Fragile X Syndrome
- September 9, 2021
- Posted by: OptimizeIAS Team
- Category: DPN Topics
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Fragile X Syndrome
Subject – Science and Tech
Context – In 2017, a man in Delhi, affected by autism, underwent his first DNA blood test at the age of 40. He tested positive for Fragile X Syndrome (FXS).
Concept –
- Fragile X syndrome is a genetic disorder that causes a range of developmental problems including learning disabilities and cognitive impairment.
- Usually, males are more severely affected by this disorder than females.
- Affected individuals usually have delayed development of speech and language by age 2.
- Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks.
- About one-third of individuals with fragile X syndrome have features of autism spectrum disorder that affect communication and social interaction.
- Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles.
- This is caused by changes in a gene called FMR1 which make an important protein (FMRP). This protein is required for brain development.
- Diagnosis requires genetic testing to determine the number of CGG repeats in the FMR1
- There is no cure. Early intervention is recommended, as it provides the most opportunity for developing a full range of skills. These interventions may include special education, speech therapy, physical therapy, or behavioral therapy.
- Fragile X syndrome is estimated to occur in 1.4 per 10,000 males and 0.9 per 10,000 females.