Fragile X

Overview

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.

Onset

Affected individuals usually have delayed development of speech and language by age 2.

Prevalence

Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.

Comorbid Conditions

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 disorder that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.

Physical Characteristics

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.

Diagnosis

Nearly all cases of fragile X syndrome are caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is expanded within the FMR1 gene.

Research-Based Treatments

There is no single treatment for Fragile X syndrome, but there are treatments that help minimize the symptoms of the condition. Individuals with Fragile X who receive appropriate education, therapy services, and medications have the best chance of using all of their individual capabilities and skills.

1. 1. Treatment Interventions
  2. Treatment Guidelines

Additional Early Interventions resource for Parents:

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Additional Parent Resource for life skills: CLICK HERE

Books

Children with Fragile X Syndrome: A Parents' Guide by Jayne Dixon Weber

Fragile X syndrome is one of the most common genetic causes of developmental delays, learning disabilities and particular physical characteristics. This guide looks at the issues from diagnosis to legal rights, covering emotional and practical concerns, advocacy and education.

X Stories: The Personal Side Of Fragile X Syndrome by Charles W. Luckmann, Paul Piper

The Personal Side of Fragile X Syndrome, people who have been touched by fragile X tell in their own words how the experience has touched and transformed their lives.

Fragile X Fred by Julia Bassell, Jayne Dixon Weber, Jeannie Visootsak MD, Jordana Roteman Slawin (Illustrator)

Look around you. Every person you meet has been molded by an intertwining of genetic information and personal experience. Fragile X syndrome is a genetic disorder that is not widely understood. This book aims to help people of all ages understand that although individuals with fragile X syndrome do have certain challenges, these challenges do not define them. This book is a valuable tool for educators, siblings, parents, and children with fragile X syndrome