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How Different Are Girls and Boys Above and Below the Diagnostic Threshold for Autism Spectrum Disorders?
Abstract
This study aimed to explore sex differences in autistic traits in relation to diagnosis, to elucidate factors that might differentially impact whether girls versus boys meet diagnostic criteria for autism or a related autism spectrum disorder (ASD).
Data from a large population-based sample of children were examined. Girls and boys (aged 10-12 years) meeting diagnostic criteria for an ASD were compared with those failing to meet diagnostic criteria despite very high scores on a trait measure of ASD, the Childhood Autism Spectrum Test (CAST). Information about behavioral difficulties as reported by teachers, and early estimates of intellectual functioning, were compared.
Girls, but not boys, meeting diagnostic criteria for ASD showed significantly more additional problems (low intellectual level, behavioral difficulties) than peers with similarly high CAST scores who did not meet diagnostic criteria.
These data suggest that, in the absence of additional intellectual or behavioral problems, girls are less likely than boys to meet diagnostic criteria for ASD at equivalently high levels of autistic-like traits. This might reflect gender bias in diagnosis or genuinely better adaptation/compensation in girls.
... Girls within populations-based samples with high levels of autistic-like traits tend to have better social skills and less behavioral problems than boys with comparably high levels of ASD traits, which might make it harder to recognize their autistic characteristics (Dworzynski et al., 2012). Females with ASD also tend to have less restricted and repetitive behavior and interests (RRB) compared to males with ASD (Lai et al., 2015;Van Wijngaarden-Cremers et al., 2014). ...
... Females with ASD also tend to have less restricted and repetitive behavior and interests (RRB) compared to males with ASD (Lai et al., 2015;Van Wijngaarden-Cremers et al., 2014). Further, females who reach the diagnostic threshold of ASD often have lower intelligence scores and more cognitive and behavioral problems than boys with ASD (Dworzynski et al., 2012). An important factor in the skewed prevalence ratio in ASD seems to be related to cognitive level as lower intelligence quotient (IQ) is associated with a lower male-tofemale ratio (Lehnhardt et al., 2016;Loomes et al., 2017;Werling & Geschwind, 2013). ...
... Further, ADI-R involves a clinical rating and not just parent reports, taking into account the clinical judgment. However, it might be that the diagnostic instruments like the ADI-R are less sensitive to female ASD characteristics (Beggiato et al., 2017), and that females that get a ASD diagnosis often need to have additional cognitive or behavioral problems before receiving a referral to the clinic (Dworzynski et al., 2012). Even though the ADI-R have three domains, the two domains reciprocal social interaction and communication are collapsed together in DSM-5. ...
Girls and boys might differ in autistic symptoms and associated cognitive difficulties such as executive function (EF). We investigated sex differences in the relationship between parent rated EF and autistic symptoms in 116 children and adolescents (25 girls) aged 5–19 years with an intelligence quotient above 70 and an autism spectrum disorder (ASD) diagnosis. They were rated with the behavior rating inventory of executive function (BRIEF) and the autism diagnostic interview revised (ADI-R). We found a positive association between EF and the ADI-R domains of reciprocal social interaction ( p < 0.001) and communication ( p = 0.001) in girls, while these relationships were small and non-significant in boys. Our results provide a greater understanding of the sex-specific characteristics of children and adolescents with ASD.
... D'après le DSM-5 [3], le diagnostic de TSA serait attribué quatre fois plus souvent chez les garç ons que chez les filles. Et, effectivement, la plupart des études, menées dans ce champ, indiquent alors une prévalence homme/femme de 4:1 5 , fortement modulée par les compétences cognitives, puisque déclinant jusqu'à 2:1 lorsque le TSA est accompagné d'une déficience intellectuelle importante, et s'élevant jusqu'à 10:1 chez les personnes ayant une capacité intellectuelle moyenne ou supérieure [50][51][52][53][54]. ...
