Child psychiatry: Rett syndrome: practice question

A Psychiatry question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Psychiatry · Child psychiatry: Rett syndrome

Sample item

A girl develops normally until 12 months, then loses acquired hand skills, develops hand-wringing movements, deceleration of head growth and loss of speech. The gene involved is:

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

A. MECP2

Rett syndrome is an X-linked dominant disorder due to MECP2 mutations that occurs almost exclusively in girls, with regression after a period of normal early development. Stereotyped hand-wringing, ataxia and seizures follow.

Option by option

  • A. MECP2 (correct)

    Correct. Rett syndrome is due to MECP2 mutations.

  • B. Dystrophin

    Dystrophin is involved in Duchenne muscular dystrophy.

  • C. SMN1

    SMN1 is involved in spinal muscular atrophy.

  • D. FMR1

    FMR1 is involved in fragile X syndrome.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Psychiatry question

What is the answer to this Psychiatry question?

The best answer is A, MECP2. Rett syndrome is an X-linked dominant disorder due to MECP2 mutations that occurs almost exclusively in girls, with regression after a period of normal early development.

Why is "Dystrophin" not the answer?

Dystrophin is involved in Duchenne muscular dystrophy.

Why is "SMN1" not the answer?

SMN1 is involved in spinal muscular atrophy.

Why is "FMR1" not the answer?

FMR1 is involved in fragile X syndrome.

What concept does this question test?

It tests Child psychiatry: Rett syndrome in Psychiatry. Stereotyped hand-wringing, ataxia and seizures follow.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Child psychiatry: Rett syndrome?

Learn each diagnosis by its core features and its first-line treatment. Then use the flashcards and the other Psychiatry questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.