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QUESTION 2
  1. Veronica B Kelly,
  2. A Salt
  1. Mary Sheridan Centre for Child Health, 5 Dugard Way off Renfrew Road, Kennington, London SE11 4TH, UK; vbkelly@gmail.com
  2. Great Ormond Street Hospital NHS Trust/UCL Institute of Child Health, London, UK

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SHOULD FRAGILE X BE TESTED FOR IN BOYS WITH A DIAGNOSIS OF AUTISTIC SPECTRUM DISORDER?

You diagnose a 5-year-old boy with autistic spectrum disorder. His examination is unremarkable and there is no family history of learning difficulties. Should you perform a molecular genetic screen for fragile X?

Clinical bottom line

  • Fragile X syndrome is significantly more common in children with autism (2%) than in the general male population (0.05%). (Grade C)

  • Approximately 50 children with autism would have to be tested to diagnose one child with fragile X syndrome. (Grade C)

  • Earlier identification of fragile X syndrome enables earlier genetic counselling and more accurate prognostic information to be offered. (Grade D)

STRUCTURED CLINICAL QUESTION

In boys with a diagnosis of autism [population] and no family history of learning disability [negative test result] what is the risk of fragile X syndrome [outcome]?

SEARCH STRATEGY AND OUTCOME

Searches were carried out using “Autism”, “Autistic spectrum disorder” combined with “FRAX” and “fragile X”.

Primary sources

PubMed: the search was limited to 1991–2008, as molecular genetic testing was routinely used to test for this condition from 1991 onwards. Thirty articles were retrieved and the abstracts were reviewed. Four relevant articles were included. …

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