Fragile X and autism: a multicenter survey.
We screened 183 autistic males for the fra(X) and found 24 (13.1%) to be positive. Adding the subjects of this study to those of 11 other surveys, of which 6 were positive and 5 were negative, a total of 614 autistic males have been screened. Overall 47 (7.7%) were positive. Based on this estimate and the prevalence of autism and fra(X), we estimate that 12.3% of fra(X) males are autistic. We have found that 17.3% of our fra(X) males were autistic and overall a 21.2% frequency has been reported, these higher figures are most likely due to biases in age and ascertainment. With an overall 7.7% frequency of fra(X) among autistic males and an estimated 12.3% of autism among fra(X) males, we conclude there is likely to be a significant association of fra(X) with autism. Because fra(X) appears to be the single most common cause of the condition, chromosomal testing is recommended for any autistic person with undiagnosed etiology.
D001321:Autistic Disorder / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D005600:Fragile X Syndrome / Q000150:complications* / Q000453:epidemiology / Q000523:psychology; D005820:Genetic Testing; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations / Q000150:complications*