... Cela conduit les femmes autistes à être exclues de manière disproportionnée des échantillons expérimentaux, alors que la répartition homme/femme pourrait être nettement plus équilibrée. Cette nouvelle évaluation du ratio refléterait alors l'existence d'un biais diagnostique sexiste ou « biais de genre », et fait écho aux nombreuses études qui s'accordent en affirmant que « notre compréhension des TSA a peut-être été substantiellement biaisée en faveur des hommes » et d'un rapport de masculinité exagéré dans le diagnostic de TSA, et dont une conséquence pourrait être que le trouble serait alors sous-identifié chez les femmes [21,29,[52][53][54]68,69], ce qui viendrait souligner davantage un risque disproportionné pour les femmes, ne répondant pas aux critères de TSA, de ne pouvoir accéder à un diagnostic clinique. Nous allons maintenant passer en revue les différents facteurs qui semblent jouer un rôle dans ce sous-diagnostic de l'autisme féminin, avec un intérêt particulier pour la question du « camouflage », avant d'examiner leurs conséquences. ...
... Également, le camouflage contribuerait au sous-diagnostic de TSA ; en tout cas, c'est une hypothèse ou une explication, bien que partielle, fréquemment évoquée pour discuter les taux accrus de diagnostics manqués ou tardifs chez les adultes autistes, et bien plus encore concernant les femmes autistes [29,30,36,46,53,59,62,63,68,74,76,81,86,101,108,112,115]. Les stratégies de camouflage seraient, en effet, plus courantes chez les femmes atteintes de TSA que chez les hommes (par exemple, [66,101,[116][117][118]), cela à tous les âges de la vie [55,80,112,113,116,119]. ...
Résumé
Objectifs
La littérature scientifique suggère que le Trouble du spectre autistique (TSA), chez les femmes, peut se manifester, de façon différente, en raison de nombreux facteurs, impactant, de ce fait, l’obtention de ce diagnostic, en particulier à l’âge adulte. D’après des données récentes, la prévalence du diagnostic de TSA évoluerait vers un rapport de trois hommes pour une femme. Plusieurs auteurs ont tenté d’expliquer ce ratio en évoquant, notamment, de possibles ressources subjectives amenant les femmes à ne pas présenter les manifestations autistiques attendues par les outils standards. En particulier, certaines « stratégies de camouflage » ne seraient pas détectées lors des évaluations habituelles. Or, ces stratégies comportent certains désavantages, notamment sur le registre de la construction identitaire.
Méthode
Nous avons procédé à une revue de littérature sur les caractéristiques et expressions du phénotype de l’autisme féminin et sur les stratégies dites de « camouflage ». Dans ce cadre, nous avons traduit en français le Camouflaging Autistic Traits Questionnaire (CAT-Q), développé et validé par Hull et ses collègues (2019), afin d’encourager son évaluation scientifique dans le cadre de recherches sur le diagnostic de TSA pour des femmes.
Résultats
Nous avons alors repéré plusieurs raisons aux origines des problématiques diagnostiques rencontrées par des femmes autistes : l’aspect androcentrique de la recherche sur l’autisme ; les biais sexuels ; la complexité diagnostique en lien avec les nombreuses comorbidités ; ainsi que l’inadéquation des instruments et dispositifs diagnostiques. L’évolution de l’autisme au féminin suppose aussi que la construction de la personnalité vient moduler l’expression de ces troubles.
Discussion
Ce travail ouvre, à la fois, à une réflexion pour l’amélioration des procédures et outils diagnostiques pour tous les sujets autistes et à un intérêt clinique pour leurs ressources psychiques. Nous suggérons aussi que l’emploi d’une épreuve projective pourrait permettre de contourner certains des biais ainsi manifestés par les instruments usuels.
