Unmasking Autism: Role of Bio-psycho-social Perspective on Camouflaging Behavior and Gender Disparity in Autism Diagnosis

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent challenges in social communication and restricted, repetitive patterns of behavior. In the Indian context, the prevalence of ASD remains relatively low in community estimates, with diagnosis heavily reliant on the Indian Scale for Assessment of Autism (ISAA). However, diagnostic efficacy is complicated by the lack of universal screening tools and the significant role of cognition, which impacts the manifestation of symptoms. This discussion adopts a bio-psycho-social model to examine how cognitive, socio-cultural, and biological factors influence camouflaging behavior, a conscious or unconscious effort by individuals to mask natural characteristics to fit the social mold. While camouflaging facilitates social integration, it often leads to emotional exhaustion and delays diagnosis, particularly contributing to the significant gender disparity in ASD diagnoses, currently estimated at a 4:1 male-to-female ratio. The phenotype hypothesis suggests that this disparity is rooted in historical gender biases in nosological criteria and instrument construction, which have largely excluded female representations. Research indicates that higher cognitive abilities and cognitive flexibility enable females to successfully camouflage traits, whereas those with intellectual disabilities are diagnosed at rates similar to males. Furthermore, theoretical frameworks such as the “male brain theory” and the “female protective hypothesis,” which posit biological and genetic liabilities, are increasingly scrutinized for lacking specific genetic mechanisms and failing to account for epistemological flaws in sampling. Consequently, it is imperative to move beyond traditional, culturally biased assessments such as the theory of mind and investigate how cognitive factors specifically drive camouflaging behavior, thereby obscuring diagnosis, and perpetuating gender inequality in the ASD cohort.

Autism spectrum disorder (ASD) is defined as a neurodevelopmental disorder that consists of persistent challenges with social communication and interaction alongside restricted, repetitive patterns of behavior, interests, or sensory sensitivities. The symptoms must be considered at an early age to have represented a significant level of dysfunction. ¹ The prevalence of ASD in India is relatively low in the community. Only four studies from 2014 to 2017 met the criteria for a systematic review that attempted to examine the prevalence rate of ASD. ² Surprisingly, there is a lack of a diagnostic tool; no single screening tool can be applied universally for autism diagnosis, as they are modified according to local conditions and assessed for their efficacy. The Indian Scale for Assessment of Autism (ISAA) is a standardized tool designed in India for effectively diagnosing ASD. One of the studies included in the systematic review used the Indian scale to diagnose autism with a prevalence rate of 0.9/1000.^2,3 However, a study indicated that the ISAA had significant correlations with the total score of the Childhood Autism Rating Scale, except for the cognitive component domain. ⁴

Understanding the role of cognition is crucial since it impacts the process of diagnosis. In this discussion, we will also shed light on the role of the bio-psycho-social model, an eclectic approach to how the role of cognition, socio-cultural factors, and biology impacts the camouflaging behavior. The phenomenon of camouflaging behavior in ASD is often ignored, hence affecting diagnoses and treatment plans.

Camouflaging refers to the conscious or unconscious effort, especially from individuals with autism, to mask or change their natural characteristics to fit the social mold. This could be by inhibiting behaviors such as stimming, mimicking social cues, or even practicing conversations to mimic neurotypical behavior. Although camouflaging may help people get social integration, it leads to emotional exhaustion and delays diagnosis because it masks symptoms of autism. ⁵

Camouflaging behavior is a reasonable explanation for why male-to-female ASD diagnoses are 4:1.^6,7 Similar research confirms that females with autism are like neurotypicals, as they camouflage more than their male counterparts with autism. ⁸ However, there is no ratio gap when both males and females have autism with an intellectual disability (ID). The ratio is 1:1 when both genders have ASD with ID. ⁹ The ratio gap worsens for autistic males when there is a comorbidity of ID. For instance, the ratio is 10:1 in males with ASD and ID to females with ASD. ¹⁰ Similarly, Research findings leave us questioning the role of IQ, camouflaging behavior, and gender in the ASD cohort, which are part of the phenotype hypothesis in autism.

