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Q: FRAX testing for Autistic Boys?

19 Feb, 08 | by Bob Phillips

FMR1 geneYou diagnose a 5-year-old 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 FMR1 mutations (fragile X)?

You can always wonder about testing for things, I think. As I mentioned elsewhere, you also need to think if the test is accurate and useful.

What Dr Kelly & pals at the Mary Sheridan Centre for Child Health in London have wondered is should they be undertaking FRAX testing. It’s certainly possible, but costs money – and what benefits can it produce?

What does the winder world think – do you test? Don’t you test? Why (both ways!)?

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  • shani

    Yes, testing should be administered because line of treatment may be different for each different diagnosis. therefore to benefit the patient, correct diagnosis is invaluable to help increase individuals potential and life chances by administering right therapy.

    Also genetic analysis can help identify mutant family genes and assess how they are either hidden or expressed between different family members. ie; girls show less tendency to expression of mutation in fragile x than boys do, therefore if they are carriers genetic identification can help with pre pregnancy counselling.

  • bphillips

    I can go with the genetic counselling angle, but really – what differences are there in the therapy of Fragile X ASD and non-Frangile X ASD? (No really, that’s a question. I don’t know the answer.)

    And also – would it be important to test if the frequency of FRAX was 1%? 0.1%? 0.01%?

    – Bob

  • Veronica

    There ought to be no difference between the therapy delivered to children with autism with or without Fragile X

    However it is important to identify it apart from the genetic counselling aspect.

    1. Up to 80% of children with Fragile X have mild to severe learning difficulties. However parents and educators should be aware that many children with Fragile X achieve above the level that would have been predicted from measured IQ.

    2. It is important to identify co-morbid conditions to aid genetic advances. The FRAX mutation is know and as many as 33% of children with Fragile X will have autism. So there is a defined cohort of patients and potential to identify a candidate gene.

    3. Some children with a diagnosis of ASD may not receive a statement of special educational needs. This may put them at risk of having unmet needs. If the have a comorbid conditions such as Fragile X it may lead to them receiving a Statement – Although this in itself is no guarantee to eliminate unmet needs.

    In regards to frequency of Fragile X in children -the reported incidence of Fragile X in this specific population is likely to be an underestimate because of the limited reliability of the cytogenetic tests used in the past compared with the more sensitive molecular tests currently used.
    Veronica

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