Gender Differences in Autism Spectrum Disorders in a Population-Based Twin Sample: testing three hypotheses for male preponderance.

Lead Research Organisation: King's College London
Department Name: Social Genetic and Dev Psychiatry Centre

Abstract

The proposed research aims to investigate gender differences across the full range of the autism spectrum, in a population-based sample of twins. Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterised by difficulties in social behaviour and communication, with restricted/repetitive behaviours and interests. One of the most striking features of ASD is the high male to female ratio, which varies across the spectrum, but is usually estimated at 4-5:1. The higher rate of ASD in males has been seen as a clue to the etiology of ASD; e.g. Baron-Cohen's 'extreme male brain' theory (Baron-Cohen, 2002) or the Female Protective Effect (FPE; e.g. Robinson et al., 2013). However, it is also possible that ASD is less well recognised in females, either due to male-stereotypes or genuine compensation. It is important to know whether current diagnostic practices miss females who would benefit from identification and intervention.

The proposed study aims to address directly the question of whether females with high ASD traits are being missed by diagnostic practices or are instead coping/compensating and do not need a diagnosis. To do this the proposed research will compare four participant groups; females and males who meet diagnostic criteria for ASD, and females and males who score highly for ASD traits, but who do not meet diagnostic criteria. A battery of gold-standard diagnostic tools, cognitive tasks, measures of coping, quality of life, co-morbidities and mental and physical health will be completed by the four groups. This design will allow not only comparison of symptom presentation and cognitive profiles across genders, but also examination of whether high trait females without a diagnosis are compensating or instead 'suffering in silence'. It is vital to understand whether, and why, we fail to diagnose ASD in females, in order to clarify whether the current gender disparity is purely biological or also a reflection, in part, of problems with a male-focused conceptualisation, recognition, assessment or diagnosis of ASD.

The proposed study is part of a longitudinal ASD twin study, nested within the larger Twins Early Development Study (TEDS). This design allows for the inclusion of non ASD co-twins and thus a more family wide exploration of gender, as well as specific examination of the FPE hypothesis, which suggests that a greater etiological 'load' is needed to result in ASD in females than males. Along with the FPE the proposed study tests two further, novel hypotheses: the 'Female Masking Effect' whereby females are less likely to receive a diagnosis of ASD because they are missed by male-focused diagnostic processes, and the 'Female Compensatory Effect' whereby females are less likely to receive a diagnosis of ASD because (in the absence of IQ/co-morbid problems) they cope better with high ASD traits via compensation and therefore do not need a diagnosis.

The population-based design of the proposed study and the inclusion of the full ASD spectrum, address previous limitations with research in this area, such as possible sampling bias (due to use of clinic or volunteer register samples) and circularity (due to inclusion of only those meeting current diagnostic criteria).

The proposed study has the potential to change the way we think about ASD; currently the accepted ratio of 4-5:1 informs research design and sample selection, and females are often excluded from research. The proposed study will tell the research/clinical/stakeholder communities whether and why this ratio may reflect bias in recognition/assessment/diagnosis, with far reaching implications for future research. In addition, the study has potential benefits for females with high traits/ASD by listening to and learning from their experiences. The proposed study has the potential to improve recognition of ASD in females, as a first step to targeting services and rebalancing the scientific and public perception of ASD.

Planned Impact

There are four groups who will benefit from the proposed research. 1)The academic community and researchers working in the fields of ASD and other areas of female mental health and wellbeing will benefit from improved knowledge about females with ASD. Our population-based research with the full ASD spectrum, including high trait non-diagnosed cases, will provide much needed quantitative and qualitative information about the female presentation of ASD. Our research papers and presentations will clarify for the research community whether females are being missed by current ASD concepts and diagnostic processes, and whether the male preponderance is, in part, a reflection of gender differences in compensation and/or masking. This improved information will lead to better recognition and theoretical understanding of the female presentation of ASD. The proposed research will have far reaching conceptual impact for the research community in terms of reframing the debate about, and subsequent research into, gender in ASD.

