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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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Citations
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What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis
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“Even when females with ASC are identified, they receive their diagnosis (and associated support) later than equivalent males (Giarelli et al. 2010).”
BackgroundMandy, W., Chilvers, R., Chowdhury, U., Salter, G., Seigal, A., & Skuse, D. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1356-0 · Cited by 715
“Females with high-functioning ASD tend to be clinically identified later than their male counterparts (Giarelli et al. 2010).”
BackgroundQuantifying and exploring camouflaging in men and women with autism
Lai, M.-C., Lombardo, M. V., Ruigrok, A. N., Chakrabarti, B., Auyeung, B., Szatmari, P., Happé, F., Baron-Cohen, S., & MRC AIMS Consortium (2017) · Autism · doi:10.1177/1362361316671012 · Cited by 705
“Population-based data show that females are often diagnosed at later ages (Begeer et al., 2013; Giarelli et al., 2010; Rutherford et al., 2016; Shattuck et al., 2009) and less easily than males with autism (Russell et al., 2011; Wilson et al., 2016), unless there are concurrent behavioural or…”
Disentangling the heterogeneity of autism spectrum disorder through genetic findings
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“56 These findings beg the question of whether gender dif ferences in the ASD phenotype are driven by differences in biological mechanisms, or by diagnostic biases that result from the patient’s disease profile at presentation.”
Van Wijngaarden-Cremers, P. J. M., van Eeten, E., Groen, W. B., Van Deurzen, P. A., Oosterling, I. J., & Van der Gaag, R. J. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-013-1913-9 · Cited by 547
“Several studies have shown that girls with milder symptoms and a normal IQ tend to be diagnosed at a later age than boys (Kopp and Gillberg 1992; Goin-Kochel et al. 2006; Siklos and Kerns 2007; Begeer et al. 2013; Russell et al. 2011; Giarelli et al. 2010) or are misdiagnosed (Kopp and Gillberg 1992; Nilsson et al.”
BackgroundDevelopment and validation of the camouflaging autistic traits questionnaire (CAT-Q)
Hull, L., Mandy, W., Lai, M.-C., Baron-Cohen, S., Allison, C., Smith, P., & Petrides, K. V. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-018-3792-6 · Cited by 496
“Autistic females’ camouflaging may even account for the later and less frequent diagnoses of females than males with the same autistic characteristics (Begeer et al. 2013; Giarelli et al. 2010; Rutherford et al. 2016).”
BackgroundBegeer, S., Mandell, D., Wijnker-Holmes, B., Venderbosch, S., Rem, D., Stekelenburg, F., & Koot, H. M. (2013) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1656-z · Cited by 402
“Indeed, in toddlers with ASD and varying cognitive abilities, girls showed a lower age of first concern than boys (Horovitz et al. 2012), while an average or above average IQ decreased the likelihood of an ASD diagnosis in girls more than in boys (Giarelli et al. 2010).”
BackgroundSelf-citationSex differences in autism spectrum disorder: a review
Ferri, S. L., Abel, T., & Brodkin, E. S. (2018) · Current Psychiatry Reports · doi:10.1007/s11920-018-0874-2 · Cited by 392
A Review of the Role of Female Gender in Autism Spectrum Disorders
Kirkovski, M., Enticott, P. G., & Fitzgerald, P. B. (2013) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-013-1811-1 · Cited by 454
“It has further been suggested that, even when symptom severity is comparable between males and females, the latter are less likely to receive a formal diagnosis (Giarelli et al. 2010; Russell et al. 2011).”
BackgroundASD in Females: Are We Overstating the Gender Difference in Diagnosis?
Kreiser, N. L., & White, S. W. (2014) · Clinical Child and Family Psychology Review · doi:10.1007/s10567-013-0148-9 · Cited by 367
Barriers to Autism Spectrum Disorder Diagnosis for Young Women and Girls: a Systematic Review
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What about the girls? Sex-based differences in autistic traits and adaptive skills
Ratto, A. B., Kenworthy, L., Yerys, B. E., Bascom, J., Wieckowski, A. T., White, S. W., Wallace, G. L., Pugliese, C., Schultz, R. T., Ollendick, T. H., et al. (2018) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-017-3413-9 · Cited by 342
“, age 6–17) is of critical importance in understanding sex differences among those without co-occurring ID, as many of these individuals, particularly females, are first diagnosed with ASD during this time (Daniels and Mandell 2014; Giarelli et al. 2010).”
