A 35-year-old male is brought to the physician by his wife who is concerned because he has begun to demonstrate odd behavior which has worsened over the past several months. She states that he has become very aggressive and at times will have sudden, jerky movements which he is unable to control. The patient states that his father had the same problem which he died of at age 69. The patient had a recent cold with fevers, chills and throat pain which resolved on its own some time ago. Which of the following is true of this disease?
Q52
A 5-year-old girl is brought to the physician because her mother has found her to be inattentive at home and has received multiple complaints from her teachers at school. She does not complete her assignments and does not listen to her teachers' instructions. She refuses to talk to her parents or peers. Her mother says, “She ignores everything I say to her!” She prefers playing alone, and her mother reports that she likes playing with 5 red toy cars, repeatedly arranging them in a straight line. She avoids eye contact with her mother and the physician throughout the visit. Physical and neurological examination shows no abnormalities. Which of the following is the most likely diagnosis?
Q53
A 34-year-old woman presents with recurrent panic attacks that have been worsening over the past 5 weeks. She also says she has been seeing things that are not present in reality and is significantly bothered by a short attention span which has badly affected her job in the past 6 months. No significant past medical history. No current medications. The patient is afebrile and vital signs are within normal limits. Her BMI is 34 kg/m2. Physical examination is unremarkable. The patient is prescribed antipsychotic medication. She expresses concerns about any effects of the new medication on her weight. Which of the following medications would be the best course of treatment in this patient?
Q54
A 3-year-old girl is brought in by her parents to her pediatrician for concerns about their child’s behavior. Since the parents started taking their child to daycare, they have become concerned that their daughter has not been behaving like other children her age. Most notably, she seldom responds when her name is called at home or at daycare. Additionally, she has been getting in trouble with the day care staff for not following directions but instead demanding to play with the train set at all times. She has been asked numerous times to share the toys, but the patient does not play with the other children. The parents state that the patient was born vaginally following a normal pregnancy, and the patient had been meeting developmental milestones all along. While she does not speak much, she is able to construct sentences up to 4-5 words. On exam, the patient’s temperature is 98.2°F (36.8°C), blood pressure is 106/60 mmHg, pulse is 76/min, and respirations are 14/min. The patient does not cooperate with gross or fine motor testing, but she appears to have no trouble running around the room and draws very detailed trains with crayons. While drawing and standing, she frequently makes flapping motions with her hands. The patient has ample vocabulary, but speaks in a singsong voice mostly to herself and does not engage during the exam. Which of the following is the most likely diagnosis?
Q55
A 9-year-old boy is brought to the emergency room by his mother for weakness, diaphoresis, and syncope. His mother says that he has never been diagnosed with any medical conditions but has been having “fainting spells” over the past month. Routine lab work reveals a glucose level of 25 mg/dL. The patient is promptly given glucagon and intravenous dextrose and admitted to the hospital for observation. The patient’s mother stays with him during his hospitalization. The patient is successfully watched overnight and his blood glucose levels normalize on his morning levels. The care team discusses a possible discharge during morning rounds. One hour later the nurse is called in for a repeat fainting episode. A c-peptide level is drawn and shown to be low. The patient appears ill, diaphoretic, and is barely arousable. Which of the following is the most likely diagnosis in this child?
Q56
A 17-year-old boy with behavioral changes is brought in by his concerned parents. The patient’s parents say that he has been acting very odd and having difficulty academically for the past 4 months. The patient says that he has been worried and distracted because he is certain the government is secretly recording him although he cannot provide a reason why. He mentions that he does feel depressed sometimes and no longer gets joy out of playing the guitar and his other previous activities. He has no significant past medical history. The patient denies any history of smoking, alcohol consumption, or recreational drug use. He is afebrile, and his vital signs are within normal limits. Physical examination is unremarkable. On mental status examination, the patient is slightly disheveled and unkempt. He has a disorganized monotonous speech pattern. He expresses tangential thinking and has a flat affect. During the exam, it is clear that he suffers from auditory hallucinations. Which of the following is the most likely diagnosis in this patient?
Q57
A 28-year-old man presents to his psychiatrist for continuing cognitive behavioral therapy for bipolar disorder. At this session, he reveals that he has had fantasies of killing his boss because he feels he is not treated fairly at work. He says that he has been stalking his boss and has made detailed plans for how to kill him in about a week. He then asks his psychiatrist not to reveal this information and says that he shared it only because he knew these therapy sessions would remain confidential. Which of the following actions should the psychiatrist take in this scenario?
