerebral vascular disease, resulting in a
symptom pattern of dementia. Most commonly seen in men
-Binswanger’s Disease also known as subcortical arteriosclerotic encephalopathy, is
characterized by the presence of many small infarctions of the white matter that spare
the cortical regions
-Frontotemporal Dementia (Pick’s Disease) characterized by a preponderance of atrophy
in the frontotemporal regions. These regions also have neuronal loss; gliosis; and
neuronal Pick’s bodies, which are masses of cytoskeletal elements. The cause of
Pick’s disease is unknown, but the disease constitutes approximately 5 percent of all
irreversible dementias. It is most common in men, especially those who have a first￾degree relative with the condition. Pick’s disease is difficult to distinguish from
dementia of the Alzheimer’s type, although the early stages of Pick’s disease are more
often characterized by personality and behavioral changes, with relative preservation
of other cognitive functions, and it typically begins before 75 years of age.
-Lewy Body Disease a dementia clinically similar to Alzheimer’s disease and often
characterized by hallucinations, parkinsonian features, and extrapyramidal signs,
found in the cerebral cortex These patients often have Capgras syndrome
(reduplicative paramnesia) as party of the clinical picture.
-Huntington’s Disease classically associated with the development of dementia. The
dementia seen in this disease is the subcortical type of dementia, characterized by
more motor abnormalities and fewer language abnormalities than in the cortical type
of dementia exhibits psychomotor slowing and difficulty with complex tasks, but
memory, language, and insight remain relatively intact in the early and middle stages
of the illness. the features distinguishing it from dementia of the Alzheimer’s type are
the high incidence of depression and psychosis in addition to the classic
choreoathetoid movement disorder.
❖ -Parkinson’s Disease a disease of the basal ganglia, commonly associated with
dementia and depression. The slow movements of persons with Parkinson’s disease
are paralleled in the slow thinking of some affected patients, a feature that clinicians
may refer to as bradyphrenia.
-HIV-Related Dementia: Encephalopathy in HIV infection is associated with dementia
and is termed acquired immune deficiency syndrome (AIDS) dementia
complex, or HIV dementia. The development of dementia in people infected with HIV
is often paralleled by the appearance of parenchymal abnormalities in MRI scans.
Other infectious dementias are caused by Cryptococcus or Treponema pallidum. The
AIDS Task Force criteria for AIDS dementia complex require laboratory evidence for
systemic HIV, at least two cognitive deficits, and the presence of motor abnormalities
or personality changes.
-Head Trauma-Related Dementia: Dementia can be a sequela of head trauma. The so￾called punch-drunk syndrome (dementia pugilistica) occurs in boxers after repeated
head trauma over many years. It is characterized by emotional lability, dysarthria, and
impulsivity. It has also been observed in professional football players who developed
dementia after repeated concussions over many years.
-DIAGNOSIS AND CLINICAL FEATURES The diagnosis of dementia is based on the
clinical examination, including a mental status examination, and on information from
the patient’s family, friends, and employers.
-PATHOLOGY, PHYSICAL FINDINGS, AND LABORATORY EXAMINATION
A comprehensive laboratory workup must be performed when evaluating a patient
with dementia, brain imaging techniques, particularly MRI, A general physical
examination is a routine component of the workup for dementia.
-DIFFERENTIAL DIAGNOSIS Dementia of Alzheimer’s Type, Vascular Dementia,
Transient Ischemic Attacks, Delirium, Depression, Factitious Disorder, Schizophrenia,
Normal Aging
-COURSE AND PROGNOSIS The classic course of dementia is an onset in the
patient’s 50s or 60s, with gradual deterioration over 5 to 10 years, leading eventually
to death. The average survival expectation for patients with dementia of the
Alzheimer’s type is approximately 8 years. Data suggest that in persons with an early
onset of dementia or with a family history of dementia, the disease is likely to have a
rapid course. The greater a person’s premorbid intelligence and education, the better
the ability to compensate for intellectual deficits.
-TREATMENT
The first step in the treatment of dementia is verification of the diagnosis. Preventive
measures are important, particularly in vascular dementia. Such measures might
include changes in diet, exercise, and control of diabetes and
hypertension. Pharmacological agents might include antihypertensive, anticoagulant,
or antiplatelet agents. The general treatment approach to patients with dementia is to
provide supportive medical care; emotional support for the patients and their families;
and pharmacological treatment for specific symptoms, including disruptive behavior.
❖ Pharmacotherapy: Clinicians may prescribe benzodiazepines for insomnia and anxiety,
antidepressants for depression, and antipsychotic drugs for delusions and
hallucinations, but they should be aware of possible idiosyncratic drug effects in older
people (e.g., paradoxical excitement, confusion, and increased sedation). In general,
drugs with high anticholinergic activity should be avoided. Donepezil (Aricept),
rivastigmine (Exelon), galantamine (Remiryl), and tacrine (Cognex) are
cholinesterase inhibitors used to treat mild to moderate cognitive impairment in
Alzheimer’s disease. Donepezil is well tolerated and widely used. Tacrine is rarely
used because of its potential for hepatotoxicity. Memantine (Namenda) protects
neurons from excessive amounts of glutamate, which may be neurotoxic. The drug is
sometimes combined with donepezil. It has been known to improve dementia.
❖
❖ Major or Minor Neurocognitive Disorder Due to Another
Medical Condition (Amnestic Disorders)
❖ The amnestic disorders are coded in the DSM-5 as “major or minor neurocognitive
disorders due to another medical condition.” All of these disorders cause impairment
in memory as the major sign and symptom, although other signs of cognitive decline
may coexist.
❖ The amnestic disorders are a broad category that results from a variety of diseases and
conditions that have amnesia as the major complaint. The syndrome is defined
primarily by impairment in the ability to create new memories. Three different
etiologies exist: amnestic disorder caused by a general medical condition (e.g., head
trauma), substance-induced persisting amnestic disorder (e.g., caused by carbon
monoxide poisoning or chronic alcohol consumption), and amnestic disorder not
otherwise specified for cases in which the etiology is unclear.
❖ EPIDEMIOLOGY
❖ No adequate studies have reported on the incidence or prevalence of amnestic
disorders. Amnesia is most commonly found in alcohol use disorders and in head
injury. In general practice and hospital settings, the frequency of amnesia related to
chronic alcohol abuse has decreased, and the frequency of amnesia related to head
trauma has increased.
❖ ETIOLOGY
❖ The major neuroanatomical structures involved in memory and in the development of
an amnestic disorder are particular diencephalic structures such as the dorsomedial
and midline nuclei of the thalamus and midtemporal lobe structures such as the
hippocampus, the mamillary bodies, and the amygdala. Although amnesia is usually
the result of bilateral damage to these structures, some cases of unilateral damage
result in an amnestic disorder, and evidence indicates that the left hemisphere may be
more critical than the right hemisphere in the development of memory disorders.
❖ Amnestic disorders have many potential causes. Thiamine deficiency, hypoglycemia,
hypoxia (including carbon monoxide poisoning), and herpes simplex encephalitis all
have a predilection to damage the temporal lobes, particularly the hippocampi, and
thus can be associated with the development of amnestic disorders. Similarly, when
tumors, cerebrovascular diseases, surgical procedures, or multiple sclerosis plaques
involve the diencephalic or temporal regions of the brain, the symptoms of an
amnestic disorder may develop. Seizures, ECT, and head trauma, can also result in
memory impairment. Transient global amnesia is presumed to be a cerebrovascular
disorder involving transient impairment in blood flow through the vertebrobasilar
arteries. Many drugs have been associated with the development of amnesia:
benzodiazepines are the most commonly used prescription drugs associated with
amnesia
❖ DIAGNOSIS
❖ The recognition of amnestic disorder occurs when impairment in the ability to learn
new information or the inability to recall previously learned information, as a result of
which there is significant impairment in social or occupational functioning, and which
is caused by a general medical condition (including physical trauma). Amnestic
disorder may be transient, lasting for hours or days or chronic lasting weeks or
months. A diagnosis of substance-induced persisting amnestic disorder is made when
evidence suggests that the symptoms are causatively related to the use of a substance.
❖ CLINICAL FEATURES AND SUBTYPES
❖ The central symptom of amnestic disorders is the development of a memory disorder
characterized by an impairment in the ability to learn new information (anterograde
amnesia) and an inability to recall previously remembered knowledge (retrograde
amnesia). The onset of symptoms can be sudden. Patients may be apathetic, lack
initiative, have unprovoked episodes of agitation, or appear to be overly friendly or
agreeable. Patients with amnestic disorders can also appear bewildered and confused
and may attempt to cover their confusion with confabulatory answers to questions.
Characteristically, patients with amnestic disorders do not have good insight into their
neuropsychiatric conditions.
❖ PATHOLOGY AND LABORATORY EXAMINATION
❖ No specific or diagnostic features are detectable on imaging studies such as MRI or
CT. Damage of midtemporal lobe structures is common, however, and may be
reflected in enlargement of third ventricle or temporal horns or in structural atrophy
detected by MRI
❖ DIFFERENTIAL DIAGNOSIS
❖ Dementia and Delirium
❖ Amnestic disorders can be distinguished from delirium because they occur in the
absence of a disturbance of consciousness and are striking for the relative preservation
of other cognitive domains. Normal Aging, Dissociative Disorders, Factious
Disorders
❖
COURSE AND PROGNOSIS
❖ The course of an amnestic disorder depends on its etiology and treatment, particularly
acute treatment. Generally, the amnestic disorder has a static course. Little
improvement is seen over time, but also no progression of the disorder occurs. The
exceptions are the acute amnesias, such as transient global amnesia, which resolves
entirely over hours to days, and the amnestic disorder associated with head trauma,
which improves steadily in the months subsequent to the trauma. Amnesia secondary
to processes that destroy brain tissue, such as stroke, tumor, and infection, are
irreversible, although, again, static, after the acute infection or ischemia has been
staunched.
