
*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.
Signs
- 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.
AMAB children who have fragile x syndrome usually are intellectually disabled that can range from mild to severe. AFAB with fragile x syndrome have normal intelligence or some degree of intellectual disability.
Testing and Diagnosis
Fragile x syndrome can be detected by testing the person’s DNA through a blood test. A doctor or genetic counselor can order the test if fragile x syndrome is suspected. Testing is also done to find changes in the FMR1 gene that can lead to related conditions.
A diagnosis can help people working with the child understand the child and educate themselves about fragile x syndrome.
Fragile X Syndrome is Not Autism
Fragile X Syndrome and autism are very similar. Fragile X syndrome there is a genetic test. Autism is just a description of patterns and characteristics with a genetic component but there is no know cause. Many behaviors that Fragile X syndrome people have are autistic like. Only 1/3 of people with fragile x syndrome have enough of these characteristics meet the autism diagnostic criteria. Only 2-6% of autistic people have fragile X syndrome.
Traits in people with Fragile X syndrome are more subtle than in autistic people. Autistic people with fragile X tend to be more socially responsive.

Sources:
https://www.cdc.gov/ncbddd/fxs/facts.html


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