Q58
A 3-year-old girl is brought to the pediatrician by her parents who are concerned that she is not developing normally. They say she does not talk and avoids eye contact. She prefers to sit and play with blocks by herself rather than engaging with other children. They also note that she will occasionally have violent outbursts in inappropriate situations. She is otherwise healthy. In the office, the patient sits quietly in the corner of the room stacking and unstacking blocks. Examination of the patient shows a well-developed female with no physical abnormalities. Which of the following is the most likely diagnosis in this patient?
Q59
An 81-year-old man is brought to the physician by his daughter after being found wandering on the street. His daughter says that over the past several months he has been more aggressive towards friends and family. She also reports several episodes in which he claimed to see two strangers in her apartment. He sometimes stares blankly for several minutes and does not react when addressed. He has hypertension, hyperlipidemia, and was diagnosed with Parkinson disease 10 months ago. His current medications include carbidopa-levodopa, hydrochlorothiazide, and atorvastatin. His temperature is 37°C (98.6°F), pulse is 99/min, and blood pressure is 150/85 mm Hg. He is confused and oriented to person and place but not to time. There is a resting tremor in his right upper extremities. There is muscle rigidity in the upper and lower extremities. He is able to walk without assistance but has a slow gait with short steps. Mental status examination shows short-term memory deficits. Which of the following is the most likely underlying cause of this patient's condition?
Q60
A 25-year-old woman is brought to a psychiatrist's office by her husband who states that he is worried about her recent behavior, as it has become more violent. The patient's husband states that his family drove across the country to visit them and that his wife 'threatened his parents with a knife' at dinner last night. Police had to be called to calm her down. He states that she has been acting 'really crazy' for the last 9 months, and the initial behavior that caused him alarm was her admission that his deceased sister was talking to her through a decorative piece of ceramic art in the living room. Initially, he thought she was joking, but soon realized her complaints of 'hearing ghosts' talking to her throughout the house were persisting and 'getting worse'. Over the past 9 months, she has experienced multiple periods of profound sadness, with persistent insomnia and an unintentional weight loss of 12 pounds over several months. She has been complaining of feeling 'worthless' and has had markedly diminished interest in activities for much of this time period. Her general hygiene has also suffered from her recent lack of motivation and she insists that the 'ghosts' are asking her to kill as many people as she can so they won't be alone in the house. Her husband is extremely concerned that she may harm herself or someone else. He states that she currently does not take any medications or illicit drugs as far as he knows. She does not smoke or drink alcohol. The patient herself does not make eye contact or want to speak to the psychiatrist, allowing her husband to speak on her behalf. Which of the following is the most likely diagnosis in this patient?
Psychotic Disorders US Medical PG Practice Questions and MCQs
Question 51: A 35-year-old male is brought to the physician by his wife who is concerned because he has begun to demonstrate odd behavior which has worsened over the past several months. She states that he has become very aggressive and at times will have sudden, jerky movements which he is unable to control. The patient states that his father had the same problem which he died of at age 69. The patient had a recent cold with fevers, chills and throat pain which resolved on its own some time ago. Which of the following is true of this disease?
A. A mutation in ATP7B on chromosome 13 is responsible
B. Erythema marginatum is a complication associated with this disease
C. Overactivity of dopamine in the mesolimbic pathway is the underlying pathology
D. It demonstrates anticipation (Correct Answer)
E. Underactivity of dopamine in the nigrostriatal pathway is the underlying pathology
Explanation: ***It demonstrates anticipation***
- This patient presents with symptoms characteristic of **Huntington's disease**, including **choreiform movements** and **behavioral changes** (aggression). The family history of the father having the same condition and dying at a younger age than expected for a neurodegenerative disease suggests **anticipation**.
- **Anticipation** in Huntington's disease refers to the phenomenon where successive generations experience an earlier onset of symptoms and increased severity due to the expansion of the **CAG trinucleotide repeat** in the Huntingtin gene.
*A mutation in ATP7B on chromosome 13 is responsible*
- A mutation in the **ATP7B gene on chromosome 13** is responsible for **Wilson's disease**, an autosomal recessive disorder of copper metabolism.