BackgroundMethodTackling healthcare access barriers for individuals with autism from diagnosis to adulthood
Malik-Soni, N., Shaker, A., Luck, H., Mullin, A. E., Wiley, R. E., Lewis, M. E. S., Fuentes, J., & Frazier, T. W. (2022) · Pediatric Research · doi:10.1038/s41390-021-01465-y · Cited by 309
Sedgewick, F., Hill, V., Yates, R., Pickering, L., & Pellicano, E. (2015) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-015-2669-1 · Cited by 304
“…Kreiser and White 2014; Kopp and Gillberg 2011; Lai et al. 2015)—with many girls potentially beingmisdiagnosed ormissing out on a diagnosis until later (Begeer et al. 2012; Giarelli et al. 2010) or even altogether (Dworzynski et al. 2012; see also Gould and Ashton-Smith 2011; Mandy et al. 2011).”
BackgroundAutism Spectrum Disorders in the Stockholm Youth Cohort: Design, Prevalence and Validity
Idring, S., Rai, D., Dal, H., Dalman, C., Sturm, H., Zander, E., Lee, B. K., Serlachius, E., & Magnusson, C. (2012) · PLoS ONE · doi:10.1371/journal.pone.0041280 · Cited by 275
“Although the underlying mechanisms for the skewed sex ratio in ASD are still unknown [36], a relative under-ascertainment, and/or delayed diagnosis, of ASD in females may contribute [36,37].”
BackgroundA qualitative exploration of the female experience of autism spectrum disorder (ASD)
Milner, V., McIntosh, H., Colvert, E., & Happé, F. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-03906-4 · Cited by 262
Factors influencing the probability of a diagnosis of autism spectrum disorder in girls versus boys
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“Email: jorieke.duvekot@erasmusmc.nl than boys (Begeer et al., 2013; Giarelli et al., 2010), suggesting that some girls with ASD are missed at an early age using current diagnostic practices.”
MethodSex Differences in Autism Spectrum Disorder: Diagnostic, Neurobiological, and Behavioral Features
Napolitano, A., Schiavi, S., Rosa, P. L., Rossi‐Espagnet, M. C., Petrillo, S., Bottino, F., Tagliente, E., Longo, D., Lupi, E., Casula, L., et al. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2022.889636 · Cited by 286
“The clinical presentation of ASD symptoms can be dissimilar in males and females individuals (10, 14, 18, 19).”
BackgroundBeck, J. S., Lundwall, R. A., Gabrielsen, T., Cox, J. C., & South, M. (2020) · Autism · doi:10.1177/1362361320912147 · Cited by 224
“For some women, social challenges may outstrip camouflaging abilities only later in life (Giarelli et al., 2010).”
BackgroundRecent Advances in Autism Research as Reflected in DSM-5 Criteria for Autism Spectrum Disorder
Lord, C., & Bishop, S. L. (2015) · Annual Review of Clinical Psychology · doi:10.1146/annurev-clinpsy-032814-112745 · Cited by 224
“However, recent research also suggests that females with ASD may be underidentified (see Frazier et al. 2014, Giarelli et al. 2010), and there are continued disparities in the number of children identified with ASD across race, ethnicity, states, and even neighborhoods within cities, with children…”
BackgroundSex/Gender Differences in Camouflaging in Children and Adolescents with Autism
Wood‐Downie, H., Wong, B., Kovshoff, H., Mandy, W., Hull, L., & Hadwin, J. A. (2020) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04615-z · Cited by 236
Missed diagnoses and misdiagnoses of adults with autism spectrum disorder
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“Also, females are frequently diagnosed later than their male peers [11].”
BackgroundGender differences in autism spectrum disorders: Divergence among specific core symptoms
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“…assessment and diagnosis of ASD in girls is an important issue as it not only contributes to the delay in the initiation of specific therapeutic strategies [Giarelli et al., 2010], but also to the difficulty in identifying specific segregation patterns in multiplex families [Sato et al., 2012].”
