Fragile X
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder. The average IQ in males with FXS is under 55, while affected females tend to be in the borderline to normal range, typically around 70–85. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females.
This disorder and finding of fragile X syndrome has an X-linked dominant inheritance. It is typically caused by an expansion of the CGG triplet repeat within the FMR1 (fragile X messenger ribonucleoprotein 1) gene on the X chromosome. This results in silencing (methylation) of this part of the gene and a deficiency of the resultant protein (FMRP), which is required for the normal development of connections between neurons. Diagnosis requires genetic testing to determine the number of CGG repeats in the FMR1 gene. Normally, there are between 5 and 40 repeats; fragile X syndrome occurs with more than 200. A premutation is said to be present when the gene has between 55 and 200 repeats; females with a premutation have an increased risk of having an affected child. Testing for premutation carriers may allow for genetic counseling.
There is no cure or approved medications for treating the condition. Early intervention is recommended, as it provides the most opportunity for developing a full range of skills. These interventions may include special education, occupational therapy, speech therapy, physical therapy, or behavioral therapy. Medications may be used to treat associated anxiety, seizures, mood problems, aggressive behavior, or ADHD. Fragile X syndrome tends to show more symptoms on affected males since females have another X chromosome which can compensate for the damaged one.
Fragile X syndrome is the most common cause of inherited intellectual disability, affecting an estimated 1 per 4,000 people. It is also the most common single gene cause of autism.
Between Worlds
- 2021-03-19T00:00:00.000000Z
Chromatherapy
- 2020-11-20T00:00:00.000000Z
Panzer Kunst
- 2020-04-03T00:00:00.000000Z
Farrago
- 2018-10-29T00:00:00.000000Z
Similar Artists