Improving Diagnostic Procedures in Autism for Girls and Women: A Narrative Review

Abstract

Biases exist in the diagnostic process for autism spectrum disorder (henceforth “autism”), which result in some girls and women being diagnosed later or missed entirely. Current diagnostic tools may not capture the full range of behavioural presentations of autism, leading to under-identification. This review explores why these biases may occur, and how diagnostic procedures could be adapted to better identify autistic girls and women. We recommend that diagnostic assessments are adjusted to capture a broader range of behavioural exemplars of autism; that camouflaging of autistic traits is taken into account; and that care is taken to ensure co-occurring mental health conditions do not overshadow autism diagnosis. We offer recommendations, building on gold-standard diagnostic guidelines, for how diagnostic procedures can be improved for girls and women.

Keywords:

• autism
• girls
• women
• diagnosis

Summary

There is a diagnostic bias against autistic girls and women, meaning that they are more likely to fly under the diagnostic radar. In practice, this means that, compared to boys and men, they are more likely to be diagnosed autistic late, or not at all. Partly, this reflects the fact that sex and/or gender influences how autistic characteristics manifest. Many autistic girls and women do not fit the common diagnostic consensus about autism which, after all, is largely based on studies in with men and boys predominate. We argue that existing broad definitions of autism, for example, those in DSM-5 and ICD-11, can be used to assess autism in girls and women; and also that existing diagnostic processes and instruments are useful for all genders. As such, an assessment that draws on information from multiple informants (eg, the person being assessed, parents, teachers) and modalities (eg, direct observation, interview, questionnaire); and which centers around multidisciplinary case discussion is the gold standard for girls and women, as well as boys and men. Nevertheless, clinicians must be trained in how autism manifests in different genders. This can help them take a flexible and evidence-based approach to assessing for which specific behavioural manifestations can be characteristic of autism in girls and women. By following the recommendations listed here, clinicians can be more confident in producing an accurate diagnosis which will have clinical utility to the individual, particularly for women and girls.

Disclosure

Julia Cook and Laura Hull are co-first authors for this study. Dr Julia Cook reports funding from UK National Health Service (NHS) for part of her salary for clinical sessions in the NHS, during the conduct of the study. Dr Laura Hull reports grants and fellowship award from Rosetrees Trust & Elizabeth Blackwell Institute, University of Bristol, during the conduct of the study; consulting fees from One Green Bean PR, outside the submitted work. Prof WIll Mandy reports during the writing of this article receiving funding from the NIHR, ESRC, ERC, Dunhill Medical Trust and Autistica. The authors report no other conflicts of interest in this work.