C. A child of 4 years (48 months) should have acquired all of the following skills:

B. Decreased GABA levels may cause convulsions. GABA is chiefly confined to the brain and spinal cord. It acts as a postsynaptic inhibitory neurotransmitter in the cerebral and cerebellar cortices. In the spinal cord, it mediates the postsynaptic inhibition of the afferent pathways. Benzodiazepines, newer hypnotics such as zopiclone, and alcohol act on GABA-A receptors coupled to chloride ion channels, which on activation result in an influx of chloride ions and rapid depolarization causing inhibition. The GABA-B receptors in the brain increase K+ conductance and produce slow inhibitory potentials through inhibition of cyclic adenosine monophosphate (cAMP).

C. Immature defenses are seen in adolescents and some non-psychotic patients, and include: acting out, blocking, hypochondriasis, introjection, passive-aggressive behavior, regression, schizoid fantasy, and somatization. Blocking is temporarily or transiently inhibiting thinking. Introjection is an immature defense that involves internalizing the qualities of an object to obliterate the distinction between the subject and object (e.g., identification with the aggressor). Schizoid fantasy is indulging in autistic retreat in order to resolve conflict and to obtain gratification (the person does not fully believe in the fantasies and does not insist on acting them out). Somatization is the conversion of psychic derivatives into bodily symptoms and reacting with somatic manifestations. Reaction formation is a neurotic defense involving transforming an unacceptable impulse into its opposite, and is characteristic of obsessional neurosis.

E. Malpractice claims experienced by the Psychiatrist’s Purchasing Group, the liability insurer of members of the American Psychiatric Association, reveal the following approximate frequencies of alleged claims by percentage: incorrect treatment (33%), attempted or completed suicide (20%), incorrect diagnosis (11%), improper supervision (7%), improper commitment (5%), breach of confidentiality (4%), undue familiarity (3%), libel or slander (2%), and other (i.e., abandonment, ECT, or third-party injury) (4%).

C. This patient is most likely experiencing hypnagogic hallucinations. Hypnagogic and hypnopompic hallucinations are hallucinations that occur right before going to sleep and right after waking up, respectively. These can present in normal people and are also characteristic of narcolepsy. This patient does not meet criteria for brief psychotic disorder or schizophrenia. Charles Bonnet syndrome occurs in patients who become visually impaired and suffer from pseudo-hallucinations.

E. The DSM-IV-TR states that tactile and olfactory hallucinations may be present in delusional disorder, if they are related to the delusional theme. Delusional disorder is characterized by nonbizarre delusions of a least 1 month’s duration. Apart from the impact of the delusion(s) or its ramifications, the patient’s functioning is not markedly impaired and behavior is not obviously odd or bizarre. The delusions cannot be due to a primary mood disorder, direct physiological effects of a substance, or a general medical condition.

B. This man appears to be suffering from Koro. Koro is a term of Malaysian origin, and is the name given to the onset of sudden anxiety that the genitals will recede into the body, causing death. It has been reported in South and East Asia. It occasionally occurs in epidemic form in East Asian areas. This belief goes hand in hand with panic, fear, or anxiety. A proposed diagnostic criterion is that apart from the fear of death, the belief in genital retraction, and the efforts to prevent it, the individual should not have met criteria for any axis I disorder (other than somatoform disorder) and there are no organic explanations for this behavior. Dhat is an Indian culture-bound syndrome characterized by anxiety regarding the discharge of semen and feelings of weakness. Qi-Gong psychotic reaction is an episode characterized by dissociative/paranoid/psychotic/nonpsychotic symptoms associated with the Chinese health-enhancing practice of qi-gong. Rootwork is seen in the southern United States among African American, European American, and Caribbean societies. It is the attribution of illness to witchcraft, hexing, and sorcery. Shin-Byung is a Korean culture-bound syndrome characterized by a phase of anxiety, followed by dissociation and possession by ancestral spirits.

C. Disorganized Schizophrenia was first described by Ewald Hecker, who called it hebephrenia. This term continues to be used in ICD-10. Karl Kahlbaum was his supervisor, and he coined the term catatonia. Kurt Schneider described the “first rank” symptoms of schizophrenia. Emil Kraepelin coined the term dementia preacox and distinguished Schizophrenia from affective psychosis. He provided detailed case presentations of Schizophrenia. Eugen Bleuler coined the term Schizophrenia.

E. Fluctuating mental status occurs frequently in DLB, with some studies suggesting a prevalence of 50% to 70%. Fluctuations are often dramatic and mimic delirium. The delirium associated with DLB is characterized by daytime drowsiness and lethargy, daytime sleep of 2 or more hours, persistent motionless stare, and episodic flow of ideas which are disorganized, unclear, or not logical.

D. The safety and efficacy of the SSRIs, such as sertraline, make this class of medication the first-line treatment for Panic Disorder. Due to its risk for tolerance, dependence, and withdrawal, treatment with short-acting benzodiazepine monotherapy is not first-line. However, initial treatment with a longer-acting benzodiazepine in the short-term may be indicated while antidepressant treatment is titrated. No evidence exists for efficacy of gabapentin or buspirone in the treatment of Panic Disorder.

