Title: Identifying autism phenotype dominant in females: addressing measurement bias in the assessment of the presentation of autism in women and developing a new psychometric tool assessing female-dominant phenotype of autism.?
Funder: Department of Health and Social Care

Abstract: Research questionIn the assessment of autism, which items lead to gender-biased measurements and how can new items be developed to identify the autism phenotype more equitably for females?BackgroundAutism Spectrum Condition (ASC) is a neurodevelopmental condition that historically has been considered a predominantly male condition, with current male to female ratio estimated at 3:1. Recent evidence suggests there are gender differences in the presentation of autism, and that current ASC assessments may fail to capture symptom manifestations common in women (referred to hereafter as the female-dominant phenotype of autism). AimTo develop and validate a Patient Reported Outcome Measure (PROM), which will assess the female-dominant phenotype of autism.MethodsA systematic review will be conducted to identify autism assessments, developed since the publication of the National Institute for Health and Care Excellence (NICE, 2014) guidelines. Research articles reporting on gender measurement invariance will be identified. The items that have been shown as gender-bias free will be included in the development of a new assessment tool for female-dominant phenotype of autism. Items that were found to be biased will be evaluated in terms of the suitability of their content to women. Items for which such investigations have not been reported in the literature will not be used.Focus groups with autistic women, clinicians and experts will be conducted to evaluate existing items and to develop additional ones. The resulting set of items will be administered to autistic women for pilot investigations. The items will be refined accordingly and re-administered along with other measures to a large sample of autistic women. The final questionnaire will be additionally administered to a large sample representative of the UK population. The psychometric properties and the dimensionality of the questionnaire will be investigated. Norms will be presented for the general population. The difference in the scores between those who identify as having autism and those who do not, will be investigated for the complete sample and with respect to gender. Timelines for deliveryPatient engagement will be ongoing throughout the project with focus groups organised every 4-6 months. During the first year, the systematic review and pilot study will be conducted, to create the preliminary pool of items. The second year will entail scale development and data collection in autistic women and in the general population. The first half of the final year will involve psychometric assessment and the second half will focus on the write up of the thesis and dissemination.Anticipated impact and disseminationA robust tool to assess female-dominant phenotype of autism will be developed in collaboration with autistic women and clinicians/experts using state-of-the-art psychometric methods. This will be the first tool in the literature to assess the female dominant phenotype. The findings will be disseminated in collaboration with the autistic community and will involve publications, presentations at national and international meetings, short videos and newsletters for non-academic audiences, and a web application with the newly developed questionnaire made publicly available.

Lay abstract: AimTo develop a measure for assessing manifestations of autism that go beyond the traditional male presentation.BackgroundAutism spectrum disorder (henceforth 'autism') is defined by differences in the way an individual relates to their environment in terms of social interactions, routine behaviours and interests, and in processing different sensations. Research indicates that more males are affected by the condition, with 3 to 4 males being diagnosed for every female. There is an increasing concern in the literature that the high male to female ratio may be due to some autistic females showing a different manifestation of autistic behaviours, which are not reflected in the tools currently used for screening and/or diagnosing autism, and thus go undiagnosed. It is possible that people of other genders may show these manifestations as well. Consequently, we will refer to these manifestations as 'female-dominant traits'. This is a measurement related problem, and this project is designed to investigate and address it.Design and methodsFirst, a study of the literature on existing questionnaires for autism in adults will be carried out. Published scientific articles will be reviewed to identify those where suitable statistical techniques were used to investigate whether the questions are interpreted in a similar manner by people of different genders. This will provide evidence as to whether the questionnaires often used in research and clinical practice can be confidently used for both genders. Questions identified as sufficient will be used to create a new questionnaire to assess female-dominant traits of autism. Additional questions will be created based on the input of autistic women, clinicians, and experts in the field. The resulting set of questions will be sent out to autistic women for feedback. The collected data will undergo extensive analysis to see if the questions are suitable, based on several statistical criteria, such as if the questions are responded to similarly over a short period of time. Depending on the results, questions will be removed, rephrased and/or added and re-administered in a large sample of autistic women. The process will be repeated until the results of analyses and feedback are satisfactory. Additional questionnaires related to autism will also be administered. The final questionnaire will then be administered to a large sample representative of the UK population, to evaluate its properties and to investigate differences in the scores from those who do versus do not identify as autistic, in total and by gender. Patient and public involvementThis project will be an ongoing collaboration with autistic women. Questions to be included in the new tool will be co-developed with members of the autistic community. Meetings with autistic women will be held every 4 to 6 months. Between those meetings, frequent contact will be maintained to share updates and results. Members of the autistic community will be given opportunities to co-author the publications. At the end of the project, the collaborators will be given a questionnaire to evaluate their involvement and the challenges and opportunities they experienced during the project. The responses will be used to learn and share with others the best engagement practices for autism research and areas for improvement.DisseminationThe results of these studies will be shared across academic and non-academic audiences with the help of the autistic collaborators. This will involve publications in scientific journals, presentations at national and international meetings, and uploading the data collected from this project online for other scientists to use. For non-academic audiences, short videos and newsletters explaining the findings will be shared across social media. Additionally, a web application will be created that will make the newly developed questionnaire publicly and freely available.

Research activity codes: 4.2 EVALUATION OF MARKERS AND TECHNOLOGIES
Health categories: MENTAL HEALTH