Cross-Cutting Recommendation: Sex And Gender

The topic of sex and gender differences in autism is mentioned in several chapters of the Strategic Plan, indicating the Committee’s strong interest in this area. In the past, many inferences about the development and trajectory of autism and its co-occurring conditions have been made based on research studies where the participants were predominantly male and/or females were disproportionately excluded.¹ Thus, it will be critical in the future to under-stand and better serve the needs of girls, women, and/or lesbian, gay, bisexual, transgender, queer, intersex, asexual plus (LGBTQIA+) individuals on the autism spectrum.

The most recent prevalence data from the CDC suggests that autism is 3.8 times more prevalent in males vs. females;² other estimates have consistently estimated that males are 3-4 times more likely to be diagnosed with autism than females.³ These estimates may not, however, reflect the true ratio of autism in females versus males, as they are based on diagnoses made using definitions that were based on how autism typically presents in males and using screening and diagnostic instruments that were developed using predominantly male subjects in research. A recent longitudinal study examining infants and toddlers with an autistic sibling suggests ASD-associated behaviors occur equally in males and females.⁴ Many girls and women on the autism spectrum are missed early on or misdiagnosed with other mental health conditions before they receive an ASD diagnosis. It is therefore important for clinicians to be trained to recognize the differences in autism presentation among girls and women, as well as understand and recognize potential masking behaviors.⁵ Additional research is also needed to understand how the presentation of autistic traits may change over time.

More research is needed to understand autism in girls and women, unique aspects of their biology, psychology, and social context, and the potential effects of various types of bias and inequities in the identification process. Girls and women may also need different or customized approaches to intervention to meet their needs. With increasing understanding, awareness, and improvement of screening and diagnostic methods, it is likely that more girls will be identified with autism earlier in life and given the opportunity to be connected with supportive services sooner. Progress in these areas and in tailoring interventions and services to meet the unique needs of girls will be critical steps in closing gender gaps.

Biological Evidence for Sex Differences in Autism

One hypothesis proposed to explain the difference in prevalence is the "female protective effect" (FPE), which suggests that females are biologically 'protected' from autism such that, on average, a greater number of genetic factors is necessary for a female to display autism traits. There has been some research that supports the FPE concept,^6-8 but there are others in the field who question this hypothesis. In a recent study, researchers analyzing health records from a population-wide registry found that the unaffected sisters of autistic individuals were just as likely to have autistic children as the unaffected brothers of autistic individuals.⁹ This study demonstrates that a potential FPE cannot fully account for the sex differences in prevalence.¹⁰ It is therefore critical to continue exploring potential female protective effects and other genetic contrib-utors to autism that are differentially influenced by sex.

Differences in underlying biology may account for some of the differences in autism phenotypes based on sex (discussed further in Chapter 2). For example, autistic girls have been found to activate different parts of the brain in response to social stimuli than their neurotypical girl counterparts or autistic or neurotypical boys.¹¹ Girls also have been shown to activate neural reward circuits in response to social stimuli, while autistic boys decrease activation in the same part of the brain in response to similar stimuli. Another recent study used deep-learning technology to compare hundreds of brain scans of autistic and neurotypical girls and boys and found that autistic girls displayed unique brain connectivity patterns in areas of the brain involved in motor, language, and visuospatial attention.^{12, 13} These biological differences may influence how autism is expressed in girls and women and how they respond to their environments. Understanding the biology of autism in girls and women may help to develop person-alized interventions to better serve this population.

The Influence of Sex and Gender on the Presentation of Autism

The core features of autism often present differently in girls/women than in boys/men.¹⁴ For example, restricted interests in young girls are less likely to be viewed outside of the range of normal than in boys, often because their intense interests, such as animals and fashion, are in line with social expectations for girls.^{15, 16} Conversely, social communication is more likely to be affected in young girls diagnosed with ASD versus boys.¹⁷ Adolescent girls and adult women on the autism spectrum are more likely to present with internalizing traits, such as anxiety and depression, while boys/men typically display externalizing traits.¹⁸ Qualitative studies suggest that girls and women are also more likely to mask or camouflage their autistic features.^19-21 As a result of these and other factors, autistic girls/women are diagnosed later than autistic boys/men on average.^22-25 Recent studies have revealed intriguing results around motor regions of the brain in autistic girls. A study using an autism screener and developmental skills assessment found that girls with autism were more likely to present with signs of motor impairment than boys.²⁶ In a separate study using deep learning to compare brain scans of girls and boys with and without autism analyses showed that girls with autism had significantly different patterns of brain connectivity in motor areas.¹³ Together, these findings suggest that more investigation into motor and other brain differences in girls with autism may be warranted.

