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Sex differences in the evaluation and diagnosis of autism spectrum disorders among children
Open accessAbstract
Background One of the most consistent features of the autism spectrum disorders (ASDs) is the predominance among males, with approximately four males to every female. We sought to examine sex differences among children who met case definition for ASD in a large, population-based cohort with respect to age at first developmental evaluation, age of diagnosis, influence of cognitive impairment on these outcomes, and sex-specific behavioral characteristics.Methods We conducted a secondary analysis of data collected for a population-based study of the prevalence of ASD. The sample comprised 2,568 children born in 1994 who met the case definition of ASD as established by the Autism and Developmental Disabilities Monitoring (ADDM) Network for ASD surveillance. Children who had a history of developmental disability and behavioral features consistent with the DSM-IV-TR criteria for autistic disorder, Asperger's disorder, and Pervasive Developmental Disorder-Not Otherwise Specified in existing evaluation records were classified as ASD cases via two paths: streamlined and nonstreamlined. Streamlined reviews were conducted if there was an ASD diagnosis documented in the records. Data were collected in 13 sites across the United States through the ADDM Network, funded by the Centers for Disease Control and Prevention.Results Males constituted 81% of the sample. There were no differences by sex in average age at first evaluation or average age of diagnosis among those with an existing documented chart diagnosis of an ASD. Girls were less likely than boys to have a documented diagnosis (odds ratio [OR] = 0.76, p = .004). This analysis was adjusted for cognitive impairment status. In the logistic model, with the interaction term for sex and cognitive impairment, girls with IQ of 70 or less were less likely than boys with IQ of 70 or less to have a documented diagnosis (OR = 0.70, 95% confidence interval [CI] = 0.50-0.97, p = .035). Boys with IQ greater than 70 were less likely than boys with IQ of 70 or less to have a documented diagnosis (OR = 0.60, 95% CI = 0.49-0.74, p < .001). This finding (less likely to have a documented diagnosis) was also true for girls with IQ greater than 70 (OR = 0.45, 95% CI = 0.32-0.66, p < .001). Girls were more likely to have notations of seizure-like behavior (p < .001). Boys were more likely to have notations of hyperactivity or a short attention span and aggressive behavior (p < .01).Conclusions Girls, especially those without cognitive impairment, may be formally identified at a later age than boys. This may delay referral for early intervention. Community education efforts should alert clinicians and parents to the potential of ASDs in boys and girls.
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“When comparing females and males with high ASD traits, it was found that males were more likely to have aggression and hyperactivity and/or attention deficits, and females were more likely to exhibit staring and seizure-like activities (Giarelli et al. 2010).”
From Barriers to Autism Spectrum Disorder Diagnosis for Young Women and Girls: a Systematic Review (2021) · cites this paper as Giarelli et al. 2010
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“For example, females -who often have a different clinical presentation of ASD than males -are commonly diagnosed later in life despite typically being assessed for developmental delays at the same age as boys.”
From Tackling healthcare access barriers for individuals with autism from diagnosis to adulthood (2022) · cites this paper as [55]
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“Four papers described comparisons between genders and presented conflicting findings (Duvekot et al. 2017; Dworzynski et al. 2012; Giarelli et al. 2010; Petrou et al. 2018).”
From Barriers to Autism Spectrum Disorder Diagnosis for Young Women and Girls: a Systematic Review (2021) · cites this paper as Giarelli et al. 2010
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“There are increasing concerns that autistic females are being missed, diagnosed later than males or misdiagnosed (Giarelli et al. 2010; Holtmann et al. 2007; Loomes et al. 2017; Shattuck et al. 2009).”
From Barriers to Autism Spectrum Disorder Diagnosis for Young Women and Girls: a Systematic Review (2021) · cites this paper as Giarelli et al. 2010
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“Girls with an IQ of 70 or less were less likely than boys with an IQ of 70 or less to have a documented ASD diagnosis.”
From Barriers to Autism Spectrum Disorder Diagnosis for Young Women and Girls: a Systematic Review (2021) · cites this paper as Giarelli et al. 2010
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“found that boys were more likely than girls to have a diagnosis of ASD even when both sexes had documented ASD symptoms in educational and clinical records.”
From Barriers to Autism Spectrum Disorder Diagnosis for Young Women and Girls: a Systematic Review (2021) · cites this paper as Giarelli et al. 2010
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“It has also been suggested that cognitive impairment increases the likelihood of having a documented ASD diagnosis for boys, but not for girls (Giarelli et al. 2010).”
