Autism and Fragile X Syndrome

The relationship between autism and Fragile X Syndrome has proven to be both definite and complex. Not everyone with Fragile X syndrome is autistic, and not every autistic child has Fragile X Syndrome.

People with Fragile X Syndrome

Definitions: Autism and Fragile X Syndrome

The first step in understanding these two disorders is to look at their defining characteristics. Taking the latter first, Fragile X Syndrome is a genetic disorder carried by the X chromosome (the female one). A certain part of the DNA strand repeats itself hundreds or thousands of times in these chromosomes, and causes the symptoms of Fragile X.

In females who have two X chromosomes, it is possible that the DNA will be masked or compensated for by the other X inherited by the father or mother. However, that woman will still be a carrier. If she has a son, he only inherits one X chromosome, which means there is a high chance that he will have Fragile X Syndrome. Males who carry the gene will often pass it on and find an augmentation of the disorder in their sons. It has been proven that the disorder becomes worse in progressive generations.

Characteristics of Fragile X Syndrome

The symptoms of Fragile X Syndrome are both physical and mental:

• Large ears and long, narrow faces
• Enlarged testicles
• Hand-biting or hand-flapping behavior
• Mental retardation (an IQ between 20-80 is common)
• Attention-deficit hyperactivity disorder (ADHD)
• Hypersensitivity and difficulty with sensory integration
• Other cognitive disorders, such as perseveration (the repetition of words at the end of spoken sentences)

Relationship to Autism Spectrum Disorder

Anyone familiar with the symptoms of autism can see why a child with Fragile X Syndrome might be thought to be autistic – the wide variety of symptoms easily falls within the characteristics of Fragile X. However, there is one major difference in the majority of males with Fragile X in terms of socialization. They are immensely friendly and amiable, thriving on contact and communication with others both one on one and in group situations. This is very different from autistic children, who often have immense difficulty in relating to others. According to the Child Development Institute, it has been shown that children with Fragile X who are integrated into "normalized" educational and social environments "achieve above the level that would have been predicted from measured IQ". Parents and educators are encouraged to test and evaluate children early to determine the best strategy for treatment.

According to the National Fragile X Foundation, about 15-33% of the children with Fragile X Syndrome actually meet the criteria for Autism Spectrum Disorder according to the Childhood Autism Rating Scale (CARS). The wide variation comes partially due to changing diagnostic methods. Other genetic factors may account for the reason that some children with FXS have autism as well, but further study is underway to determine the factors.

Testing for Fragile X Syndrome

Because it is a definite genetic abnormality, it is completely possible for anyone, male, female, adult or child to be tested for the Fragile X gene. With nothing more than a drop of blood doctors can identify the chromosome and inform potential parents of the possibility. Men with a history of mental retardation in their family may be more likely to display the gene. However, the presence of it only means there is a chance that it will be passed on, not a certainty.

Treatment Similarities

Many of the strategies used by teachers and therapists for autistic children can also benefit children with Fragile X Syndrome. These include:

• Stable environments that do not overstimulate
• Sensory integration therapy by occupational therapists
• Accommodating the child's own routines rather than imposing outside systems
• Using alternative learning strategies such as visual learning to adapt to a child's style of processing information

Like autism, the most help for children with FXS is simply the concern, love, and dedication of the adults who care for them.

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• Lesson Plans for Autistic Children
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