Neurology: Rett syndrome: practice question

A Pediatrics 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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Pediatrics · Neurology: Rett syndrome

Sample item

A girl develops normally until 12 months, then loses purposeful hand use with hand-wringing movements, deceleration of head growth and seizures. Which gene is involved?

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 of MECP2 that is usually lethal in males. After a period of normal development, regression, stereotypical hand movements and acquired microcephaly follow. Diagnosis rests on clinical criteria with genetic confirmation.

Option by option

  • A. MECP2 (correct)

    Correct. MECP2 mutation causes Rett syndrome.

  • B. FMR1

    FMR1 relates to fragile X.

  • C. SMN1

    SMN1 relates to spinal muscular atrophy.

  • D. UBE3A

    UBE3A relates to Angelman 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 Pediatrics question

What is the answer to this Pediatrics question?

The best answer is A, MECP2. Rett syndrome is an X-linked dominant disorder of MECP2 that is usually lethal in males.

Why is "FMR1" not the answer?

FMR1 relates to fragile X.

Why is "SMN1" not the answer?

SMN1 relates to spinal muscular atrophy.

Why is "UBE3A" not the answer?

UBE3A relates to Angelman syndrome.

What concept does this question test?

It tests Neurology: Rett syndrome in Pediatrics. After a period of normal development, regression, stereotypical hand movements and acquired microcephaly follow. Diagnosis rests on clinical criteria with genetic confirmation.

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 Neurology: Rett syndrome?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics 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.