Autism Research: Inclusion or Erasure?
Examining the Biases and Barriers in Autism Studies and Their Impact on Neurodiversity
A recent study examinines how variations in sex chromosomes—termed “sex chromosome dosage”—may influence the “likelihood of autism,” adding to the ongoing dialogue about autism and gender diversity. Sex chromosome dosage refers to how having additional or fewer chromosomes, like an extra Y or only one X, might affect the expression of “autistic traits.” Yet, the language employed in this study, such as “autism risk” and the frequent use of odds ratios to measure “significance,” reveals a more significant issue within autism research: a framework that often implies autism as something to be avoided or minimised, framing it within a “risk” paradigm that can overshadow neurodiversity. Using odds ratios can amplify perceived “severity” and make findings seem more striking than they may actually be, inadvertently casting autism in a negative light.
This study holds unique relevance in conversations about gender diversity and autism, as it challenges long-standing assumptions that autism primarily affects males and acknowledges a broader spectrum of presentations. However, it’s important to understand this work within the context of autism research’s history. The field’s foundations in Western science come from Leo Kanner and Hans Asperger, who exclusively focused on boys in their studies. This wasn’t coincidental; it stemmed from the patriarchal idea that boys, as “more valuable,” deserved the bulk of attention, an approach that left a significant legacy of diagnostic bias that still affects our understanding of autism today. As a result, countless autistic girls and gender-diverse individuals have been overlooked or misdiagnosed.
In stark contrast, Dr. Grunya Sukhareva, a Soviet researcher and clinician whose work began more than a decade before Kanner and Asperger, included both boys and girls in her autism studies and clinical work. Sukhareva’s pioneering research recognised that autism manifests across gender boundaries, an approach largely absent in Western studies until very recently. The current study, therefore, takes a step toward addressing these historical gaps. Today’s article will explore their findings, assess the study’s implications for autism understanding and diagnostic practices, and provide a realistic perspective on when—if at all—these insights may shape meaningful change in clinical settings.
Overview of Berry et al.’s Study
Berry et al.’s study explores how variations in sex chromosomes ‘influence autism,’ challenging the long-standing “female protective effect” hypothesis, which posits that females require a higher ‘genetic load’ than males to display ‘autistic traits.’ This “protective effect” theory has, in reality, often harmed autistic girls and women, who are less likely to receive an autism diagnosis and instead frequently find themselves misdiagnosed with conditions such as Borderline Personality Disorder (BPD) or anxiety disorders. Berry et al. propose an alternative explanation: rather than a “protective effect,” it may be that having an extra Y chromosome significantly increases ‘autism likelihood’ compared to an extra X chromosome—a phenomenon they label the “extra Y effect.” Whilst this theory has the potential to expand understanding beyond the male-focused models of autism, the study still frames its findings within the concept of “risk,” suggesting that autism is a negative outcome to be avoided, rather than a natural variation in neurodevelopment.
The study draws on a substantial population sample from the SPARK and iPSYCH cohorts. SPARK, a U.S.-based cohort, is heavily funded by the Autism CARES Act and associated with the “cures” movement, which focuses on ‘early intervention’ and ‘prevention.’ Despite its massive funding, however, little from SPARK’s research benefits autistic adults today, who often need practical support rather than prevention-focused studies. The iPSYCH cohort, based in Denmark, complements SPARK’s data by adding a robust, population-based dataset that includes psychiatric diagnoses.
Berry et al.’s study uses a ‘genome-first approach,’ beginning with chromosomal and genetic information rather than the usual ‘behavioural traits,’ to explore these ‘dosage effects.’ By combining data from both SPARK and iPSYCH in a meta-analysis, the study strengthens its conclusions, particularly about the “extra Y effect.” This genome-first methodology, along with a large sample size, helps the study stand out in autism research. Yet, despite these efforts, the study ultimately adds to the field’s emphasis on genetics, with little immediate value for autistic individuals seeking support and understanding in their daily lives.
Key Insights and Affirmation of Gender Complexity in Autism
To be fair, the study adds an important layer of nuance to the understanding of autism and gender by moving beyond traditional binary assumptions and acknowledging the role of genetic diversity. The discovery that an “extra Y effect” significantly increases the ‘likelihood of autism’ challenges the dominant “female protective effect” narrative, which has historically framed autism as more prevalent in males and has contributed to the underdiagnosis of females. This study suggests that the sex chromosome composition, rather than a simplistic male-female divide, plays a critical role in ‘autism presentation,’ thus pushing the conversation toward a more complex, inclusive understanding of how autism can ‘manifest’ across different genders.
These findings have implications for recognising the diversity of ‘autism presentations’ across gender identities, potentially offering a foundation for better diagnostic practices that could benefit trans and gender-diverse individuals. By acknowledging that ‘chromosomal differences’ may impact ‘autism risk,’ the study indirectly supports the idea that gender and autism are interconnected in varied and non-binary ways. For trans and gender-diverse individuals, who often face barriers in accessing accurate autism assessments due to gendered biases in diagnostic criteria, this type of research could, in the long term, promote a more gender-inclusive framework in clinical settings.
