While there is currently no cure, there are many areas of treatment and intervention that can improve the lives of affected individuals and their families. Given the proper education, therapy, and support, all persons with FXS can make progress. Medications can be very helpful for management of common behavioural and emotional conditions seen in FXS such as anxiety, ADHD, obsessive compulsive behaviour and mood instability. Most children with FXS qualify for special education services. Education can be complemented by a variety of therapies that will help your child become more independent in the transitions from childhood through adolescence and into adulthood.
Fragile X-Associated Primary Ovarian Insufficiency-
Many women who are FMR1 permutation carriers can get pregnant. However, all carriers are at risk to have children with FXS so should meet with a genetic counsellor to discuss reproductive issues. Some carriers are initially identified because they have fertility problems and are considering fertility treatment. If you do not have normal fertility, you can discuss various assisted reproductive options with your reproductive endocrinologist, including IVF with your own eggs, IVF with eggs donated by a non-carrier, attempting to get pregnant naturally, or adoption.
Fragile X–Associated Tremor/Ataxia Syndrome
Therapy that is most likely to help in any disease has been tested in well designed and executed clinical trials. However, FXTAS was only first published in 2001, so there has not yet been any treatments studied well enough to know if they definitely help.
The symptoms of FXTAS are known to vary from one person to another; so the best treatment options vary from person to person. Useful treatments for FXTAS include:
- Psychological and genetic counselling
- Rehabilitative treatments such as speech, occupational, and physical therapy
- Gait training
- Family supportive services and counselling are also important
Special thanks to the National Fragile X Foundation, USA for use of this content.