Do Biological Sex and Early Developmental Milestones Predict the Age of First Concerns and Eventual Diagnosis in Autism Spectrum Disorder?

Harrop, Clare; Libsack, Erin J.; Bernier, Raphael; Dapretto, Mirella; Jack, Allison; McPartland, James C.; Horn, John D. Van; Webb, Sara Jane; Pelphrey, Kevin A.

doi:10.1002/aur.2446

Cited by 28 publications

(23 citation statements)

References 57 publications

(109 reference statements)

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“…More research is needed to uncover potential biases and structural barriers that may limit the identification of sensory features in autistic girls and children from diverse backgrounds, as well as to improve access to services that may help mitigate potential long‐term challenges. The identified sex differences in sensory features should also be explored in the emerging research examining autism in girls, and the complex intersections of biological and sociocultural factors (e.g., Harrop et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

Sensory features in autism: Findings from a large population‐based surveillance system

et al. 2022

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Sensory features (i.e., atypical responses to sensory stimuli) are included in the current diagnostic criteria for autism spectrum disorder. Yet, large populationbased studies have not examined these features. This study aimed to determine the prevalence of sensory features among autistic children, and examine associations between sensory features, demographics, and co-occurring problems in other areas. Analysis for this study included a sample comprised of 25,627 four-or eight-year-old autistic children identified through the multistate Autism and Developmental Disabilities Monitoring Network (2006-2014). We calculated the prevalence of sensory features and applied multilevel logistic regression modeling. The majority (74%; 95% confidence interval: 73.5%-74.5%) of the children studied had documented sensory features. In a multivariable model, children who were male and those whose mothers had more years of education had higher odds of documented sensory features. Children from several racial and ethnic minority groups had lower odds of documented sensory features than White, non-Hispanic children. Cognitive problems were not significantly related to sensory features. Problems related to adaptive behavior, emotional states, aggression, attention, fear, motor development, eating, and sleeping were associated with higher odds of having documented sensory features. Results from a large, population-based sample indicate a high prevalence of sensory features in autistic children, as well as relationships between sensory features and co-occurring problems. This study also pointed to potential disparities in the identification of sensory features, which should be examined in future research. Disparities should also be considered clinically to avoid reduced access to supports for sensory features and related functional problems.Lay Summary: In a large, population-based sample of 25,627 autistic children, 74% had documented differences in how they respond to sensation. We also identified significant associations of sensory features with adaptive behavior and problems in other domains. Sensory features were less common among girls, children of color, and children of mothers with fewer years of education, suggesting potential disparities in identification.

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Section: Discussionmentioning

confidence: 99%

Sensory features in autism: Findings from a large population‐based surveillance system

et al. 2022

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“…For instance, due to societal norms, repetitive or stereotyped play patterns in girls may, on the surface, seem more appropriate than those in boys (focus on repetitive play with dolls vs. wheels on a truck; [Giarelli et al, 2010 ; Hiller et al, 2016 ]). This, in turn, may lead to differences in perception, identification, and scoring of RRBs in standardized assessments, and ultimately later age of diagnosis in females—a commonly observed occurrence (Harrop et al, 2021 ). Indeed, girls are less likely to meet diagnostic thresholds than boys, despite having equally high levels of autistic traits (Dworzynski et al, 2012 ; Kalb et al, 2022 ; Mo et al, 2021 ), and teachers report significantly fewer concerns about social skills in girls than boys (Hiller et al, 2014 ).…”

Section: Discussionmentioning

confidence: 99%

Exclusion of females in autism research: Empirical evidence for a “leaky” recruitment‐to‐research pipeline

