Academic journal article International Journal of Child Health and Human Development

Specific Phenotypes in Autism Spectrum Disorders Are More Prevalent in Affected Females

Academic journal article International Journal of Child Health and Human Development

Specific Phenotypes in Autism Spectrum Disorders Are More Prevalent in Affected Females

Article excerpt

Autism spectrum disorders (ASD) represent a heterogeneous group of conditions. In addition to the classic triad of ASD (impaired language and communication and stereotyped behavior), some individuals show other phenotypes such as, accelerated head growth and macrocephaly, seizures (5-46%), developmental regression (15-30%) and various neurological deficits. Because females compose only about 20% of the ASD population, these female-specific characterizations may be overlooked when investigating the entire ASD group. We hypothesized that the presence of different clinical phenotypes represents more extensive brain involvement and will be associated with increased female's presentation in ASD.

Methods: The study included 611 participants aged 15m-18y (M=42.6m SD=28.4m) referred to a national autism center for diagnosis of ASD.

Results: Microcephaly (=3%) and macrocephaly (=97%) were more frequent in ASD than expected (5.9%, 22.4% respectively). The M:F ratio was significantly lower (p=.001) in the microcéphalie group (2.1:1; n=31) compared to the >3 HC percentile group (7.7:1; n=496), indicating an increased rate of microcephaly among females with ASD compared with males. However, M:F ratios in the macrocephalic group (6.2:1; n=118) and the <97 HC percentile group (10.4:1; n=409) were not significantly different. Seizures were documented in 5.8% of the ASD group (n=502). The rate of seizures among females with ASD was 13.4%, higher than the rate of 4.6% in the male population. M:F ratio in the seizures group was significantly lower (p<01)) than in the non-seizures group (2.5:1; 7.3:1 respectively). Regression was noted in 21. …

Search by... Author
Show... All Results Primary Sources Peer-reviewed

Oops!

An unknown error has occurred. Please click the button below to reload the page. If the problem persists, please try again in a little while.