However, despite these promising aspects, the study has notable limitations. Whilst it broadens the scope of how sex chromosomes may influence autism, it does not explicitly address the experiences of transgender, intersex, or non-binary individuals. This omission restricts the study’s inclusivity and its applicability to those whose gender identities do not align with traditional male or female categories. Without this inclusion, the findings risk reinforcing a focus on ‘chromosomal determinants’ that overlook the social and lived experiences of gender-diverse autistic people. For true progress, future research must bridge this gap and ensure that gender diversity is not only acknowledged but directly integrated into the study’s framework and outcomes if or when such studies are undertaken.
Potential Implications for Diagnostic Practices
The study’s findings could, in theory, inform updates to diagnostic frameworks such as the DSM, particularly in recognising autism in females and other underrepresented groups. The current diagnostic criteria in the DSM have been heavily shaped by early research that primarily involved male subjects, leading to a persistent bias in how autism is identified. Berry et al.’s study, with its focus on how sex chromosome variations like the “extra Y effect” influence ‘autism prevalence,’ opens a pathway for discussions on more nuanced, inclusive diagnostic criteria. The process for updating the DSM involves a rigorous review by panels of ‘experts,’ who rely on a substantial body of ‘consistent evidence’ to recommend changes. Whilst the study contributes insights, further research is needed to confirm these findings and establish broader patterns.
However, it’s important to note that just as future research could support these findings, it could also challenge or contradict them. The field of ‘autism research’ is replete with “established” studies that were conducted on a small scale and have never been replicated, highlighting the uncertainty that still permeates the field. Novel studies often generate excitement, but the true test lies in their reproducibility across different populations and research designs. Berry et al.’s study, although seemingly robust in its data collection through SPARK and iPSYCH, still represents an early step in what would need to be a larger, concerted effort to validate its conclusions across diverse cohorts.
If validated, these findings could eventually lead to changes in diagnostic practices. For instance, diagnostic models might move toward a framework that better recognises the subtle and varied presentations of autism in females, trans, intersex, and non-binary individuals. This is essential because current criteria often overlook how autism can manifest in ways that differ from the “male standard,” leading to delayed diagnoses or misdiagnoses in those who do not fit that model. Expanding diagnostic criteria to reflect a more complex understanding of gender and chromosomal diversity could help address these disparities.
Yet, even with compelling evidence, shifting institutional inertia is notoriously difficult. The Autism CARES Act, which heavily influences funding and research priorities in the US, often directs resources toward ‘early intervention’ and genetic studies rather than comprehensive, adult-focused research or efforts to reform diagnostic criteria. Without targeted advocacy and research that bridges genetic findings with practical, clinical applications, it may be challenging for Berry et al.’s insights to shift entrenched diagnostic frameworks. The challenge lies in ensuring that findings like these are not just acknowledged but also translated into practices that foster inclusivity and equity in autism diagnosis.
Barriers to Real-World Impact and Timeline for Change
For the study’s findings to make a tangible impact on clinical practice, several key stages must be navigated. First, further research is essential to validate the study’s conclusions across diverse populations. Confirmatory studies would need to replicate the so-called “extra Y effect” and other ‘sex chromosome dosage’ findings to build a consistent body of evidence. If corroborated, these insights could inform the ‘expert panels’ that review and revise diagnostic frameworks like the DSM. The DSM, updated only after substantial ‘expert consensus,’ relies on well-established research, making any changes a slow, multi-year process. Beyond revisions to diagnostic texts, the findings would need to translate into training materials for clinicians, which includes updating medical and psychological education and professional development to reflect new criteria (but these professionals get to pick and choose what they take in terms of classes, so there’s no guarantee that they get new or updated info).
A realistic timeline for such change is long. Even in the best-case scenario where follow-up studies rapidly confirm Berry et al.’s results, the process of integrating these insights into the DSM, updating clinician training, and shifting clinical practice would likely take at least a decade. This timeline could extend even further if funding and research priorities remain unchanged. Shifts in public policy and research often depend on significant advocacy, shifts in societal attitudes, or new funding sources prioritising inclusive approaches over the status quo.
One of the greatest barriers to real-world impact is the reliance on confirmatory studies, which can take years to conduct and publish. Additionally, the pace of policy change is notoriously slow, often constrained by bureaucracy and the entrenched perspectives of clinical settings that have long been shaped by outdated models. This inertia is reinforced by where funding is directed—often to early interventions, genetic studies, and cure-focused research. The Autism CARES Act, which channels vast resources into ‘autism research,’ typically aligns with these priorities, leaving minimal room for studies that might reframe autism diagnosis in ways that promote support and inclusion over cure narratives.