Conclusion
Ces discussions sont à poursuivre pour accompagner la prise de conscience des rapports entre l’autisme et le genre et avancer sur la modélisation des « stratégies de camouflage », cela afin de proposer des adaptations dans les pratiques cliniques et diagnostiques, répondre aux enjeux importants autour de la population de femmes autistes, et peut-être plus globalement participer à repenser l’hétérogénéité et les définitions de l’autisme.
... Autism Spectrum Disorder (ASD) is diagnosed more often in men than in women across all ages (Loomes et al., 2017). To understand this discrepancy, some researchers have suggested that traditional assessment prevents females from being diagnosed and more severe autistic symptoms and greater cognitive and behavioral problems were required to reach the ASD diagnosis in females (Dworzynski et al., 2012;Kopp & Gillberg, 2011). Moreover, females with ASD but without intellectual disability are more likely to "camouflage" their traits for better adaptation than males with the same condition (Lai et al., 2017). ...
... The opposite discrepancy of personal strengths highly rated by others in the high group was observed in females, which is generally consistent with those reported in a child study by Dworzynski et al. (2012). The researchers showed the significantly higher scores of the subclinical girls with in family. ...
Recently, individuals with autistic traits, especially female, have been known to use compensatory strategies (e.g. hiding their autistic traits or compensatory learning) for better adaptation. Though these strategies are predicted to be relevant with the non-clinical undiagnosed autistic people, their adaptive status and the factor contributing to it remain largely unexplored, especially the influence of gender. We explored the strengths of non-clinical adults with high autistic traits (high, N = 89, scored 19 or higher on Autism Spectrum Screening Questionnaire: ASSQ, self- and/or other-ratings) who were respondents to an online survey recruited from all over Japan, using items of the personal strengths in the Adult Self Report (ASR) and Adult Behavior Checklist (rating by others). We compared the high group with the low autistic traits group (low, N = 408, less than 19 on both ASSQ self- and other- ratings on the online survey) and the autism spectrum disorder group (ASD, N = 50, initial visit to hospital), as well as by gender. Personal strengths estimated by others were significantly higher than those by self in the high group, especially in females, but were opposite in the ASD group and equivalent in the low group, respectively. Multiple regression analysis revealed that personal strengths estimated by others increased adaptive functioning, with worsening of internalizing symptoms in high group females, both of which were assessed using ASR. Thus, non-clinical autistic females appeared to have unique adaptation styles.
... In the recent literature, the role of social camouflaging in the gender gap related to ASD has been widely discussed. In particular, the systematic use of camouflaging has been considered to be one of the factors responsible for the delay or the misdiagnosis of ASD among females [44][45][46][47][48], hence contributing to the commonly observed male preponderance in ASD prevalence [34]. In this framework, the recent literature stressed how the strikingly higher prevalence of ASD among males should be reconsidered in light of gender specific manifestations of ASD, while, to date, ASD diagnostic criteria are based on the classical male manifestations of the disorder [34,41,49,50]. ...
... Considering that social camouflaging is typically adopted by high-functioning individuals, the parallel decrease between IQ and gender gap in ASD diagnosis may eventually support the hypothesis of an involvement of the use of camouflaging strategies in the under-diagnosis of ASD among females. Moreover, females are often diagnosed with ASD later in life compared to males [56][57][58][59][60], unless they show comorbid cognitive or behavioral symptoms [45]. ...
In the recent years, growing attention has been paid to the use of camouflaging strategies by adult populations suffering from autism spectrum disorder (ASD) with milder manifestations and without intellectual impairment, which may lead to a delay in diagnosis or even a misdiagnosis. In fact, high-functioning ASD individuals were reported to be more aware of their communication difficulties and were more likely make considerable efforts to adjust their behavior to conventional rules of non-autistic individuals, learning to imitate other non-ASD individuals. Moreover, females reported a higher frequency of camouflaging strategies, suggesting a role of camouflaging in the gender gap of the ASD diagnosis. Although camouflaging strategies can sometimes grant a better level of adjustment, even resulting in a hyper-adaptive behavior, they are also often correlated with negative mental health consequences due to the long-term stress associated with continuous attempts to adapt in day-to-day life. In this framework, the aim of the present work was to review the available studies that assessed the presence and correlates of camouflaging strategies in individuals with ASD. Although the literature available on the topic is still scarce, some interesting correlations between camouflaging and anxious and depressive symptoms, as well as suicidality, were highlighted. In particular, the controversial and sometime opposite thoughts and results about camouflaging may be clarified and integrated in light of a dimensional approach to psychopathology.