- Wilson's disease presents with neurological and psychiatric symptoms, but typically includes **Kayser-Fleischer rings** and liver disease, and does not commonly manifest with the pronounced chorea and anticipation seen in Huntington's.
*Underactivity of dopamine in the nigrostriatal cortex is the underlying pathology*
- **Underactivity of dopamine in the nigrostriatal cortex** is the primary pathology in **Parkinson's disease**, characterized by **bradykinesia**, rigidity, tremor, and postural instability.
- Huntington's disease, however, is associated with the **degeneration of GABAergic neurons** in the striatum, leading to an effective overactivity of dopamine relative to acetylcholine.
*Erythema marginatum is a complication associated with this disease*
- **Erythema marginatum** is a characteristic skin rash associated with **acute rheumatic fever**, an inflammatory condition that can occur after a Group A Streptococcus infection, and can lead to **Sydenham's chorea**.
- While Sydenham's chorea presents with jerky movements, it typically follows streptococcal infection and resolves, unlike the progressive neurodegeneration and anticipation seen in Huntington's disease.
*Overactivity of dopamine in the mesolimbic pathway is the underlying pathology*
- **Overactivity of dopamine in the mesolimbic pathway** is often implicated in **psychotic disorders** like schizophrenia, contributing to positive symptoms.
- While Huntington's disease involves a relative dopaminergic overactivity leading to chorea, the core pathology lies in the degeneration of specific striatal neurons rather than solely mesolimbic pathway dysfunction, and it's not the primary underlying mechanism for the entire spectrum of its symptoms.
Question 52: A 5-year-old girl is brought to the physician because her mother has found her to be inattentive at home and has received multiple complaints from her teachers at school. She does not complete her assignments and does not listen to her teachers' instructions. She refuses to talk to her parents or peers. Her mother says, “She ignores everything I say to her!” She prefers playing alone, and her mother reports that she likes playing with 5 red toy cars, repeatedly arranging them in a straight line. She avoids eye contact with her mother and the physician throughout the visit. Physical and neurological examination shows no abnormalities. Which of the following is the most likely diagnosis?
A. Rett syndrome
B. Conduct disorder
C. Oppositional defiant disorder
D. Attention deficit hyperactivity disorder
E. Autism spectrum disorder (Correct Answer)
Explanation: ***Autism spectrum disorder***
- The child exhibits core features of **autism spectrum disorder (ASD)**, including **social communication deficits** (refuses to talk, ignores parents, avoids eye contact) and **restricted, repetitive patterns of behavior** (playing with 5 red toy cars, repeatedly arranging them in a straight line).
- Her inattention and difficulty following instructions are also common in ASD, often related to focus on their specific interests rather than external demands, and **sensory processing differences** or **executive dysfunction**.
*Rett syndrome*
- This is a neurodevelopmental disorder almost exclusively affecting **females** and typically presents with a period of normal development followed by **regression of acquired skills**, especially **language and motor skills**.
- Key features include **stereotypic hand movements** (hand-wringing, squeezing), **gait abnormalities**, and **deceleration of head growth**, none of which are described in the patient.
*Conduct disorder*
- Characterized by a **persistent pattern of behavior** in which the basic rights of others or major age-appropriate societal norms or rules are violated, such as **aggression to people and animals**, **destruction of property**, deceitfulness or theft, and serious rule violations.
- The presented symptoms of social communication deficits and repetitive behaviors are not indicative of conduct disorder.
*Oppositional defiant disorder*
- Involves a pattern of **angry/irritable mood, argumentative/defiant behavior**, or **vindictiveness** lasting at least 6 months, often directed at authority figures.
- While the child may appear defiant by not listening, the broader constellation of **social communication deficits** and **repetitive behaviors** points away from ODD as the primary diagnosis.
*Attention deficit hyperactivity disorder*
- Presents with a persistent pattern of **inattention and/or hyperactivity-impulsivity** that interferes with functioning or development.
- Although the child is inattentive, the presence of **social communication difficulties** and **restricted, repetitive behaviors** are not characteristic of ADHD and are better explained by ASD.
Question 53: A 34-year-old woman presents with recurrent panic attacks that have been worsening over the past 5 weeks. She also says she has been seeing things that are not present in reality and is significantly bothered by a short attention span which has badly affected her job in the past 6 months. No significant past medical history. No current medications. The patient is afebrile and vital signs are within normal limits. Her BMI is 34 kg/m2. Physical examination is unremarkable. The patient is prescribed antipsychotic medication. She expresses concerns about any effects of the new medication on her weight. Which of the following medications would be the best course of treatment in this patient?