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“Delays in diagnosis are common regardless of gender; however, girls with ASD are particularly disadvantaged through underrecognition, misdiagnosis or delayed diagnosis (Giarelli et al., 2010; Shattuck et al., 2009).”
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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]).”
BackgroundEtiologies underlying sex differences in autism spectrum disorders
Schaafsma, S. M., & Pfaff, D. W. (2014) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2014.03.006 · Cited by 178
“…underly (2014), http://dx.doi.org/10.1016/j.yfrne.2014.03.006 girls who met the case definition of ASD as established by the Autism and Developmental Disabilities Monitoring (ADDM) Network for ASD surveillance were less likely to have a formal ASD diagnosis than boys (Giarelli et al., 2010).”
InfluentialZwaigenbaum, L., Bryson, S. E., Szatmari, P., Brian, J., Smith, I. M., Roberts, W., Vaillancourt, T., & Roncadin, C. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1515-y · Cited by 178
“…Developmental Disabilities Monitoring Network from 13 sites in the US found that girls with ASD were less likely to have received a community diagnosis than boys with ASD, despite meeting diagnostic criteria on independent educational and developmental service file review (Giarelli et al. 2010).”
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Understanding autism in the light of sex/gender
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“Females with autism tend to be identified later than males [38-40], and diag-”
BackgroundSantos, S., Ferreira, H., Martins, J., Gonçalves, J., & Castelo-Branco, M. S. (2022) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2022.104577 · Cited by 148
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“When they are identified, this tends to be later than for males [54] and they require more severe symptomatology than males to be meet ASD diagnostic criteria [55].”
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“Several studies highlighted the more complex presentation of ASD in women [22] and the greater likelihood of females hiding their autistic symptoms, leading to camouflage among a neurotypical population [23] and hindering the diagnostic process [20,24].”
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Genetic and non-genetic animal models for autism spectrum disorders (ASD)
Ergaz, Z., Weinstein‐Fudim, L., & Ornoy, A. (2016) · Reproductive Toxicology · doi:10.1016/j.reprotox.2016.04.024 · Cited by 121
“differences in the timing of symptom manifestation between males and females, as observed in human studies [138].”
BackgroundResultKaat, A. J., Shui, A. M., Ghods, S. S., Farmer, C. A., Esler, A. N., Thurm, A., Georgiades, S., Kanne, S. M., Lord, C., Kim, Y. S., et al. (2021) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.13242 · Cited by 116
“For example, if at least a portion of girls with higher cognitive and language abilities are at risk of not being identified until later in life (Begeer et al., 2013; Giarelli et al., 2010; Howe et al., 2015), then they would not be represented in samples recruited during early childhood.”
BackgroundEpidemiology of Autism Spectrum Disorders
Duchan, E., & Patel, D. R. (2012) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2011.10.003 · Cited by 126
Camouflage and masking behavior in adult autism
Alaghband‐Rad, J., Hajikarim‐Hamedani, A., & Motamed, M. (2023) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2023.1108110 · Cited by 148
The development of autistic social traits across childhood and adolescence in males and females
Mandy, W., Pellicano, L., St Pourcain, B., Skuse, D., & Heron, J. (2018) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12913 · Cited by 117
“First, they likely help explain the fact that autistic females receive their diagnosis later on average than autistic males, and are more likely to reach adulthood without appropriate understanding and support (Bargiela et al., 2016; Giarelli et al., 2010).”
Backgroundrs-fMRI and machine learning for ASD diagnosis: a systematic review and meta-analysis
Santana, C. P., Carvalho, E., Rodrigues, I. D., Bastos, G. S., de Souza, A. D., & de Brito, L. L. (2022) · Scientific Reports · doi:10.1038/s41598-022-09821-6 · Cited by 137
In utero exposure to selective serotonin reuptake inhibitors and risk for autism spectrum disorder
Gidaya, N. B., Lee, B. K., Burstyn, I., Yudell, M., Mortensen, E. L., & Newschaffer, C. J. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2128-4 · Cited by 115
Polycystic ovary syndrome and autism: A test of the prenatal sex steroid theory
Cherskov, A., Pohl, A. L., Allison, C. L., Zhang, H., Payne, R., & Baron‐Cohen, S. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0186-7 · Cited by 118
Opinion: Sex, gender and the diagnosis of autism—A biosocial view of the male preponderance
Goldman, S. (2013) · Research in Autism Spectrum Disorders · doi:10.1016/j.rasd.2013.02.006 · Cited by 108
“These gendered perceptions of symptoms may contribute to the diagnostic bias toward increased identification of social psychopathology in boys (Giarelli et al., 2010; Lai et al., 2011; Worley.”
