What is Fragile X Syndrome? How does it relate to autism?

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Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.

Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.

Introduction to Fragile X Syndrome – closely linked with autism

Fragile X Infographic

This is the first in a series of new educational videos about Fragile X Syndrome, the most common inherited cause of learning disability. The video covers an introduction to behavioural and health features of the condition.

These videos have been funded thanks to a grant from Jeans for Genes. The features of Fragile X Syndrome are explained through interviews with Professor Jeremy Turk (Consultant Child and Adolescent Psychiatrist; Fragile X Society Speciality Advisor), as well as individuals and families living with Fragile X. Other videos in the series cover: Fragile X in girls and women; genetics and diagnosis; adulthood and looking to the future; the role of the Fragile X Society; and a video to meet the families involved in the films.