Studies have suggested that individuals on the autism spectrum are more likely to identify as LGBTQIA+ than neurotypical individuals.^27-30 This intersectionality between disability and gender identity or sexual orientation can result in increased social stress, stigma and discrimination, which can in turn contribute to reduced access to services and increased mental and physical health challenges. In order to address these issues, additional research is needed to better understand the unique needs of these populations.^{31, 32} It is also important to properly train medical practitioners and other service personnel on ways to properly interact with autistic individuals who identify as LGBTQIA+.

Sex-and Gender-Specific Services and Supports

Research has suggested that women on the autism spectrum have more or different physical and mental health care needs than men on the spectrum as well as neurotypical women.^33-35 Autistic LGBTQIA+ individuals also have unique healthcare needs. However, many autistic women and LGBTQIA+ individuals have difficulty accessing appropriate medical care, including routine reproductive health care and prenatal care.^35-37 Needs for educational or employment supports may also vary. It is important for service providers to be made aware of the potential differences in need and carefully listen and make adjustments to ensure that they are responding to the stated needs of all individuals on the autism spectrum. People of all genders and sexual orientations on the autism spectrum are more likely to report adverse sexual experiences than their neurotypical peers.^{30, 38} It is critical that autistic individuals receive age-appropriate sexual education.

Summary

As researchers continue to explore the biological mechanisms that underlie autistic traits and co-occurring conditions, it will be critical to identify sex- and gender- specific influences on life outcomes. It will also be important to develop and refine screening and diagnostic tools, interventions, and services that can accommodate the unique qualities and needs of girls, women, and members of the LGBTQIA+ community.

Recommendation

Cross-Cutting Recommendation 1: Support research to understand sex and gender differences in autism.

Examples:

• Understand differences in the presentation of autistic traits in girls and women to enhance screening and diagnosis.
• Conduct research exploring the influence of sex and gender on the underlying biology of autism (differences in brain structure, function, physiology) and how this may create differences in phenotype.
• Identify genetic and environmental factors that contribute to differences in phenotype.
• Understand differences in the social context, including the societal expectations and intersectional impacts of ableism and sex/gender/sexual orientation discrimination, that may influence outcomes for girls, women, and LGBTQIA+ individuals on the autism spectrum.
• Develop strategies to better meet the intervention, service, and support needs of girls and women and of LGBTQIA+ individuals with autism.

Cross-Cutting Recommendation: Promoting Equity and Reducing Disparities

The IACC supports the concepts of diversity, equity, inclusion, and accessibility within and for the autism community and the reduction of disparities in access to opportunities, services, and positive outcomes in health and well-being. People with disabilities, including autism, are a vital part of our diverse society, yet they often experience disadvantages, disparities, and discrimination. The work of the IACC has raised the profile of autism and increased autism awareness in an effort to foster inclusion and acceptance of autistic people. The IACC has also supported efforts toward reducing disparities that occur at the intersection of race/ethnicity and autism since the first IACC Strategic Plan was issued in 2009. At this time, with increased momentum from sources ranging from federal agencies to private organizations, more opportunity exists than ever before to promote equity and reduce disparities, and the Committee renews its commitment to this effort.

Underrepresented and underserved populations, as defined in the Strategic Plan, may include various groups identified by demographic factors (e.g., sex/gender presentation & orientation, race, ethnicity, age, language preference, socioeconomic status, urban/rural, etc.). The intersection between these underserved populations and autism often enhances disparities in health, social and economic well-being, and opportunities. The Committee recognizes that reducing disparities in underrepresented and underserved populations is an important aspect of all topics across the Strategic Plan.