C. SSRI-induced syndrome of inappropriate secretion of antidiuretic hormone (SIADH) is not uncommon in elderly patients receiving SSRI therapy. In these patients, water excretion is impaired. Carbamazepine, oxcarbazepine, and neuroleptics are other possible offenders. Treatment of SIADH consists of fluid restriction, lithium or demeclocycline, and intravenous Sodium Chloride (NaCl). SIADH is contrasted with nephrogenic diabetes insipidus (NDI), which can occur with chronic lithium therapy. NDI consists of impaired renal conservation of water, and has a clinical presentation of polydipsia with dilute (not concentrated) urine.

E. Although staff often would like patients to be sedated, this is a potentially harmful event. It may lead to aspiration, falls, and other complications. Benzodiazepines may disinhibit patients, interfere with cognition, and cause depression. Antipsychotics increase the risk for stroke, clotting, and cardiac complications. Reducing unnecessary medications, especially anticholinergic ones, is often beneficial to elderly patients. Cognitive enhancers and newer generation antidepressants (TCAs are often anticholinergic and are associated with cardiac arrhythmias) have some undesirable side effects, but are generally well tolerated, and often beneficial. Education of family and caregivers, as well as institution of appropriate behavioral interventions, should be used first-line and are among the least harmful of interventions when combined with judicious pharmacotherapy.

E. All of the statements are true. Patients with DS start developing AD earlier than the general population. The incidence of AD in patients with DS is 75% by the age of 60 years, as compared to an incidence of less than 5% in the general population. By the age of 40 years, 100% of these patients show AD pathology in their brains. Visual memory loss and impaired learning capacity are the first symptoms of cognitive dysfunction in these patients. MRI findings in these patients include cerebellar atrophy, basal ganglia calcification, and hippocampal atrophy.

A. The prevalence of NMS is estimated to be between 0.02% and 2.4% in patients exposed to dopamine receptor antagonists. It is an idiosyncratic rather than an allergic reaction. It is thought to be due to dopamine antagonism in the basal ganglia and the hypothalamus, leading to a resetting of the thermoregulatory systems and severe muscular spasm, which contributes to a considerable heat load that cannot be dissipated. The syndrome consists of generalized muscular rigidity, pyrexia, autonomic instability, lowered consciousness, akinesia, and mutism. It can occur at any stage of treatment with antipsychotic drugs. It can last for a few days up to 2 weeks. Renal failure can occur as a result of rhabdomyolysis triggering myoglobulinemia and myoglobinuria; this may be the main presentation without manifest rigidity. Respiratory failure may result from rigidity of the chest wall and requires ventilation. Other complications include infection such as pneumonia, hyperpyrexia, and cardiac failure. Mortality rates for NMS range from 10% to 20%.

B. The MacCAT-T contains the famous four criteria for capacity, or A, C, D, and E, as mentioned previously. Researchers have questioned whether or not these criteria genuinely provide a valid evaluation of capacity. Absence of delirium is not one of the four criteria; however, a delirious patient is unlikely to have the cognitive faculties necessary to fulfill the other four criteria.

B. Serotonin is synthesized from tryptophan by tryptophan hydroxylase (the rate-limiting step), followed by aromatic amino acid decarboxylase, and is degraded by Monoamine oxidase (MOA) into 5-hydroxyindoleacetic acid (5-HIAA). Phenylalanine is converted to tyrosine by PAH, and tyrosine hydroxylase is the rate-limiting enzyme in the synthesis of DOPA, which is converted to dopamine by DOPA decarboxylase, followed by conversion to NE by dopamine B-hydroxylase. Glutamate is decarboxylated by glutamic acid decarboxylase to GABA.

B. Although premature ovarian failure and polycystic ovarian syndrome can both lead to amenorrhea, galactorrhea is not present in either condition. Hypothyroidism is not an associated side effect of risperidone treatment. Prolactin secretion from the pituitary is under basal negative control by dopamine originating from the hypothalamus, and is stimulated by oxytocin release. Treatment with antipsychotics, particularly typical agents and risperidone, can lead to increased serum prolactin via inhibition of D2 receptors, removing the tonic inhibition of prolactin release, and leading to amenorrhea and galactorrhea. Discontinuation of the drug results in a return of the serum prolactin level to the normal range.

C. The gene for Huntington’s disease is located on the short arm of chromosome 4. This gene is associated with an expanded trinucleotide (CAG) repeats. Normal alleles at this site contain CAG repeats, but when these repeats reach 41 or more, the disease becomes fully penetrant. Incomplete penetrance occurs with 36 to 40 repeats and less than 35 repeats are not associated with the disorder. The number of CAG repeats accounts for as much as 60% of the variation in age of onset of the disease, with the remainder being caused by modifying genes and environment factors. Trinucleotide CAG, once it exceeds 28 repeats, start to show either expansion (73%) or contraction (23%). The expansion of the trinucleotide repeats account for the occurrence of anticipation, a phenomenon where the age of onset of Huntington’s disease becomes earlier in successive generations, and the likelihood of paternal inheritance in children with juvenile onset symptoms. Also, new-onset cases of Huntington’s disease with a negative family history usually occurs because of expansion of an allele in the borderline or normal range (28 to 35 CAG repeats), mostly from the paternal side. Identical twins with Huntington’s disease typically have the age of onset of symptoms within a few years of each other, but may present with different clinical phenotypes. In homozygous cases of this disorder, there is no substantial difference in age of onset of the disease, but the rate of progress may be rapid.

