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News for the fragile X community. Research, what findings mean for families, event highlights, and study announcements.


Health Problems Faced by Individuals with the Fragile X Premutation

Consulting at doctor's office

We used to think the only risk to fragile X carriers was the chance of having a child with fragile X syndrome. However, in the past 15 years, we have learned this isn't true. In fact, research has found a range of health issues that are linked with being a carrier, or having a premutation. So, what do we know about the health risks that carriers face?

Understanding the risk of health issues linked with the fragile X premutation is crucial for families and health care providers alike. To offer the best care, health professionals need to be able to consider all the risks that patients with a premutation face. Research in these areas can help families make decisions about having children. It can also help them prepare for health problems that could become worse as they grow older.

Reproductive Health Problems

We know that women with the premutation have a higher risk for Fragile X Associated Primary Ovarian Insufficiency (FXPOI). Women with FXPOI can have early ovarian aging and dysfunction, such as menopause before age 40. Other reproductive health issues they can have are:

The Our Fragile X World research team, led by Anne Wheeler, has looked at other reproductive and fertility issues in women with a premutation. In a large national survey, we found that women who had FXPOI were more likely to have dizziness, nausea, and muscle weakness than women who did not. Further, women with a premutation were more likely to have used reproductive assistance, such as IVF or fertility drugs, than women without a premutation. They were also more likely to have had preeclampsia, a complication of pregnancy marked by high blood pressure.

Physical Problems

It's well known that individuals with the premutation can develop Fragile X Associated Tremor/Ataxia Syndrome (FXTAS). People with FXTAS can have physical problems such as tremors and problems with memory and thinking skills. Those with FXTAS are more likely to have other health problems, such as:

Emotional Problems

Mental health issues are also a concern for individuals with the premutation, such as:

Stress plays a role in the severity of mental health disorders. The stress of parenting a child with fragile X syndrome, combined with genetic risk related to having the premutation, can multiply one's risk for mental health problems.

Our research team is starting to do more research into factors that can protect against stress. Later this spring, Dr. Wheeler will be doing a study on how mothers with a premutation cope with stress. It will also look at how mindfulness and meditation could help caregivers of individuals with fragile X syndrome.

For More Information

The UK Fragile X Society has a more detailed summary of the health and reproductive features related to being a female fragile X carrier. The summary is based on a systematic literature review by Dr. Wheeler and colleagues. For additional resources for learning about or dealing with health issues faced by premutation carriers, see our Resources for Families.

To get involved in future Our Fragile X World studies, please consider signing up for our registry, where you can hear about upcoming research studies and learn how you can take part.

What are your thoughts on the health issues faced by fragile X carriers? Where do you think more research is needed? Please consider sharing your story with us. We hope to hear from you!