NEET-PG 2018 — Psychiatry

Q: What is the current term used to refer to Down syndrome?

Trisomy 21. ***Trisomy 21*** - This is the **current scientific and cytogenetic term** for Down syndrome, indicating the presence of an **extra copy of chromosome 21**. - It is the most accurate and precise term describing the **genetic basis** of the condition and is universally used in medical literature. - While "Down syndrome" remains the clinical name, **Trisomy 21** is the preferred term in genetic and diagnostic contexts. *Oligophrenia* - This is an **outdated and pejorative term** for intellectual disability, no longer used in medical or scientific contexts. - It was a general term for conditions with **significantly impaired intellectual development** but has been abandoned. *Mental retardation* - This term was historically used to describe conditions of cognitive impairment but has been **replaced by "intellectual disability"** due to its stigmatizing connotations. - It is **no longer acceptable** in modern medical terminology. *Intellectual disability* - This is the **current preferred term** for describing cognitive impairment, but it refers to the **functional consequence** of Down syndrome, not the condition itself. - While accurate for describing the cognitive aspects, **Trisomy 21** is the specific genetic diagnostic term. *Mongolism* - This is an **obsolete and offensive term** that was historically used for Down syndrome based on perceived facial features. - It has been completely **abandoned** due to its racist and pejorative nature and should never be used. [Practice more Psychiatry PYQs on OnCourse]

Q: Which of the following is true about ataxia telangiectasia?

It is an autosomal recessive disease. ***It is an autosomal recessive disease*** - Ataxia telangiectasia is caused by mutations in the **ATM gene**, which is inherited in an **autosomal recessive** pattern. - This genetic defect leads to a deficiency in a protein crucial for DNA repair, causing systemic effects. *There is absence of amphicytes in different organs* - This statement is incorrect; **ataxia telangiectasia** is not characterized by an absence of amphicytes. - The term "amphicytes" is not typically associated with the defining pathological features of ataxia telangiectasia. *It is associated with normal immune function* - Ataxia telangiectasia is associated with **immunodeficiency**, particularly affecting T- and B-cell function. - Patients often experience recurrent infections due to impaired adaptive immunity, which is not a characteristic of normal immune function. *Serum levels of IgA are increased* - Patients with ataxia telangiectasia typically have **decreased serum levels of IgA**, and often IgG and IgE, leading to immunodeficiency. - Increased IgA levels are characteristic of other conditions and not ataxia telangiectasia. *Serum alpha-fetoprotein levels are decreased* - In ataxia telangiectasia, serum **alpha-fetoprotein (AFP) levels are characteristically elevated**, not decreased. - Elevated AFP is a useful diagnostic marker for this condition. [Practice more Psychiatry PYQs on OnCourse]

Q: Which of the following is a feature of Phenylketonuria?

Intellectual disability. ***Intellectual disability*** - Unmanaged **phenylketonuria (PKU)** leads to a toxic buildup of **phenylalanine** in the brain, causing severe and irreversible **intellectual disability**. - This neurotoxic effect is the primary and most devastating long-term consequence if not diagnosed and treated early. *Seizures* - While seizures can occur in **untreated PKU** due to neurotoxicity, they are a less consistent feature compared to intellectual disability. - Seizures typically occur in the context of severe, untreated disease and are considered a complication rather than a defining diagnostic feature. - Intellectual disability is the more universal and characteristic neuropsychiatric manifestation of PKU. *Loss of deep tendon reflexes* - This is not a typical feature of PKU; patients usually present with **increased muscle tone** and **hyperreflexia** due to neurological damage. - Loss of deep tendon reflexes is more characteristic of certain peripheral neuropathies or disorders affecting lower motor neurons. *Macrocephaly* - **Microcephaly**, rather than macrocephaly, can occasionally be observed in severe, untreated PKU due to impaired brain growth. - Macrocephaly is generally associated with conditions like hydrocephalus or certain genetic syndromes, not PKU. *All of the options* - This option is incorrect because the loss of deep tendon reflexes and macrocephaly are not characteristic features of PKU. - While seizures can occur, intellectual disability is the most defining and consistent feature among the options provided. [Practice more Psychiatry PYQs on OnCourse]

3 Previous Year Questions with Answers & Explanations

Questions

What is the current term used to refer to Down syndrome?

Which of the following is true about ataxia telangiectasia?

Which of the following is a feature of Phenylketonuria?

NEET-PG 2018 - Psychiatry NEET-PG Practice Questions and MCQs

Question 1: What is the current term used to refer to Down syndrome?