E. The postictal extremity weakness described is referred to as Todd’s paralysis, and is usually present on the contralateral side from the seizure focus. Seizure activity should not be suspected to be psychogenic in nature until a full workup is performed. The presence of bowel or bladder incontinence is not related to the origin of seizure activity.

B. Memory is the ability to record, retain, and retrieve knowledge. It is usually divided into declarative and non-declarative memory. Declarative memory is responsible for remembering everyday events and facts. It can be further subdivided into episodic memory, which refers to the ability to remember personal experiences that happened at a particular place and time, and semantic memory, which entails the remembrance of generic information. Non-declarative memory, which is also referred to as implicit memory, is not retrieved intentionally. It entails things such as remembering how to drive or run. Memory can also be divided in relation to time, such as immediate and long-term memory.

D. NPH presents with an insidious onset and gradual development of symptoms over weeks to months. Patients usually present with the triad of dementia, gait apraxia, and urinary incontinence. Headache and signs of increased ICP do not occur in these patients. NPH may occur secondary to head trauma, infection, or SAH. In patients with more advanced disease, frontal release signs along with hyperactive tendon reflexes and Babinski signs may be elicited.

D. The normal color of CSF is clear, and xanthochromia refers to CSF that is not clear in color. Typical colors observed are yellow (due to a high protein concentration), pink (from hemoglobin in the CSF due to prior bleeding), and red (seen with high levels of oxyhemoglobin).

D. Neurologic sarcoidosis can occur in 5% of patients with sarcoidosis, and may follow an earlier diagnosis of sarcoidosis or manifest as the presenting symptoms in patients with this autoimmune disorder. It can affect any cranial nerve and commonly causes hypothalamic inflammation, which can lead to abnormal temperature sense, sleep patterns, and urinary habits. While the elevated ACE level is not specific for neurosarcoidosis (it can also be seen in infection or carcinomatous meningitis), it is supportive of this diagnosis when the symptoms constellation is consistent.

B. Rett syndrome is the second most common cause of mental retardation in women and it presents during childhood. The gene for Rett syndrome is located in the chromosome X, and mutations in the paternal chromosome account for the majority of these cases. The phenotypic expression of this entity is very variable. Patients, most frequently girls, develop normally until they reach 6 months to a year of age. At that point, there is a gradual deceleration in head growth, with the development of autistic-like behaviors and pyramidal signs. There is usually prolonged survival and patients tend to stabilize and sometimes improve by the second decade of life. In Alpers syndrome, which is characterized by gray matter degeneration, there are neuronal intranuclear hyaline inclusions. Neuroaxonal dystrophies, such as Seitelberger disease, cause focal axonal swelling in myelinated and nonmyelinated central and peripheral nervous system axons. Leukodystrophies are characterized by white matter changes.

E. RBD is a parasomnia, commonly treated with clonazepam. RBD occurs frequently in synucleinopathies of which Parkinson’s disease and Lewy body dementia are common synucleinopathies. Multiple-system atrophies are less commonly occurring synucleinopathies (including Striatonigral degeneration, Shy-Drager syndrome, and olivopontocerebellar atrophy). Alzheimer’s dementia is not a synucleinopathy, because it is an amyloid and tauopathy. RBD is not frequently associated with Alzheimer’s dementia.

D. Ethosuximide is considered the drug of choice for control of absence seizures, diagnosed in this child. The EEG would show the characteristic 3 per second spike and wave pattern seen in childhood absence epilepsy. An absence seizure may be provoked by hyperventilation, such as having the child make a pinwheel move by blowing on it, although the practitioner must be prepared for the possibility of a prolonged seizure during any provocative maneuver and act accordingly. Lamotrigine and valproic acid are also recommended first-line agents, and more than one drug may be necessary for seizure control. Phenytoin at therapeutic doses can actually worsen absence seizure control.

E. By the age of 30 months, children usually acquire the following skills:

B. Rivastigmine inhibits both BChE and AChE. It is metabolized at its site of action rather than in the liver. Patients often do experience gastrointestinal side effects such as nausea, vomiting, and diarrhea. Rivastigmine is prescribed twice daily. As with all the anticholinesterase medications, rivastigmine does not stop the progression of dementia but may slow the rate of cognitive decline.

B. The initiative versus guilt term is Erikson’s third stage in his theory of human development, refers to ages 3 to 5 years, but is not fixed in time as development is continuous. This stage corresponds to Freud’s phallic-oedipal phase, where children’s growing sense of sexual curiosity is manifested by engaging in group sex play or touching their own genitalia. If parents do no make an issue of these childhood impulses, the impulses are eventually repressed and reappear during adolescence as part of puberty. If parents make too much of the impulses, children may become sexually inhibited. By playing with peers, children learn how to interact with others and develop a sense of initiative and ambition. By the end of this stage, a child’s conscience is established. If a child is made to feel excessively guilty, this may lead to a variety of conditions including generalized anxiety disorder, phobias, and if sexual fantasies are accepted as unrealizable, children may attempt to repress their wishes and deny them, and develop sexual inhibition, paralysis, or impotence.

