Fragile X and autism: a multicenter survey

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Autism Spectrum Disorder

Background:

• Fragile X (fraX) syndrome is a genetic disorder.
• Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition.
• The co-occurrence of fraX and ASD warrants further investigation.

Purpose of the Study:

• To determine the frequency of fraX in autistic males.
• To estimate the prevalence of autism in males with fraX.
• To assess the association between fraX and ASD.

Main Methods:

• Screening of 183 autistic males for fraX.
• Meta-analysis of current study with 11 prior surveys.
• Calculation of pooled frequencies and estimated associations.

Main Results:

• 24 out of 183 (13.1%) autistic males screened positive for fraX.
• Pooled analysis of 614 autistic males revealed a 7.7% fraX frequency.
• Estimated 12.3% of fraX males are autistic; 17.3% in this study.

Conclusions:

• A significant association exists between fraX and autism.
• fraX is a common cause of autism.
• Chromosomal testing for fraX is recommended for autistic individuals with undiagnosed etiology.