❖ TREATMENT
❖ The primary approach to treating amnestic disorders is to treat the underlying
cause. After resolution of the amnestic episode, psychotherapy of some type
(cognitive, psychodynamic, or supportive) may help patients incorporate the amnestic
experience into their lives.
❖
❖ Mild Cognitive Impairment
❖ The past decade has seen the emergence of a new concept, mild cognitive
impairment (MCI), which is defined as the presence of mild cognitive decline not
warranting the diagnosis of dementia but with preserved basic activities of daily
living. It was suggested as a diagnostic category designed to fill the gap between
cognitive changes associated with aging and cognitive impairment suggestive of
dementia. The criteria proposed by the Mayo Clinic Alzheimer’s Disease Research
Center (MCADRC) are (1) memory complaint, preferably qualified by an informant;
(2) objective memory impairment for age and education; (3) preserved general
cognitive function; (4) intact activities of daily living; and (5) not demented
❖ CLINICAL PRESENTATION
❖ Memory impairment is necessary but has been difficult to quantify. One measure has
been objective loss of memory or other cognitive domain that is more than 1.5
standard deviations below the mean for individuals of similar age and education.
❖ Assessment Brief mental status instruments (e.g., the Mini-Mental State Examination)
are relatively insensitive for the detection of memory problems in MCI.
❖ Biomarkers: apolipoprotein E4 (ApoE4) allele carrier status has been one of the most
prominent variables. For the amnestic MCI, ApoE4 has been shown to be a risk factor
for a more rapid progression to Alzheimer’s disease.
❖ Genetics: Four genes have been described in relationship with Alzheimer’s disease:
the amyloid precursor protein (APP) gene, presenilin-1 (PSEN1), presenilin-2
(PSEN2), and the apolipoprotein E (APOE) gene.
❖ Diagnostic Differential: The Cognitive Continuum: Normal, Mild Cognitive Impairment,
Alzheimer’s Disease. In practice, differentiating MCI from age-related cognitive
decline resides mainly on neuropsychological testing, showing a cognitive decline
more severe for age and less education. The main differentiation between MCI and
Alzheimer’s disease resides in the lack of functional impairment in MCI.
❖ COURSE AND PROGNOSIS
❖ The typical rate at which MCI patients progress to Alzheimer’s disease is 10 to 15
percent per year and is associated with progressive loss of function. However, several
studies have indicated that the diagnosis is not stable in both directions; patients can
either convert to Alzheimer’s disease or revert back to normal.
❖ TREATMENT
❖ There are no FDA-approved treatments for MCI at this time. MCI treatment involves
adequate screening and diagnosis. Ideally, MCI treatment would also include
improvement of memory loss together with prevention of further cognitive decline to
dementia. Advances in MCI detection will be paramount for early detection and
treatment of patients with Alzheimer’s disease.
29.2 Medication Induced Movement Disorders Outline
Medication Induced Movement disorder
• Commonly associated with use of psychotropic drugs
• Most frequently associated with drugs that block dopamine type 2 (DP2) receptors
• May occur with other drugs as well
• Must differentiate between cause of abnormal movements from adverse event or
underlying disorder (i.e., anxiety can resemble akathisia or ETOH withdrawal can cause
tremors)
• Neuroleptic = effects associated with drugs used to treat psychosis
• Most common neuroleptic related movement disorder = parkinsonism, acute dystonia &
acute akathisia
Neuroleptic Induced Parkinsonism & Other Medication Induced Parkinsonism
Signs/Symptoms
• muscle stiffness
• cogwheel rigidity
• shuffling gait
• stooped posture
• drooling
• Rabbit syndrome = tremor affecting lips and perioral muscles
• More likely to occur later in treatment
Epidemiology
• Typically occurs within 5-9 days of start of treatment
• Elderly and female are at highest risk
• However, can occur at all ages
Etiology
• Neuroleptic induced parkinsonism caused by blockade of D2 receptors
• Symptoms can be caused by all antipsychotics, but occurs especially with Haldol
Differential Diagnosis
• Idiopathic parkinsonism
• Other organic causes of parkinsonism
• Depression
Treatment
• Can be treated with anticholinergic meds such as benztropine (Cogentin), amantadine
(Symmetrel) or Benadryl (diphenhydramine)
• Anticholinergics should be withdrawn after 4-6 weeks to assess tolerance to the
parkinsonian effects has developed
Neuroleptic Malignant Syndrome
• Life threatening complication
• Can occur during antipsychotic treatment
• Motor and behavioral s/s include:
Muscular rigidity
Dystonia
Akinesia
Mutism
Obtundation
Agitation
• Autonomic symptoms include:
Hyperthermia
Diaphoresis
Increased pulse
Increased blood pressure
• Lab symptoms include:
Elevated WBC
Elevated creatinine & phosphokinase
Elevated liver enzymes
Elevated plasma myoglobin
Possible renal failure
Epidemiology
• 0.01 – 0.02% of patients treated with antipsychotics develop neuroleptic malignant
syndrome.
• Men more than women
• Young patients more than elderly patients
Course &Prognosis
• Symptoms develop 24-72 hours
• Untreated lasts 10-14 days
• Diagnosis is often missed in early stages
• Withdrawal or agitation may be mistaken for exacerbation of psychosis
Treatment (to treat Neuroleptic Malignant Syndrome)
• Dantrolene (Dantrium), bromocriptine (Parlodel) and amanatadine (Symmetrel)
• The lowest effective dosage of the antipsychotic medication should be used to reduce the
chance of patient developing neuroleptic malignant syndrome
• Antipsychotic drug, Haldol, poses the greatest risk
• Antipsychotic drugs with anticholinergic effects seem less likely to cause neuroleptic
malignant syndrome
• ECT has also been used.
Medication Induced Dystonia
Diagnosis & S/S
• Dystonia = brief or prolonged contractions of muscles that result in obviously abnormal
movements or postures such as:
Oculogenic crisis
Tongue protrusion
Trismus
Torticollis
Laryngeal-pharyngeal dystonia’s
Dystonic postures of the limb and trunk
• Children suffer opisthotonos, scoliosis, lordosis, and writing movements
• Dystonia can be painful and frightening
• Dystonia may lead to medication non-compliance
Epidemiology
• Early onset
• Higher in males under 30 years old
• Higher in patients given high doses of high potency medications
Etiology
• Common with IM doses of high potency antipsychotic
• Mechanism of action = dopaminergic hyperactivity in basal ganglia when central nervous
system levels of antipsychotic drug drops between doses.
Differential Diagnosis
• Seizures
• Tardive dyskinesia
Treatment
• Prophylaxis with anticholinergic or related drugs
• However, risk of prophylactic treatment outweighs the benefit
• IM/IV Benadryl (50mg)
• Diazepam (10mg IV)
• Amobarbital (Amytal)
• Caffeine sodium benzoate
Medication Induced Akathisia
Diagnosis – S/S
• Akathisia = feelings of restlessness, objective signs of restlessness or both
• Anxiety, inability to relax, jitteriness, pacing, rocking while sitting, rapid alteration of
sitting and standing
Epidemiology
• Middle aged women at increased risk
Treatment
• Reduce medication dosage
• Attempt treatment with appropriate drug
• Consider changing the neuroleptic
Tardive Dyskenisa
Diagnosis – S/S
• Tardive dyskinesia = delayed effect of antipsychotics
• Rarely occurs until 6 months after treatment has started
• Abnormal involuntary, irregular choreathoid movements of muscles of head, limbs and
trunk.
• Perioral movements are most common: darting, twisting and protruding movements of
the tongue, chewing and lateral jaw movements, lip puckering, facial grimacing.
Epidemiology
• Occurs in 10-20% of patients treated for more than 1 year
• 20-40% of patients who require long term hospitalization have tardive dyskenisia
• Women more likely than men
• Also, high risk: children, patients greater than 50 years old, patients with brain damage,
patients with mood disorder
Course & Prognosis
• Less likely to remit in elderly than in young patients
Treatment
• Prevention
By only using antipsychotic meds only when clearly indicated and in small doses
Clozaril – only antipsychotic to have minimum risk of Tardive dyskinesia & can
help with pre- existing symptoms
• Diagnosis
• Management
• Once tardive dyskinesia is recognized considering reducing or stopping the medication
• For patients who cannot continue taking any antipsychotic meds consider Lithium
(Eskalith), Tegretol (carbamazepine) or benzos – may reduce symptoms of movement d/o
and the psychosis
Medication Induced Postural Tremor
• Tremor = rhythmic alteration in movement that is usually faster than one beat per second
• Fine tremor = (8-12 Hz) is most common
Epidemiology
• Tremors decrease du ring periods of relaxation and sleep
• Tremors increase with stress or anxiety
Etiology
• Caused by psychiatric medications (Lithium, stimulants, antidepressants, caffeine &
valproate
Treatment
• Involves 4 principles:
1) Lowest possible dose of psychiatric med should be taken
2) Minimize caffeine intake
3) Take psychiatric med at bedtime to minimize daytime tremor
4) May give propranolol (Inderal) to treat drug induced tremors
Marijuana
-the short term effects of THC include impairment in memory and learning, distorted perception,
diminished problem solving ability, loss of coordination, increased HR and anxiety.