E. Malpractice claims experienced by the Psychiatrist’s Purchasing Group, the liability insurer of members of the American Psychiatric Association, reveal the following approximate frequencies of alleged claims by percentage: incorrect treatment (33%), attempted or completed suicide (20%), incorrect diagnosis (11%), improper supervision (7%), improper commitment (5%), breach of confidentiality (4%), undue familiarity (3%), libel or slander (2%), and other (i.e., abandonment, ECT, or third party injury) (4%).

C. The Hamilton-Anxiety Scale is used to evaluate somatic and cognitive anxiety symptomatology. It consists of 14 items, and each is rated from 0 to 4. This scale was designed to be administered by trained clinicians. The standard threshold for clinically significant anxiety is considered to be 14.

A. This is a presentation of amphetamine intoxication. Substituted, or “designer,” amphetamines include methylenedioxymethamphetamine (MDMA) (also referred to as ecstasy, XTC, and Adam), MDEA (also referred to as Eve), MMDA, and DOM (also referred to as STP). These substances have neurochemical effects on both the serotonergic and dopaminergic systems and have behavioral effects that reflect a combination of amphetamine-like and hallucinogen-like activities. Because they are so closely structurally related to the classic amphetamine drugs, they are classified with the amphetamines. Intoxication following the recent use of these substances includes maladaptive behavioral or psychological changes in addition to at least two of the following: (i) tachycardia or bradycardia, (ii) papillary dilation, (iii) elevated or lower blood pressure, (iv) perspiration or chills, (v) nausea or vomiting, (vi) evidence of weight loss, (vii) psychomotor agitation or retardation, (viii) muscular weakness, respiratory depression, chest pain, or cardiac arrhythmias, and (ix) confusion, seizures, dyskinesias, dystonias, or coma.

A. This woman has Premenstrual Dysphoric Disorder (PMDD), which is considered by the DSM-IV-TR, to be a depressive disorder NOS. PMDD includes symptoms of depression (markedly depressed mood, anxiety, mood lability, anhedonia) that occur during the last week of the luteal phase and that remit within a few days of the onset of menses. Symptoms are entirely absent for at least 1 week after the completion of menses, and, when present, must be severe enough to interfere with work and school, for example. Other disorders classified as Depressive Disorder NOS include the following: Minor Depressive Disorder (2 weeks of depressive symptoms not meeting full criteria for MDD); recurrent Brief Depressive Disorder (depressive symptoms occurring from 2 days to 2 weeks at least once a month for 12 months); and Postpsychotic Depressive Disorder of Schizophrenia (a Major Depressive Episode occurring during the residual phase of Schizophrenia). Depressive Disorder NOS is also used to diagnose patients in whom the etiology of depression has not been fully elucidated (i.e., primary mood disorder versus mood disorder due to general medical condition or substance).

E. In order to diagnose Catatonic Schizophrenia based on the DSM-IV-TR, at least two of the following symptoms should be present:

C. FTLD is the third most common cause of cortical dementia (after AD and DLB). It encompasses two major pathologic substrates affecting the frontal or temporal cortex, sometimes asymmetrically. Three clinical syndromes are produced by FTLD (Frontotemporal Dementia, Progressive Nonfluent Aphasia and Semantic Dementia). Although for a long time Pick’s disease was used synonymously with FTLD, two histologic types have been described with the same underlying histopathologic features: prominent microvacuolar change devoid of specific histologic features and severe astrocytic gliosis with or without ballooned cells and inclusion bodies (Pick’s disease).

A. Antidepressants may be effective in the treatment of post-traumatic stress disorder (PTSD). Additionally, they also treat common comorbidities of PTSD. Atypical antipsychotics may be used as adjuncts when patients present with disorganized or explosive behavior. Benzodiazepines are not considered first-line therapy given the comorbidity of PTSD and substance abuse. The efficacy of anticonvulsants in PTSD has yet to be fully determined. Little evidence suggests efficacy of buspirone in treating PTSD.

E. Lithium is the most common cause of drug-induced NDI, with impaired renal conservation of water. Treatment approaches include lowering or discontinuing the lithium dose, adding amiloride/thiazide diuretics/carbamazepine, low salt diet, or Desmopressin acetate ((DDAVP). NDI is contrasted with SIADH, where patients present with impaired water excretion (not conservation) and concentrated (not dilute) urine output.

B. Phototherapy is the most widely studied treatment for SAD. The dosage often found to be effective is 5,000 lux per day, given as 2,500 lux for 2 hours or 10,000 lux for 30 minutes. A recent meta-analysis of 23 studies of light therapy found that the odds ratio for remission was 2.9 (95% confidence interval, 1.6 to 5.4). Similar to antidepressant therapy for depression, phototherapy carries some risk of precipitating mania. Phototherapy is most effective when administered earlier in the day. Early morning light therapy regulates the circadian pattern of melatonin secretion, whereas the use of light in the evening delays the normal melatonin phase shift. To ensure adequate response, patients should be treated with phototherapy units that are specifically designed to treat SAD.

B. TD is most commonly caused by the long-term use of typical antipsychotic medication. At least 20% of patients who are treated with first-generation antipsychotics long-term develop TD. TD rarely develops in patients who have had less than 3 to 6 months of antipsychotic drug exposure. The only firmly established risk factor for TD besides typical antipsychotic drug exposure is being older than age 50, although there is some evidence that women may be at greater risk than men (thus this patient’s age of 35 years old is not a current risk factor for TD development). There is inconsistent evidence that patients with mood disorders may be at greater risk for developing TD and that intermittent dosing may increase the risk of TD. There is some suggestion that chronic use of anticholinergic compounds may increase the risk of TD.

