People with both fragile x syndrome and autism had unique profile of vulnerability

fragile x

Fragile X syndrome is a common cause of inherited learning disability and can affect one in 2000 males and one in 4000 females and is due to a mutation at an inherited fragile site on the X chromosome.

The researchers in this study were interested in looking at the behavioural profile of people with fragile X syndrome during adolescence and adulthood.

They worked with 30 Individuals with fragile X syndrome and autism and compared this group with 106 people with fragile X syndrome but not autism and 135 people diagnosed with autism but not fragile X syndrome. They made comparisons on measures of autism symptoms, adaptive functioning, behaviour problems, and psychological symptoms.

They found that those people with a diagnosis of fragile X syndrome and autism had greater communication and social reciprocity impairments than those with fragile X syndrome only. They also found that those in this group also showed higher levels of repetitive and challenging behaviours than either of the comparison groups.

They conclude that this suggests “a unique profile of vulnerability for those diagnosed with both fragile X syndrome and autism.”

Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood, Smith, L et al in American Journal on Intellectual and Developmental Disabilities: January 2012, Vol. 117, No. 1, pp. 1-17

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John Northfield

After qualifying as a social worker, John worked in community learning disability teams before getting involved in a number of long-stay hospital closure programmes, working to develop individual plans for people moving into their own homes. He worked for BILD, helping to develop the Quality Network and was editorial lead for the NHS electronic library learning disabilities specialist collection. This led him to found the Learning Disabilities Elf site with Andre Tomlin as a way of making the evidence accessible to practitioners in health and social care. Most recently he has worked as part of Mencap's national quality team and also been involved in a number of national website developments, including the General Medical Council's learning disabilities site.

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