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Correlation analysis between macrocephaly and autism spectrum disorder in low-aged children
Author(s): 
Pages: 584-588
Year: Issue:  9
Journal: New Chinese Medicine

Keyword:  Autism spectrum disorderEndophenotypeMacrocephalySocial impairment;
Abstract: Objective To compare the clinical symptoms between autism spectrum disorder (ASD) children with macrocephaly and ASD counterparts with normal head circumference,aiming to analyze the corre-lation between head circumference and clinical characteristics of ASD and investigate the clinical significance of macrocephaly as the endophenotype of ASD.Methods The scores of autism diagnostic interview-revised (ADI-R)of 36 ASD children with macrocephaly (macrocephaly group)and 103 ASD counterparts with normal head circumference (normal head circumference group)were analyzed.The scores of each diagnostic item of the ADI-R were statistically compared between the two groups.The correlations between head circumference and ADI-R scores was analyzed by Pearson correlation analysis.Results ① The “social interaction abnormal-ity”score in the macrocephaly group was significantly higher compared with that in the normal head circumfer-ence group (P =0.002).The scores of “communication abnormality”and “restricted /repetitive /stereotyped behavioral patterns”did not significantly differ between two groups (P >0.05).② The ASD boys with macro-cephaly had considerably higher score of “social interaction abnormality”than that in their counterparts with normal head circumference (P =0.002)rather than in the affected girls between two groups (P >0.05).The“social interaction abnormality”score in the ASD children with macrocephaly aged ≤ 36 months was consider-ably higher than that in the ASD counterparts with normal head circumference of the same age (P <0.001), whereas no statistical significance was noted in children aged >36 months between two groups (P >0.05).③ Head circumference was positively correlated with the score of “social interaction abnormality”(r =0.193, P =0.023),whereas no correlation was found between head circumference and “restricted /repetitive /stereo-typed behavioral patterns”(r =-0.128,P =0.134).Conclusions Compared with ASD children with nor-mal head circumference,ASD counterparts with macrocephaly develop more severe social impairment.Head circumference exerts different influence upon children of different age and gender.Macrocephaly probably serves as a potential endophenotype of ASD.
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