C. Hyperthyroidism is one of the risk factors for NMS. Other risk factors include high-potency typical antipsychotic drugs, rapid or recent dose increase, organic brain disease, alcoholism, agitation, intercurrent infections, psychosis especially with catatonic features, dehydration, and abrupt withdrawal of dopamine precursor levodopa in patients with Parkinson’s disease and mental retardation. Men are more commonly affected as are younger patients. Antipsychotic drugs with anticholinergic effects appear to be less likely to cause NMS. Mortality may be lower with atypicals but may be as high as 20% to 30% with depot dopamine receptor antagonists.

A. The most common etiology of hallucinations in the hospital setting is delirium tremens, which often occurs 3 to 4 days after hospitalization. Sensory isolation is a common cause of isolation in intensive care units (ICU’s) and hallucination in this setting should encourage an evaluation of sensory isolation. Occipital lobe tumors as well as SLE are associated with hallucinations.

E. 5-HT₃ is the only serotonin receptor that is not coupled to a G-protein receptor. The 5-HT₃ receptor is a ligand-gated Na⁺, K⁺ channel that leads to depolarization of the cell when serotonin binds to the 5-HT₃ receptor. The 5-HT₃ receptor is found in high concentrations in the brainstem and area postrema, and stimulates dopamine release when activated. Decreased release of dopamine in the area postrema is thought to be the anti-emetic mechanism of the 5-HT₃ antagonist, ondansetron. The remainder of the serotonin receptors are G-protein coupled receptors. The 5-HT_1A receptor is located with the highest concentrations in the hippocampus and the amygdala, though it is distributed throughout the brain. These receptors seem to be involved in reduction of anxiety when stimulated, and buspirone is an agonist at the 5-HT_1A receptor. The 5-HT_1B receptors are found mainly in the basal ganglia, striatum, frontal cortex, and raphe nuclei, and may play a role in circadian rhythms, and the response of migraines to sumatriptan. The 5-HT_2A receptor subtype is localized primarily in the cortex and basal ganglia, and interacts with the atypical antipsychotics, and may contribute to their therapeutic effects. Little is known about the 5-HT_2B receptor.

C. Nitric oxide is an important neurotransmitter which should not be confused with nitrous oxide (an anesthetic gas – “laughing gas”), which can become a drug of abuse. Nitric oxide inhibits platelet aggregation, dilates blood vessels, boosts host defenses against infections, and functions in a variety of CNS roles. From a neurological standpoint, its main functions are in regulating cerebral blood flow and facilitating penile erection.

E. None of the choices are true. Wilson’s disease is a rare autosomal recessive genetic disorder of copper metabolism. The disease affects between one in 30,000 and one in 100,000 individuals. It is characterized by hepatic and neurological disease. The symptoms of this disorder usually appear in the second and third decades of life. In these individuals, there is accumulation of excess copper in the liver because of reduced excretion in the bile. Wilson’s disease is a progressive disorder and if undiagnosed and treated can be fatal.

E. Galactorrhea, or abnormal lactation, may be associated with various clinical conditions. Patients with galactorrhea usually have elevated serum prolactin levels; however, women who have breast-fed may experience mild galactorrhea for many years with a normal prolactin level. Hyperprolactinemia is often caused by medications, including antipsychotic medications, metoclopramide, and cimetidine. Apart from medications, the most common cause of hyperprolactinemia is a prolactin-secreting adenoma or a lesion in the pituitary or hypothalamus that interferes with dopamine secretion. (Prolactin secretion is inhibited by dopamine.) Other conditions associated with hyperprolactinemia include chronic renal failure, cirrhosis, hypothyroidism, stress, and, less commonly, medications such as opiates, SSRIs and TCAs.

B. The previously mentioned CSF profile combined with the clinical presentation is most suggestive of a bacterial meningitis. Normal CSF is clear, with 0 to 4 WBC/mm, 30 to 45 mg protein/100 mL, and 60 to 100 mg glucose/100 mL. Bacterial meningitis is notable for very high WBC (100 to 500), above normal protein (75 to 200), and very low glucose (0 to 40). Viral meningitis, by contrast, shows more modest elevations in WBC (50 to 100) and protein (50 to 100), and little to no decrease in glucose (40 to 60). SAH is characterized by bloody fluid. LP would not be helpful in diagnosing an intracranial mass.

E. In infants, hydrocephalus can be distinguished from other forms of macrocephaly, such as subdural hematoma by skull transillumination or plain-skull radiograph. LP may be done to measure CSF pressure and to determine whether it contains blood, inflammatory material or infection. CSF-pulse-wave analysis may be more reliable than CSF pressure measurement alone in diagnosing hydrocephalus. Ultrasonography is useful in evaluating subependymal and intraventricular hemorrhages in infants. Cerebral angiography can be done to detect hydrocephalus due to intracranial mass lesions. However, CT scan or MRI of the brain remains the best diagnostic aids to detect all forms of hydrocephalus.