-Abrupt withdrawal can result in a withdrawal syndrome characterized by insomnia, irritability,
restlessness, drug craving, depression, and nervousness, followed by nausea, tremors, muscle
twitching, increased sweating and general malaise. Withdrawal syndrome usually begins 24hrs
after last use, peaks at 2-4 days and diminishes after 2 weeks.
-Marijuana use has been associated with increased risk of psychiatric disorders.
-Acute and chronic use of marijuana is associated with changes in cerebral blood flow to certain
brain regions, which can be detected by PET scan
Cocaine
-high doses or prolonged use can induce paranoid thinking.
-cocaine crosses the blood brain barrier quickly and moves off the dopamine transporter within
20 minutes
LSD (Lysergic Acid Diethylamide)
-can produce visual hallucinations and delusions. Sensations diminish 12 hours after ingestion.
-Can produce a tolerance-meaning more is needed to provide the same high
Treatment
-studies suggest that school based programs for identifying and providing brief interventions for
high school students is viable
-treatment should be designed to directly prevent the substance use behaviors and to provide
education for the patient and family and to address cognitive, emotional and psychiatric factors
that influence the substance use
-Child and Adolescent Levels of Care Utilization Services (instrument used as a guide for
clinicians in the treatment of adolescents substance use designates levels of care appropriate for
the symptoms
Level 0- Basic Services (prevention) Level 1-Recovery Maintenance (relapse prevention) Level
2- Outpatient (once per week visits) Level 3- Intensive Outpatient (2 or more visits per week)
Level 4-Intensive Integrated Services (day treatment, partial hospitalization, wraparound
services) Level 5- Non-Secure, 24-hour medically monitored service (group home, residential
treatment facility) Level 6- Secure 24-hour medical management (inpatient psychiatric or highly
programmed residential facility)
31.17 Child Psychiatry: Other Conditions
Attenuated Psychosis Syndrome
-new diagnostic category in DSM-5 as a condition for further study
-characterized by subthreshold psychotic syndromes, less severe than those found in psychotic
disorders but which are often present in prodromal psychotic states
-some believe that treatment could delay or diminish the severity of the future psychiatric illness.
Some believe that treatment could lead to unnecessary exposure to antipsychotic medications.
-one study found that those with prodromal syndromes who went on to develop a threshold
psychiatric illness, 73% met criteria for schizophrenia
-early environmental factors that increase the risk of developing schizophrenia include fetal
malnutrition, hypoxia at birth, prenatal infections
Diagnosis
-diagnosis is based on the presence of at least one of the following: delusions, hallucinations, or
disorganized speech, which causes functional impairment. Symptoms must be present at least
once per week for one month and must have emerged or worsened in the past year
-attenuated delusions are described as either suspiciousness, persecutory or grandiose, resulting
in a lack of trust in others, and a sense of danger. Attenuated delusions as compared to delusions
of threshold illness, may lead to loosely organized beliefs about hostile intentions of others. or
danger; however, the delusions are not fixed as they become in full blown psychotic illness.
-attenuated hallucinations include altered sensory perceptions such as perception of murmurs,
rumblings or shadows that are disturbing; but they can be challenged, and skepticism about their
reality is often present
Treatment
-early intervention with both psychological intervention and pharmacological agents can reduce
symptoms and either delay or prevent the onset of full psychotic illness
Academic Problem
-included in DSM-5 under “other conditions” since school failure requires clinical intervention
and influences a child’s level of overall functioning
-adolescents perception of support from their teachers and parents was directly related to their
academic achievement
-academic difficulties and externalizing behavior problems have been found to coexist at higher
rates
-the DSM-5 Academic and Educational problem category is used when a child or adolescent is
having significant academic difficulties that are not caused by a specific learning disorder or
communication disorder or directly related to a psychiatric disorder
-children and adolescents’ competency in general coping with developmental tasks are reflected
in their academic and social success in school
Diagnosis
-this category can be used when an academic or educational problem is the focus of clinical
attention or has an impact on the individual’s diagnosis, treatment, or prognosis
Treatment
-to determine an intervention, an evaluation of educational problems and psychosocial issues is
required
Psychiatric Treatment of Children and Adolescents
-the younger the child, the more extensively family members participate in treatment
-psychotherapy with children focuses on improving adaptive skills as well as diminishing
specific symptomatology.
Psychotherapeutic Techniques and Underlying Theories
-CBT-focuses on alternative ways of dealing with problematic situations
Child Psychoanalysis
-intensive form of psychoanalytic psychotherapy, involves 3-4 sessions/wk and places emphasis
on unconscious resistance and defenses
-Therapist anticipate unconscious resistance and allow transference manifestations to mature to a
full transference neurosis through which neurotic conflicts are ultimately resolved
-usually begin with traumatic experiences that caused unconscious complexes which are subject
to misuse of adaptive maneuvers and defense mechanisms
-Psychoanalytic psychotherapy focuses on expressive and exploratory endeavors to reverse the
evolution of emotional disturbance through reenacting and desensitizing traumatic events
Behavioral Therapy
-what renders behavior abnormal is its social significance
-behavior can be included in two global mechanisms: respondent conditioning (Pavlov) and
operant instrumental learning (influence of reinforcing consequences of behavior)
-emphasizes immediate precipitants of behavior and deemphasizes underlying causal
determinants
-Respondent conditioning theory asserts two types of abnormal behavior: behavior deficits that
result from failure to learn and deviant maladaptive behavior that is a consequence of learning
inappropriate things
-success in therapy comes from rewarding previously unnoticed good behavior and making it
occur more frequently
Family therapy
-the core premise entails the idea of a family as a self regulating, open system that possesses its
own unique history and structure
Chapter 31: CHILD PSYCHIATRY
Observed developmental outcomes evolve from interactions between particular biological
substrates and specific environmental events. For example, the serotonin transporter gene
sensitizes a child with early adverse experiences of abuse or neglect to increased risk for later
development of a depressive disorder.
The degree of resilience and adaptation, that is, the ability to withstand adversity without
negative effects, is likely to be mediated by endogenous glucocorticoids, cytokines, and
neurotrophins. Thus, allostasis, the process of achieving stability in the face of adverse
environmental events, results from interactions between specific environmental challenges and
particular genetic backgrounds that combine to result in a response.
White matter and gray matter in the brains of adolescents are linked to increased acquisition of
subtle social skills.
PRENATAL, INFANT, AND CHILD
The phases of development described in this section are as follows:
– prenatal is the time frame from conception to 8 weeks;
– The fetus, from 8 weeks to birth;
– infancy, from birth to 15 months;
– the toddler period, from 15 months to 2½ years;
– The preschool period, from 2½ years to 6 years;
– The middle years, from 6 to 12 years.
Prenatal Life
Behavior: Some reflexes present at birth exist in utero: the grasp reflex, which appears at 17
weeks; the Moro (startle) reflex, which appears at 25 weeks; and the sucking reflex, which
appears at about 28 weeks.
Pruning: Pruning refers to the programmed elimination during development of neurons,
synapses, axons, and other brain structures from the original number, present at birth, to a lesser
number. Pruning occurs to rid the nervous system of cells that have served their function in the
development of the brain.
Maternal Stress
Maternal stress correlates with high levels of stress hormones (epinephrine, norepinephrine, and
adrenocorticotropic hormone) in the fetal bloodstream, which act directly on the fetal neuronal
network to increase blood pressure, heart rate, and activity level.
Genetic Disorders
In many cases, genetic counseling depends on prenatal diagnosis. The diagnostic techniques used
include amniocentesis (transabdominal aspiration of fuid from the amniotic sac), ultrasound
examinations, x-ray studies, fetoscopy (direct visualization of the fetus), fetal blood andskin
sampling, chorionic villus sampling, and α-fetoprotein screening.
Maternal Drug Use
Alcohol. Alcohol use in pregnancy is a major cause of serious physical and mental birth defects
in children. Each year, up to 40,000 babies are born with some degree of alcohol-related damage.
The National Institute on Drug Abuse (NIDA) reports that 19 percent of pregnant women used
alcohol during their pregnancy, the highest rate being among white women.
Smoking. Smoking during pregnancy is associated with both premature births and below-average
infant birth weight. Some reports have associated sudden infant death syndrome (SIDS) with
mothers who smoke.
Other Substances. Marijuana (used by 3 percent of all pregnant women) and cocaine (used by 1
percent) are the two most commonly abused illegal drugs, followed by heroin. Chronic
marijuana use is associated with low infant birth weight, prematurity, and withdrawal-like
symptoms, including excessive crying, tremors, and hyperemesis (severe and chronic vomiting).
Crack cocaine use by women during pregnancy has been correlated with behavioral
abnormalities such as increased irritability and crying and decreased desire for human contact.
Infants born to mothers dependent on narcotics go through a withdrawal syndrome at birth
INFANCY
The delivery of the fetus marks the start of infancy.
Premature infants are defined as those with a gestation of less than 34 weeks or a birth weight
less than 2,500 g (5.5 lb.). Such infants are at increased risk for learning disabilities, such as
dyslexia, emotional and behavioral problems, mental retardation, and child abuse.
Developmental Milestones in Infants
Reflexes and Survival Systems at Birth. Reflexes are present at birth. They include the rooting
reflex (puckering of the lips in response to perioral stimulation), the grasp reflex, the plantar
(Babinski) reflex, the knee reflex, the abdominal reflexes, the startle (Moro) reflex, and the tonic
neck reflex. In normal children, the grasp reflex, the startle reflex, and the tonic neck reflex
disappear by the fourth month. The Babinski reflex usually disappears by the 12th month.
Language and Cognitive Development
See table: Table 31.1-3
Jean Piaget (1896–1980), a Swiss psychologist, observed the growing capacity of young children
(including his own) to think and to reason. An outline of the Piaget’s stages of cognitive
development is presented in Table 31.1-4.
