Urgent call for GPs to test for Fragile X syndrome, affecting one in every 250 women
Fragile X syndrome is caused by a genetic mutation that disrupts brain development, and one in 250 women are carriers, while one in 600 men have the condition
by Zahra Khaliq, Neil Shaw · ChronicleLiveGPs across the UK are being called upon to screen for Fragile X syndrome, known as the most prevalent genetic cause of learning disabilities, with estimates suggesting that around one in every 250 females carries the defective gene.
It's understood that Fragile X syndrome arises due to a gene mutation that can hinder brain development, the incidence found in about one in 250 women and approximately one in 600 men. Women who carry the gene face an increased threat of entering early menopause and have a fifty percent likelihood of transmitting the mutation to their offspring.
Men afflicted by it are certain to pass it to their daughters, yet their sons will not inherit it.
Around one in 4,000 males and one in 6,000 females are affected by this condition, which can lead to a spectrum of developmental problems, as reported by Wales Online. Highlighting the situation, a charity has voiced its call for more testing due to a "surprising lack of awareness" of the syndrome.
Addressing the issue, Pete Richardson, the managing director of the Fragile X Society, pointed out that many carriers remain unaware they're impacted, stating: "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.", reports the Mirror.
Individuals with a family history of Fragile X syndrome, intellectual disability, developmental delay, or autism of an unknown cause, as well as those with fertility issues, are at a heightened risk of being carriers. Women presenting early symptoms of menopause should be mindful that they may be harbouring Fragile X, which is frequently missed by medical professionals.
Mr Richardson highlighted the issue, stating: "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."
For individuals concerned about potentially carrying the gene, the advice from the Fragile X Society is to undergo a Fragile X (FMR1) DNA test. One case study involves 41 year old Alex McQuade, who grew worried when her son did not meet anticipated developmental milestones.
Reflecting on the process, she remarked: "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."
Residing in Groby, Leicestershire, the McQuades initially believed that the challenges faced by their first child were singular; this belief was disrupted when their second son exhibited akin traits. Sharing her journey, Mrs McQuade disclosed: "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."
So, what exactly is Fragile X syndrome, and how can one discern if they're a carrier?
Fragile X Syndrome is cited as the primary genetic cause of learning disabilities by Mr. Richardson, who notes its impact on approximately one out of every 4,000 boys and one in 6,000 girls. He explains, "It can cause a wide range of difficulties with learning, as well as social, language, attentional, emotional and behavioural problems."
He further mentions, "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. Also, both girls and boys can have FXS. However, females often have a milder presentation of the syndrome's features."
On the question of causation, Mr. Richardson clarifies that an anomaly in a gene leads to the condition, asserting: "Fragile X syndrome is caused by a change in the FMR1 gene, and the FMR1 gene is located on the X chromosome."
He adds, "This abnormal gene, which can be passed from generation to generation, is usually inherited through the gene that is carried by women. Although both males and females can be FMR1 carriers, and can pass the premutation on to their offspring."
When it comes to symptoms, Fragile X syndrome presents a collection of physical, cognitive and behavioural signs, which can range from mild intellectual challenges to severe disability. Richardson states, "Common behavioural features include short attention span, distractibility, impulsiveness, restlessness, over activity and sensory problems. Learning disabilities occur in almost all males with Fragile X, to differing degrees."
However, some females with Fragile X might not exhibit significant symptoms, stated by experts. "because females have two X chromosomes, and usually only one of them is affected by Fragile X, the impact of the condition varies. Some females appear unaffected, others have a mild learning disability, and some have a more severe learning disability."
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"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."
When referring to the physical characteristics associated with Fragile X, Richardson says they tend to be subtle in younger 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. Males with the condition may also have enlarged testes."
Addressing whether carriers of Fragile X could face any health issues, it seems that women carriers are indeed at risk of certain conditions. "Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) is a condition that can affect carrier women under the age of 40," Richardson explains.
"Symptoms include decreased or abnormal ovarian function, which can lead to infertility or fertility problems, irregular or absent periods, or premature ovarian failure."
There's a concern about the diagnosis process for women with early menopausal symptoms. Richardson stresses the importance of considering Fragile X as a potential cause: "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."
But how can the condition be diagnosed?
Discovering whether someone has the condition necessitates 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," explained Richardson.
When asked about management and treatment, Richardson emphasised that while there's no cure for the condition, there are treatments that can help manage its symptoms.
"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 noted. "Even those with an intellectual or developmental disability can learn to master many self-help skills."
Richardson also highlighted the significance of early intervention. Given that a young child's brain is still developing, "early intervention gives children the best start possible and the greatest chance of developing a full range of skills."
"The sooner a child with Fragile X syndrome gets treatment, the more opportunity there is for learning." he added.