At the heart of these challenges lies an uncomfortable reality: the existing paradigm, underpinned by deeply rooted eugenic beliefs, resists seeing autistic individuals as valuable members of society. This view is embedded in the ruling class’s fabric, subtly perpetuating the notion that autism should be minimised, controlled, or “cured” rather than supported and fully included. The U.S. is not alone in this; China’s body of ‘autism research,’ which is heavily cited in global discourse and contributes to panels influencing changes like those in the DSM, reflects a deep stigma. The emphasis in Chinese studies on “cures” over therapies further entrenches the idea that eradicating autism is preferable to understanding or supporting it.
These combined factors mean that even if Berry et al.’s findings open the door to a more nuanced understanding of autism and gender, changing the course of research and policy to prioritise true inclusion and support is fraught with obstacles. Without significant, targeted advocacy and a paradigm shift away from eugenics-rooted views, the hope of moving the conversation from “cures” to holistic support and inclusion remains distant.
Reflections on Neurodiversity and Inclusive Research
Reflecting on the importance of adopting a neurodiversity-affirming language and framework in future studies is critical to changing the course of how autistic individuals are perceived in research. The language often used in ‘autism research’—including terms like “risk,” “burden,” or “protective effects”—paints autism in a pathologising light that reinforces the notion of it being an undesirable trait to be controlled or eliminated. Phrasings like these, whilst uncomfortable and harmful, are currently necessary to use because they reflect the prevailing attitudes in the research community, which often treat autistic individuals less as people with valuable lived experiences and more as a problem to solve or a condition to manage. The reality is that much of the language and focus in ‘autism research’ comes across as if researchers are observing a colony of fire ants—intent on finding ways to mitigate or eliminate their presence. This research is not aimed at understanding autism as a valid and diverse neurotype but as an anomaly to be corrected or removed.
For future research to be genuinely inclusive, it must move beyond this eugenics-rooted perspective and incorporate neurodiversity-affirming frameworks. Such a shift would require using language that validates and acknowledges autism as a part of human variation rather than a defect. Research must also embrace the complexity of gender diversity, especially for trans, intersex, and non-binary autistic individuals. The path forward is clear: studies should directly include and consider gender-diverse perspectives in their methodologies, data collection, and analyses. However, this shift does not align with the goals of those influenced by eugenicist ideologies, whose priorities are rooted in eradication and control rather than inclusion and support.
Compounding this issue are the influential voices of so-called “autism moms”—typically non-autistic parents of autistic children—who dominate public discourse and shape the research agenda in the United States. These figures often hold significant sway in shaping policy, funding, and research directions. Many of these “autism moms” are openly hostile to the idea of gender diversity, expressing transphobic views on forums and social media. Their vocal presence reinforces exclusionary perspectives, steering funding and attention away from studies that would benefit autistic adults, gender-diverse individuals, or initiatives that promote neurodiversity-affirming approaches. The origin story of the Autism CARES Act, which was heavily influenced by these parental advocacy groups, exemplifies how research agendas are often driven by people who see autism not as an identity to be supported but as ‘a problem to be solved.’
For future research to truly support autistic people, it must reject this legacy and intentionally build inclusivity into its framework. That means centring autistic voices, particularly those of trans and non-binary individuals, and shifting the language and goals of studies from pathologising to affirming. The research landscape needs a fundamental change that recognises autism as an inherent part of human diversity and values autistic individuals not as subjects to “fix” but as members of society who deserve respect, understanding, and support.
Final thoughts …
To wrap up today’s article, despite the incremental shifts seen in studies like Berry et al.’s, the broader research landscape remains resistant to fully embracing a neurodiversity-affirming view of autism. Institutional Review Boards (IRBs) and research directors often hold the most entrenched, problematic perspectives, which influence the type of research that gets approved or funded. Promising studies that focus on support, quality of life, or neurodiversity are frequently rejected or sidelined because they do not align with the prevailing agenda focused on control, treatment, or prevention (I self-financed mine when I could not get funding to conduct research on what might make the college experience better for autistic undergrads). This agenda aligns with deep-seated eugenic views, where autism is not seen as a legitimate neurotype but as something to be mitigated or eliminated.
Compounding this problem is the environment within academic institutions. Research and dissertation chairs, along with university style guides, uphold a medicalised view of autism, editing work to conform to person-first language that underscores their perspective. According to these gatekeepers, a “person with autism” is distinct from an autistic person because it perpetuates the hope for a day when no autistic people exist. This language implies that autism is an accessory to the person—something that can, ideally, be removed. Such frameworks bolster the pursuit of “treatments” that might strip away ‘autistic traits’ and support the ultimate goal of “cures” that would prevent future autistic individuals from being born.
This landscape leaves little room for identity-first language or research that respects and affirms autistic individuals as whole and valid. The implication is clear: in their view, if there is no place for the autistic neurotype in the world, there is no need to consider autism as part of human diversity. For true progress, research must radically shift to include and affirm autistic perspectives, value neurodiversity, and reject the underlying currents of eugenics that still influence autism discourse.