A charity is calling on general practitioners to begin testing patients for Fragile X syndrome, a genetic condition identified as the most common inherited cause of learning disabilities. Experts have highlighted a concerning lack of awareness surrounding Fragile X syndrome, which is triggered by a gene alteration on the X chromosome that disrupts the production of a crucial brain development protein.
According to the Fragile X Society, approximately one in every 250 women and one in every 600 men are carriers of the mutated gene responsible for Fragile X syndrome. Female carriers face a higher likelihood of early menopause and have a 50% chance of passing the condition to their children. In contrast, affected men will only transmit it to their daughters, not sons. Fragile X syndrome impacts around one in 4,000 males and one in 6,000 females, leading to a spectrum of developmental challenges.
Pete Richardson, the managing director of the Fragile X Society, expressed, “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.” Individuals with a family history of Fragile X syndrome, intellectual disabilities, developmental delays, or autism of unknown origin, alongside fertility issues linked to elevated follicle-stimulating hormone levels or premature ovarian failure, are more likely carriers. Women with ovarian insufficiency also have a 2-15% chance of being Fragile X carriers.
Mr Richardson emphasised the importance of investigating Fragile X syndrome in cases of premature menopause, urging healthcare professionals to consider this as a potential cause. Patients concerned about carrying the gene can request a Fragile X (FMR1) DNA test from medical practitioners.
Alex McQuade, a parent from Leicestershire, highlighted the importance of genetic testing after her sons showed developmental delays. Her experience underscored the significance of understanding the genetic component of conditions like Fragile X syndrome. By raising awareness and promoting testing for Fragile X syndrome, healthcare providers can help individuals and families navigate the challenges associated with this genetic condition more effectively.