A. Ziprasidone (Correct Answer)
B. Clozapine
C. Chlorpromazine
D. Olanzapine
E. Clonazepam
Explanation: ***Ziprasidone***
- **Ziprasidone** causes minimal **weight gain** and has a lower risk of metabolic side effects compared to other antipsychotics, making it a good choice for a patient concerned about weight, especially with a BMI of 34 kg/m2.
- It treats psychotic symptoms like hallucinations and can help manage anxiety associated with panic attacks.
*Clozapine*
- **Clozapine** is known for causing significant **weight gain** and metabolic disturbances, which would be a concern for this patient.
- It is typically reserved for treatment-resistant schizophrenia due to its potential for serious side effects like **agranulocytosis**.
*Chlorpromazine*
- **Chlorpromazine** is a first-generation antipsychotic associated with a high risk of **extrapyramidal symptoms** (EPS) and sedation.
- It can also lead to moderate **weight gain** and is generally not preferred as a first-line treatment if metabolic concerns are present.
*Olanzapine*
- **Olanzapine** is associated with a high risk of **weight gain** and metabolic syndrome, which would exacerbate the patient's existing weight concerns.
- While effective for psychosis, its metabolic side effect profile makes it a less suitable choice in this scenario.
*Clonazepam*
- **Clonazepam** is a **benzodiazepine** primarily used for anxiety and panic attacks, but it is not an antipsychotic.
- It would not address the patient's psychotic symptoms (seeing things not present in reality), which require an antipsychotic medication.
Question 54: A 3-year-old girl is brought in by her parents to her pediatrician for concerns about their child’s behavior. Since the parents started taking their child to daycare, they have become concerned that their daughter has not been behaving like other children her age. Most notably, she seldom responds when her name is called at home or at daycare. Additionally, she has been getting in trouble with the day care staff for not following directions but instead demanding to play with the train set at all times. She has been asked numerous times to share the toys, but the patient does not play with the other children. The parents state that the patient was born vaginally following a normal pregnancy, and the patient had been meeting developmental milestones all along. While she does not speak much, she is able to construct sentences up to 4-5 words. On exam, the patient’s temperature is 98.2°F (36.8°C), blood pressure is 106/60 mmHg, pulse is 76/min, and respirations are 14/min. The patient does not cooperate with gross or fine motor testing, but she appears to have no trouble running around the room and draws very detailed trains with crayons. While drawing and standing, she frequently makes flapping motions with her hands. The patient has ample vocabulary, but speaks in a singsong voice mostly to herself and does not engage during the exam. Which of the following is the most likely diagnosis?
A. Rett syndrome
B. Normal development
C. Tourette syndrome
D. Attention-deficit hyperactivity disorder
E. Autism spectrum disorder (Correct Answer)
Explanation: ***Autism spectrum disorder***
- The patient exhibits core features of **autism spectrum disorder (ASD)**, including **deficits in social-emotional reciprocity** (seldom responds to name, does not play with other children, does not engage during exam) and **restricted, repetitive patterns of behavior, interests, or activities** (demands to play with train set, flapping motions with hands, detailed train drawings).
- Her **normal developmental milestones** initially, followed by the emergence of these behaviors by age 3, and her peculiar speech patterns (singsong voice, speaking mostly to herself) further support this diagnosis.
*Rett syndrome*
- This genetic disorder primarily affects girls and is characterized by **normal early development followed by regression** of communication and motor skills, as well as **stereotypic hand movements**.
- However, key differentiating features such as **loss of purposeful hand skills** and **severe intellectual disability** are not prominent in this case, and the patient has some communicative abilities.
*Normal development*
- While some variations in child behavior are normal, the described combination of **persistent social communication deficits** and **restricted, repetitive behaviors** significantly deviates from typical development for a 3-year-old.
- The child's lack of response to her name, inability to play with peers, and intense focus on a single activity are **red flags for developmental concerns**.
*Tourette syndrome*
- This disorder is characterized by **multiple motor tics and one or more vocal tics** that are sudden, rapid, recurrent, nonrhythmic motor movements or vocalizations.
