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Disorders commonly associated or sharing features with Fragile X

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Autism

Most males and about one-third of females with Fragile X show some autism-like behaviors, such as flapping hands, biting themselves, repetitious actions, and walking on toes. 14 About 33 percent of children with Fragile X show enough of these behaviors to receive a formal diagnosis of autism. 15 However, among people diagnosed with autism first, only about 4 percent are found to have an X chromosome with the FMR1 gene mutation.

Attention Deficit Disorder (ADD)/Attention Deficit Hyperactivity Disorder (ADHD)

Between 80 and 90 percent of males, and 35 to 47 percent of females with Fragile X have an attention disorder. 16,17 They are unable to focus their attention and stay with a task. They may be disorganized. Some are hyperactive and seem to be constantly in motion.

Connective Tissue Problems

Due to weak connective tissue, people with Fragile X have a higher risk of dislocating their joints and developing hernias and ear infections than those who aren’t affected by Fragile X. About half of adults with Fragile X have a heart murmur caused by mitral valve prolapse, 17 which is usually not life threatening.

Seizures

About 20 percent 6 of children with Fragile X also experience seizures. In most cases, seizures are successfully treated with medication and disappear by adolescence.

Premature Ovarian Failure (POF)

POF occurs when a woman’s ovaries stop working properly and she is under the age of 40. As mentioned earlier in this booklet, about 16 to 19 percent of females who carry a premutation gene for Fragile X experience POF, some as early as age 20. 10,11 Women with a full mutation gene for Fragile X are less likely to have POF, but do tend to go through menopause earlier than women who do not carry a mutated gene.

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Last Updated Date: 08/18/2006
Last Reviewed Date: 08/18/2006
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology