Child and adolescent psychiatry: Angelman 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 and adolescent psychiatry: Angelman syndrome

Sample item

A 3-year-old has severe intellectual disability, absent speech, a jerky ataxic gait, seizures, microcephaly and frequent bursts of unprovoked laughter with a happy demeanour. Which syndrome is this?

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

The answer and the reasoning

A. Angelman syndrome

Angelman syndrome results from loss of function of the maternally inherited UBE3A gene in the 15q11-q13 region. Children have severe developmental delay, absent speech, ataxia, seizures and a happy disposition with inappropriate laughter.

Option by option

  • A. Angelman syndrome (correct)

    Correct. Absent speech, ataxia and unprovoked laughter indicate Angelman syndrome.

  • B. Lesch-Nyhan syndrome

    Lesch-Nyhan syndrome has self-biting and hyperuricaemia.

  • C. Williams syndrome

    Williams syndrome has elfin facies, friendly personality and good verbal ability.

  • D. Rett syndrome

    Rett syndrome is seen in girls with regression after normal early development and hand-wringing.

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, Angelman syndrome. Angelman syndrome results from loss of function of the maternally inherited UBE3A gene in the 15q11-q13 region.

Why is "Lesch-Nyhan syndrome" not the answer?

Lesch-Nyhan syndrome has self-biting and hyperuricaemia.

Why is "Williams syndrome" not the answer?

Williams syndrome has elfin facies, friendly personality and good verbal ability.

Why is "Rett syndrome" not the answer?

Rett syndrome is seen in girls with regression after normal early development and hand-wringing.

What concept does this question test?

It tests Child and adolescent psychiatry: Angelman syndrome in Psychiatry. Children have severe developmental delay, absent speech, ataxia, seizures and a happy disposition with inappropriate laughter.

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 and adolescent psychiatry: Angelman 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.