- While the patient has flapping motions, these are more consistent with **stereotyped movements** seen in ASD rather than the characteristic tics of Tourette syndrome, and vocal tics are not mentioned.
*Attention-deficit hyperactivity disorder*
- This condition is characterized by **persistent patterns of inattention and/or hyperactivity-impulsivity** that interfere with functioning or development.
- While hyperactivity might be present (running around the room), the primary concern in this patient is the profound **social communication deficits** and **restricted, repetitive behaviors**, which are not central to ADHD.
Question 55: A 9-year-old boy is brought to the emergency room by his mother for weakness, diaphoresis, and syncope. His mother says that he has never been diagnosed with any medical conditions but has been having “fainting spells” over the past month. Routine lab work reveals a glucose level of 25 mg/dL. The patient is promptly given glucagon and intravenous dextrose and admitted to the hospital for observation. The patient’s mother stays with him during his hospitalization. The patient is successfully watched overnight and his blood glucose levels normalize on his morning levels. The care team discusses a possible discharge during morning rounds. One hour later the nurse is called in for a repeat fainting episode. A c-peptide level is drawn and shown to be low. The patient appears ill, diaphoretic, and is barely arousable. Which of the following is the most likely diagnosis in this child?
A. Conversion disorder
B. Somatic symptom disorder
C. Munchausen syndrome
D. Insulinoma
E. Munchausen syndrome by proxy (Correct Answer)
Explanation: ***Munchausen syndrome by proxy***
- The repeated **hypoglycemic episodes**, particularly after initial recovery and in the presence of the mother, suggest that the symptoms are **induced by a caregiver**.
- A **low C-peptide** level during hypoglycemia indicates exogenous insulin administration, a typical finding in factitious hypoglycemia induced by a caregiver.
*Conversion disorder*
- This involves neurological symptoms **without a clear medical explanation**, often triggered by psychological stress.
- However, the **severe hypoglycemia** and **low C-peptide** provide clear physiological evidence that rules out a purely psychological conversion.
*Somatic symptom disorder*
- Characterized by one or more **somatic symptoms that are distressing** or result in significant disruption of daily life, without a medical explanation.
- The **objective finding of severe hypoglycemia** and **low C-peptide** indicates a real physiological disturbance, not just perceived symptoms.
*Munchausen syndrome*
- This involves an individual **falsifying or inducing illness in themselves** for attention or sympathy.
- The patient is a 9-year-old boy, and the context points to **caregiver involvement** in inducing the illness, making **Munchausen by proxy** more likely.
*Insulinoma*
- An **insulinoma** is an insulin-producing tumor that would cause **high insulin** and **high C-peptide** levels during hypoglycemia.
- The presented case explicitly states a **low C-peptide** level, which rules out an insulinoma as the cause.
Question 56: A 17-year-old boy with behavioral changes is brought in by his concerned parents. The patient’s parents say that he has been acting very odd and having difficulty academically for the past 4 months. The patient says that he has been worried and distracted because he is certain the government is secretly recording him although he cannot provide a reason why. He mentions that he does feel depressed sometimes and no longer gets joy out of playing the guitar and his other previous activities. He has no significant past medical history. The patient denies any history of smoking, alcohol consumption, or recreational drug use. He is afebrile, and his vital signs are within normal limits. Physical examination is unremarkable. On mental status examination, the patient is slightly disheveled and unkempt. He has a disorganized monotonous speech pattern. He expresses tangential thinking and has a flat affect. During the exam, it is clear that he suffers from auditory hallucinations. Which of the following is the most likely diagnosis in this patient?
A. Schizophreniform disorder (Correct Answer)
B. Schizophrenia
C. Schizoaffective disorder
D. Schizotypal personality disorder
E. Brief psychotic disorder
Explanation: ***Schizophreniform disorder***
- This patient presents with **psychotic symptoms** including delusions (government recording him), auditory hallucinations, disorganized speech, flat affect, and behavioral changes, which have been present for **4 months**.
- The duration of symptoms (1 to 6 months) is the key criterion for diagnosing **schizophreniform disorder**, differentiating it from brief psychotic disorder (less than 1 month) and schizophrenia (greater than 6 months).
*Schizophrenia*
- While the patient exhibits many symptoms consistent with schizophrenia, the duration of his symptoms (4 months) is **less than the 6 months** required for a diagnosis of schizophrenia.