A. Oligophrenia
B. Trisomy 21 (Correct Answer)
C. Mental retardation
D. Intellectual disability
E. Mongolism

Explanation: ***Trisomy 21*** - This is the **current scientific and cytogenetic term** for Down syndrome, indicating the presence of an **extra copy of chromosome 21**. - It is the most accurate and precise term describing the **genetic basis** of the condition and is universally used in medical literature. - While "Down syndrome" remains the clinical name, **Trisomy 21** is the preferred term in genetic and diagnostic contexts. *Oligophrenia* - This is an **outdated and pejorative term** for intellectual disability, no longer used in medical or scientific contexts. - It was a general term for conditions with **significantly impaired intellectual development** but has been abandoned. *Mental retardation* - This term was historically used to describe conditions of cognitive impairment but has been **replaced by "intellectual disability"** due to its stigmatizing connotations. - It is **no longer acceptable** in modern medical terminology. *Intellectual disability* - This is the **current preferred term** for describing cognitive impairment, but it refers to the **functional consequence** of Down syndrome, not the condition itself. - While accurate for describing the cognitive aspects, **Trisomy 21** is the specific genetic diagnostic term. *Mongolism* - This is an **obsolete and offensive term** that was historically used for Down syndrome based on perceived facial features. - It has been completely **abandoned** due to its racist and pejorative nature and should never be used.

Question 2: Which of the following is true about ataxia telangiectasia?

A. There is absence of amphicytes in different organs
B. It is an autosomal recessive disease (Correct Answer)
C. It is associated with normal immune function
D. Serum levels of IgA are increased
E. Serum alpha-fetoprotein levels are decreased

Explanation: ***It is an autosomal recessive disease*** - Ataxia telangiectasia is caused by mutations in the **ATM gene**, which is inherited in an **autosomal recessive** pattern. - This genetic defect leads to a deficiency in a protein crucial for DNA repair, causing systemic effects. *There is absence of amphicytes in different organs* - This statement is incorrect; **ataxia telangiectasia** is not characterized by an absence of amphicytes. - The term "amphicytes" is not typically associated with the defining pathological features of ataxia telangiectasia. *It is associated with normal immune function* - Ataxia telangiectasia is associated with **immunodeficiency**, particularly affecting T- and B-cell function. - Patients often experience recurrent infections due to impaired adaptive immunity, which is not a characteristic of normal immune function. *Serum levels of IgA are increased* - Patients with ataxia telangiectasia typically have **decreased serum levels of IgA**, and often IgG and IgE, leading to immunodeficiency. - Increased IgA levels are characteristic of other conditions and not ataxia telangiectasia. *Serum alpha-fetoprotein levels are decreased* - In ataxia telangiectasia, serum **alpha-fetoprotein (AFP) levels are characteristically elevated**, not decreased. - Elevated AFP is a useful diagnostic marker for this condition.

Question 3: Which of the following is a feature of Phenylketonuria?

A. Loss of deep tendon reflexes
B. All of the options
C. Macrocephaly
D. Intellectual disability (Correct Answer)
E. Seizures

Explanation: ***Intellectual disability*** - Unmanaged **phenylketonuria (PKU)** leads to a toxic buildup of **phenylalanine** in the brain, causing severe and irreversible **intellectual disability**. - This neurotoxic effect is the primary and most devastating long-term consequence if not diagnosed and treated early. *Seizures* - While seizures can occur in **untreated PKU** due to neurotoxicity, they are a less consistent feature compared to intellectual disability. - Seizures typically occur in the context of severe, untreated disease and are considered a complication rather than a defining diagnostic feature. - Intellectual disability is the more universal and characteristic neuropsychiatric manifestation of PKU. *Loss of deep tendon reflexes* - This is not a typical feature of PKU; patients usually present with **increased muscle tone** and **hyperreflexia** due to neurological damage. - Loss of deep tendon reflexes is more characteristic of certain peripheral neuropathies or disorders affecting lower motor neurons. *Macrocephaly* - **Microcephaly**, rather than macrocephaly, can occasionally be observed in severe, untreated PKU due to impaired brain growth. - Macrocephaly is generally associated with conditions like hydrocephalus or certain genetic syndromes, not PKU. *All of the options* - This option is incorrect because the loss of deep tendon reflexes and macrocephaly are not characteristic features of PKU. - While seizures can occur, intellectual disability is the most defining and consistent feature among the options provided.