... and support. Autistic girls are not necessarily undiagnosed in childhood because their autism requires less support; in fact, research shows that even when girls have comparable condition profiles to boys, they are still diagnosed with autism less often than their male counterparts [5]. One possible explanation for this finding is that autism manifests differently in girls and boys, and thus may not be as obvious to clinicians looking for the male-standard prototype of what "seems autistic. ...
... As previously discussed, autism throughout its history has been primarily studied and diagnosed using maledominated samples [48]. At the same time, most earlyonset developmental disorders (i.e., those identifiable within the first 6 years of life) are more commonly diagnosed in boys and the populations are, therefore, heavily male-dominated [5]. Therefore, one possible explanation for the current study findings and their relationship to the identification and diagnosis of girls with autism is that girls simply are not affected by autism at the same rate as boys, and that when girls are affected by autism one of their characteristics is that they exhibit more intact insight into social relationships, reflecting a more mild form of internal social cognitive difficulty. ...
Autism was formally recognized by the medical community in the first half of the twentieth century. Almost 100 years later, a small but growing literature has reported sex differences in the behavioral expression of autism. Recent research has also begun to explore the internal experiences of individuals with autism, including social and emotional insight. The current study examines sex differences in language-based markers of social and emotional insight in girls and boys with autism and non-autistic peers during semi-structured clinical interviews. Sixty-four participants aged 5 to 17 years were individually matched on chronological age and full-scale IQ to form four groups: autistic girls, autistic boys, non-autistic girls, and non-autistic boys. Transcribed interviews were scored using four scales that index aspects of social and emotional insight. Results revealed the main effects of diagnosis, such that youth with autism exhibited lower insight than non-autistic youth on scales indexing social cognition and object relations, emotional investment, and social causality. With regards to sex differences, across diagnoses, girls were rated higher than boys on the social cognition and object relations, emotional investment, and social causality scales. Examined within each diagnosis separately, clear sex differences emerged: both autistic and non-autistic girls demonstrated better social cognition and understanding of social causality than boys in their respective diagnostic groups. No within-diagnosis sex differences were found on the emotional insight scales, however. These results suggest that relatively enhanced social cognition and understanding of social causality in girls may be a population-level sex difference that is preserved in autism, despite the core social challenges that characterize this condition. The current findings reveal critical new information about insight into social and emotional thinking and relationships in autistic girls versus boys that have important implications for improving identification and designing effective interventions.
... Si stima che generalmente quattro maschi su una donna siano colpiti da ASD, anche se il dato relativo al genere decresce all'aumentare della gravita del disturbo stesso Geschwing, 2013, Werling et al., 2016). Questa pronunciata disparita riferita al genere sembra essere spiegata dalla diversità delle manifestazioni dei sintomi nei soggetti di sesso femminile e da possibili errori diagnostici (Dworzynski et al., 2012). ...
... Comunemente sono associati all'ASD anche altri disturbi in comorbilità tra cui: -disabilità intellettiva in circa i 30% dei casi anche se storicamente questo dato era pari al 70% (Dworzynski et al., 2012) -deficit attentivi nel 30-40% dei casi, -problemi sensoriali -problemi di natura gastrointestinale -deficit immunitari -ansia e depressione -problemi del sonno e altre condizioni mediche associate , Cheslack-Postava et al., 2013. ...