D’Mello

Frosch

et al. 2022

Autism Research

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Autism spectrum disorder (ASD) is characterized by challenges in social communication and the presence of repetitive behaviors or restricted interests. Notably, males are four times as likely as females to be diagnosed with autism. Despite efforts to increase representation and characterization of autistic females, research studies consistently enroll small samples of females, or exclude females altogether. Importantly, researchers often rely on standardized measures to confirm diagnosis prior to enrollment in research studies. We retrospectively analyzed the effects of one such measure (Autism Diagnostic Observation Schedule, ADOS) on research inclusion/exclusion rates by sex in autistic adults, all of whom had a preexisting community diagnosis of autism (n = 145, 95 male, 50 female). Using the ADOS as a confirmatory diagnostic measure resulted in the exclusion of autistic females at a rate over 2.5 times higher than that of autistic males. We compared sex ratios in our sample to those in other large, publically available datasets that rely either on community diagnosis (6 datasets, total n = 42,209) or standardized assessments (2 datasets, total n = 214) to determine eligibility of participants for research. Reliance on community diagnosis rather than confirmatory diagnostic assessments resulted in significantly more equal sex ratios. These results provide evidence for a “leaky” recruitment‐to‐research pipeline for females in autism research. Lay Summary Despite efforts to increase the representation of autistic females in research, studies consistently enroll small samples of females or exclude females altogether. We find that despite making up almost 50% of the initially recruited sample based upon self‐report of community diagnosis, autistic females are disproportonately excluded from research participation as a result of commonly used autism diagnostic measures. In our sample, and several other publically available datasets, reliance on community diagnosis resulted in significantly more equal sex ratios.

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“…The comparison group was also devoid of diagnosis or behaviors suggestive of schizophrenia or any other learning, developmental, or psychiatric disorder. We previously report sex differences in developmental milestones and diagnostic variables in this sample of autistic youth (Harrop et al, 2021). All participants were required to score higher than 70 on the Differential Ability Scale composite measure of conceptual ability (an IQ proxy).…”

Section: Inclusion/exclusion Criteriamentioning

confidence: 99%

Linear discriminant analysis of phenotypic data for classifying autism spectrum disorder by diagnosis and sex

Jacokes

Jack²,

Sullivan³

et al. 2022

Front. Neurosci.

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Autism Spectrum Disorder (ASD) is a developmental condition characterized by social and communication differences. Recent research suggests ASD affects 1-in-44 children in the United States. ASD is diagnosed more commonly in males, though it is unclear whether this diagnostic disparity is a result of a biological predisposition or limitations in diagnostic tools, or both. One hypothesis centers on the ‘female protective effect,’ which is the theory that females are biologically more resistant to the autism phenotype than males. In this examination, phenotypic data were acquired and combined from four leading research institutions and subjected to multivariate linear discriminant analysis. A linear discriminant model was trained on the training set and then deployed on the test set to predict group membership. Multivariate analyses of variance were performed to confirm the significance of the overall analysis, and individual analyses of variance were performed to confirm the significance of each of the resulting linear discriminant axes. Two discriminant dimensions were identified between the groups: a dimension separating groups by the diagnosis of ASD (LD1: 87% of variance explained); and a dimension reflective of a diagnosis-by-sex interaction (LD2: 11% of variance explained). The strongest discriminant coefficients for the first discriminant axis divided the sample in domains with known differences between ASD and comparison groups, such as social difficulties and restricted repetitive behavior. The discriminant coefficients for the second discriminant axis reveal a more nuanced disparity between boys with ASD and girls with ASD, including executive functioning and high-order behavioral domains as the dominant discriminators. These results indicate that phenotypic differences between males and females with and without ASD are identifiable using parent report measures, which could be utilized to provide additional specificity to the diagnosis of ASD in female patients, potentially leading to more targeted clinical strategies and therapeutic interventions. The study helps to isolate a phenotypic basis for future empirical work on the female protective effect using neuroimaging, EEG, and genomic methodologies.

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Do Biological Sex and Early Developmental Milestones Predict the Age of First Concerns and Eventual Diagnosis in Autism Spectrum Disorder?

Cited by 28 publications

References 57 publications

Sensory features in autism: Findings from a large population‐based surveillance system

Sensory features in autism: Findings from a large population‐based surveillance system

Exclusion of females in autism research: Empirical evidence for a “leaky” recruitment‐to‐research pipeline

Linear discriminant analysis of phenotypic data for classifying autism spectrum disorder by diagnosis and sex

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