2)Clinicians diagnosing and working with individuals with ASD and their families will benefit from our research. The research will provide evidence-based findings that will inform the current debate on the diagnosis of females with ASD, and could influence clinical aspects of ASD assessment, increasing the effectiveness of this and of targeting of service provision for females and their families. In addition to clinicians working specifically within ASD, the proposed research will also benefit those focusing on other mental health conditions more generally. If it is the case that females with ASD are missed by current diagnostic processes, it is highly likely that they are misdiagnosed with other conditions (e.g. psychosis) and/or that diagnostic over-shadowing is occurring from genuine co-morbidities (e.g. anorexia, anxiety). The proposed study findings will benefit those working in this field in terms of improving understanding and recognition of ASD in females.

3)Teachers of students with ASD, other mental health conditions or special educational needs will benefit from this research. The qualitative element of the study aims to discover issues most pertinent for females with ASD and high traits, including those relating to educational experiences. This information, teamed with the quantitative results on the presentation of ASD, will aid those working in educational settings. We will test hypotheses about compensation, and our findings may help educators maximise students' compensatory skills. During adolescence/young adulthood social demands may outstrip compensation in ASD, and we will also test hypotheses about unmet educational and social needs for females with ASD/high traits. Our research can establish whether female difficulties are over-looked, with implications for improving recognition in schools/further education. The findings of the proposed study will be used to highlight information about the female presentation of ASD, needs for specific help in education settings and possible strategies to help females develop to their full potential.

4)Women and girls with ASD (and those with high traits) and their families will benefit from the proposed research, as well as being key contributors through the qualitative and quantitative studies. The research will address how ASD is manifested in females versus males, and test three hypothesised sources of male preponderance. Better understanding will help females with ASD via improved recognition, diagnosis, and support. The research aims to develop evidence-based proposals for improving services for females with ASD (including, putatively, those currently unrecognised), to enhance quality of life and wellbeing.

The proposed research has the potential to contribute to the nation's health by vastly increasing our knowledge of gender differences in ASD, and improving recognition of, and services for, women and girls with ASD.

Publications

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Carter Leno V (2019) Exploring the neurocognitive correlates of challenging behaviours in young people with autism spectrum disorder. in Autism : the international journal of research and practice

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Lai MC (2017) Quantifying and exploring camouflaging in men and women with autism. in Autism : the international journal of research and practice

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Lai MC (2019) Neural self-representation in autistic women and association with 'compensatory camouflaging'. in Autism : the international journal of research and practice

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Livingston LA (2019) Good social skills despite poor theory of mind: exploring compensation in autism spectrum disorder. in Journal of child psychology and psychiatry, and allied disciplines

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Mehra C (2019) Childhood disintegrative disorder and autism spectrum disorder: a systematic review. in Developmental medicine and child neurology

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Milner V (2019) A Qualitative Exploration of the Female Experience of Autism Spectrum Disorder (ASD). in Journal of autism and developmental disorders

 
Description We are at an early stage of this grant, but have conducted interest groups and are completing qualitative analysis of concerns and experiences of women and girls on the autism spectrum. Key emerging themes include: trying to fit in, positive and negative impact of autism, other's perspectives on autism, ways of dealing with difficulties and potential obstacles.
Exploitation Route We have communicated our preliminary findings to teachers, to improve awareness and understanding of autism in girls.
Sectors Education

 
Description Our theoretical and qualitative work has contributed to a Girls and Autism Forum (under the auspices of the National Association of Head Teachers; NAHT), which has held one public conference and will hold another on April 2nd 2019. This Forum has also produced a book for teachers, parents and girls on the autism spectrum: 'Girls and Autism: Educational, Family and Personal Perspectives' Edited by Barry Carpenter, Francesca Happe and Jo Egerton (Routledge 2019).
First Year Of Impact 2018
Sector Education,Healthcare
Impact Types Societal

 
Description Autism Research Seminar Series 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Other audiences
Results and Impact Members of the research team gave a presentation to the SGDP Autism Research Seminars Series group, to an audience of academic staff, postgraduate and undergraduate students. The presentation provided an overview of gender issues in ASD and the current research in this area. The talk also presented details of the Social Relationships Study and the current grant, including details of the aims and hypotheses, methods and plans for analysis. The presentation sparked questions and discussion afterwards and approaches from others re future collaborative work on gender issues in ASD.
Year(s) Of Engagement Activity 2018
 
Description Autistica Board meeting presentation 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Third sector organisations
Results and Impact Invited presentation for the Board of the autism research charity Autistica, at their AGM.
Year(s) Of Engagement Activity 2018
 
Description Hannah Devlin interview for Guardian re women and autism 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Media (as a channel to the public)
Results and Impact Gave an interview about under-diagnosis of women with autism, and our ESRC-funded research on gender and autism, to Hannah Devlin, who published a substantial piece in the Saturday Guardian and online. Piece was picked up by a range of other media outlets, and there was interest on social media, and a number of enquiries to our team.
Year(s) Of Engagement Activity 2018
URL https://www.theguardian.com/society/2018/sep/14/thousands-of-autistic-girls-and-women-going-undiagno...
 
