GPs were today urged to widen testing for an incurable genetic condition, often mistaken for autism, that can cause learning disabilities.
Fragile X syndrome, so rare it affects around one in 4,000 men and one in 6,000 women, is caused by a genetic mutation that disrupts brain development.
Not everyone with the mutation will inherit the condition. Around one in 250 women and one in 600 men are carriers of the abnormal gene.
But carriers are also at higher risk of early menopause.
Yet the condition is often overlooked by medics, experts warned which ‘needs to change now’.
Fragile X syndrome, so rare it affects around one in 4,000 men and one in 6,000 women, is caused by a genetic mutation that disrupts brain development
Pete Richardson, managing director of the Fragile X Society, said: ‘As the most common inherited cause of learning disability, there is a surprising lack of awareness around Fragile X syndrome.
‘Carriers of the Fragile X pre-mutation often won’t know they are affected.
‘When a woman shows signs of premature menopause, being a Fragile X carrier is often the last thing that doctors will investigate.
‘We need this to change. Now.’
The Society is urging patients who suspect they may carry the gene to contact their GP who can carry out a Fragile X (FMR1) DNA test.
While blood samples may be taken locally, these are then tested at a genetics centre.
Currently, the Government does not recommend screening during pregnancy for the condition, given some babies with a positive result will never have symptoms.
Fragile X syndrome is caused by an alteration to a gene on the X chromosome, which disrupts the production of a protein needed for brain development.
According to the Society, people are more likely to be carriers if they have a family history of Fragile X syndrome – or of an intellectual disability, developmental delay or autism of unknown cause.
Women with ovarian insufficiency are also believed to have up to a 15 per cent chance of being a Fragile X carrier.
Alex McQuade, a 41-year-old mother, became concerned when her son didn’t hit his expected developmental stages.
She said: ‘At no point was there a conversation about genetics, despite myself and husband Chris telling doctors that I had a female cousin with what I thought was an autistic son.’
The couple, from Groby, Leicestershire, thought the issues experienced by their son, Evan, now 10, were a one-off.
However, their second child Xander, now seven, had similar problems.
Mrs McQuade said: ‘I began doing my own research online. I knew it was like autism, but autism didn’t quite fit.
‘It wasn’t long before I came across Fragile X syndrome. When I found the list of physical symptoms there was no doubt in my mind that the boys had it.’
Fragile X syndrome manifests in a variety of physical, mental and behavioural symptoms, ranging from mild to severe intellectual disability.
However, some females with the condition can appear less affected, ‘because females have two X chromosomes, and usually only one of them is affected by Fragile X’, Mr Richardson said.
‘Some females appear unaffected, others have a mild learning disability, and some have a more severe learning disability.’
Having autism, meanwhile, means a person’s brain works differently to normal.
It’s not a disease and people have it from the moment they are born, although it may not be spotted until childhood and sometimes much later.
Autism exists on a spectrum. Some people will be able to lead fully functioning lives with no additional help. Others may need full-time assistance.
Classic signs of autism include trouble communicating, finding certain situations overwhelming and repetitive behaviours.
Rates have spiralled in recent years, sparking suggestions that the disorder is now being overdiagnosed.
In April it was revealed that children across the UK are waiting up to four years for a diagnosis of autism.
It is estimated that around 700,000 Brits and 5.4 million adults in the US have an autism diagnosis.
According to a 2021 Newcastle University study, around one in 57 (1.76 per cent) children in the UK is on the spectrum.
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