NIMHANS Nursing Officer - 2021
Pathology & Genetics
Medium
Which is not a congenital mental retardation group?
Appeared in: NIMHANS Nursing Officer - 2021
Explanation
- Lewy Body Disease is a type of progressive dementia, a neurodegenerative disorder that primarily affects older adults.
- Unlike congenital conditions, it is not present at birth and involves the deterioration of previously acquired cognitive functions.
- The core features include fluctuating cognition, visual hallucinations, and parkinsonian motor symptoms, which are distinct from the developmental delays seen in congenital intellectual disabilities.
Why Other Options Were Wrong
- Option A: Down syndrome is the most common chromosomal cause of intellectual disability and is a congenital condition, resulting from an extra copy of chromosome 21.
- Option B: Fragile X syndrome is a genetic disorder and a common inherited cause of intellectual disability. It is a congenital condition caused by a mutation on the X chromosome.
- Option C: Williams syndrome is a congenital genetic condition caused by a microdeletion on chromosome 7. It is characterized by mild to moderate intellectual disability along with distinctive facial features and personality traits.
Related Visual
Clinical Relevance
- Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Differentiating between congenital intellectual disabilities and adult-onset neurodegenerative disorders as background academic context rather than a clinical decision trigger.
- A key nursing role is conducting developmental screenings during well-child visits to identify potential delays early. Suspicion of a congenital syndrome warrants referral for genetic testing and counseling.
- Nurses must differentiate between a patient's baseline intellectual disability and an acute change in mental status, which could indicate a new medical problem (like delirium) rather than their underlying condition.
- For patients with congenital syndromes, care plans should focus on maximizing adaptive functioning, providing education, and supporting the family. For patients with dementia, the focus is on safety, managing symptoms, and supporting caregivers through the progressive decline.
How to Approach the Question
- First, identify the keywords in the question stem. The key terms are 'NOT' and 'congenital mental retardation'.
- This 'negative' framing means you are looking for the option that does not fit the category of a congenital intellectual disability.
- Define 'congenital': present from birth. Define 'intellectual disability': significant limitations in intellectual and adaptive functioning originating before age 18.
- Evaluate each option against this definition.
- Down syndrome, Fragile X syndrome, and Williams syndrome are all well-known genetic disorders present from birth that cause intellectual disability.
- Lewy Body Disease is a form of dementia that develops in older adults. It is acquired and neurodegenerative, not congenital. Therefore, it is the correct answer.
Concept Tested & Keywords
- Concept Tested: Differentiating between congenital intellectual disabilities and adult-onset neurodegenerative disorders.
- Stem keywords: congenital, mental retardation, group
- Lead-in keywords: not
- Negative lead-in flag: The question asks for the option that is NOT a congenital mental retardation group.
Question ID
QgvlGoV71BEeZltOnKMfDb
Reference Book
E6 Kaplan Sadock's Synopsis of Psychiatry-2022 (pp 1-3768 of 3768) pp. 332-334, 275-277
E6 Robert Boland, Marcia L. Verduin - Kaplan and Sadock's Comprehensive Text of Psychiatry-Wolters Kluwer Health (2024) (pp 1-16525 of 16525) p. 11790-11792
Practise the full NIMHANS Nursing Officer - 2021
Attempt every question from this paper in a timed mock, then review the full solution for each one.
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