Werling, D. M., & Geschwind, D. H. (2015) · Molecular Autism · doi:10.1186/s13229-015-0004-5 · Cited by 116
“With regard to the reports from other samples on sex ratios in high- and low-functioning individuals, it has been suggested that current diagnostic tools are calibrated to a male-typical phenotype and that females are under-diagnosed for ASD due to their nonprototypical presentation of ASD symptoms [54,55].”
BackgroundRDoC-based categorization of amygdala functions and its implications in autism
Hennessey, T., Andari, E., & Rainnie, D. G. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.04.007 · Cited by 107
Zablotsky, B., Colpe, L. J., Pringle, B. A., Kogan, M. D., Rice, C. E., & Blumberg, S. J. (2017) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-122.1.49 · Cited by 113
“Several demographic characteristics have been associated with later age of diagnosis; being female or a racial/ethnic minority, living in rural areas, having lower household income, and having multiple primary care physicians (Durkin et al. 2010; Giarelli et al., 2010).”
BackgroundSelf-citationOlivito, G., Clausi, S., Laghi, F., Tedesco, A. M., Baiocco, R., Mastropasqua, C., Molinari, M., Cercignani, M., Bozzali, M., & Leggio, M. G. (2016) · The Cerebellum · doi:10.1007/s12311-016-0795-8 · Cited by 109
“Furthermore, it should be considered that diagnosis is later in females than in males [93, 94].”
BackgroundQin, X., Feng, J., Cao, C. Q., Wu, H., Loh, Y. P., & Cheng, Y. (2016) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2016.1626 · Cited by 103
Andersson, G. W., Gillberg, C., & Miniscalco, C. (2013) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2012.08.025 · Cited by 102
Retico, A., Giuliano, A., Tancredi, R., Cosenza, A., Apicella, F., Narzisi, A., Biagi, L., Tosetti, M., Muratori, F., & Calderoni, S. (2016) · Molecular Autism · doi:10.1186/s13229-015-0067-3 · Cited by 107
“First of all, a difficulty in identifying females with ASD is reported; these patients are diagnosed later in life than males, especially if coexistent intellectual or behavioural problems are present [15, 16].”
BackgroundSmith-Young, J., Chafe, R., & Audas, R. (2020) · Health Services Insights · doi:10.1177/1178632920902141 · Cited by 113
Cox, K. H., & Rissman, E. F. (2011) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2011.00688.x · Cited by 97
“It is important to note that there are sex differences in ASD: this disorder is about four times more common in males than females (Auyeung et al. 2010; Giarelli et al. 2010), and it is not known what the cause of this dimorphism is.”
BackgroundGender Bias, Female Resilience, and the Sex Ratio in Autism
Constantino, J. N., & Charman, T. (2012) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2012.05.017 · Cited by 92
Reinhardt, V. P., Wetherby, A. M., Schatschneider, C., & Lord, C. (2015) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2223-6 · Cited by 89
“with ASD frequently diagnosed later in females (Kopp and Gillberg 1992; Giarelli et al. 2010).”
InfluentialSex Differences in Autism Spectrum Disorder: Focus on High Functioning Children and Adolescents
de Giambattista, C., Ventura, P., Trerotoli, P., Margari, F., & Margari, L. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.539835 · Cited by 107
“This finding fits with previous literature (7, 25, 67, 101, 102), also showing how females who received an early diagnosis of ASD often have intellectual impairment.”
Result(2020) · doi:10.1145/3386296.3386301 · Cited by 107
Sex differences in cortical volume and gyrification in autism
Schaer, M., Kochalka, J., Padmanabhan, A., Supekar, K., & Menon, V. (2015) · Molecular Autism · doi:10.1186/s13229-015-0035-y · Cited by 90
“For instance, girls with higher IQ tend to be diagnosed later than males, as their superior language skills during their first years of life might mask autistic symptoms [77, 78, 74].”