- Schizophrenia requires at least 6 months of continuous signs of disturbance, including at least 1 month of active-phase symptoms.
*Schizoaffective disorder*
- This disorder requires a significant mood episode (major depressive or manic) to be present concurrently with the psychotic symptoms for most of the illness duration.
- Although the patient mentions feeling depressed sometimes and having anhedonia, there is no indication of a full-blown **major depressive or manic episode** meeting diagnostic criteria, nor is it explicitly stated that mood symptoms are present for a majority of the illness.
*Schizotypal personality disorder*
- This is a personality disorder characterized by pervasive patterns of social and interpersonal deficits, accompanied by **cognitive or perceptual distortions** and eccentric behaviors.
- While some features like odd beliefs might overlap, the patient's presentation with clear-cut delusions and hallucinations indicates a **psychotic disorder**, not primarily a personality disorder.
*Brief psychotic disorder*
- Brief psychotic disorder is characterized by the sudden onset of psychotic symptoms that last for **less than 1 month**.
- This patient's symptoms have been ongoing for **4 months**, exceeding the duration criteria for brief psychotic disorder.
Question 57: A 28-year-old man presents to his psychiatrist for continuing cognitive behavioral therapy for bipolar disorder. At this session, he reveals that he has had fantasies of killing his boss because he feels he is not treated fairly at work. He says that he has been stalking his boss and has made detailed plans for how to kill him in about a week. He then asks his psychiatrist not to reveal this information and says that he shared it only because he knew these therapy sessions would remain confidential. Which of the following actions should the psychiatrist take in this scenario?
A. Respect patient confidentiality and do not write down this information
B. Ask for the patient's permission to share this information and share only if granted
C. Contact the police to warn them about this threat against the patient's wishes (Correct Answer)
D. Refer the patient to the ethics board of the hospital that meets in 1 week
E. Write the information in the note but do not contact the police
Explanation: ***Correct: Contact the police to warn them about this threat against the patient's wishes***
* This scenario directly invokes the **duty to warn** (or the **Tarasoff duty**), which legally obligates psychiatrists to breach confidentiality when a patient poses a serious and imminent threat of violence to an identifiable victim.
* The patient has expressed clear intent, a specific victim (the boss), and a detailed plan with an imminent timeline (about a week), making the threat credible and requiring immediate action to protect the potential victim.
* Contacting the police is an appropriate way to fulfill this duty. The psychiatrist may also directly warn the intended victim (the boss) or take both actions depending on the circumstances and jurisdiction.
*Incorrect: Respect patient confidentiality and do not write down this information*
* While patient confidentiality is paramount in psychiatry, it is not absolute when there is a **serious and imminent threat of harm** to an identifiable person.
* Failing to act on a credible threat of violence could result in harm to the intended victim and expose the psychiatrist to **legal liability** for failure to warn.
*Incorrect: Ask for the patient's permission to share this information and share only if granted*
* In situations involving a clear and imminent threat to a third party, gaining the patient's permission is not required and waiting for it could delay necessary protective actions.
* The duty to warn takes precedence over patient autonomy in these specific circumstances to prevent serious harm.
*Incorrect: Refer the patient to the ethics board of the hospital that meets in 1 week*
* Referring to an ethics board would involve a **significant delay**, which is unacceptable given the imminent nature of the threat (to occur in "about a week").
* This approach would not fulfill the psychiatrist's immediate legal and ethical obligation to protect the potential victim from harm.
*Incorrect: Write the information in the note but do not contact the police*
* While documenting the threat is important for the medical record, simply writing it down without taking action to warn the victim or authorities would fail to mitigate the imminent danger.
* This action alone would not fulfill the **duty to warn** and could result in preventable harm, making the psychiatrist potentially liable for failure to protect.
Question 58: A 3-year-old girl is brought to the pediatrician by her parents who are concerned that she is not developing normally. They say she does not talk and avoids eye contact. She prefers to sit and play with blocks by herself rather than engaging with other children. They also note that she will occasionally have violent outbursts in inappropriate situations. She is otherwise healthy. In the office, the patient sits quietly in the corner of the room stacking and unstacking blocks. Examination of the patient shows a well-developed female with no physical abnormalities. Which of the following is the most likely diagnosis in this patient?
