Category — 2.0 Children with Genetic Disorders: Fragile X Syndrome

Fragile X syndrome is a chromosomal condition in which part of the X chromosome is either deleted or broken. As you can see from the description of Fragile X syndrome in the 0 to 6 course, this disorder can affect boys and girls very differently. Girls have two X chromosomes and boys have one. If something happens to a girl’s X chromosome, she will have another X chromosome to make up for what went wrong with the first X chromosome, at least partly. Because boys have only one X chromosome, they are usually more seriously affected by the disorder than girls.

Here is how fragile X syndrome generally affects girls:

• They may have attention difficulties;
• They may have learning difficulties and even learning disabilities, especially in the mathematics area;
• They may have some sensory processing difficulties;
• They may have some delays in different aspects of language and communication;
• They may have social/emotional difficulties;
• They may have anxiety-based disorders, and may end up with a secondary diagnosis of an anxiety disorder;
• They may have low muscle tone.

Here is how fragile X syndrome generally affects boys:

• They may have serious learning difficulties and/or learning disabilities;
• They may have a mild to moderate intellectual disability;
• They may have serious attention difficulties and may get a secondary diagnosis of ADHD;
• They may struggle with language and communication;
• They may have mild to severe sensory processing difficulties;
• They may struggle with social/emotional issues, such as having difficulty making friends and having low self-esteem;
• They may have anxiety-based disorders, and may end up with a secondary diagnosis of an anxiety disorder;
• They may have distinct features such as long faces, large and outward-facing ears, and flat feet;
• They may have low muscle tone and may struggle with fine motor difficulties.

About 25% of children with fragile X syndrome also have epilepsy.

Children with fragile X syndrome can usually benefit from the following services, both at home and in school:

• Special education services: children with fragile X syndrome will need the help of a special educator, if they are to succeed in school. They can and should be included in regular classrooms, but the regular education teacher will need help from the Individualized Education Plan team in general, and the special educator in particular, in order to accommodate these children into the regular classroom;
• Speech therapy: children with fragile X syndrome will continue to benefit from speech therapy services. Speech therapists can help children with fragile X syndrome improve their expressive and receptive language skills, and their articulation and pragmatic skills;
• Occupational (OT) and physiotherapy (PT): children with fragile X syndrome who have fine motor difficulties or low muscle tone will continue to benefit greatly from the help of an OT or a PT;
• Sensory integration therapy: children with fragile X syndrome who have sensory processing difficulties will usually continue to benefit from the help of an OT who has special training in sensory integration therapy;
• Counseling or psychotherapy: some children with fragile X syndrome experience a lot of anxiety. Because of that many of them will benefit from counseling sessions from the school counselor. If their anxiety is severe, they may need full-fledged therapy from a psycho-therapist;
• Behavior intervention: children with fragile X syndrome may sometimes need the help of a behavior interventionist. That is because some of them have difficulty controlling their emotions and behaviors and may act out or have serious temper tantrums.

Most children with fragile X syndrome are fully included in the regular classroom with or without an aide and they usually have an IEP. They are also usually fully included in every aspect of their families’ lives (Fig. 1).

Figure 1. Family

see References

Carvajal, I. F. & Aldridge, D. (2011). Understanding Fragile X Syndrome. London, England: Jessica Kingsley Publications.

Weber, J. D. (Ed). (2000). Children Sith Fragile X Syndrome. Bethesda, MD: Woodbine House.

http://www.fraxa.org/