Fragile X syndrome

Life expectancy for people with fragile X syndrome is generally normal. Many affected people participate in an active lifestyle and have good health. Some people are more prone to a number of medical problems, such as ear infections and/or seizures. Regular medical checkups and awareness of increased health risks may improve the outlook for affected people.^[1]

While the life span of people with fragile X syndrome (FXS) is typically normal, there is very little information in the medical literature about adults with FXS. The effect of specific medical problems or associated complications on adults with FXS may vary because not all affected people have the same features.

While affected males usually have moderate to severe intellectual disability, one third to half of affected females have average intellectual function. Because of this, some adult women with FXS may have very normative adult lives, including living independently; having a spouse or romantic partner; pursuing higher education; holding full-time jobs; having friends; and participating in a range of leisure activities. Adult men with FXS are more likely to have much more limited independence. However, there are likely considerable differences between all people with FXS.^[2]

Specific factors that affect people in adulthood may include functional level (e.g., ability to dress, eat and communicate); the degree to which they are able to interact with others (contributing to employment and friendships); and the presence of mental health problems such as anxiety and depression. Adults with FXS who also have an autism spectrum disorder diagnosis may have more limited independence in adult life than those with FXS only.^[2]

There is no specific treatment available for fragile X syndrome.  Management of this condition is generally supportive and may include:

• recognizing the need for special education and avoiding excessive stimulation, which may help with behavioral problems
• early educational intervention and special education that is tailored to specific learning difficulties; small class size, individual attention and avoidance of sudden change is often needed
• medications for behavioral issues that affect social interaction
• routine medical management of strabismus, ear infections, reflux, seizures, mitral valve prolapse, and/or high blood pressure.^[3]