E. The syndrome described is most consistent with an idiopathic facial nerve palsy (Bell’s palsy). The symptoms typically follow a viral prodrome, resolve without treatment in ∼3 weeks (in 85% of patients) and can include facial nerve weakness, ear numbness or pain, chorda tympani and reduction in tearing or salivary flow. In 70% of cases, full function is eventually regained with no treatment. Patients with Bell’s palsy do not typically have abnormal CSF analyses.

D. The MMSE is a 30-point test whose purpose is to help clinicians screen for cognitive impairment. It includes tests of orientation, immediate and recent memory, language, attention, and visuospatial skills, among others. It was developed by Folstein and colleagues in 1975 and has since become the most widely used screening test for cognitive impairment. Screening tests such as the MMSE can be useful in detecting cognitive deficits and estimating their severity. Gender has no specific effect, though the MMSE may overestimate cognitive deficits in older people, members of ethnic minority groups, and those who are poorly educated (<8 years of school). However, there are corrections which can be applied for age/educational level. The MMSE does not distinguish between etiologies of dementia nor does it distinguish dementia from memory impairment due to depression (“pseudodementia”).

C. Seitelberger syndrome is a neuroaxonal dystrophy which is rare and it is characterized by focal axonal swelling in myelinated and nonmyelinated central and peripheral nervous system. Patients usually develop symptoms between the first and second year of age, and the clinical picture is characterized by both upper and lower motor neuron disease. Patients present with weakness, muscular atrophy, urinary retention and optic atrophy. The most common neuroimaging finding is prominent and diffuse hyperintensity of the cerebellar cortex, dentate nucleus, and pyramidal tracts. Rett syndrome is usually seen in girls who develop normally until the first 6 to 12 months of life, when they develop deceleration of head growth and autistic-like symptoms. Cockayne syndrome is a disorder of DNA repair. Patients have a progeroid facies, progressive intellectual deterioration, lack of subcutaneous fat and hypersensitivity to sunlight. Juvenile Huntington’s disease is characterized by mental deterioration, behavioral abnormalities, and gait disturbances.

B. The patient has NPH. NPH is characterized by a triad of clinical findings including slowly progressive gait disorder, impaired mental function, and urinary incontinence. It may follow an SAH from either a ruptured aneurysm or head trauma; resolved acute meningitis or chronic meningitis. In most cases, a cause cannot be established. Gait disturbance, usually the earliest feature, often takes the form of unsteadiness and impaired balance. Weakness and tiredness of the legs are frequent complaints. Patients may take short steps and have stooped posture resembling Parkinson’s disease. Unlike Parkinson’s disease, there is no rigidity, slowness of alternating movements, or tremor. Mental changes are “frontal” in character. They include apathy, dullness in thinking and actions, inattention, and impaired memory. Urinary symptoms appear late in the disease. Initially, they consist of urgency and frequency. Later, urgency is associated with incontinence. Hydrocephalus can be treated with surgical shunting. Often a complete or nearly complete restoration of mental function and gait can be obtained. Memory disturbance in Alzheimer’s dementia is usually insidious and the urinary incontinence with gait abnormality present at the onset of dementia can help to distinguish NPH from AD. Patients with vascular dementia often have a history of hypertension, a stepwise progression of deficits, abrupt onset of dementia, and focal neurological symptoms or signs. While this patient has several of these features, including abrupt onset of dementia and a history of hypertension, she does not have any focal neurological deficits or a history of stoke. Parkinson’s disease is characterized by resting tremor, cogwheel rigidity, bradykinesia, and abnormal gait and posture. The patient has an abnormal gait but does not exhibit any other signs of Parkinson’s disease. It should be noted that 10% to 15% of patients with Parkinson’s disease develop dementia; the incidence of dementia increases with advancing age, and up to 65% above age 80 have it. The patient’s fall may be complicated by a pelvic fracture. However, such a fracture would not explain her pre-existing impaired gait or memory disturbance.

B. Migraine without aura is more common than migraine with aura. It accounts for 80% of all migraines. An estimated 10% to 20% of the United States population has migraines, and there is a 3:1 female preponderance, although in childhood onset, men and women are equally affected. There is a family history in greater than 70% of migraine sufferers. Many patients can use only abortive therapies for treatment, such as ibuprofen or acetaminophen in less severe cases, and a serotonin receptor agonist (a triptan) for more severe migraines. Patients who are having disabling, frequent migraines may benefit from prophylactic therapy. Indications for prophylactic therapy are the presence of two or more headaches per month that cause at least 3 days of disability per month, use of abortive treatments more than twice a week, a contraindication to the use of abortive treatments, or unusual migraine conditions/variants, such as hemiplegic migraine or migrainous infarction. Medications that have been used for prophylaxis include beta blockers and valproate, but topiramate has recently shown efficacy in migraine prophylaxis and received United States Food and Drug Administration (FDA) approval. The doses of topiramate used for migraine prophylaxis are lower than those used for seizure control and thus more likely to be well tolerated by patients, and topiramate’s lower risk of causing weight gain may make it more attractive in some patients, particularly those who are obese.

E. By the age of 60 months, most children usually acquire the following skills:

A. Homocystinuria is an autosomal recessive condition. Neurofibromatosis type 1, tuberous sclerosis and Huntington’s disease are inherited in an autosomal dominant fashion. Turner’s syndrome is due to the complete or partial absence of one of the X chromosomes found in women.

