Assessment of Autism Spectrum Disorder in Gender-Diverse Populations: A Systematic Review and Meta-Analysis.

Purpose

This review aimed to determine how autism spectrum disorder (ASD) and autistic traits are assessed in gender-diverse populations.

Methods

Following the Preferred Reporting Items for Systematic reviews and Meta-Analyses 2020 guidelines, we conducted a systematic review and meta-analysis of studies published from January 2013 in English or French that focused on gender-diverse individuals and reported diagnostic procedures and/or tools used to assess ASD. Only studies involving human participants were included. Reviews, meta-analyses, case reports, editorials, posters, and conference abstracts were excluded. Two independent reviewers screened records and extracted data using a standardized form, including study design, sample characteristics, diagnostic instruments, and assessment procedures. Data were synthesized qualitatively, and pooled prevalence estimates were calculated using random-effects meta-analysis when appropriate. Methodological quality and risk of bias were assessed using the Joanna Briggs Institute tools for analytical cross-sectional studies and for case-control studies.

Results

Twenty-eight studies met the inclusion criteria. Eighteen assessed ASD diagnoses; only six (33%) used robust diagnostic criteria, identifying 100 participants with a confirmed ASD diagnosis (5.4%) among 1855 participants. Other studies relied mainly on self-report or screening instruments. Twenty-three studies examined the broader autism phenotype using 13 different tools. The pooled prevalence of robust ASD diagnosis was 12% (95% confidence interval [CI] = 7%-19%), and broader autism phenotype prevalence was 24% (95% CI = 17%-33%).

Conclusions

Few studies met clinical gold standards. Elevated prevalence estimates may reflect methodological variability and barriers to appropriate evaluation. Training in both ASD and gender diversity is essential for inclusive and accurate diagnostic practices.