How Does Fragile X Syndrome Affect People?
A wide range of characteristics are associated with Fragile X syndrome. However an individual person with Fragile X syndrome may only experience some of these characteristics, and the degree to which a person may be affected by Fragile X syndrome will vary.
Developmental disability is the key presentation of Fragile X syndrome, and typically in males includes intellectual disability. Females commonly appear less affected by Fragile X syndrome, but this is not always the case and some will be severely affected.
IN MALES
DEVELOPMENTAL
- Developmental delay
- Learning difficulties
- Intellectual disability
- Speech and language difficulties
- Fine and gross motor issues
- Difficulty with coordination
BEHAVIOURAL AND EMOTIONAL
- Anxiety
- Attention Deficit Hyperactivity Disorders (ADHD)
- Autism spectrum disorders, autistic type behaviours
- Hyperarousal
- Difficulty with eye contact
- Mood instability
- Sensory processing issues including aversion to touch, loud noises, bright lights
PHYSICAL
There are some physical features associated with Fragile X syndrome, but they may be subtle or not present:
- Low muscle tone and loose joints
- Vision and hearing issues
- Long narrow face, prominent ears (older males)
- Flat feet
- Large testicles (post-pubescent males)
- Mitral valve prolapse
IN FEMALES
DEVELOPMENTAL
About one-third of females with Fragile X syndrome have a significant intellectual disability. Others may have moderate or mild learning disabilities, emotional/mental health issues, general anxiety, and/or social anxiety.
BEHAVIOURAL AND EMOTIONAL
Characteristics seen in males with Fragile X syndrome can also be seen in females, though females often have milder intellectual disability and a milder presentation of other characteristics.
A small percentage of females with Fragile X syndrome full mutation will have no apparent signs of the condition—intellectual, behavioural, or physical. These females are often identified only after another family member has been diagnosed.
To learn more:
Video produced by Fragile X Association of Australia
Video produced by Fragile X Society UK (7 minutes)
Article from Medical Observer journal
Females with Fragile X syndrome
Video produced by Fragile X Society UK (5 minutes)