*please excuse the ableism. These are not my terms, they are from the Fragile X society in the UK and the CDC.*
Fragile X syndrome is the most common form of inherited intellectual disability in children. It is a genetic condition where there are changes in a gene that scientists call the fragile X mental retardation 1 (FMR1) gene when it was first discovered. Nearly all cases are caused by a mutation in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is expanded. Normally, this DNA segment is repeated from 5 to 40 times.
In people with fragile x syndrome, the CGG segment is repeated more than 200 times. FMR1 makes a protein called fragile x mental retardation protein (FMRP). FMRP is essential for typical brain development.
People with fragile x syndrome do not produce this protein. People who have other conditions related to fragile x have changes in their FMR1 gene but usually have some production.
Approximately 1 in 4000 AMAB have Fragile X syndrome and 1 in 8000 AFAB have Fragile X Syndrome.
- Developmental delays such as not sitting, walking or talking at the same time as other children at the same age
- learning disabilities
- social and behavior differences such as no eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking impulsively, very active.