31.3 Intellectual Disability
A disability characterized by significant limitations in both intellectual functioning (reasoning,
learning, and problem solving) and in adaptive behavior (conceptual, social, and practical skills)
that emerges before the age of 18 years.
Making a determination of severity level of intellectual disability, according to DSM-5, includes
assessment of functioning in a conceptual domain (e.g., academic skills), a social domain (e.g.,
relationships), and a practical domain (e.g., personal hygiene).
DEGREES OF SEVERITY OF INTELLECTUAL DISABILITY
Mild intellectual disability represents approximately 85 percent of persons with intellectual
disability. Children with mild intellectual disability often are not identiOed until the first or
second grade, when academic demands increase. By late adolescence, they often acquire
academic skills at approximately a sixth-grade level. SpeciOc causes for the intellectual
disability are often unidentiOed in this group. Many adults with mild intellectual disability can
live independently with appropriate support and raise their own families. IQ for this level of
adaptive function may typically range from 50 to 70.
Moderate intellectual disability represents about 10 percent of persons with intellectual
disability. Most children with moderate intellectual disability acquire language and can
communicate adequately during early childhood. They are challenged academically and often are
not able to achieve above a second to third grade level. During adolescence, socialization
diQculties often set these persons apart, and a great deal of social and vocational support is
beneOcial. As adults, individuals with moderate intellectual disability may be able to perform
semiskilled work under appropriate supervision. IQ for this level of adaptive function may
typically range from 35 to 50.
Severe intellectual disability represents about 4 percent of individuals with intellectual disability.
They may be able to develop communication skills in childhood and often can learn to count as
well as recognize words that are critical to functioning. In this group, the cause for the
intellectual disability is more likely to be identiOed than in milder forms of intellectual
disability. In adulthood, persons with severe intellectual disability may adapt well to supervised
living situations, such as group homes, and may be able to perform work-related tasks under
supervision. IQ in individuals with this level of adaptive function may typically range from 20 to
35.
Profound intellectual disability constitutes approximately 1 to 2 percent of individuals with
intellectual disability. Most individuals with profound intellectual disability have identiOable
causes for their condition. Children with profound intellectual disability may be taught some
self-care skills and learn to communicate their needs given the appropriate training. IQ in
individuals with this level of adaptive function may typically be less than 20.
EPIDEMIOLOGY
The majority of population-based prevalence estimates for intellectual disability in developing
countries range from 10 to 15 per 1,000 children. The highest incidence of intellectual disability
is reported in school-age children, with the peak at ages 10 to 14 years. Intellectual disability is
about 1.5 times more common among males than females.
COMORBIDITY
Prevalence
Epidemiological surveys indicate that up to two thirds of children and adults with intellectual
disability have comorbid psychiatric disorders; and this rate is several times higher than that in
community samples without intellectual disability. Comorbidity of psychiatric disorders with
intellectual disability in children in this study was not correlated with age or gender. Children
diagnosed with profound intellectual disability were less likely to exhibit comorbid psychiatric
disorders. Psychiatric disorders among persons with intellectual disability are varied, and include
mood disorders, schizophrenia, attentiondeOcit/hyperactivity disorder (ADHD), and conduct
disorder.
Neurological Disorders
Seizure disorders occur more frequently in individuals with intellectual disability than in the
general population, and prevalence rates for seizures increase proportionally to severity level of
intellectual disability.
Psychosocial Features: A negative self-image and poor self-esteem. Communication difficulties
increase their vulnerability to feelings of ineptness and frustration. Inappropriate behaviors, such
as withdrawal, are common. The perpetual sense of isolation and inadequacy has been linked to
feelings of anxiety, anger, dysphoria, and depression.
Genetic Etiological Factors in Intellectual Disability
Single-Gene Causes: The FMR1 gene whose mutations cause fragile X syndrome is the most
common and first X-linked gene to be identified as a direct cause of intellectual disability.
Predisposing factors for chromosomal disorders: among them, advanced maternal age, increased
age of the father, and X-ray radiation
Visible and Submicroscopic Chromosomal Causes of Intellectual Disability: Trisomy 21 (Down
syndrome) is a prototype of a cytogenetically visible abnormality that accounts for about two￾thirds of the 15 percent of intellectual disability attributable to visible abnormal cytogenetics.
Genetic Intellectual Disability and Behavioral Phenotype
Down Syndrome: caused by an extra copy of the entire chromosome 21. In Down syndrome,
language function is a relative weakness, whereas sociability and social skills, such as
interpersonal cooperation and conformity with social conventions, are relative strengths. The
most important signs in a newborn include general hypotonia; oblique palpebral Ossures;
abundant neck skin; a small, Sattened skull; high cheekbones; and a protruding tongue. The
hands are broad and thick, with a single palmar transversal crease, and the little Ongers are short
and curved inward. Moro reSex is weak or absent.
Fragile X Syndrome. Fragile X syndrome is the second most common single cause of
intellectual disability. The syndrome results from a mutation on the X chromosome at what is
known as the fragile site (Xq27.3). The fragile site is expressed in only some cells, and it may be
absent in asymptomatic males and female carriers. s. The typical phenotype includes a large,
long head and ears, short stature, hyperextensible joints, and postpubertal macroorchidism.
Deficits in language function include rapid perseverative speech with abnormalities in combining
words into phrases and sentences. Persons with fragile X syndrome seem to have relatively
strong skills in communication and socialization; their intellectual functions seem to decline in
the pubertal period.
Prader-Willi Syndrome. result from a small deletion involving chromosome 15, occurring
sporadically. Persons with the syndrome exhibit compulsive eating behavior and often obesity,
intellectual disability, hypogonadism, small stature, hypotonia, and small hands and feet.
Cat’s Cry (Cri-du-Chat) Syndrome. Children with cat’s cry syndrome have a deletion in
chromosome 5. They are typically severely intellectually disabled and show many signs often
associated with chromosomal aberrations, such as microcephaly, low-set ears, oblique palpebral
fissures, hypertelorism, and micrognathia. The characteristic cat-like cry that gave the syndrome
its name is caused by laryngeal abnormalities that gradually change and disappear with
increasing age.
Phenylketonuria.
Rett syndrome.
Neurofibromatosis.
Tuberous Sclerosis
Lesch-Nyhan Syndrome.
ACQUIRED AND DEVELOPMENTAL FACTORS
Prenatal Period: Rubella (German measles). Rubella has replaced syphilis as the major cause of
congenital malformations and intellectual disability caused by maternal infection. The children
of affected mothers may show several abnormalities, including congenital heart disease,
intellectual disability, cataracts, deafness, microcephaly, and microphthalmia.
Cytomegalic Inclusion Disease: In many cases, cytomegalic inclusion disease remains dormant
in the mother. Some children are stillborn, and others have jaundice, microcephaly,
hepatosplenomegaly, and radiographic findings of intracerebral calcification. Children with
intellectual disability from the disease frequently have cerebral calcification, microcephaly, or
hydrocephalus. The diagnosis is confirmed by positive findings of the virus in throat and urine
cultures and the recovery of inclusion-bearing cells in the urine. Syphilis. Syphilis in pregnant
women was once the main cause of various neuropathological changes in their offspring,
including intellectual disability. Today, the incidence of syphilitic complications of pregnancy
fluctuates with the incidence of syphilis in the general population. Some recent alarming
statistics from several major cities in the United States indicate that there is still no room for
complacency. Toxoplasmosis. Toxoplasmosis can be transmitted by the mother to the fetus. It
causes mild or severe intellectual disability and, in severe cases, hydrocephalus, seizures,
microcephaly, and chorioretinitis. Herpes Simplex. The herpes simplex virus can be transmitted
transplacentally, although the most comm
Syphilis
Toxoplasmosis
Herpes Simplex
Human Immunodeficiency Virus (HIV).
Fetal Alcohol Syndrome.
Prenatal Drug Exposure
Complications of Pregnancy.
Perinatal Period.
ACQUIRED CHILDHOOD DISORDERS
Infection.
Head Trauma
Asphyxia
Long-term exposures
ENVIRONMENTAL AND SOCIOCULTURAL FACTORS
– Prenatal environment compromised by poor medical care and poor maternal nutrition
may be contributing factors in the development of mild intellectual disability.
– Teenage pregnancies are at risk for mild intellectual disability in the baby due to the
increasedrisk of obstetrical complications, prematurity, and low birth weight.
– Poor postnatal medical care, malnutrition, exposure to toxic substancessuch as lead, and
potential physical trauma are additional risk factors for mild intellectual disabilities.
– Child neglect and inadequate caretaking may deprive an infant of both physical and
emotional nurturances, leading to failure to thrive syndromes.
DIAGNOSIS
The diagnosis of intellectual disability can be made after the history is obtained, using
information from a standardized intellectual assessment, and a standardized measure of adaptive
function indicating that a child is signiOcantly below the expected level in both areas.
The severity of the intellectual disability will be determined on the basis of the level of adaptive
function.
Structured Instruments, Rating Scales and Psychological Assessment
For children ages 6 to 16 years, the Wechsler Intelligence Test for Children is typically
administered.
children ages 3 to 6 years, the Wechsler Preschool and Primary Scale of Intelligence-Revised is
commonly used.
The Stanford-Binet Intelligence Scale, Fourth Edition, has the advantage that it can be
administered to children even younger, starting at age 2 years.
The Kaufman Assessment Battery for Children can be used in children ages 2½ to 12½ years,
whereas the Kaufman Adolescent and Adult Intelligence Test is applicable to a wide range of
ages, from 11 to 85 years.
