Sex Differences in Diagnosis and Clinical Phenotypes of Chinese Children with Autism Spectrum Disorder

Shihuan Wang,Jianying Li,Xiaobing Zou,Yuanyuan Zou,Chaoqun Ceng,Hongzhu Deng,Cong You,Chun Tang,Kaiyun Chen

doi:10.1007/s12264-017-0102-9

Abstract

The aim of this study was to explore the differences between boys and girls in the diagnosis and clinical phenotypes of autism spectrum disorder (ASD) in China's mainland. Children diagnosed with ASD (n = 1064, 228 females) were retrospectively included in the analysis. All children were assessed using the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS). The results showed that girls scored significantly higher in ADI-R socio-emotional reciprocity than boys, and also scored lower in ADI-R and ADOS restricted and repetitive behaviors (RRBs). Meanwhile, the proportions of girls who satisfied the diagnostic cut-off scores in the ADI-R RRBs domain were lower than in boys (P < 0.05). Our results indicated that girls with ASD show greater socio-emotional reciprocity than boys. Girls also tended to show fewer RRBs than boys, and the type of RRBs in girls differ from those in boys. The ADI-R was found to be less sensitive in girls, particularly for assessment in the RRBs domain.

Highlights

Autism spectrum disorder (ASD) is a set of heterogeneous neurodevelopmental disorders characterized by developmental delays in social communication and restricted and repetitive behaviors (RRBs) [1]
The results showed that girls scored significantly higher in Autism Diagnostic Interview-Revised (ADI-R) socioemotional reciprocity than boys, and scored lower in ADI-R and Autism Diagnostic Observation Schedule (ADOS) restricted and repetitive behaviors (RRBs)
Girls with autism spectrum disorder (ASD) (3.59 ± 1.87) scored lower than boys (4.55 ± 2.06) in total RRBs based on the ADI-R (F = 39.03, P \ 0.001; Effect Size (ES) = 0.32), and girls with ASD (2.02 ± 1.47) scored lower in RRBs than boys (2.30 ± 1.41) based on the ADOS (F = 7.73, P = 0.006; ES = 0.13)

Summary

Introduction

Autism spectrum disorder (ASD) is a set of heterogeneous neurodevelopmental disorders characterized by developmental delays in social communication and restricted and repetitive behaviors (RRBs) [1]. Based on the most recent epidemiological surveys, the global prevalence of ASD is estimated to be 1%–2% [2, 3]. While epidemiological studies have confirmed the male dominance in ASD, the reason for this is unclear. The original description, diagnostic criteria, and clinical data for ASD were based almost solely on males, with relatively few studies focusing on females. Several studies have reported that females with ASD might exhibit behaviors, cognitive functioning, neuroanatomy, and gene expression patterns different from males [6,7,8]. The characterization of ASD in females is far from complete

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