B. Each stage of Erikson’s life cycle has its own psychopathological outcome if it is not mastered successfully. If shame and doubt dominate over autonomy, compulsive doubting may occur and can produce an overly anal personality with people who are parsimonious, punctual, and perfectionistic. Too little autonomy can also lead to the development of paranoid personalities who feel that others are trying to control them. Prolonged separation during infancy can lead to anaclitic depression and in later life, this lack of trust can manifest as dysthymia, depression, or sense of hopelessness. Basic mistrust is also a major contribution to the development of Schizoid Personality Disorder, or more severely, schizophrenia, and can also lead to substance related disorders. Excessive guilt may lead to a variety of anxiety, phobias, or sexual inhibitions. Identity confusion can result in many disorders of adolescence, including Conduct Disorder, Disruptive Behavior Disorder, and Gender Identity Disorder, for example, and prolonged dependence may occur when there is an inability to separate from the parent. In older people who are not satisfied with their lives or feel they have not been generative, anxiety or depressive disorders often develop with increased suicide rates over the age of 65.

D. In the 1966 Rouse v. Cameron case, the District of Columbia’s Court of Appeals ruled that the purpose of involuntary hospitalization is treatment, and that a patient who is not receiving treatment has a constitutional right to be discharged from the hospital. In the 1976 case of Tarasoff v. Regents of University of California, physicians have the duty to warn and protect intended victims if there is reason to believe a patient may injure or kill someone. In the 1971 case of Wyatt v. Stickney, Judge Johnson ruled that people on civil commitment to a mental institution have a constitutional right to receive such individual treatment as will give them a reasonable opportunity to be cured or to have their mental condition improved. The result of this case was minimum requirements for staffing, specified physical facilities and nutritional standards, and required individualized treatment plans. In the 1976 O’Conner v. Donaldson case, the United States Supreme Court ruled that harmless mental patients cannot be confined against their will without treatment if they can survive in the community. As a result of the 1979 case of Rennie v. Klein, patients have the right to refuse treatment and to use an appeal process.

B. The CAPS includes 17 items to make the diagnosis of PTSD according to DSM criteria. It is a helpful tool not only to make the diagnosis of PTSD, but also to assess the impact of the PTSD on social and occupational functioning and general severity of symptoms. The YBOCS measures the severity of obsessive-compulsive disorder symptoms. It includes ten items and it is administered in a semi-structured interview. The AUDIT was developed by the WHO as a brief screening tool for the detection of dangerous alcohol use. The threshold score for the diagnosis of alcoholism is considered to be between 8 and 10. The ASI provides a quantitative measure of symptoms and functional impairment due to alcohol or drug addictions. The CAGE Questionnaire is a brief screen for patients with significant alcohol problems that consists of four questions concerning the effect that drinking has on a person. Scores of 2 or more suggest significant alcohol problems.

A. There are seven types of Delusional Disorder described by the DSM-IV-TR: erotomanic (delusions that another person, usually of higher status, is in love with the individual), Grandiose (delusions of inflated worth, power, knowledge, identity, or special relationship to a deity or famous person), Jealous (delusions that the individual’s sexual partner is unfaithful), Persecutory (delusions that the person, or someone to whom the person is close, is being malevolently treated in some way), Somatic (delusions that the person has some physical defect or general medical condition), Mixed (delusions characteristic of more than one type, but no one theme predominates), and Unspecified Type. Paranoid Type is a subtype of Schizophrenia, but not Delusional Disorder.

D. Race or ethnicity has not been shown to be a significant risk factor for the development of MDD. Although some community studies have suggested a higher prevalence of depressive symptoms among African Americans, this racial disparity usually disappears when confounding factors such as age and socioeconomic status are controlled. With regards to other risk factors, women are at greater risk of developing MDD than men (in contrast to bipolar disorder, where gender is not a risk factor). People who are separated or divorced have a greater risk, as do people with a family history of depression. Those with lower socioeconomic status are at greater risk for the development of MDD as well. Other risk factors for the development of MDD include age (young at greater risk), childhood experiences (loss of parental figure and disruptive childhood environment), chronic stress, and residence (greater risk in urban areas than rural areas).

E. Fragile X Syndrome is the second most common single cause of Mental Retardation. There is a high rate of ADHD, learning disorders, and Pervasive Developmental Disorders, such as Autism in children with Fragile X syndrome. The clinical features are as described in the question. Trisomy 21 is seen in Down syndrome, deletion of 15q12 of paternal origin is seen in Prader-Willi syndrome, deletion of 17p11.2 is seen in Smith-Magenis syndrome, and deletion of 15q12 of maternal origin is seen in Angelman’s syndrome. They are all associated with mental retardation, but they have unique clinical features.

B. Patients with FTLD are occasionally misdiagnosed as Alzheimer’s disease. Careful history taking and attention to certain aspects of presentation are likely to clarify diagnosis. FTLD has a predominantly “pre-senile” onset, whereas AD is more common in the elderly. Severe amnesia and visuospatial deficits and myoclonus characteristic of AD are often not described in the early stages of FTLD. Patients with FTLD are typically oriented and do not evidence significant deficits in negotiating their local environment. Profound alteration in personality in the early stages of a dementing illness suggests FTLD rather than AD. Bradyphrenia is typical of subcortical vascular dementia.

