A charity is urging GPs to test patients for a genetic condition that is the most common inherited cause of learning disability. Fragile X syndrome is caused by an alteration to a gene on the X chromosome, disrupting the production of a protein crucial for brain development. Fragile X affects about one in 4,000 males and one in 6,000 females, causing various developmental issues.
According to the Fragile X Society, roughly one in 250 women and one in 600 men carry the abnormal gene responsible for Fragile X syndrome. Female carriers are at higher risk of early menopause. Women with the gene have a 50% chance of passing it on to their children, while affected men pass it on to daughters, but not sons. Pete Richardson, managing director of the Fragile X Society, highlighted a lack of awareness around Fragile X syndrome, stressing the importance of testing carriers.
Individuals with a family history of Fragile X syndrome, intellectual disability, developmental delay, or autism, as well as infertility problems and ovarian insufficiency, are at higher risk. Medical professionals can conduct a Fragile X (FMR1) DNA test for those who suspect being carriers. Alex McQuade’s children, Evan and Xander, were diagnosed with Fragile X syndrome after missed developmental milestones raised concerns, emphasizing the need for increased awareness and testing.