As listed in the general section on Fragile X Syndrome (FXS), people with FXS can be affected in various ways and a personalised approach to care and support is best. In females, the wide spectrum of FXS variability is due to the female having two X chromosomes (see our section on genetics). The unaffected X chromosome can compensate for the altered X chromosome. This balance between which X chromosome dominates in any particular cell is seemingly random.
Most females are only diagnosed when a male relative receives a FXS diagnosis, or if they are tested because there is FXS in the wider family (cascade testing). There is less literature defining how FXS affects females, as the early years of FXS research focused on males. There is a perception that women with FXS are generally affected with social anxiety, however, they also may or may not experience other symptoms and comorbidities, with estimates that ⅓ of women with FXS also have an intellectual disability. It is important that females are seen by a multidisciplinary team with full testing on how the एफएमआर1 gene alteration may be affecting them. Neuropsychiatric testing, to determine how learning might be impacted, is important. This can inform a girl’s strengths, which aid learning, as well as define areas which may need support. Psychological support to help with anxiety, pragmatic speech therapy to help with social interactions, and participation in groups to prevent isolation and encourage friendships, can all help.
It is important to understand there is a broad spectrum. Women with FXS have completed university degrees, with and without support, and have careers and families of their own. Other women, where the affected X chromosome has been more dominant, may have limited communication skills, learning disability and need more support, but also be social, outgoing and have happy, engaging personalities.
The National Fragile X Foundation have more information on women with FXS.
