Williams Syndrome — MRCPsych Paper B MCQ

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HardIntellectual DisabilityWilliams SyndromeMRCPsych Paper B

A 29-year-old man with mild intellectual disability is assessed because of recurrent anxiety. Since childhood, he has readily approached unfamiliar people and behaved in an overfamiliar manner. Neuropsychological assessment shows marked impairment in visuospatial construction, with relative strengths in verbal expression and auditory rote memory. Which genetic syndrome is most strongly associated with this cognitive-behavioural phenotype?

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Correct answer: A — Williams syndrome

Williams syndrome is the correct answer. The discriminating cluster is hypersociability and overfriendliness towards strangers alongside anxiety and an uneven cognitive profile, with relative verbal and auditory-memory strengths but marked visuospatial-construction impairment. Prader-Willi syndrome is more associated with hyperphagia, rigidity, temper outbursts and skin-picking. Fragile X syndrome commonly produces social anxiety, gaze avoidance and autistic features rather than uninhibited social approach. Angelman syndrome causes severe speech impairment, ataxia and an excitable or apparently happy demeanour. People with Down syndrome may be sociable, but the distinctive combination of approach to strangers, anxiety and pronounced verbal-visuospatial discrepancy is characteristic of Williams syndrome.

Reference: Fisher MH, Lense MD, Dykens EM. Longitudinal trajectories of intellectual and adaptive functioning in adolescents and adults with Williams syndrome. Journal of Intellectual Disability Research. 2016;60(10):920–932. https://pubmed.ncbi.nlm.nih.gov/27273269/