BackgroundDefault Mode Hypoconnectivity Underlies a Sex-Related Autism Spectrum
Ypma, R. J. F., Moseley, R. L., Holt, R., Rughooputh, N., Floris, D. L., Chura, L. R., Spencer, M. D., Baron‐Cohen, S., Suckling, J., Bullmore, E. T., et al. (2016) · Biological Psychiatry Cognitive Neuroscience and Neuroimaging · doi:10.1016/j.bpsc.2016.04.006 · Cited by 88
Evans, S. C., Boan, A. D., Bradley, C. C., & Carpenter, L. A. (2018) · Journal of Clinical Child & Adolescent Psychology · doi:10.1080/15374416.2018.1437734 · Cited by 94
“Compared to boys, girls with ASD more often go undiagnosed or are diagnosed at a later age, particularly girls with less severe ASD symptoms and more intact language and cognitive skills (Begeer et al., 2013; Giarelli et al., 2010; Rutherford et al., 2016).”
BackgroundWallis, K. E., Guthrie, W., Bennett, A. E., Gerdes, M., Levy, S. E., Mandell, D. S., & Miller, J. S. (2020) · PLoS ONE · doi:10.1371/journal.pone.0232335 · Cited by 89
“phenotype by gender suggest that girls may be under-identified and that girls with average to above-average intelligence may be under-represented among children diagnosed with ASD [16, 18].”
BackgroundSelf-citationKnutsen, J., Crossman, M. K., Perrin, J. M., Shui, A. M., & Kuhlthau, K. A. (2018) · Autism · doi:10.1177/1362361318786490 · Cited by 83
“…estimates (Jensen et al., 2014; Kim et al., 2011; Lai et al., 2012; Loomes et al., 2017), in part given (1) the likely underreporting of female cases (Giarelli et al., 2010; Russell et al., 2011) and (2) females continue to be underrepresented in research compared to males (Mandy et al., 2012).”
BackgroundRanson, N. J., & Byrne, M. K. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2139-1 · Cited by 89
“This proposition is supported by recent research indicating that age at diagnosis of ASD in girls who are at the higher functioning end of the autism spectrum (HFA) occurs at a significantly later age than boys (Begeer et al. 2012; Giarelli et al. 2010; Shattuck et al. 2009).”
Ferencová, N., Višňovcová, Z., Ondrejka, I., Hrtánek, I., Bujnakova, I., Kovacova, V., Macejova, A., & Tonhajzerová, I. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241411710 · Cited by 72
Siller, M., Reyes, N., Hotez, E., Hutman, T., & Sigman, M. (2013) · Autism · doi:10.1177/1362361313476766 · Cited by 72
“identification and diagnosis of ASD (Giarelli et al., 2010).”
Vitamin D in the general population of young adults with autism in the faroe islands
Kočovská, E., Andorsdóttir, G., Weihe, P., Halling, J., Fernell, E., Stóra, T., Biskupstø, R., Gillberg, I. C., Shea, R., Billstedt, E., et al. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2155-1 · Cited by 64
Exploratory Study of Childbearing Experiences of Women with Asperger Syndrome
Gardner, M. R., Suplee, P. D., Bloch, J. R., & Lecks, K. (2016) · Nursing for Women s Health · doi:10.1016/j.nwh.2015.12.001 · Cited by 72
“The reasons for such increases are not completely understood but likely include increased awareness of and improved diagnostic approaches to these conditions, in addition to other as yet undetermined factors (Centers for Disease Control & Prevention, 2012; Giarelli et al., 2010).”
BackgroundConsidering the Autistic advantage in qualitative research: the strengths of Autistic researchers
Grant, A., & Kara, H. (2021) · Contemporary Social Science · doi:10.1080/21582041.2021.1998589 · Cited by 91
“This has applied particularly to girls, women and non-binary people because diagnostic criteria have been skewed in favour of boys and men (Giarelli et al., 2010).”