Disparities among underrepresented and underserved populations with autism are evident across many research and service domains, including access to early assessment, diagnosis, therapeutic interventions, and social services in areas such as education, housing, employment, and justice. Prevalence estimates from the Centers for Disease Control and Prevention (CDC) show higher rates of ASD among Asian/Pacific Islander, Black, and Hispanic children than among White 4- and 8-year-old children in 2020.^1-3 This could suggest improvements in ASD identification among these groups leading to evidence of a higher occurrence of ASD, similar to other neurodevelopmental disorders in these populations. However, missed diagnosis or misdiagnosis is still more common among Black and Hispanic/Latino children.^{4, 5} The delays in diagnosis observed in some underrepresented groups may then lead to further delays in access to early intervention services for children on the autism spectrum, particularly during important periods in child development. Subsequently, across the lifespan, these disparities may compound, resulting in disparate negative health outcomes typically seen in underrepresented and underserved populations as they progress into and through adulthood.⁶

Addressing the causes of these disparities will involve examining the effect of discrimination, racism, ableism, cultural differences, and various social determinants of health (e.g., housing, educational and employment opportunities, geographic proximity to providers/specialists, crime and victimization, etc.) on the lifelong outcomes of autistic individuals. For example, for populations in rural settings, there are noted disparities in access to transportation, stable and reliable internet access, and access to appropriate healthcare services. These social determinants of health are key to providing a holistic view of how best to reduce disparities. Additionally, further disaggregating racial/ethnic data may assist in identifying critical within-group differences and disparities and allow service and resource delivery to populations most at need.^{7, 8} Consideration should also be given to qualitative research and mixed-methods approaches that may highlight disparities not yet captured in quantitative studies.

Despite the heterogeneity of autism presentation and support needs, much of the autism research in previous decades had been conducted in mostly White, male, middle- to upper-class children with higher cognitive and language abilities. Improving the diversity of participants will aid in improving the generalizability and applicability of research findings to broader populations of the autism community. For example, disparities have been noted in the lack of inclusion of research participants from female/gender minorites,⁹ racial and ethnic minorites,¹⁰ lower socioeconomic status,¹¹ rural,¹² and older adults.¹³ As a result, their historic lack of inclusion in intervention and services research has resulted in notable gaps in the literature, potentially limiting the ability of autism programs and funding from effectively reaching these underrepresented populations to reduce disparities.

As more intersectional approaches are being developed in the investigation of autism disparities, researchers, educators, and care providers have begun embedding aspects of cultural competency, culturally responsiveness, and cultural humility into their respective practices. Becoming more culturally competent entails increasing provider knowledge, confidence, and self-efficacy in communicating and working with diverse patients, while being culturally responsive calls for listening to patients to understand their lived experiences and ensuring patients receive their desired care. Cultural humility training encourages providers to reflect on their own beliefs, values and biases—explicit and implicit—through introspection, thus revealing the impact of their own culture on patients.^{15, 16} Cultural humility trainings are more process-oriented and aim to enhance provider capability to deliver patient- centered care. Given that some autism-related disparities arise from barriers at the familial, cultural (e.g., cultural perceptions of autism), and structural levels,¹⁷ the utilization of culturally competent, culturally responsive, and culturally humble approaches are key in enhancing the ability of the workforce to provide optimal care, ideally leading to positive outcomes in the autism community.

Further, the effect of the COVID-19 pandemic on research communities is discussed in greater detail in Chapter 7 and the COVID-19 section of the Strategic Plan. However, the availability of telehealth and remote avenues for service provision and research participation could potentially reduce barriers to access for many underrepresented and underserved populations. Future research and additional evidence are needed to shed light on the potential benefits of the research adaptations enacted as a result of the pandemic.

Another key step in advancing inclusion and equity in research, services, and reducing disparities involves diversifying the researcher and provider workforce, in addition to recruiting diverse research participants. A concerted effort to diversify the workforce will help to reduce the various biases contributing to disparities, such as structural, personally mediated, and internalized racism that affects the health and well-being of autistic stakeholders.¹⁸ For example, although there is a shortage of pediatric specialists overall, a recent workforce survey showed that only 2% of developmental-behavioral or neurodevelopmental pediatricians are Black.¹⁹ The diversity of the research workforce also needs to be more inclusive of other aspects of diversity, including autistic researchers who are working in the autism field. In 2020, the International Society for Autism Research (INSAR launched its Autistic Researchers Committee to foster scientific career development for autistic autism researchers and add valuable autistic perspectives to research discussed within INSAR. Recruiting and effectively training a workforce that reflects the diverse populations served has been the target of recent mentorship and pipeline programs, although more investment is needed in this area.