The Vineland Adaptive Behavior Scales can be used in infants through youth 18 years of age and
includes four basic domains including Communication (Receptive, Expressive, and Written);
Daily Living Skills (Personal, Domestic, and Community); Socialization (Interpersonal
Relations, Play and Leisure, and Coping Skills); Motor Skills (Fine and Gross).
Aberrant Behavior Checklist (ABC) and the Developmental Behavior Checklist (DBC). The
Behavior Problem Inventory (BPI) is a good screening instrument for self-injurious, aggressive,
and stereotyped behaviors. The Psychopathology Inventory for Mentally Retarded Adults
(PIMRA) is utilized to identify the presence of comorbid psychiatric symptoms and disorders
Physical Examination: Dermatoglyphics may offer another diagnostic tool, because uncommon
ridge patterns and Section creases on the hand are often found in persons who are intellectually
disabled. Abnormal dermatoglyphics occur in chromosomal disorders and in persons who were
prenatally infected with rubella.
(SeeTable 31.3-4 for Syndromes with Intellectual Disability and Behavioral Phenotypes)
Neurological Examination: hearing impairment occurs in 10 percent of persons with
intellectual disability, a rate that is four times that of the general population. Seizure disorders
occur in about 10 percent of intellectually disabled populations and in one third of those with
severe intellectual disability. Neurological abnormalities increase in incidence and severity in
direct proportion to the degree of intellectual disability. Disturbances in motor areas are
manifested in abnormalities of muscle tone (spasticity or hypotonia), reflexes (hyperreflexia),
and involuntary movements (choreoathetosis). Less disability may also be associated with
clumsiness and poor coordination.
Clinical Features:
• Mild intellectual disability may not be recognized or diagnosed in a child until school
challenges the child’s social and communication skills.
Cognitive deficits include poor ability to abstract and egocentric thinking.
• Moderate levels of intellectual disability are significantly more likely to be observed at a
younger age, since communication skills develop more slowly and social isolation may
ensue in the elementary school years. These children are aware of their deficits and often
feel alienated from their peers and frustrated by their limitations. They continue to require
a relatively high level of supervision but can become competent occupational tasks in
supportive settings.
• Severe intellectual disability is typically obvious in the preschool years; affected children
have minimal speech and impaired motor development.
• Clinical features frequently observed in populations with intellectual disability either in
isolation or as part of a mental disorder, include hyperactivity, low frustration tolerance,
aggression, affective instability, repetitive and stereotypic motor behaviors, and self￾injurious behaviors.
• Laboratory tests that may elucidate the causes of intellectual disability include
chromosomal analysis, urine and blood testing for metabolic disorders, and
neuroimaging. Chromosomal abnormalities are the single most known common cause of
intellectual disability.
Differential Diagnosis:
Sensory disabilities, especially deafness and blindness, can be mistaken for intellectual
disability when a lack of awareness of the sensory deOcit leads to inappropriate testing.
Expressive and receptive speech disorders may give the impression of intellectual disability
in a child of average intelligence, and cerebral palsy may be mistaken for intellectual
disability. Chronic, debilitating medical diseases may depress and delay a child’s functioning
and achievement, despite normal intelligence. Seizure disorders, especially those that are
poorly controlled, may contribute to persisting intellectual disability.
Intellectual disability and autism spectrum disorder (ASD) often coexist; 70 to 75 percent of
those with ASD have an IQ below 70. In addition, epidemiologic data indicate that ASD
occurs in approximately 19.8% of persons with intellectual disability. Children with ASD
have relatively more severe impairment in social relatedness and language than other
children with the same level of intellectual disability. A child younger than the age of 18
years with significant adaptive functional impairment, with an IQ less than 70, who also
meets diagnostic criteria for dementia, will receive both a diagnosis of dementia and
intellectual disability. However, a child whose IQ drops below 70 after the age of 18 years
with newly acquired cognitive impairment will receive only the diagnosis of dementia.
Treatment: Interventions for children and adolescents with intellectual disability are based
on an assessment of social, educational, psychiatric, and environmental needs. Intellectual
disability is associated with a variety of comorbid psychiatric disorders that often require
specific treatment, in addition to psychosocial support.
Primary Prevention: Primary prevention comprises actions taken to eliminate or reduce the
conditions that lead to development of intellectual disability, as well as associated disorders.
Secondary and Tertiary Prevention: Prompt attention to medical and psychiatric
complications of intellectual disability.
– Educational Interventions.
– Behavioral and Cognitive-Behavioral Interventions
– Family education
– Social intervention
– Psychopharmacologic interventions:
Aggression, Irritability, and Self-injurious Behavior: Risperidone has been well documented as
an efficacious treatment for irritability (aggression, self-injury, and severe tantrums) in children
with ASD.
Attention-Deficit/Hyperactivity Disorder: methylphenidate, clonidine, and risperidone.
Methylphenidate treatment studies have not shown evidence of long-term improvement in social
skills or learning. Risperidone also has been found to be beneficial in reducing symptoms of
ADHD in this population; however, it may produce an increase in serum prolactin level. It is
prudent to begin with a trial of a stimulant medication before the use of antipsychotic agents for
the treatment of ADHD symptoms in intellectual disorder.
Depressive disorders: SSRIs- Fluoxetine, Paroxetine and Sertraline.
Stereotypical Motor Movements: Antipsychotic medications historically, haloperidol (Haldol)
and chlorpromazine, and currently, the atypical antipsychotics are used in the treatment of
repetitive self-stimulatory behaviors in children with intellectual disability when these behaviors
are either harmful to the child or disruptive.
SSRIs such as fluoxetine, fluvoxamine (Luvox), paroxetine, and sertraline have been shown to
have efficacy in treating obsessive-compulsive symptoms in children and adolescents and may
have some efficacy for stereotyped motor movements.
Explosive Rage Behavior: Antipsychotic medications, particularly risperidone, have been shown
to be efficacious for the treatment of explosive rage. βAdrenergic receptor antagonists (beta-
blockers), such as propranolol (Inderal), have been reportedly anecdotally to result in fewer
explosive rages in some children with intellectual disability and ASD.
31.4 COMMUNICATION DISORDERS
(See Table 31.4a-1 Normal Development of Speech, Language, and Nonverbal Skills in
Children).
31.4a Language Disorder
Language disorder consists of difficulties in the acquisition and use of language across many
modalities, including spoken and written, due to deficits in comprehension or production based
on both expressive and receptive skills.
EXPRESSIVE LANGUAGE DEFICITS
Expressive language deficits are present when a child demonstrates a selective deficit in
expressive language development relative to receptive language skills and nonverbal intellectual
function. To meet the DSM-5 criteria for language disorder, patients must have scores on
standardized measures of expressive or receptive language markedly below those of standardized
nonverbal IQ subtests and standardized tests.
Epidemiology: The prevalence of expressive language disturbance decreases with a child’s
increasing age, and overall, it is estimated to be as high as 6 percent in children between the ages
of 5 and 11 years of age. Surveys have indicated rates of expressive language as high as 20
percent in children younger than 4 years of age. In school-age children over the age of 11 years,
the estimates are lower, ranging from 3 percent to 5 percent. The disorder is two to three times
more common in boys than in girls and is most prevalent among children whose relatives have a
family history of phonologic disorder or other communication disorders.
Etiology: limited magnetic resonance imaging (MRI) studies suggest that language disorders are
associated with diminished left–right brain asymmetry in the perisylvian and planum temporale
regions.
Diagnosis: Language disorder of the expressive disturbance type is diagnosed when a child has a
selective deficit in language skills and is functioning well in nonverbal areas. Markedly below￾age-level verbal or sign language, accompanied by a low score on standardized expressive verbal
tests, is diagnostic of expressive deficits in language disorder.
characterized by the following features: limited vocabulary, simple grammar, and variable
articulation. “Inner language” or the appropriate use of toys and household objects is present.
The Carter Neurocognitive Assessment, itemizes and quantifies skills in areas of social
awareness, visual attention, auditory comprehension, and vocal communication even when there
are compromised expressive language and motor skills in very young children up to 2 years of
age. To confirm the diagnosis, a child is given standardized expressive language and nonverbal
intelligence tests. Observations of children’s verbal and sign language patterns in various settings
(e.g., school yard, classroom, home, and playroom) and during interactions with other children
help ascertain the severity and specific areas of a child’s impairment and aid in early detection of
behavioral and emotional complications. Family history should include the presence or absence
of expressive language disorder among relatives.
Clinical Features Children with expressive language deficits are vague when telling a story and
use many Oller words such as “stuff” and “things” instead of naming specific objects.
Articulation is often immature; numerous articulation errors occur but are inconsistent,
particularly with such sounds as th, r, s, z, y, and l, which are either omitted or are substituted
for other sounds. By the age of 4 years, most children with expressive language disturbance
can speak in short phrases, but may have difficulty retaining new words
Differential Diagnosis:
In mixed receptive–expressive language disorder, language comprehension (decoding) is
markedly below the expected age-appropriate level, whereas in expressive language disorder,
language comprehension remains within normal limits.
In autism spectrum disorders, children often have impaired language, symbolic and imagery
play, appropriate use of gesture, or capacity to form typical social relationships. In contrast,
children with expressive language disorder become very frustrated with their disorder, and
are usually highly motivated to make friends despite their disability.
Children with acquired aphasia or dysphasia have a history of early normal language
development; the disordered language had its onset after a head trauma or other neurologic
disorder (e.g., a seizure disorder).
Children with selective mutism have normal language development. Often these children
will speak only in front of family members (e.g., mother, father, and siblings). Children
affected by selective mutism are socially anxious and withdrawn outside the family.