Description Keynote at British Neuropsychological Society meeting, November 2017 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Invited keynote talk, led to discussion and potential collaboration with clinicians and academics.
Year(s) Of Engagement Activity 2017
 
Description MRC Open Day 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact An Open Day was held at the SGDP research centre, which was open to the public, local schools, professional practitioners and students, mainly from the local area. The research team hosted a stall at the event and demonstrated a number of the measures used in the current research study and discussed the aims of the research with those attending.
Year(s) Of Engagement Activity 2017
 
Description Media showcase at ITV 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Media (as a channel to the public)
Results and Impact One of c. 15 female scientists invited to visit ITV for a media showcase with the Academy of Medical Sciences. Spoke about our autism gender work with follow-ups from journalists interested in covering findings in due course.
Year(s) Of Engagement Activity 2018
 
Description NAHT Girls on the Spectrum Conference 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact School leaders, health and education experts, parents, carers and women on the autistic spectrum gathered at a conference organised by National Association of Head Teachers and the National Forum for Neuroscience and Special Education, to draw attention to the misinformation, under-diagnosis and lack of representation for girls on the autistic spectrum. The ESRC funded research was highlighted in a 45 minute presentation by Happe, and new coverage of the issues appeard on, e.g., Chanel 4 News.
Year(s) Of Engagement Activity 2017
URL http://www.naht.org.uk/welcome/news-and-media/key-topics/special-education-needs/review-of-big-shout...
 
Description Parliamentary Rountable 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Policymakers/politicians
Results and Impact House of Lords Roundtable Discussion: "Girls on the autistic spectrum: understanding the impact of gaps in diagnosis and support". PI presented a summary of current research to stakeholders with an interest in autism from Parliament, Whitehall and beyond, who came together to explore what more can be done to identify and support girls on the autistic spectrum.
Year(s) Of Engagement Activity 2016
 
Description Plenary at Annual Conference of General Adult faculty of Royal College of Psychiatrists 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Gave invited plenary talk at Annual Conference of General Adult faculty of Royal College of Psychiatrists. Good feedback, and particularly re changes in autism concept and research. Possible future collaborations with clinicians explored.
Year(s) Of Engagement Activity 2018
 
Description Prime Minister's Council for Science and technology scoping workshop 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Policymakers/politicians
Results and Impact Invited to participate in PM Council for Science and technology scoping workshop on learning disability/neurodiversity and technology.
Year(s) Of Engagement Activity 2018
 
Description SLaM trust ASD Special Interest Group 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Members of the research team gave a presentation to the SLaM trust ASD Special Interest Group, to an audience of clinicians and professionals working across the SLaM trust. The presentation was intended to provide an overview of gender issues in ASD and to highlight the current research, including details of the aims and hypotheses, methods and plans for analysis. The presentation sparked questions and discussion afterwards and approaches from professionals re future collaborative work on gender issues in ASD.
Year(s) Of Engagement Activity 2016
 
Description Talk for National Autistic Society conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Invited to speak at a National Autistic Society conference in Leeds, for professionals (clinicians, teachers, therapists, etc), family members and other stakeholders.
Year(s) Of Engagement Activity 2019
 
Description Visit to Limpsfield Grange School 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Members of the research team visited Limpsfield Grange School, a state secondary special school provision for girls with ASD. The visit was an opportunity to meet with the Head Teacher Sarah Wild to discuss issues surrounding the identification and diagnosis of girls and women with ASD. Additionally the visit allowed the research team to meet some of the girls attending the school to hear their first hand lived experience of ASD. The visit provided discussion and a chance for the research team to learn a great deal about female ASD. The visit also allowed the school to learn about the current research study. The accounts of the pupils were included in the qualitative focus groups stage of the current study and will help to inform the design of interview questions and topic area focus for the main project.
Year(s) Of Engagement Activity 2016