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The fragile X marker and autism in perspective
Summary
Fragile X chromosome abnormality is not more common in autistic males than in the general mentally retarded male population. This study found a 2.4% incidence in carefully diagnosed autistic males, suggesting no increased autism risk beyond that of intellectual disability.
Area of Science:
- Genetics
- Neurodevelopmental disorders
- Autism Spectrum Disorders
Background:
- Previous studies reported a wide range (0-53%) of fragile X chromosome abnormality in autism, but often lacked clear diagnostic criteria.
- A need for fragile X chromosome analysis in well-defined autistic populations was identified.
Purpose of the Study:
- To determine the incidence of fragile X chromosome abnormality in a carefully diagnosed cohort of autistic males.
- To clarify the association between fragile X syndrome and autism spectrum disorder.
Main Methods:
- Chromosome analysis was performed on 85 autistic males.
- Participants were diagnosed using rigorous diagnostic criteria for autism.
Main Results:
- The fragile X chromosome abnormality was identified in 2.4% of the autistic males studied.
- This incidence is comparable to that observed in the mentally retarded male population.
Conclusions:
- The fragile X chromosome abnormality does not appear to confer an increased risk for autism beyond that associated with intellectual disability.
- The prevalence of fragile X in autism is likely similar to its prevalence in males with mental retardation.