The phenotype hypothesis includes socio-cultural context, historical context, and environment. It suggests that gender differences in the manifestation of ASD and diagnosis have persisted since the beginning, also due to a lack of female representation in research and male biases in setting the diagnostic criteria. Gender bias in history has affected nosological criteria and tools or instrument construction, creating disability stereotypes and incorrect gender reconstruction. Hans Asperger misrepresented the sample based on gender in his 1994 article, where no girls were reported. ⁹ Likewise, in Leo Kanner’s study, three female cases were studied, out of 11, and no girls were in Asperger’s first four cases. ⁹ The low cases of girls with “Asperger’s” mean symptomatologic differences due to cognition, wherein male symptoms were indicated “atypical,” while girls’ symptoms were considered typical due to the subtle nature of behavioral symptoms, probably due to camouflaging behavior. Moreover, previous studies have encountered many confounds, such as cognitive ability. ¹¹ The neglect of girls in cases highlights how cognition has masked their ASD traits, affecting the epistemological samples, hence the diagnostic criteria.

Remarkably, recent researchers have included both females and males in their studies. It has been shown that intelligence reduces manifestations of behavioral traits through camouflaging, which is more successful in autistic females than in autistic males due to phenotypes such as cognitive flexibility.^5,12 Likewise, girls diagnosed later in life displayed subtle restrictive and repetitive behavioral symptoms of autism, resulting from better cognitive development, adaptive functions, social attention, and linguistic abilities than males with autism. ¹³ Additional research further supports claims that girls meet diagnostic criteria earlier in life when they have lower intellectual abilities. ¹² IQ affects camouflaging or masking behavior that prognosticates autism diagnosis; thus, females who are cognitively able with autism go undetected due to camouflaging behavior. ¹⁰ However, the research on gender differences due to cognition has heavily relied on a theory of mind, a traditional method for assessment, which is culturally biased and has unstandardized instructions.^7,14 Additionally, Cook and colleagues in their systematic review on “camouflaging in autism” highlighted the need for a representative sample for generalizability, alongside investigating cognitive abilities and processes associated with camouflaging using reliable and valid measures.

Throughout the literature, researchers have also raised questions surrounding the exact mechanisms that separate autistic females from autistic males, in terms of the behavioral manifestation of interests. Baron-Cohen, in his “male brain theory of autism,” postulated that the differences in the brain are due to exposure to hormones during birth. Girls have an empathizing brain, and boys have a systemizing brain, allowing them to have feminine and masculine choices, respectively supporting the protective hypothesis. ¹⁵ The female protective hypothesis focuses on how factors such as hormones, immunity, chromosomes, and gut microbiota protect females and cause high risks in males, demonstrating why cases of autism are higher in males than in females, thus revealing the gender disparity.^16-18

Many researchers and clinicians refer to ASD as a male disorder because autism is an X-linked disorder, many ASD cases identified were autosomal. ¹⁹ Researchers argue using the female protective hypothesis that autism is a male disorder, as females are better protected than males due to genetic and biological factors. While the female phenotype explains that even though females have higher protective factors than males, it does not eliminate the genetic load females carry, suggesting that females have higher genetic liability with a higher threshold than males. ¹⁰ The hypothesis is based on biological and genetic factors, assuming that females have more genetic load or probands with autism are more likely to display symptoms of ASD than males. ¹⁷

However, an extensive epistemological study showed no sign of the genetic load in females with autism. ⁹ Furthermore, recent research also highlights how the differences in risk factors and protective factors are invalid because no genetic studies have identified a specific genetic mechanism to indicate the difference between female resilience and male risk factors for ASD. ¹⁹ Data has been established on 70 genes that pose risk factors, yet no findings surround genes that cause autism. ¹⁹ Moreover, no genetic tests or biomarkers can locate ASD.^18,20

Despite the ongoing research on ASD camouflaging behavior for genders, its implications, and motivations are under-researched due to historical biases, the impact of cognitive abilities and IQ indicating higher cognitive abilities in females that allow them to camouflage, which is flawed due to the methods and standardization of tools to measure cognition, as well as a lack of representation in samples. Hence, it is imperative to explore how cognitive factors influence camouflaging behavior and contribute to the gender disparity in ASD diagnosis.