On his first day in office, President Biden signed Executive Order 13985, Advancing Racial Equity and Support for Underserved Communities Through the Federal Government, encompassing efforts to improve opportunities and outcomes for communities of color, Tribal communities, rural communities, LGBTQIA+ communities, people with disabilities, women and girls, and communities impacted by persistent poverty. The Executive Order directed the federal government to advance an ambitious government-wide equity agenda that has resulted in equity activities across every federal agency. One example of an initiative that has targeted heath disparities is the Department of Health and Human Service’s Office of Minority Health’s National Culturally and Linguistically Appropriate Services (CLAS) Standards, a set of 15 action steps intended to advance health equity, improve quality, and help eliminate healthcare disparities by providing a blueprint for individuals and healthcare organizations to implement culturally and linguistically appropriate services. Another example is the Health Equity Framework, released by the National Council on Disability in 2022, which lays out a set of goals to create health equity for individuals with disabilities.

In addition to federal efforts on equity, many state agencies, private organizations, and academic institutions are also supporting research, services, and policy initiatives to address equity and disparities within the autism community. For example, Drexel University’s Policy Analytics Center and Life Course Outcomes Program published a National Autism Indicators Report in 2022, The Intersection of Autism, Health, Poverty, and Racial Inequity, that describes social determinants that influence health and well-being for individuals on the autism spectrum, and they propose that programs addressing these determinants are needed in order to close the gaps in health for intersectional populations. Overall, the ripple effects of many different federal, state, private, and academic equity-related initiatives, including those that address intersectionality across multiple underserved groups, will provide new opportunities to improve the health and well-being of individuals on the autism spectrum.

In addition to acting as research participants, the diverse perspectives from members of the autism community should serve to guide the research agenda and priorities moving forward, to ensure that the research aligns with the needs and desires of those with lived experience. The development of culturally relevant, feasible, and acceptable interventions and services involves direct feedback on challenges, perspectives, and preferences from community members.²⁰ Outreach efforts aimed at building trust within communities has been seen as the benchmark for building relationships for the purposes of informing research aims and increasing community knowledge on autism-specific information. For example, in Hispanic/Latino communities, promotores de salud (i.e., community health workers; promotores) are becoming critical participants in health promotion and delivery of healthcare.²¹ These workers are able to effectively complete outreach activities and aid in improving participation from underrepresented populations due to the inherent trust they are afforded as members of their own community. Actively listening to the needs of these communities will serve to directly address the disparities noted for these populations. The use of community liaisons and cultural brokers (i.e., people who build trust between different cultural communities) can help in these efforts to provide services and conduct research within diverse communities.

In summary, increasing diversity, equity, inclusion, and accessibility and addressing disparities remain an objective that informs numerous research projects and programs across the Strategic Plan Question areas. This Cross-Cutting Recommendation serves as a method to track the progress made to ensure that underrepresented and underserved populations receive appropriate education, services, and opportunities and benefit from research that encompasses and targets the needs of diverse communities. These efforts are essential to reduce disparities in health outcomes for autistic individuals. While additional information on specific areas of disparities is expanded upon in each Question of the Strategic Plan, this section and the Cross-Cutting Recommendation outlined here serve as an indicator of the urgency felt by the Committee to comprehensively address areas of disparities and promote equity in research and services moving forward.

Recommendation

Recommendation 2: Support diversity, equity, inclusion, and accessibility efforts in research, services, and policy that reduce disparities and increase equity for underrepresented, underserved, and intersectional populations within the autism community and enhance opportunities for autistic people.

Examples:

• Develop culturally competent, culturally responsive, and culturally humble research and service approaches aimed at building trust with historically underrepresented populations.
• Increase the diversity of the scientific and service research workforce, including autistic researchers and researchers from underrepresented groups.
• Include individuals and family members from underrepresented groups in the planning and conduct of autism research studies.
• Include racially, ethnically, and culturally diverse autistic individuals and family members, and individuals from other underserved communities, in autism service and policy development activities.
• Develop appropriate trainings and supports/services for providers and caregivers in underserved communities.
• Support research on disparities and underserved or intersectional populations within the autism community.