Cornerstone has called on the NHS to consider routine testing for the little known genetic condition Fragile X Syndrome for those diagnosed with Autism.
Edel Harris, chief executive of Cornerstone, said that the importance of testing should not be underestimated to ensure that families have the correct diagnosis to assist them in making important decisions. In support of European Fragile X Awareness Day, which takes place tomorrow (Thursday, October 10), Edel plans to do all she can to raise awareness of the condition across Scotland.
Edel, who is a carrier of the condition and has a son, Ross, who is affected by Fragile X Syndrome., said that early diagnosis helps individuals and families to access the services they need.
“Cornerstone is calling for everyone diagnosed with Autism to be tested for Fragile X Syndrome. At a recent family conference, Professor Jeremy Turk, a specialist advisor to the Fragile X Society, stressed the importance of proper diagnosis,” she said.
“He believes that all people with Autism should have a test for Fragile X Syndrome and this is a sentiment I echo. While there is no cure for Fragile X Syndrome, there are ways to help with the learning, physical, social and emotional, speech and language, and sensory problems common in Fragile X Syndrome.
“Carriers of the condition may themselves be at risk from premature ovarian failure or of being diagnosed with Fragile X Tremor Ataxia in later life. We see many families who go undiagnosed even after someone in their family is diagnosed as having Autism."
Each week, three babies in the UK are born who are fully affected by Fragile X, while 40 children born each week in the UK are carriers of the Fragile X gene.
Although almost as widespread as Cystic Fibrosis and muscular dystrophy, Fragile X is greatly under recognised and under diagnosed in Europe, where it is estimated that around 150,000 people are affected by the condition, many of whom have not been diagnosed.
In addition, female carriers may experience infertility and early onset menopause, while some older male carriers may develop a neurological condition (Fragile X Tremor Ataxia) affecting balance, tremor and memory, similar to Parkinson’s disease.
Cornerstone, which provides services to over 2,000 children and adults in Scotland including many people with Autism and Fragile X Syndrome works in partnership with the UK Fragile X Society to support families affected by this little known condition. They are the only social care provider in Scotland to host a Family Support Worker funded by the Scottish Government's Autism Fund.
Tim Potter, Managing Director of the Fragile X Society said: “It is vital that more people with Fragile X Syndrome are correctly diagnosed and can then receive the best support and care. Their quality of life depends on this.”