Pathology and Laboratory Examination: Children with speech and language disorders should
have an audiogram to rule out hearing loss.
Treatment
The primary goals for early childhood speech and language treatment are to guide children and
their parents toward greater production of meaningful language
MIXED RECEPTIVE AND EXPRESSIVE DEFICITS: Children with both receptive and
expressive language impairment may have impaired ability in sound discrimination, deficits in
auditory processing, or poor memory for sound sequences. Children with mixed receptive–
expressive disturbance exhibit impaired skills in the expression and reception (understanding and
comprehension) of spoken language. Language difficulties must be sufficiently severe to impair
academic achievement or daily social communication. Mixed receptive expressive language
disturbance is believed to occur in about 5 percent of preschoolers and to persist in
approximately 3 percent of school-age children. It is believed to be at least twice as prevalent in
boys as in girls.
Diagnosis: A markedly below-expected level of comprehension of verbal or sign language with
intact age-appropriate nonverbal intellectual capacity, confirmation of language difficulties by
standardized receptive language tests, and the absence of autism spectrum disorder, confirm the
diagnosis of mixed receptive–expressive language deficits.
Clinical features: The clinical features of mixed receptive–expressive language disturbance in
children between the ages of 18 and 24 months result from a child’s failure to utter a single
phoneme spontaneously or to mimic another person’s words. Many children with mixed
receptive–expressive language deOcits have auditory sensory diQculties and compromised
ability to process visual symbols, such as explaining the meaning of a picture.
A child with mixed receptive–expressive language deOcits may appears to be deaf. He or she
responds normally to sounds from the environment, but not to spoken language. If the child later
starts to speak, the speech contains numerous articulation errors, such as omissions, distortions,
and substitutions of phonemes. Children with mixed receptive–expressive language disturbance
have diQculty recalling early visual and auditory memories and recognizing and reproducing
symbols in proper sequence. Some children with mixed receptive–expressive language deOcits
have a partial hearing defect for true tones, an increased threshold of auditory arousal, and an
inability to localize sound sources. Seizure disorders and reading disorder are more common
among the relatives of children with mixed receptive–expressive problems than in the general
population.
Pathology and Laboratory Examination: An audiogram is indicated for all children thought to
have mixed receptive–expressive language disturbance to rule out or conOrm the presence of
deafness or auditory deOcits. A history of the child and family and observation of the child in
various settings help to clarify the diagnosis.
Treatment A comprehensive speech and language evaluation is recommended for children with
mixed receptive–expressive language disturbance. Psychotherapy may be helpful for children
with mixed language disorder who have associated emotional and behavioral problems.
Particular attention should be paid to evaluating the child’s self-image and social skills. Family
counseling in which parents and children can develop more effective, less frustrating means of
communicating may be beneficial.
31.4b Speech Sound Disorder
Epidemiologic studies suggest that the prevalence of speech sound disorder is at least 3 percent
in preschoolers, 2 percent in children 6 to 7 years of age, and 0.5 percent in 17-year-old
adolescents. Approximately 7 to 8 percent of 5-year-old children in one large community sample
had speech sound production problems of developmental, structural, or neurological origins.
Another study found that up to 7.5 percent of children between the ages of 7 and 11 years had
speech sound disorders
DIAGNOSIS The essential feature of speech sound disorder is a child’s delay or failure to
produce developmentally expected speech sounds, especially consonants, resulting in sound
omissions, substitutions, and distortions of phonemes.
TREATMENT Two main approaches have been used successfully to improve speech sound
difficulties. The first one, the phonological approach, is usually chosen for children with
extensive patterns of multiple speech sound errors that may include final consonant deletion, or
consonant cluster reduction. Exercises in this approach to treatment focus on guided practice of
specific sounds, such as final consonants, and when that skill is mastered, practice is extended to
use in meaningful words and sentences. The other approach, the traditional approach is utilized
for children who produce substitution or distortion errors in just a few sounds. In this approach,
the child practices the production of the problem sound while the clinician provides immediate
feedback and cues concerning the correct placement of the tongue and mouth for improved
articulation.
31.4c Child-Onset Fluency Disorder (Stuttering)
An epidemiologic survey of 3- to 17-year-olds derived from the United States National Health
Interview Surveys reports that the prevalence of stuttering is approximately 1.6 percent.
Stuttering tends to be most common in young children and has often resolved spontaneously by
the time the child is older. The typical age of onset is 2 to 7 years of age, with 90 percent of
children exhibiting symptoms by age 7 years. Approximately 65 to 80 percent of young children
who stutter are likely to have a spontaneous remission over time. According to the DSM5, the
rate dips to 0.8 percent by adolescence. Stuttering aPects about three to four males for every one
female.
ETIOLOGY Converging evidence indicates that cause of stuttering is multifactorial, including
genetic, neurophysiological, and psychological factors that predispose a child to have poor
speech fluency.
Four gradually evolving phases in the development of stuttering have been identified:
Phase 1 occurs during the preschool period. Initially, the difficulty tends to be episodic and
appears for weeks or months between long interludes of normal speech.
Phase 2 usually occurs in the elementary school years. The disorder is chronic, with few if any
intervals of normal speech. Affected children become aware of their speech diffculties and
regard themselves as stutterers.
Phase 3 usually appears after the age of 8 years and up to adulthood, most often in late childhood
and early adolescence.
Phase 4 typically appears in late adolescence and adulthood.
TREATMENT: Lidcombe Program, which is based on an operant conditioning model in which
parents use praise for periods of time in which the child does not stutter, and intervene when the
child does stutter to request the child to self-correct the stuttered word. This treatment program is
largely administered at home by parents, under the supervision of a speech and language
therapist. A second treatment program being investigated in clinical trials is a family-based,
parent-child interaction therapy that identifies stressors possibly associated with increased
stuttering and aims to diminish these stressors. A third treatment currently under investigation in
clinical trials is based on the knowledge that speaking each syllable in time to a particular rhythm
has led to diminished stuttering in adults.
31.4d Social (Pragmatic) Communication Disorder
Social (pragmatic) communication disorder is a newly added diagnosis to DSM-5 characterized
by persistent deOcits in using verbal and nonverbal communication for social purposes in the
absence of restricted and repetitive interests and behaviors. Deficits may be exhibited by
difficulty in understanding and following social rules of language, gesture, and social context.
This may limit a child’s ability to communicate ePectively with peers, in academic settings, and
in family activities
31.5 AUTISM SPECTRUM DISORDER
31.5 Autism Spectrum Disorder Autism spectrum disorder, previously known as the pervasive
developmental disorders, is a phenotypically heterogeneous group of neurodevelopmental
syndromes, with polygenic heritability, characterized by a wide range of impairments in social
communication and restricted and repetitive behaviors
A number of known genetically caused syndromes include autism spectrum disorder as part of a
broader phenotype. The most common of these inherited disorders is fragile X syndrome, an X￾linked recessive disorder that is present in 2 to 3 percent of individuals with autism spectrum
disorder. Fragile X syndrome exhibits a nucleotide repeat in the 5’ untranslated region of the
FMNR1 gene, resulting in symptoms of autism spectrum disorder. Children with fragile X
syndrome characteristically exhibit intellectual disability, gross and One motor impairments, an
unusual facies, macroorchidism, and signiOcantly diminished expressive language ability.
The most signiOcant prenatal factors associated with autism spectrum disorder in the oPspring
are advanced maternal and paternal age at birth, maternal gestational bleeding, gestational
diabetes, and Orst-born baby. Perinatal risk factors for autism spectrum disorder include
umbilical cord complications, birth trauma, fetal distress, small for gestational age, low birth
weight, low 5-minute Apgar score, congenital malformation, ABO blood group system or Rh
factor incompatibility and hyperbilirubinemia. Many of the obstetrical complications that are
associated with risk for autism spectrum disorder are also risk factors for hypoxia, which may be
an underlying risk factor itself.
(See Table 31.5-1 DSM-5 Diagnostic Criteria for Autism Spectrum Disorder).
Core Symptoms of Autism Spectrum Disorder
Persistent Deficits In Social Communication and Interaction.
Restricted, Repetitive Patterns of Behavior, Interests, and Activities.
Disturbances In Language Development and Usage
Intellectual Disability
Irritability
Instability of Mood and Affect
Response to Sensory Stimuli: Children with autism spectrum disorder have been observed to
overrespond to some stimuli and underrespond to other sensory stimuli.
Hyperactivity and Inattention.
Precocious Skills
Insomnia
Minor Infections and Gastrointestinal Symptoms
Assessment Tools
A standardized instrument that can be very helpful in eliciting comprehensive information
regarding autism spectrum disorder is the Autism Diagnostic Observation Schedule-Generic
(ADOS-G).
DIFFERENTIAL DIAGNOSIS
Disorders to consider in the diPerential diagnosis of autism spectrum disorder include social
(pragmatic) communication disorder, the newly described DSM-5 communication disorder;
schizophrenia with childhood onset; congenital deafness or severe hearing disorder; and
psychosocial deprivation.
Social (Pragmatic) communication disorder
Childhood Onset Schizophrenia
Intellectual Disability with Behavioral Symptoms
Language Disorder
Congenital Deafness or Hearing Impairment
Psychosocial Deprivation
TREATMENT
The goals of treatment for children with autism spectrum disorder are to target core behaviors to
improve social interactions, communication, broaden strategies to integrate into schools, develop
meaningful peer relationships, and increase long-term skills in independent living.