BackgroundSensory and Motor Characterization in the Postnatal Valproate Rat Model of Autism
Reynolds, S., Millette, A., & Devine, D. P. (2012) · Developmental Neuroscience · doi:10.1159/000336646 · Cited by 69
“Human studies have shown that girls are often identified as autistic at a later age than boys [68] and this may suggest differences in the timing of symptom manifestation.”
BackgroundThe clinician perspective on sex differences in autism spectrum disorders
Jamison, R., Bishop, S. L., Huerta, M., & Halladay, A. K. (2017) · Autism · doi:10.1177/1362361316681481 · Cited by 71
“than males to be under-identified or diagnosed later (Begeer et al., 2013; Giarelli et al., 2010; Wilson et al., 2016) may be, in part, due to reduced sensitivity of currently available diagnostic instruments or diagnostic constructs for detecting ASD symptoms in females.”
BackgroundInfluentialWhat is the Point of Fairness? Disability, AI and The Complexity of JusticePreprint
Bennett, C. L., & Keyes, O. (2019) · arXiv (Cornell University) · doi:10.48550/arxiv.1908.01024 · Cited by 66
“With diagnosis, researchers are confronted with biases in the pre-existing framework of autism – particularly the widelystudied gender bias in symptoms [24], and the consequential discrepancies in diagnostic rates [10] – and less-studied but firmly established biases around race and ethnicity, class and geography [4,…”
BackgroundSex Differences in Neurodevelopmental Disorders: A Key Role for the Immune System
Breach, M. R., & Lenz, K. M. (2022) · Current Topics in Behavioral Neurosciences · doi:10.1007/7854_2022_308 · Cited by 62
Salomone, E., Charman, T., McConachie, H., & Warreyn, P. (2016) · Child: Care, Health and Development · doi:10.1111/cch.12261 · Cited by 62
“2011) and, particularly, for girls with better language abilities (Giarelli et al. 2010).”
BackgroundResultADNP Plays a Key Role in Autophagy: From Autism to Schizophrenia and Alzheimer's Disease
Sragovich, S., Wagner, A. M., & Gozes, I. (2017) · BioEssays · doi:10.1002/bies.201700054 · Cited by 64
Simcoe, S. M., Brownlow, C., Garnett, M. S., Rynkiewicz, A., & Attwood, T. (2018) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-017-3324-9 · Cited by 56
“However, several studies indicate females receive a diagnosis at later ages compared to males (Andersson et al. 2013; Dworzynski et al. 2012; Giarelli et al. 2010).”
BackgroundInfluentialA Qualitative Exploration into the Sensory Experiences of Autistic Mothers
Talcer, M. C., Duffy, O. M., & Pedlow, K. (2021) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-021-05188-1 · Cited by 79
Ross, L. A., Bene, V. A. D., Molholm, S., Frey, H., & Foxe, J. J. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00185 · Cited by 65
“…with ASD have been reported to show more “externalizing behavior” including hyperactivity, aggressive behaviors, and repetitive and stereotyped behaviors and interests (Giarelli et al., 2010; Bölte et al., 2011; Hattier et al., 2011; Mandy et al., 2012; Solomon et al., 2012; Szatmari et al., 2012).”
BackgroundExploring sex differences in autistic traits: A factor analytic study of adults with autism
Grove, R., Hoekstra, R., Wierda, M., & Begeer, S. (2017) · Autism · doi:10.1177/1362361316667283 · Cited by 54
“In addition, research may not capture the full range of women on the spectrum, given the delay in diagnosis experienced by autistic females (Giarelli et al., 2010; Rutherford et al., 2016), and few studies to date evaluating sex differences in adult samples.”
BackgroundSelf-reported sex differences in high-functioning adults with autism: a meta-analysis
Moseley, R. L., Hitchiner, R., & Kirkby, J. A. (2018) · Molecular Autism · doi:10.1186/s13229-018-0216-6 · Cited by 66
Correlates of age at diagnosis of autism spectrum disorders in six Canadian regions
Coo, H., Ouellette-Kuntz, H., Lam, M., Yu, C. T., Dewey, D., Bernier, F. P., Chudley, A. E., Hennessey, P. E., Breitenbach, M. M., Noonan, A. L., et al. (2012) · Chronic Diseases and Injuries in Canada · doi:10.24095/hpcdp.32.2.05 · Cited by 56
Friend matters: sex differences in social language during autism diagnostic interviews
Cola, M., Yankowitz, L. D., Tena, K. G., Russell, A. R. B., Bateman, L., Knox, A., Plate, S. N., Cubit, L. S., Zampella, C., Pandey, J., et al. (2022) · Molecular Autism · doi:10.1186/s13229-021-00483-1 · Cited by 68
“The school-age period is especially important for understanding sex differences among autistic individuals without co-occurring intellectual disability (ID), as many of these individuals, particularly girls, are first diagnosed during this time [79, 80].”
