Autism and the fragile X syndrome

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Autism Spectrum Disorder

Background:

• The fragile X chromosome is linked to inherited mental retardation in males.
• Previous research suggests a possible association between infantile autism and fragile X.
• A recent study questioned this association, finding fragile X infrequently in a small autistic sample.

Purpose of the Study:

• To investigate the frequency of the fragile X chromosome in a larger cohort of autistic males.
• To clarify the association between fragile X and autism.

Main Methods:

• Genetic screening for the fragile X chromosome.
• Analysis of 144 autistic male subjects.

Main Results:

• The fragile X chromosome was identified in 18 out of 144 autistic male subjects.
• This finding indicates a relatively frequent association between fragile X and autism.

Conclusions:

• The association between fragile X and autism occurs relatively frequently in males.
• Results support epidemiological findings on the link between fragile X and autism.