26 Aug This Fragile Life
There is more to Fragile X than it being the most-common known cause of inherited intellectual disability. Less well known is the fact that even carriers of the genetic mutation are at greater risk of a range of lifelong health impacts.
Internationally renowned experts Randi and Paul Hagerman were in Perth this week to promote the diagnosis and early intervention for children with Fragile X syndrome (FXS) and also raise awareness of the broader implications for carriers.
Fragile X syndrome is caused by a genetic mutation of the FMR1 gene on the sex-determining X chromosome. When a section of this gene is bigger than normal, the gene fails to produce a protein important for brain development, leading to intellectual disability and behavioural difficulties.
Andrew Whitehouse, head of the developmental disorders research group at the Telethon Kids Institute and Kids are Kids! therapy and education centre patron, said 50 per cent of people diagnosed with Fragile X were also diagnosed with autism.
“Currently, very little research is being conducted locally and this is why it is so important to have researchers of the calibre of the Hagermans come here to inform the clinical, research and general community about Fragile X,” Mr Whitehouse said.
Professor Randi Hagerman said even many doctors were unaware of the extent of problems associated with carriers of the pre-mutation and it was dramatically under-diagnosed. She said most people who were carriers had normal intelligence but were at risk of disorders such as Fragile X Tremor Ataxia Syndrome (FXTAS), a neurological condition similar to Parkinson’s, and Primary Ovarian Insufficiency (FXPOI), which could lead to infertility and early menopause.
They were also at increased risk of a diverse range of other conditions including high blood pressure, hypothyroidism, migraine, headaches, sleep apnoea and fibromyalgia….
Full article: http://health.thewest.com.au/news/2208/this-fragile-life