Colleagues from the Patrick Wild Centre have recently published a paper in BJGP journal with the focus on Fragile X Syndrome (FXS) in primary care. It argues that clinicians in primary care should be aware of the condition and in particular be vigilant for common comorbidities to allow for early treatment. It points out that the familial nature of FXS is of importance to general practice. The article summarises the common issues for individuals with FXS and carriers of the premutation.
The authors are most grateful to the input from the McDonald family, former family in residence at the Patrick Wild Centre (https://patrickwildcentre.com/family-in-residence/), and the board of the Fragile X Society for their helpful input into, and comments on, the article. Their input helped to shape the article and hopefully make it of the greatest relevance to affected individuals and families, and their GPs.