SPECIFIC CLINICAL PHENOTYPES IN AUTISM SPECTRUM DISORDERS ARE ASSOCIATED WITH GENDER PRESENTATION
אסתר בן יצחק-Esther Ben-Itzchak PhDa,b
שי בן שחר- Shay Ben-Shachar MDc
- דיצה צחורDitza A. Zachor MD b, d
aDepartment of Communication Disorders, Ariel University Center of Samaria, Ariel 40700, Israel
bThe Autism Center, Department of Pediatrics, Assaf Harofeh Medical Center, Zerifin 70300, Israel
cThe Genetic Institute, Tel Aviv Sourasky Medical Center, Tel-Aviv 64238, Israel
dTel Aviv University, Tel Aviv, Israel
Introduction: Autism spectrum disorder (ASD) is a heritable disorder occurring predominantly in males. This study compared the prevalence of specific clinical phenotypes commonly described in ASD in females and males.
Methods: The study included 697 participants aged 18 months-18.8 years diagnosed with ASD. Neurological and behavioral assessments were performed using standardized tests and obtaining of medical, developmental and familial histories from the parents. Phenotypes under investigation were macro-and microcephaly, developmental regression, minor neurological deficits (MND) and seizures.
Results: Male:female ratio in the ASD group was 7.3:1. Autism severity, cognitive and adaptive function did not differ among males and females. Mean head circumference percentile for males (50.0±25.6) was significantly larger than for females (43.3±29.9). Microcephaly and macrocephaly were more frequent in ASD than expected (5.8% and 19.4%, respectively). Microcephaly in females (14.4%) was significantly more prevalent than in males (4.5%). The prevalence of macrocephaly in both sexes did not differ. Regression was noted in 30.8% of the females with ASD, significantly higher than in males (18.5%). MND was documented in 72.6% of the females, significantly higher than in males (56.7%). Seizures prevalence did not differ significantly between the sexes. The relative representation of females increased in a group with two or more phenotypes (3.6:1) while male predominance was more significant in the group without any phenotypes (14.2:1).
Conclusion: Clinical phenotypes associated with ASD are more prevalent in females than in males, resulting in more complex clinical and neurological manifestations in females. Therefore, involvement of different etiologies is suggested in 'female ASD'.