GPs were today urged to expand testing for an incurable genetic disorder that can cause learning disabilities and is often mistaken for autism.
Fragile X syndrome is extremely rare, affecting approximately 1 in 4,000 men and 1 in 6,000 women, and is caused by a genetic mutation that interferes with brain development.
Not all people with the mutation will inherit the condition. Approximately 1 in 250 women and 1 in 600 men carry the abnormal gene.
However, carriers also have an increased risk of early menopause.
But the condition is often overlooked by doctors and experts have warned that “change needs to happen now”.
Fragile X syndrome is extremely rare, affecting approximately 1 in 4,000 men and 1 in 6,000 women, and is caused by a genetic mutation that interferes with brain development.
Pete Richardson, managing director of the Fragile
“Carriers of the Fragile X premutation are often unaware that they are affected.
“If a woman shows signs of premature menopause, whether she is a Fragile X carrier is not often the last thing doctors investigate.
‘This needs to change. Now.’
The association urges patients who suspect they may carry the gene to contact their GP who can perform a Fragile X (FMR1) DNA test.
Blood samples may be collected locally, but are then tested at a genetics center.
Currently, the government does not recommend screening for the disease during pregnancy, considering that some babies may have no symptoms even with a positive result.
Fragile X syndrome is caused by changes in genes on the X chromosome that inhibit the production of proteins needed for brain development.
The association says people with a family history of Fragile X syndrome or unexplained intellectual disability, developmental delay, or autism are more likely to be carriers.
It is also thought that women with ovarian insufficiency have up to a 15 percent chance of being a Fragile X carrier.
Alex McQuaid, a 41-year-old mother, was concerned that her son was not reaching the expected developmental milestones.
She said: “Even though my husband, Chris, and I told the doctor that we had a female cousin who we thought might have an autistic son, there was never any conversation about genetics.”
The couple, from Groby, Leicestershire, thought their son Evan’s problems, now 10, were a one-off.
But their second child, Xander, now 7, had similar problems.
Mrs McQuaid said: “I started researching it myself online. I knew it was similar to autism, but autism didn’t really apply to me.
“It didn’t take long for me to discover Fragile X syndrome. When I found the list of physical symptoms, I had no doubt that these boys had it.”
Fragile X syndrome presents with a variety of physical, mental, and behavioral symptoms ranging from mild to severe intellectual disability.
However, some women with the disease may appear to be less affected because “women have two X chromosomes, and typically only one of them is affected by Fragile X.” said Richardson.
“Some women appear unaffected, others have mild learning disabilities, and some women have more severe learning disabilities.”
On the other hand, having autism means that a person’s brain works differently than normal.
It is not a disease and people are affected from the moment they are born, but it may not be discovered until childhood, sometimes much later.
Autism exists on a spectrum. Some people are able to live fully functional lives without additional assistance. Some may require full-time assistance.
Typical signs of autism include difficulty communicating, feeling overwhelmed by certain situations, and repetitive behaviors.
In recent years, the incidence has skyrocketed, leading to concerns that the disease may be overdiagnosed.
In April, it was revealed that children across the UK are waiting up to four years for an autism diagnosis.
It is estimated that around 700,000 people in the UK and 5.4 million adults in the US have been diagnosed with autism.
According to research from Newcastle University in 2021, around 1 in 57 children (1.76 per cent) in the UK fall into this spectrum.