Psychosocial Interventions
Early Intensive Behavioral and Developmental Interventions
1. UCLA/Lovaas-based Model. This intensive and manualized intervention primarily utilizes
techniques derived from applied behavior analysis, which is administered on a one-to-one basis
for many hours per week. A therapist and a child will work on practicing speciOc social skills,
language usage, and other target play skills, with reinforcement and rewards provided for
accomplishments and mastery of skills.
2. Early Start Denver Model (ESDM) Interventions are administered in naturalistic settings such
as in day care, at home, and during play with other children. Parents are typically taught to be co￾therapists and provide the training at home while educational settings also provide the
interventions. The focus of the interventions is on developing basic play skills and relationship
skills, and applied behavior analysis techniques are integrated into the interventions. This
approach is focused on training for very young children and is applied within the context of the
child’s daily routine.
3. Parent Training Approaches This includes Pivotal Response Training, in which parents are
taught to facilitate social and communication development within the home and during activities
by targeting gateway or pivotal social behaviors for mastery by the child with the expectation
that once these central social skills were mastered, a natural generalizing of social behaviors
would follow. Extensive parent and family components are integrated into this type of
intervention. Other parent training approaches focus on language acquisition, and for parents,
may be administered at a lower intensity such as weekly; however, once parents are trained, the
interventions occur throughout the day with the child. Another example of a parent training
approach is the Hanen More Than Words Program
Social Skills Approaches
1. Social Skills Training. Typically provided by therapeutic leaders to children of various ages
in a group setting with peers; children are given guided practice in initiating social conversation,
greetings, initiating games, and joint attention. Emotion identiOcation and regulation are often
included in practice with recognizing and learning how to label emotions in given social
situations, learning to attribute appropriate emotional reactions in others, and social problem￾solving techniques. The goals are that with practice in the group setting, the child will be able to
use the techniques in less-structured settings and internalize strategies to interact positively with
peers. Behavioral Interventions (BIs) and Cognitive-Behavioral Therapy (CBT) for Repetitive
Behaviors and Associated Symptoms 1. Behavioral Therapy. Applied behavioral analysis has
been found to be somewhat ePective in reducing some repetitive behaviors in children and
adolescents with autism spectrum disorder. Early intervention is recommended for repetitive
behaviors that are self-injurious; behavioral interventions may need to be combined with
pharmacologic treatments to adequately manage the symptoms.
2. Cognitive-Behavioral Therapy. There is a signiOcant evidence base from RCTs for the
eQcacy of CBT for symptoms of anxiety, depression, and obsessive-compulsive disorders in
children. There are fewer controlled trials of this treatment in children with autism spectrum
disorder, although there are at least two published studies in which CBT was used to treat
repetitive behavior in individuals with autism spectrum disorder.
Educational interventions for children with autism spectrum disorder
1. Treatment and Education of Autistic and Communication-related Handicapped children
(TEACCH). Originally developed at the University of North Carolina at Chapel Hill in the
1970s, TEACCH involves structured teaching based on the notion that children with autism
spectrum disorder have diQculty with perception, and so this teaching method incorporates many
visual supports and a picture schedule to aid in teaching academic subjects as well as socially
appropriate responses. The physical environment is arranged to support visual learning, and the
day is structured to promote autonomy and social relatedness.
2. Broad-based approaches. These educational plans include a blend of teaching strategies that
use behavioral analysis and also focus on language remediation. Behavioral reinforcement is
provided for socially acceptable behaviors while academic subjects are being taught. TEACCH
may also be incorporated into a broader special educational program for autism spectrum
disorder.
3. Computer-based approaches and virtual reality. Computer-based approaches and virtual reality
teaching are centered on using computer-based programs, games, and interactive programs to
teach language acquisition and reading skills. This provides the child with a sense of mastery and
delivers a behaviorally based instruction in a modality that is appealing for the child. The Let’s
Face It! program is a computerized game that helps to teach children with autism spectrum
disorder to recognize faces.
Psychopharmacological Interventions
Irritability: Two second-generation antipsychotics, risperidone and aripiprazole, have been
approved by the Food and Drug Administration (FDA) in the United States for treatment of
irritability in individuals with autism spectrum disorder. Risperidone, a highpotency
antipsychotic with combined dopamine (D2) and serotonin (5-HT2) receptor antagonist
properties, has been shown to subdue aggressive or self-injurious behaviors in children with and
without autism spectrum disorder.
Hyperactivity, Impulsivity, and Inattention. Several randomized placebo-controlled trials of
methylphenidate have been conducted for the treatment of hyperactivity, impulsivity, and
inattention in children and adolescents with autism spectrum disorder.
Repetitive and Stereotypic Behavior. These core symptoms of autism spectrum disorder have
been studied using selective serotonin reuptake inhibitor (SSRI) antidepressants, second￾generation antipsychotics (SGAs), and mood-stabilizing agents such as valproate. One study
with fluoxetine found the medication group only slightly better and not significantly better than
the placebo group regarding the target symptoms, and another trial with escitalopram found no
difference between groups. Risperidone, however, was found to be effective in targeting
irritability, and restrictive and repetitive behaviors were improved.
DISORDERS INCLUDED IN AUTISTIC SPECTRUM DISORDER
Rett Syndrome
Childhood Disintegrative Disorder
Asperger’s Disorder
Pervasive Developmental Disorder Not Otherwise Specified
31.6 Attention Deficit/Hyperactivity Disorder
ATTENTION-DEFICIT/HYPERACTIVITY DISORDER
ADHD is a neuropsychiatric condition affecting preschoolers, children, adolescents, and adults.
Dopamine continues to be a focus of investigation regarding ADHD symptoms. The prefrontal
cortex of the brain has been implicated because of its high utilization of dopamine and its
reciprocal connections with other brain regions involved in attention, inhibition, decision￾making, response inhibition, working memory, and vigilance. ADHD aPects up to 5 to 8 percent
of school-aged children, with 60 to 85 percent of those diagnosed as children continuing to meet
criteria for the disorder in adolescence, and up to 60 percent continuing to be symptomatic into
adulthood.
Epidemiology: Rates of ADHD have been reported to be 7 to 8 percent in prepubertal
elementary school children. Epidemiologic studies suggest that ADHD occurs in about 5 percent
of youth including children and adolescents, and about 2.5 percent of adults. The rate of ADHD
in parents and siblings of children with ADHD is 2 to 8 times greater than in the general
population. ADHD is more prevalent in boys than in girls, with the ratio ranging from 2:1 to as
high as 9:1.
Neuroanatomical Aspects: Researchers have hypothesized networks within the brain for
promoting components of attention including focusing, sustaining attention, and shifting
attention. They describe neuroanatomical correlations for the superior and temporal cortices with
focusing attention; external parietal and corpus striatal regions with motor executive functions;
the hippocampus with encoding of memory traces; and the prefrontal cortex with shifting from
one stimulus to another. Further hypotheses suggest that the brainstem, which contains the
reticular thalamic nuclei function, is involved in sustained attention. A review of magnetic
resonance imaging (MRI), positron emission tomography (PET), and single photon emission
computerized tomography (SPECT) suggests that populations of children with ADHD show
evidence of both decreased volume and decreased activity in prefrontal regions, anterior
cingulated, globus pallidus, caudate, thalamus, and cerebellum. PET scans have also shown that
female adolescents with ADHD have globally lower glucose metabolism than both control
female and male adolescents without ADHD. One theory postulates that the frontal lobes in
children with ADHD do not adequately inhibit lower brain structures, an effect leading to
disinhibition.
Diagnosis: Distinguishing features of ADHD are short attention span and high levels of
distractibility for chronological age and developmental level. In school, children with ADHD
often exhibit difficulties following instructions and require increased individualized attention
from teachers. At home, children with ADHD frequently have difficulty complying with their
parents’ directions and may need to be asked multiple times to complete relatively simple tasks.
Children with ADHD typically act impulsively, are emotionally labile, explosive, lack focus, and
are irritable.
Clinical Features: ADHD can have its onset in infancy, although it is rarely recognized until a
child is at least toddler age. More commonly, infants with ADHD are active in the crib, sleep
little, and cry a great deal. In school, children with ADHD may attack a test rapidly, but may
answer only the Orst two questions. They may be unable to wait to be called on in school and
may respond before everyone else. At home, they cannot be put off for even a minute.
Impulsiveness and an inability to delay gratification are characteristic. Children with ADHD are
often susceptible to accidents. The most cited characteristics of children with ADHD, in order of
frequency, are hyperactivity, attention deficit (short attention span, distractibility, perseveration,
failure to Onish tasks, inattention, poor concentration), impulsivity (action before thought, abrupt
shifts in activity, lack of organization, jumping up in class), memory and thinking deficits,
specific learning disabilities, and speech and hearing deficits.
Differential Diagnosis:
A temperamental constellation of high activity level and short attention span, in the normal range
for the child’s age, and without impairment, should be ruled out. Anxiety in a child needs to be
evaluated. Anxiety can accompany ADHD as a symptom or comorbid disorder, and anxiety can
manifest with overactivity and easy distractibility.
Mania
oppositional defiant disorder
Learning disorders.
Treatment:
Pharmacotherapy: Pharmacologic treatment is considered the first line of treatment for ADHD.
Central nervous system stimulants are the first choice of agents in that they have been shown to
have the greatest efficacy with generally mild tolerable side effects. Stimulants are
contraindicated in children, adolescents, and adults with known cardiac risks and abnormalities.
Nonstimulant medications approved by the FDA in the treatment of ADHD include atomoxetine
(Strattera), a norepinephrine uptake inhibitor. Unlike the stimulants, Strattera carries with it a
black box warning for potential increases in suicidal thoughts or behaviors and requires children
with ADHD to be monitored for these symptoms, similarly to children who are administered
antidepressants. A-agonists including clonidine (Catapres) and guanfacine (Tenex) have also
been found to be effective in treating ADHD.