From Barriers to Autism Spectrum Disorder Diagnosis for Young Women and Girls: a Systematic Review (2021) · cites this paper as Giarelli et al. 2010
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“Clinician bias was identified by six studies as a barrier to females obtaining an ASD diagnosis (Beteta 2008; Cridland et al. 2014; Giarelli et al. 2010; Mademtzi et al. 2018; Navot et al. 2017; Watson 2014).”
From Barriers to Autism Spectrum Disorder Diagnosis for Young Women and Girls: a Systematic Review (2021) · cites this paper as Giarelli et al. 2010
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“They concluded that this may result from an ‘interpreting bias’, where the observed experiences differ from the expected behaviours dependent on sex bias.”
From Barriers to Autism Spectrum Disorder Diagnosis for Young Women and Girls: a Systematic Review (2021) · cites this paper as Giarelli et al. 2010
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“They highlighted that clinicians evaluating girls, compared to boys, with a complex developmental profile may be more likely to exclude a classification of ASD if other conditions are present, due to this bias.”
From Barriers to Autism Spectrum Disorder Diagnosis for Young Women and Girls: a Systematic Review (2021) · cites this paper as Giarelli et al. 2010
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“recent research also suggests that females with ASD may be underidentified (see Frazier et al. 2014, Giarelli et al. 2010)”
From Recent Advances in Autism Research as Reflected in DSM-5 Criteria for Autism Spectrum Disorder (2015) · cites this paper as Giarelli et al. 2010
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“Autistic females typically receive their diagnosis later than males (Giarelli et al., 2010), and all our participants were late diagnosed, contributing to the lack of support they received.”
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“Specifically, boys are more likely to be diagnosed with autism than girls (Giarelli et al. 2010).”
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The Moderating Effect of Sex on Autistic Trait Emotional Intelligence, Alexithymia, and Empathy
Cargill, M. I., Lerner, M. D., & Kang, E. (2024) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-024-06540-x · Cited by 5
“Furthermore, greater nuance is needed in assessment tools and interpretive skills in order to account for these phenotypic sex differences in autism (Begeer et al., 2013; Giarelli et al., 2010 Kalb et al., 2022; Rynkiewicz et al., 2016).”
Sex-typical toy, activity, and playmate preferences in autistic and non-autistic children
To, J. C. S., & Kung, K. T. F. (2025) · Autism · doi:10.1177/13623613251321207 · Cited by 1
“…is less prevalent in girls than in boys (Loomes et al., 2017); (2) diagnosis of autism in girls tends to be delayed compared with that in boys (Giarelli et al., 2010); and (3) autistic girls are more likely to be classified as having intellectual disability than are autistic boys (Saure et…”
Rouquette, O. Y., DelPozo‐Baños, M., Lee, S. C., & John, A. M. (2025) · BJPsych Open · doi:10.1192/bjo.2025.10827 · Cited by 1
“23 This suggests that only the most severe cases were diagnosed among females, leading to an increased association of such cases with being in EOTAS provision, and with females in EOTAS provision having more severe and/or complex clinical needs requiring specific attention.”
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“While the prevalence of diagnosed cases is much higher in males than females (Giarelli et al., 2010), there seems to be a male bias in diagnosis criteria and assessment measures.”
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A computational intelligent analysis of autism spectrum disorder using machine learning techniques
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“Giarelli et al. [11] also agrees the same fact that it is predominant in male than in females with a percentage of 81% males contributing for the sample and the DSM-IV diagnosis were followed.”
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ResultOthman, N., Abdullah, U. N. N., Abdullah, N. B., Ganesan, G. K., & Samad, R. B. (2024) · International Conference on Gender Research · doi:10.34190/icgr.7.1.2286 · Cited by 1
“The discrepancy may reflect a broader societal tolerance for neurodivergent behaviours in men than women, where stereotypes and expectations of conforming to normative behaviours can be more stringent for women (Giarelli et al., 2010).”
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Thompson, C. C. (2014) · Cited by 1
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Caracterização de variantes De novo em exomas de indivíduos com Transtorno do Espectro Autista
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“This is particularly striking when one considers the 4:1 male predominance reported for autism spectrum disorders.(5) The critiques outlined above are minor, and this survey hopefully is the first of many to identify the gaps in healthcare services for a subset of the adult population that has for years gone largely u…”
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Examining the cross-cultural validity of three early autism screening instruments
McDonough, J. D. (2015)
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Beighley, J. S. (2016) · Louisiana State University · doi:10.31390/gradschool_dissertations.4294
“Another set of researchers further investigated gender differences in the ADDM study and concluded that females without ID were at higher risk for diagnostic delay (Giarelli et al., 2010).”
