In 2001, researchers supported by the
Intellectual and Developmental Diseases Branch (IDDB) discovered FXTAS.
The same NICHD-supported researchers have found that FXTAS is associated with other conditions. For example, sleep apnea is three times more common in people with FXTAS than in the general population. People with FXTAS are also at a higher lifetime risk of mood disorders, including major depressive disorder, anxiety disorder, and post-traumatic stress disorder. In addition, men with FXTAS are more likely to have high blood pressure than men without the
FMR1 premutation. (Men with the premutation who don't have FXTAS are not at increased hypertension risk.) (Sources: Hamlin, A., et al. (2011).
American Journal of Medical Genetics.
PMID: 21932336; Bourgeois, J. A., et al. (2011).
Journal of Clinical Psychiatry.
PMID: 20816038; and Hamlin, A., et al. (2012).
American Journal of Medical Genetics. Part A.
Researchers are studying the protective factors in carriers of FXTAS and the proteins involved in the pathogenesis to determine ways to prevent or reverse the process. They have also found early neurodevelopmental abnormalities in premutation mice, leading to the question of whether it is a lifelong process, and providing hope for the development of early intervention. (Source: Hagerman, P. J., (2012). Current gaps in understanding the molecular basis of FXTAS.
Tremor and Other Hyperkinetic Movements; New York: 63.)
Some people with
FMR1 premutations experience symptoms in childhood. For example, boys with
FMR1 premutations have a higher risk of seizures, compared with boys who do not have premutations. Also, boys who had seizures were also more likely to have an autism spectrum disorder. (Source: Chonchaiya, W. (2012).
Further research supported by the IDDB aims to explore how the
FMR1 premutation affects the development of children and the neurological health of adults. This research includes a study of 500 adults (age 40 years and older) and 150 boys (ages 8 to 16). In the boys, studies will focus on attention deficit hyperactivity disorder and social deficits, including autism spectrum disorder. In the adults, researchers will focus on age-related changes.1
Several NICHD-supported research groups are seeking ways to better diagnose and screen for fragile X mutations and premutations. One potential screening method currently being tested would analyze a small drop of blood on a paper card to detect fragile X syndrome in newborns.
Early physical recognition of the characteristics of fragile X syndrome is difficult, and this method uses new technologies that have been developed that can detect all categories of fragile X alleles, including full mutation expansions.2
To achieve its research goals for fragile X syndrome and associated disorders, the NICHD is involved with a variety of activities. Some of these activities are managed through the components listed above; others are part of NIH-wide or collaborative efforts in which the NICHD participates.
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