Fragile X syndrome is the most common form of inherited developmental disability.
The cause
It is caused by a problem in a specific gene. Normally that gene makes a protein the brain needs to develop. In Fragile X, the change in the gene means a person makes little or none of the protein, and that causes the symptoms.
Symptoms
How severe it is depends on the size of the change in the gene. People with only a small change may show no signs at all. People with larger changes can have severe symptoms, which may include:
- intellectual problems, from learning disabilities to severe intellectual disability;
- social and emotional problems, such as aggression in boys or shyness in girls;
- speech and language problems, especially in boys.
Diagnosis and treatment
A genetic blood test can diagnose Fragile X. There is no cure, but some symptoms can be treated with educational, behavioural or physical therapy and with medicines. Starting treatment early can help.
Sources
- MedlinePlus, U.S. National Library of Medicine, "Fragile X Syndrome," drawing on the National Institute of Child Health and Human Development (NIH). https://medlineplus.gov/fragilexsyndrome.html
- Rewritten in hubnx's own words.
이용 허락: CC0 1.0 (퍼블릭 도메인) · 출처 medlineplus.gov
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