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Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases. [12] [23] This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism. [12]
There is no known cure for ADNP syndrome, and so treatment is primarily symptomatic. This may include speech, occupational, and physical therapy and specialized learning programs depending on individual needs. [5] Early behavioral interventions can help children with speech delays gain self-care, social, and language skills.
It was so named because one part of the X chromosome has a defective piece that appears pinched and fragile when under a microscope. Fragile X syndrome affects about two to five percent of people with ASD. [40] If one child has Fragile X, there is a 50% chance that boys born to the same parents will have Fragile X (see Mendelian genetics ...
For more than 12 years, scientists have noticed that some individuals with autism also have idic(15). In fact, idic(15) is the most frequently identified chromosome problem in individuals with autism. (A chromosome anomaly involves extra or missing chromosomal material, not changes within the genes such as Fragile X syndrome). It is suggested ...
As the underlying ring chromosome is an innate genetic disorder, it cannot by itself be treated. Rather, treatment is symptomatic and supportive. Special education is generally indicated due to intellectual disability, while speech therapy may partially overcome speech delays. Physical therapy can assist with hypotonia.
Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms. Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. [2] [3] It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. [4]