. In children with a history of motor tics, some observations must be made as, in some cases,
methylphenidate can exacerbate the tics, whereas in other children the tics are unaffected or even
improved. Because tics wax and wane, it is important to observe their patterns over some time.
Another common concern about use of methylphenidate preparations over long periods is
potential growth suppression. During periods of use, methylphenidate is associated with slightly
decreased rates of growth, and if used over many years continuously without any drug holidays
growth suppression of about several centimeters has been noted. When given “drug holidays” on
weekends or summers, children tend to eat more and also make up the growth.
Dextroamphetamine and dextroamphetamine/amphetamine salt combinations are usually the
second drugs of choice when methylphenidate is not effective. Vyvanse is advantageous because
it is inactive until it is metabolized.
NONSTIMULANT MEDICATIONS: Atomoxetine HCl (Strattera) is a norepinephrine uptake
inhibitor approved by the FDA for the treatment of ADHD in children age 6 years and older. The
mechanism of action is not well understood, but it is believed to involve selective inhibition of
presynaptic norepinephrine transporter. Atomoxetine is well absorbed by the gastrointestinal
tract, and maximal plasma levels are reached in 1 to 2 hours after ingestion. It has been shown to
be effective for inattention as well as impulsivity in children and in adults with ADHD. Its half￾life is approximately 5 hours, and it is usually administered twice daily. Most common side
effects include diminished appetite, abdominal discomfort, dizziness, and irritability. In some
cases, increases in blood pressure and heart rate have been reported. Atomoxetine is metabolized
by the cytochrome P450 (CYP) 2D6 hepatic enzyme system. A small fraction of the population
are poor metabolizers of CYP 2D6–metabolized drugs and, for those individuals, plasma
concentrations of the drug may rise as much as fivefold for a given dose of medication. Drugs
that inhibit CYP 2D6, including fluoxetine, paroxetine, and quinidine, may lead to increased
plasma levels of this medication.
α-Agonists, short-acting, and the extended-release forms of clonidine hydrochloride (Kapvay)
and Guanfacine (Intuniv) are FDA approved for the treatment of ADHD in children and
adolescents from 6 to 7 years of age. Kapvay, a centrally acting α-2-adrenergic receptor agonist
is believed to exert its ePect on the prefrontal cortex.
Tricyclic drugs are not recommended in the treatment of ADHD due to potential cardiac
arrhythmia effects.
A variety of strategies have been suggested for children and/or adolescents with ADHD who
respond favorably to methylphenidate, but for whom insomnia has become a significant problem.
Clinical strategies to manage insomnia include use of diphenhydramine (25 to 75 mg), low dose
of trazodone (25 to 50 mg), or the addition of an α-adrenergic agent, such as guanfacine.
At baseline, the most recent American Academy of Child and Adolescent Psychiatry (AACAP)
practice parameters recommend the following workup before starting use of stimulant
medications: physical examination, blood pressure, pulse, weight, and height. It is recommended
that children and adolescents being treated with stimulants have their height, weight, blood
pressure, and pulse checked on a quarterly basis and have a physical examination annually.
Treatment of ADHD in adults targets pharmacotherapy, mainly long-acting stimulants, similar to
that used with children and adolescents with ADHD. In adults, only the long-acting stimulants
are FDA approved in the treatment of ADHD. Signs of a positive response are an increased
attention span, decreased impulsiveness, and improved mood. Psychopharmacological therapy
may be needed indefinitely. Clinicians should use standard ways to monitor drug response and
patient compliance.
31.15 Early-Onset Schizophrenia
• Composed of childhood onset and adolescent onset schizophrenia
Childhood Onset
• Childhood onset very rare and now recognized as progressive neurodevelopment
disorder
• Characterized by a more chronic course with severe social and cognitive consequences
and increased negative symptoms compared to adult onset.
• Psychotic symptoms begin before age 13
• There in increase heritable etiology and evidence of widespread abnormalities in the
development of the brain including the cerebral cortex, white matter, hippocampus, and
cerebellum
• Children with this disorder have higher than normal rates of premorbid developmental
abnormalities
• Have more significant deficits in measures of intelligence, memory, and tests of
perceptomotor skills compared to adolescent onset
• Clinical presentation of the disorder remains similar across the lifespan
• A failure to achieve expected in social and academic functioning may replace
deterioration in functioning
• The diagnosis includes an active phase of the illness, consisting of at least 1 of the
following three symptoms: delusions, hallucinations, or disorganized speech, and at least
one additional symptom present most of the time for a month.
• The additional symptoms may be another one of the preceding three symptoms
(above), or one of the following two symptoms: grossly disorganized or catatonic behavior,
or negative symptoms (diminished emotional expression or avolition)
• Symptoms are present for a significant amount of time during a single month and cause
impairment
• To meet full criteria, symptoms cause persistent disturbance for at least 6 months.
• Social, academic, or occupational impairment must be present
• Clinician-rated Dimension of Psychosis Symptom Severity is used to determine the
severity of psychosis
Adolescent Onset
• Defined as and onset of the disorder before age 18.
• Associated with severe disease course, poor psychological functioning, and increased
severity in brain abnormality.
Historical Perspective
• Before 1960s, the term childhood psychosis was applied to children with autism
spectrum disorder without hallucinations and delusions, the disorders were separated in
1980s
• Reports of evidence of profound psychotic disturbance very early in
life included observations of intellectual disabilities, social deficits, and severe
communications and language impairments, and no family history of schizophrenia
• Childhood onset is significantly less frequent than adolescent and adult onset
Epidemiology
• The frequency is reported less than one case in about 40,000 in childhood onset
• Prevalence in adolescent onset: 50 times that of childhood onset, 1-2 per 1000
• Schizophrenia with childhood onset resembles the more severe chronic, and treatment￾refractory adult-onset schizophrenic subgroups.
• Extremely high rates of comorbidities are present including, ADHD, depressive
disorders, anxiety disorders, speech and language disorders, and motor disturbances.
• Boys seems to have a slight preponderance among children, with estimated ratio of
about 1.67 boys to 1 girl.
• Boys often become more identified at a younger age than girls, rarely diagnosed before
5 years old.
• The prevalence of schizophrenia among the parents of children is about 8 percent.
Etiology
• Neurodevelopmental disorder in which complex interactions between genes and the
environment are presumed to result in abnormal early brain development.
• Heritability for childhood onset is 80 percent, up to eight times more prevalent among
first degree relatives of those with schizophrenia
MRI studies
• Study shows progressive loss of gray matter, delayed and disrupted white matter
growth, and a decline in the cerebellar volume. Hippocampus loss across the age span
appears to be static in children
• Gray matter shrinkage occurs with ventricular increases, with a pattern loss of the
originating parietal region and proceeding frontally to dorsolateral prefrontal and temporal
cortices, including temporal gyri
• Early loss of parietal gray matter followed by frontal and parietal gray matter loss if
more pronounced in childhood onset
• Abnormal activity found in parietal lobes connectivity
Diagnosis and Clinical features
• Youth with schizophrenia are more likely to have a premorbid history of social rejection,
poor peer relationships, clingy withdrawn behavior, and academic trouble than those with
adult onset
• Some have early histories of delayed motor milestones and language acquisition
• Onset is usually insidious, starting with inappropriate affect or unusual behavior. It may
take months or years for children to meet the full criteria.
• Auditory hallucinations commonly occur in children, voices may reflect an ongoing
critical commentary, or command hallucinations may instruct children to harm or kill
others.
• Hallucination voices may sound human or animal, or bizarre.
• Children may describe voices as a computer in my head or the voice of someone familiar
like a relative.
• Visual hallucinations associated with lower IQ and earlier age onset
• Visual hallucinations are frightening, children may describe them as images of the devil,
skeletons, scary faces, or space creatures.
• Transient phobic visual hallucinations may occur in severely anxious or traumatized
children who do not develop major psychotic disorders
• Delusions occur in up to half of children and adolescents with schizophrenia, increasing
in frequency as the age
• Blunted or inappropriate affect appears almost universally
• Children may giggle or cry inappropriately without being able to explain why
• Loose association and thought blocking are common
• Illogical thinking and poverty of thought are present
• Unlike adults, children do not have poverty of speech, but they speak less than other
children with the same intelligence and are ambiguous in the way they refer to persons,
objects, and events.
• Communication deficits include changing the topic of the conversation without
introducing a new topic (loose associations)
• Illogical thinking and speaking are common
• Children with this disorder fail to aid communication with revision, fillers, or starting
over
Differential Diagnosis
• ASD
• Bipolar disorder
• Depressive psychotic disorder
• Multicomplex developmental disorders
• Drug-induced psychosis
• Psychosis induced by organic causes
• Comorbidities include ADHD, ODD, MDD
Children with schizotypal personality disorder can have some traits in common, but children with
schizophrenia hallucinations, delusions, and incoherence, must be present at some point.
• Hallucinations alone are not evidence of schizophrenia. There must be a deterioration of
function or the inability to meet an expected developmental level
Course and Prognosis
• Predictors of poorer course include family history, young age, insidious onset,
developmental delays, and lower level of premorbid functioning, and chronic length of first
psychotic episode.
Treatment
• Treatment requires a multimodal approach including CBT, group skills training, cognitive
remediation therapy, multifamily psychoeducations
• Children may have less robust response to antipsychotic medications.
Pharmacotherapy
• Second generation antipsychotics
• Randomized control trials support use of risperidone, olanzapine, aripiprazole, and
clozapine.
Psychosocial interventions
• Aimed at family education and patient and family support are recognized as critical
component for recovery