BackgroundInfluentialSaure, E. (2018)
Developmental Regression in Children with Autism Spectrum Disorder: Associated Factors and Outcomes
Estabillo, J. A. (2019) · Louisiana State University · doi:10.31390/gradschool_dissertations.5000
“…a well-established significant gender difference in ASD, such that the gender ratio is approximately 4 male:1 female (Constantino & Charman, 2012; Giarelli et al., 2010; Rinehart, Cornish, & Tonge, 2011; Zwaigenbaum et al., 2012), studies have not found a significant difference in the risk for…”
BackgroundGut Flora in Autistic Children as Biomarker for Autism in Thi-Qar Province/Iraq
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“%) with a prevalence ratio of 4:1 this result agree with many previous studies (Giarelli et al., 2010; Rose’meyer, 2013; Mezzelani et al., 2016), the cause for this difference is not well understood but several theories had been suggested.”
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Montrenes, J. J. (2021) · Louisiana State University · doi:10.31390/gradschool_theses.5336
“…toddlers with ASD or DD. Due to type of concern and age of diagnosis having both been shown to be influenced by child gender (Durkin et al., 2010; Giarelli et al., 2010; Little et al., 2017), lower age of concern having been shown to be associated with more severe symptoms (Chawarska et al.,…”
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Uzonyi, T. E., Crais, E. R., Watson, L. R., Nowell, S. W., & Baranek, G. T. (2024) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-024-06281-x
“This finding is especially critical given that girls are often diagnosed with autism later in age than boys (Begeer et al., 2013; Giarelli et al., 2010; Hiller et al., 2016).”
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“Autistic females are more often underdiagnosed [15], and present with more severe impairment than males to receive a diagnosis of autism [16].”
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Gene and environment interactions modulate immune system influences on social behavior
Zhang, Y. (2011) · Scholars Archive - University at Albany (University at Albany, State University of New York) · doi:10.54014/xmw1-8dfm
Impact of camouflaging on females with autism
Janicki-Menzie, C. (2021) · Scholars Archive - University at Albany (University at Albany, State University of New York) · doi:10.54014/h8g5-3ph0
Exposing Socialization and Systemic Exclusion Barriers in UK Universities
Dean, L. A. (2025) · IGI Global eBooks · doi:10.4018/979-8-3693-8920-1.ch006
Characterizing Autism Spectrum Disorder in the All of Us Research ProgramPreprint
Liu, D., Li, Y., Jiang, Z., Chung, P. J., Gehricke, J., Zhang, D., & Zhang, M. (2025) · medRxiv · doi:10.1101/2025.09.10.25335344
Autism in Adults in Romania: Challenges in Diagnosis and Screening
Dolfi, A., Faur, D., Scălcău, M.-R., Chișcu, A., & Tudose, C. (2025) · ALPHA PSYCHIATRY · doi:10.31083/ap39058
“ASD is even harder to diagnose in women, who are later diagnosed than males [4], not only due to the fact that autism is higher prevalent in males [5] but also because women develop different coping strategies and the expression of their symptoms is more subtle, resembling more with anxiety and…”
Sex Specific Behavioral Profiles in Toddlers At Risk for Autism Spectrum Disorders (ASD)
Ludwig, N. N. (2022) · Digital Archive @ GSU · doi:10.57709/4915681
Hayrapetyan, A., Khachikyan, N. Z., Aslanyan, A., Mkrtchyan, A., Qotanyan, A., Mkhitaryan, M., Sakanyan, G., Avetisyan, T., Mkrtchyan, S., Avetisyan, L., et al. (2025) · Children · doi:10.3390/children13010035
“Understanding these factors requires ongoing research and a nuanced approach to diagnosis and intervention across sexes [23,48].”