A. Autism spectrum disorder (Correct Answer)
B. Fragile X syndrome
C. Cri-du-chat syndrome
D. Oppositional defiant disorder
E. Rett syndrome
Explanation: **Autism spectrum disorder**
- The patient's presentation with **impaired social interaction** (avoiding eye contact, playing alone), **communication deficits** (not talking), **repetitive behaviors** (stacking/unstacking blocks), and **restricted interests/activities** (violent outbursts in inappropriate situations) are classic diagnostic criteria for **autism spectrum disorder**.
- ASD has a **strong genetic component** (heritability 60-90%), though the absence of physical abnormalities helps distinguish it from syndromic forms like Fragile X syndrome.
*Fragile X syndrome*
- While **intellectual disability** and **autism-like features** can occur, Fragile X syndrome is typically associated with specific physical findings such as a **long face, large ears, and macroorchidism** in males, which are not mentioned here.
- It is a **genetic condition** and often presents with more significant cognitive impairment than described.
*Cri-du-chat syndrome*
- This syndrome is characterized by a **distinctive high-pitched cry** resembling a cat's meow, **microcephaly**, and **severe intellectual disability**, none of which are noted in the patient's presentation.
- Children with Cri-du-chat syndrome often have significant **developmental delays** and physical abnormalities that are not described.
*Oppositional defiant disorder*
- This disorder is characterized by a pattern of **angry/irritable mood, argumentative/defiant behavior, or vindictiveness** towards authority figures, but it does not fully explain the social and communication deficits, or the repetitive behaviors observed.
- While violent outbursts could be a symptom, the overall clinical picture of **social avoidance and communication delay** is more indicative of a pervasive developmental disorder.
*Rett syndrome*
- Rett syndrome is a **neurodevelopmental disorder** that primarily affects girls, characterized by a period of normal development followed by regression, loss of acquired hand skills, and **stereotypic hand movements**.
- The patient's presentation does not describe a period of regression or the characteristic hand stereotypies, which typically emerge between 6-18 months of age.
Question 59: An 81-year-old man is brought to the physician by his daughter after being found wandering on the street. His daughter says that over the past several months he has been more aggressive towards friends and family. She also reports several episodes in which he claimed to see two strangers in her apartment. He sometimes stares blankly for several minutes and does not react when addressed. He has hypertension, hyperlipidemia, and was diagnosed with Parkinson disease 10 months ago. His current medications include carbidopa-levodopa, hydrochlorothiazide, and atorvastatin. His temperature is 37°C (98.6°F), pulse is 99/min, and blood pressure is 150/85 mm Hg. He is confused and oriented to person and place but not to time. There is a resting tremor in his right upper extremities. There is muscle rigidity in the upper and lower extremities. He is able to walk without assistance but has a slow gait with short steps. Mental status examination shows short-term memory deficits. Which of the following is the most likely underlying cause of this patient's condition?
A. Impaired CSF absorption
B. Thiamine deficiency
C. Vascular infarcts
D. Lewy body deposition (Correct Answer)
E. Frontotemporal lobe atrophy
Explanation: ***Lewy body deposition***
- The patient's history of **Parkinson disease** along with the development of **visual hallucinations** (seeing strangers), waxing and waning cognition (staring blankly, not reacting), parkinsonism, and fluctuations in alertness strongly suggest **Lewy body dementia (LBD)**.
- LBD is characterized by the abnormal deposition of **alpha-synuclein proteins** (Lewy bodies) in neurons, affecting both cortical and subcortical areas.
*Impaired CSF absorption*
- This usually leads to **normal pressure hydrocephalus (NPH)**, characterized by a triad of **gait disturbance**, **urinary incontinence**, and **dementia**. While gait issues and cognitive decline are present, visual hallucinations and fluctuating cognition are not typical features.
- NPH lacks the prominent **parkinsonian features** and **visual hallucinations** seen in this patient.
*Thiamine deficiency*
- **Thiamine deficiency** (Wernicke-Korsakoff syndrome) typically presents with **ataxia**, **ophthalmoplegia**, and **confusion**, which can progress to **memory deficits** (Korsakoff psychosis).
- It is commonly associated with **alcoholism** or severe malnutrition, and the patient's symptoms, particularly the visual hallucinations and parkinsonism, do not fit this profile.
*Frontotemporal lobe atrophy*
- **Frontotemporal dementia** (FTD) is characterized by prominent changes in **personality, behavior**, or **language skills**, with relatively preserved memory in early stages. While behavioral changes are noted, the vivid visual hallucinations, fluctuating cognition, and predominant parkinsonism are not characteristic of FTD.