D. Family therapy has been shown to be effective in teaching family members about Schizophrenia. In addition, family therapy can emphasize the reduction of expressed emotion and coping skill enhancement, which can improve the level of stress in the home. Family therapy has been shown to reduce post-hospitalization symptoms and recidivism.

A. The cerebellum is the site most commonly involved in Irreversible Lithium-Induced Neurotoxicity, although atypical effects have also been observed. Some less common presentations include extrapyramidal syndromes, brainstem dysfunction, and dementias of varying degrees. There is evidence that lithium can have both neuroprotective and toxic effects, possibly due to differential gene expression pathways.

C. Clozapine is an atypical antipsychotic drug with minimal extrapyramidal toxicity and 30% efficacy for treatment-resistant Schizophrenic patients (approval by the FDA). The risk of seizure due to clozapine is in the range of 1% to 5%. In a chart review of 1,418 patients treated with clozapine in the United States between 1972 and 1988, 2.8% of patients had generalized tonic-clonic seizures during treatment with clozapine (1). Life-table analysis predicted a cumulative 10% risk of seizures after 3.8 years of treatment. Clozapine-related seizures appear to be dose-related. High-dose therapy (greater than or equal to 600 mg/day) was associated with a greater risk of seizures (4.4%) than medium (300 to 600 mg/day; 2.7%) or low doses (less than 300 mg/day; 1.0%). Also, rapid upward titration may increase seizure risk.

Good clinical practice includes anti-seizure prophylaxis with valproic acid at doses of clozapine above 600 mg a day. Phenytoin or carbamazepine should be avoided because they cause agranulocytosis and other hematologic abnormalities both independently and especially in combination with clozapine. In addition, phenytoin lowers clozapine levels.

E. Antipsychotic medications are all generally able to cross the maternal-placental barrier and be present in the fetus and amniotic fluid. Although some studies have investigated some agents with regard to teratogenicity, no clear pattern has emerged, yet given the relative lack of safety data it is best if possible to avoid agents during pregnancy, especially the first trimester. In late pregnancy, there are well-documented problems with chlorpromazine being associated with an increased risk of neonatal jaundice, and reports of women on antipsychotics giving birth to infants with EPS. Because the washout time for these drugs in the fetus is at least 7 to 10 days, the recommended time period to discontinue antipsychotics before a women’s due date is 2 weeks (not 1 week). Antipsychotics have been shown to be secreted in breast milk; therefore, there is some risk for the development of EPS in breast-feeding infants of mothers treated with antipsychotics.

D. Because NMS is potentially fatal, it is imperative to seek the advice of the physicians. It may be possible to manage the patient on a psychiatric unit if the symptoms are relatively mild. However, more serious cases will require transfer to a medical unit or even the intensive care unit. Treatment is chiefly supportive with removal of the offending agent (i.e., discontinue the antipsychotic drug). Dopamine receptor agonists such as bromocriptine and amantadine are used to overcome the antipsychotic-induced dopamine receptor blockade. Avoid the use of anticholinergics as these may exacerbate the fever. Dantrolene is used as a muscle relaxant. Benzodiazepines may be used for sedation and muscle relaxation. Artificial ventilation may be required in the event of respiratory failure. ECT may be considered for psychosis.

A. Gender refers to one’s sex-role identity, and is determined both by exposure and responsiveness to sex steroids as well as by expectations and behavioral patterns learned in early childhood. Gender identity begins at age 3 to 4 years, when a child perceives him- or herself as either male or female. The timing of gender identity varies widely among individuals, influenced in large part by sociocultural influences. Gender identity generally occurs earlier in girls than in boys and is very difficult to change after the age of four. Gender roles refer to behavior related to gender identity. The concept of certain behaviors as “masculine” or “feminine” is relatively fixed by age 4 or 5.

B. Wallenberg’s syndrome (lateral medullary syndrome) is a vertebrobasilar stroke syndrome caused by occlusion of the vertebral artery that leads to loss of pain and temperature sensation on the contralateral side of the body below the level of the lesion, accompanied by ipsilateral Horner’s syndrome, motor and sensory loss in the face, and cerebellar ataxia. Anterior inferior cerebellar artery syndrome is associated with vertigo and nystagmus, ipsilateral deafness, ipsilateral Horner’s syndrome, and contralateral loss of pain and temperature sensation in the body. Parinaud’s syndrome is characterized by supranuclear paralysis of eye elevation and impaired gaze convergence. Anterior spinal artery syndrome is characterized by flaccid paralysis below the level of the lesion, with loss of pain and temperature sensation, though with preserved light touch, position sense, and vibration sense. Weber’s syndrome results from infarction of the posterior cerebral artery (PCA) affecting the cerebral peduncle, which results in ipsilateral pupillary dilation, ipsilateral oculomotor paresis, and contralateral paralysis of the face, arm, and leg.

A. In contrast to chromosomal DNA, mitochondrial DNA is derived entirely from the mother. Mitochondria produce about 90% of the body’s energy requirement, mostly in the form of ATP. In generating energy, mitochondria must constantly remove free radicals, which are highly toxic by-products of mitochondrial metabolism. The vital energy-producing enzymes of mitochondria are delicate and easily poisoned, as in cyanide poisoning.