Fragile X syndrome can present itself in a variety of ways and in varying degrees. Some individuals experience significant challenges, while the impact on others is so minor they may never be diagnosed.
Symptoms can include:
- Intellectual impairment to varying degrees
- Delayed and abnormal speech
- Attention deficit hyperactivity disorder
- Anxiety and unstable moods
- Autistism in 20-25% of people
- Long face, large ears, flat feet
- Hyperextensible joints, especially fingers
- Seizures (epilepsy) in about 25% of people
The effect on boys tends to be more severe. Most boys have mental impairment and have some symptoms of autism.
Girls generally exhibit a milder form of Fragile X because they have two X chromosomes — one that works properly and one that doesn’t. As a result, females are able to produce enough of the FMRP (Fragile X mental retardation protein) to fill most of the body's needs, but not all. Autism is less common in girls and only one-third to one-half of girls have significant intellectual impairment. The rest have either normal IQ or learning disabilities.
Did you know...
Most boys with Fragile X have some symptoms of autism, but it is far less common in girls with Fragile X.