Burns, H. E., Taylor, R. D., & Jones, S. (2026) · Advances in Autism · doi:10.1108/aia-07-2025-0076
Gender Bias in Autism Research on Young Adults: A Scoping Review
Podesta, L. M., & Bosman, A. M. T. (2026) · Review Journal of Autism and Developmental Disorders · doi:10.1007/s40489-026-00546-0 · Cited by 1
Saitovitch, A. (2014) · theses.fr (ABES) · doi:10.70675/ddd5f246z0fe4z4134z8a28z27d0a24aed40
Chevauchement symptomatologique et reconnaissance des émotions : approche cross-syndromique
Benkessas, T. (2018) · theses.fr (ABES) · doi:10.70675/719aa288z2dd9z4a87z9005z724983485c82
Similitudes et différences entre le TDAH et le TSA, illustrées par l’étude du défaut d’inhibition
Septier, M. (2019) · theses.fr (ABES) · doi:10.70675/22fe83c2z678fz4b7ezac95z1af4554dfcbf
Altérations sexe-dépendantes de la nociception dans un modèle d’autisme induit par le valproate
Glaunec, L. R. (2023) · theses.fr (ABES) · doi:10.70675/3d445796ze7caz426ezaafaza54d2130e2a3
C.E.E.G. Framework: A Therapeutic Modality for Enhancing Outcomes in Autistic Adolescent Females
Beard, A. T. (2026) · Counselling and Psychotherapy Research · doi:10.1002/capr.70162
Barzilay, R., Katz, J. M., Sood, R., Moore, T. M., Calkins, M. E., Brodkin, E. S., Gur, R. C., & Gur, R. E. (2026) · Autism Research · doi:10.1002/aur.70270 · Cited by 1
“…concur with existing literature, which points to a greater rate of externalizing disorders in males (S. Baron-Cohen et al. 2005; Bölte et al. 2011; Giarelli et al. 2010; Hattier et al. 2011; Mandy et al. 2012; Merikangas et al. 2010) and greater internalizing disorders (including depression,…”
Ma, K., Webb, M., Newton, S. S., Lee, F. S., & Qin, L. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1864866
“ASD is caused by genetic mutations and/or exposure to environmental factors (Simons Foundation Autism Research Initiative, SFARI) (Satterstrom et al., 2020; Tammimies et al., 2015; Wang T. et al., 2016; De Rubeis et al., 2014; Iossifov et al., 2015; Faundes et al., 2018; Stessman et al., 2017; Karimi et al., 2017).”
InfluentialShulman, C., Bitton, D., & Nir, Z. (2026) · Autism Research · doi:10.1002/aur.70327
Breunig, S., Schäffer, L., Lawrence, J. M., Sheppard, A., & Grotzinger, A. D. (2026) · Behavior Genetics · doi:10.1007/s10519-026-10281-1
Clinical Profile of First-Time Diagnosis of Autism Spectrum Disorder in School-Aged Youth
Burkhart, K. M., Palumbo, A., Sanford, K., Olczyk, A., & Minich, N. M. (2026) · Children · doi:10.3390/children13091220
“While the proportion of females (about one-third) is consistent with prior research [30], larger female samples are needed to further clarify sex-based differences in phenotype.”
Keim, S. A., Rausch, J., Coury, D. L., Robinette, L. M., Taylor, P. L., Sun, L., McNally, K. A., & Rogers, L. K. (2026) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-026-07523-w
Özbaran, N. B., Şener, Z. İ., Sarı, S., & Şahin, G. K. (2026) · Frontiers in Child and Adolescent Psychiatry · doi:10.3389/frcha.2026.1910194
“In the literature, the issue of delayed diagnosis in ASD is more pronounced in adult women; however, in our study, no significant difference was found between the diagnosis ages of girls and boys (46).”
Metadata
- Authors
- Giarelli, E., Wiggins, L. D., Rice, C. E., Levy, S. E., Kirby, R. S., Pinto-Martin, J., & Mandell, D.
- Affiliations
- University of Pennsylvania (US)
- Centers for Disease Control and Prevention (US)
- Children's Hospital of Philadelphia (US)
- University of South Florida (US)
- Corresponding author
- Giarelli, Ellen
- Venue
- Disability and Health Journal
- Publisher
- Elsevier BV
- Published
- 2010-04
- Volume
- 3
- Issue
- 2
- Pages
- 107-116
- ISSN
- 1876-7583 (ISSN-L)
- 1936-6574
- PMC
- PMC4767258
- OpenAlex
- W2064689669
- Cited by
- 398
- References
- 38
- Citations by year
- 2026: 15 · 2025: 28 · 2024: 33 · 2023: 39 · 2022: 33 · 2021: 35 · 2020: 32 · 2019: 26 · 2018: 22 · 2017: 20 · 2016: 27 · 2015: 28 · 2014: 18 · 2013: 19 · 2012: 16
- FWCI
- 3.71
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Disability and health journal (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (R01MH077000, K01MH067628)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, sex differences, age at diagnosis, cognitive impairment, autistic girls, autism prevalence, Asperger syndrome, pervasive developmental disorders, seizure-like behavior
- MeSH terms
- Child, Child Development Disorders, Pervasive, Child Welfare, Child, Preschool, Cognition, Cognition Disorders, Female, Humans, Male, Population Surveillance, Risk Factors, Sex Factors, United States, Prevalence, Odds Ratio
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