Review suggests new insights into understanding of fragile X syndrome offered by research

fragile x

The author of this literature review set out to explore the literature on the associations between human genome variations and psychological functioning in people with learning disabilities with a specific focus on recent developments reported in studies of people with fragile X syndrome.

He suggests that there is now substantial evidence that individuals of all ages and intellectual abilities have  psychological profiles determined by the fragile X gene full mutation and also premutations and intermediate alleles (one member of a pair of genes located at a specific position on a specific chromosome)

He points out that the importance of these genetic contributors to mental life appears to increase with age. The literature suggests that premutation carriers (an individual without the full mutation for fragile X) are prone to neurodegenerative mid-life fragile X tremor-ataxia syndrome, which involved problems with movement, memory, and the autonomic nervous system.

Current research into pharmacological treatment appears to be offering the possibility of syndrome-specific medical treatments.

The author concludes that genetic, neurological, biochemical, psychological and pharmacological research are providing new insights into the understanding of developmental and psychological disabilities affecting individuals with fragile X. Trials of syndrome-specific medication are underway.

Fragile X syndrome: lifespan developmental implications for those without as well as with intellectual disability, Turk J, Current Opinion in Psychiatry, 24, 5, 387–397

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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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