GPs urged to test for most common cause of learning disability

There is a "surprising lack of awareness" around Fragile X, experts said

A health charity is calling for GPs to routinely check patients for Fragile X syndrome, as knowledge about the condition remains alarmingly low among the public. It's been flagged that there's a "surprising lack of awareness" surrounding Fragile X, which experts are keen to rectify.

This genetic disorder disrupts the brain development process due to changes in a gene on the X chromosome essential for brain protein production. The Fragile X Society reports that around one in 250 women and one in 600 men carry the genes behind this most common inherited form of learning disability, with carriers more susceptible to symptoms like early menopause.

Being a carrier means women have a 50% risk of passing Fragile X to their kids, while men will only pass it to their daughters. The syndrome touches roughly one in 4,000 lads and one in 6,000 girls across the globe, leading to a variety of developmental difficulties.

Pete Richardson, the Fragile X Society's manager, expressed his concern: "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."

Those with a family backdrop sprinkled with intellectual disability, autism of unknown origin, or unexplained developmental delays might be at a greater risk of carrying Fragile X. Furthermore, signs include infertility issues tied to elevated follicle-stimulating hormone levels or premature ovarian failure, reports Gloucestershire Live.

Women who experience early signs of menopause might also face a 2-15% chance of being carriers of Fragile X, according to Mr Richardson. He stressed: "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 Fragile X Society advises that individuals who suspect they may be carriers can request a Fragile X (FMR1) DNA test from healthcare providers.

Alex McQuade, aged 41, became concerned when her baby failed to meet developmental milestones. She recounted: "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, initially believed their son Evan's, now 10, challenges were unique.

But then their second child, Xander, now seven, displayed similar issues. Mrs McQuade shared: "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."

What is Fragile X syndrome?

Mr Richardson explains: "Fragile X Syndrome (FXS) is the most common inherited cause of learning disability. The condition affects approximately one in 4,000 males and one in 6,000 females. It can cause a wide range of difficulties with learning, as well as social, language, attentional, emotional and behavioural problems."

Richardson also wants to dispel some misconceptions about the condition's link to family history and gender. "The mutation that causes FXS can grow larger when passed on to the next generation, so people with FXS may not have a family history," she explains. "Also, both girls and boys can have FXS. However, females often have a milder presentation of the syndrome's features."

What causes it?

"Fragile X syndrome is caused by a change in the FMR1 gene, and the FMR1 gene is located on the X chromosome," Richardson clarifies. "This abnormal gene, which can be passed from generation to generation, is usually inherited through the gene that is carried by women."

She adds: "Although both males and females can be FMR1 carriers, and can pass the premutation on to their offspring."

What are the symptoms?

Fragile X syndrome manifests in a variety of physical, mental and behavioural symptoms, including mild to severe intellectual disability. "Common behavioural features include short attention span, distractibility, impulsiveness, restlessness, over activity and sensory problems," Richardson points out. "Learning disabilities occur in almost all males with Fragile X, to differing degrees."

However, she notes that 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, the impact of the condition varies," Richardson explained. "Some females appear unaffected, others have a mild learning disability, and some have a more severe learning disability.

"Girls with or without learning disabilities may show concentration problems and social, emotional and communication difficulties related to extreme shyness and anxiety in social situations. There are some physical features associated with Fragile X, but these are often not very obvious in young children.

"Physical features include a long face, large or prominent ears, and flat feet – which usually become more noticeable in young adults than in children and in males more than females," Richardson added. "Males with the condition may also have enlarged testes."

Are carriers of Fragile X at risk of any health problems?

Women carriers often experience early menopause. Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) is a condition that can affect carrier women under the age of 40," Richardson pointed out. "Symptoms include decreased or abnormal ovarian function, which can lead to infertility or fertility problems, irregular or absent periods, or premature ovarian failure."

"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."

How is it diagnosed?

The only way to diagnose someone with the condition is through a DNA test. "This process is easier if there is an identified carrier already in the family, or someone with Fragile X syndrome and can be arranged by a GP/family doctor, or any physician or genetic counsellor," Richardson clarifies.

How is it managed or treated?

While there's no cure, Richardson stresses that certain treatments can alleviate symptoms of the condition. "Individuals with Fragile X who receive appropriate education, therapy services, and medications have the best chance of using all of their individual capabilities and skills," he notes. "Even those with an intellectual or developmental disability can learn to master many self-help skills."

Early intervention is crucial, according to Richardson. "Because a young child's brain is still forming, early intervention gives children the best start possible and the greatest chance of developing a full range of skills," he says. "The sooner a child with Fragile X syndrome gets treatment, the more opportunity there is for learning."

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