A Review of the Differences in Developmental, Psychiatric, and Medical Endophenotypes Between Males and Females with Autism Spectrum Disorder

Eric Rubenstein, Lisa D. Wiggins, Li-Ching Lee

Research output: Contribution to journalReview article

Abstract

Autism spectrum disorder (ASD) is over four times more prevalent in males compared to females. Increased understanding of sex differences in ASD endophenotypes could add insight into possible etiologies and the assessment and management of the disorder. Consequently, the purpose of this review is to describe current literature regarding sex differences in the developmental, psychiatric, and medical endophenotypes of ASD in order to illustrate current knowledge and areas in need of further research. Our review found that repetitive behaviors and restricted interests are more common in males than females with ASD. Intellectual disability is more common in females than males with ASD. Attention to detail may be more common in males than females with ASD and epilepsy may be more common in females than males with ASD, although limited research in these areas prevent definitive conclusions from being drawn. There does not appear to be a sex difference in other developmental, psychiatric, and medical symptoms associated with ASD, or the research was contradictory or too sparse to establish a sex difference. Our review is unique in that it offers detailed discussion of sex differences in three major endophenotypes of ASD. Further research is needed to better understand why sex differences exist in certain ASD traits and to evaluate whether phenotypic sex differences are related to different pathways of development, assessment, and treatment of the disorder.

Original languageEnglish (US)
Pages (from-to)119-139
Number of pages21
JournalJournal of Developmental and Physical Disabilities
Volume27
Issue number1
DOIs
Publication statusPublished - 2014

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Keywords

  • Autism spectrum disorder
  • Co-occurring conditions
  • Endophenotypes
  • Sex differences

ASJC Scopus subject areas

  • Physical Therapy, Sports Therapy and Rehabilitation
  • Developmental and Educational Psychology

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