BackgroundRose’Meyer, R. B. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-37 · Cited by 58
“ASD is generally viewed as a male predominant disorder with a ratio of 4:1 to females [6].”
BackgroundChallenges of Females with Autism: A Parental Perspective
Mademtzi, M., Singh, P., Shic, F., & Koenig, K. (2018) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-017-3341-8 · Cited by 54
The Theory of Intersectionality: A New Lens for Understanding the Barriers Faced by Autistic Women
Saxe, A. (2017) · Canadian Journal of Disability Studies · doi:10.15353/cjds.v6i4.386 · Cited by 72
Langmann, A., Becker, J., Poustka, L., Becker, K., & Kamp‐Becker, I. (2016) · Research in Autism · doi:10.1016/j.rasd.2016.11.012 · Cited by 51
“Recent studies demonstrate that females without cognitive impairment are especially likely to be diagnosed at older ages, implying suboptimal treatment due to delayed start of specific therapeutic interventions (Begeer et al., 2013; Giarelli et al., 2010).”
BackgroundLobular patterns of cerebellar resting‐state connectivity in adults with Autism Spectrum Disorder
Olivito, G., Lupo, M., Laghi, F., Clausi, S., Baiocco, R., Cercignani, M., Bozzali, M., & Leggio, M. G. (2017) · European Journal of Neuroscience · doi:10.1111/ejn.13752 · Cited by 56
“, 2015), as well as to the fact that the diagnosis is later in females than in males (Begeer et al., 2013; Giarelli et al., 2010).”
BackgroundLeader, G., Hogan, A., Chen, J. L., Maher, L., Naughton, K., O’Rourke, N., Casburn, M., & Mannion, A. (2021) · Developmental Neurorehabilitation · doi:10.1080/17518423.2021.1917717 · Cited by 73
Are the diagnostic rates of autistic females increasing? An examination of state‐wide trends
Harrop, C., Tomaszewski, B. R., Putnam, O. C., Klein, C. B., Lamarche, E., & Klinger, L. G. (2024) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.13939 · Cited by 65
Autism in community pre-schoolers: Developmental profiles
Kantzer, A., Fernell, E., Gillberg, C., & Miniscalco, C. (2013) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2013.06.016 · Cited by 52
McCormick, C. E. B., Kavanaugh, B. C., Sipsock, D., Righi, G., Oberman, L. M., Moreno‐De‐Luca, D., Uzun, E. D. G., Best, C. R., Jerskey, B. A., Quinn, J. G., et al. (2020) · Autism Research · doi:10.1002/aur.2261 · Cited by 52
“, 2009], while others have not identified such differences [Giarelli et al., 2010; Hiller, Young, & Weber, 2016; Mandell et al., 2010; Mazurek et al., 2014].”
BackgroundKumazaki, H., Muramatsu, T., Kosaka, H., Fujisawa, T. X., Iwata, K., Tomoda, A., Tsuchiya, K. J., & Mimura, M. (2015) · Research in Autism · doi:10.1016/j.rasd.2014.12.011 · Cited by 54
Mandell, D. S., & Lecavalier, L. (2014) · Autism · doi:10.1177/1362361314538131 · Cited by 51
“The CDC surveillance studies have resulted in rich datasets from which much important research has been published regarding disparities in diagnosis (Giarelli et al., 2010; Mandell et al., 2009), age of diagnosis (Shattuck et al.”
BackgroundSelf-citationMazurek, M. O., Lu, F., Symecko, H., Butter, E., Bing, N. M., Hundley, R. J., Poulsen, M., Kanne, S. M., Macklin, E. A., & Handen, B. L. (2017) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-017-3200-7 · Cited by 49
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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