- FTD often involves specific **aphasic or behavioral variants** that differ from the diffuse cognitive and perceptual disturbances seen here.
*Vascular infarcts*
- **Vascular dementia** typically presents with a **step-wise decline** in cognitive function, often associated with a history of strokes or vascular risk factors (hypertension, hyperlipidemia). While this patient has vascular risks, the prominent visual hallucinations and fluctuating cognition are less characteristic.
- The **parkinsonian features** and **visual hallucinations** point more strongly towards Lewy body pathology than vascular changes.
Question 60: A 25-year-old woman is brought to a psychiatrist's office by her husband who states that he is worried about her recent behavior, as it has become more violent. The patient's husband states that his family drove across the country to visit them and that his wife 'threatened his parents with a knife' at dinner last night. Police had to be called to calm her down. He states that she has been acting 'really crazy' for the last 9 months, and the initial behavior that caused him alarm was her admission that his deceased sister was talking to her through a decorative piece of ceramic art in the living room. Initially, he thought she was joking, but soon realized her complaints of 'hearing ghosts' talking to her throughout the house were persisting and 'getting worse'. Over the past 9 months, she has experienced multiple periods of profound sadness, with persistent insomnia and an unintentional weight loss of 12 pounds over several months. She has been complaining of feeling 'worthless' and has had markedly diminished interest in activities for much of this time period. Her general hygiene has also suffered from her recent lack of motivation and she insists that the 'ghosts' are asking her to kill as many people as she can so they won't be alone in the house. Her husband is extremely concerned that she may harm herself or someone else. He states that she currently does not take any medications or illicit drugs as far as he knows. She does not smoke or drink alcohol. The patient herself does not make eye contact or want to speak to the psychiatrist, allowing her husband to speak on her behalf. Which of the following is the most likely diagnosis in this patient?
A. Schizophreniform disorder
B. Schizophrenia
C. Delusional disorder
D. Schizoaffective disorder (Correct Answer)
E. Brief psychotic disorder
Explanation: ***Schizoaffective disorder***
- This patient exhibits symptoms of both a **major depressive disorder** (multiple periods of profound **sadness**, persistent **insomnia**, **weight loss** over several months, feelings of **worthlessness**, and markedly **diminished interest in activities**) and a **psychotic disorder** (auditory **hallucinations**, command hallucinations, **delusions**, violent behavior).
- The total symptom duration is **9 months**, with **mood symptoms present for the majority of this period**, meeting the key DSM-5 criterion for schizoaffective disorder.
- The patient also demonstrates **psychotic symptoms (hallucinations) that persist throughout**, including periods when mood symptoms may fluctuate, satisfying the requirement for delusions or hallucinations for ≥2 weeks in the absence of a major mood episode.
- The combination of prominent mood episodes concurrent with schizophrenia-spectrum symptoms, with mood symptoms present for the majority of the illness duration, confirms schizoaffective disorder.
*Schizophreniform disorder*
- This disorder involves symptoms characteristic of **schizophrenia** lasting **between 1 and 6 months**.
- The patient's symptoms have been present for **9 months**, exceeding the maximum duration for schizophreniform disorder.
*Schizophrenia*
- Schizophrenia requires persistent psychotic symptoms lasting **at least 6 months**, with at least one month of active-phase symptoms.
- While this patient has psychotic symptoms for 9 months, the **prominent and prolonged depressive symptoms** that are present for the **majority of the illness duration** distinguish this from schizophrenia.
- In schizophrenia, mood symptoms, if present, are **brief relative to the total duration** of the psychotic illness, which is not the case here.
*Delusional disorder*
- Delusional disorder is characterized by **non-bizarre delusions** for at least 1 month, without other prominent psychotic symptoms.
- This patient experiences prominent **auditory hallucinations** ("hearing ghosts," "deceased sister talking to her") and **command hallucinations**, which are not features of delusional disorder.
- The presence of hallucinations rules out this diagnosis.
*Brief psychotic disorder*
- This diagnosis involves sudden onset of psychotic symptoms lasting **more than 1 day but less than 1 month**, with eventual full recovery.
- The patient's symptoms have persisted for **9 months**, far exceeding the duration criterion for brief psychotic disorder.