Theoric and psychometric issues in the relationship between autism and visual impairments
... Si stima che generalmente quattro maschi su una donna siano colpiti da ASD, anche se il dato relativo al genere decresce all'aumentare della gravita del disturbo stesso Geschwing, 2013, Werling et al., 2016). Questa pronunciata disparita riferita al genere sembra essere spiegata dalla diversità delle manifestazioni dei sintomi nei soggetti di sesso femminile e da possibili errori diagnostici (Dworzynski et al., 2012). ...
... Comunemente sono associati all'ASD anche altri disturbi in comorbilità tra cui: -disabilità intellettiva in circa i 30% dei casi anche se storicamente questo dato era pari al 70% (Dworzynski et al., 2012) -deficit attentivi nel 30-40% dei casi, -problemi sensoriali -problemi di natura gastrointestinale -deficit immunitari -ansia e depressione -problemi del sonno e altre condizioni mediche associate , Cheslack-Postava et al., 2013. ...
Relationship between autism and visual impairments.
... Si stima che generalmente quattro maschi su una donna siano colpiti da ASD, anche se il dato relativo al genere decresce all'aumentare della gravita del disturbo stesso Geschwing, 2013, Werling et al., 2016). Questa pronunciata disparita riferita al genere sembra essere spiegata dalla diversità delle manifestazioni dei sintomi nei soggetti di sesso femminile e da possibili errori diagnostici (Dworzynski et al., 2012). ...
... Comunemente sono associati all'ASD anche altri disturbi in comorbilità tra cui: -disabilità intellettiva in circa i 30% dei casi anche se storicamente questo dato era pari al 70% (Dworzynski et al., 2012) -deficit attentivi nel 30-40% dei casi, -problemi sensoriali -problemi di natura gastrointestinale -deficit immunitari -ansia e depressione -problemi del sonno e altre condizioni mediche associate , Cheslack-Postava et al., 2013. ...
... Autistic adolescent females are more likely to report having intimate friendships [56] and report being more motivated to maintain such friendships compared to autistic males [51,55,56]. In non-standardized, parent-reported measures of social competence across childhood and adolescence, autistic females are rated higher than autistic males on conversational ability (interest, flow, reciprocity, topic maintenance) [57], as well as on ratings of prosocial behavior [58], pretend play [59], social awareness, and susceptibility to peer pressure [60]. Autistic females exhibit more vivid use of gestures [63] and spend more time than autistic males looking at faces in a way that matches non-autistic females [24,61], providing further evidence of a female camouflage effect [24,61]. ...
... Research investigating sex differences in cooccurring conditions with autism is mixed. Some works have suggested autistic females have higher rates of co-occurring behavioral and intellectual difficulties [58,64,66], including irritability and externalizing disorders [66]. Other research based on clinical observation and parent-report suggests that females have fewer behavioral concerns (particularly in classroom settings) [55], decreased rates of co-occurring externalizing disorders (e.g., oppositional defiant disorder) [17,89] or no significant differences in internalizing and externalizing concerns compared to autistic males [90,91]. ...
Purpose of ReviewFemales and males are disproportionately diagnosed with autism, a sex difference that has historically represented this neurodevelopmental condition. The current review examines lifespan developmental trajectories of autism based on sex to elucidate behavioral phenotypic differences that may contribute to differential rates of diagnosis.Recent FindingsWe review sex differences in diagnostic criteria: social communication and restricted interests/repetitive behaviors (RRBs). Results suggest RRBs are more indicative of a diagnosis in males, whereas social differences are more indicative of a diagnosis in females. Factors contributing to a later diagnosis in females include social strengths (camouflaging) and diagnostic overshadowing.SummarySex differences in diagnostic criteria may contribute to differential rates of identification in males and females. Sex differences are most pronounced when assessing naturalistic social communication instead of reliance on standardized measure. Numerous future directions are identified including increasing samples of sub-threshold autistic females and evaluating longitudinal sex differences.
... When symptoms such as intellectual disability and behavioral difficulties are milder, females appear to be less likely to receive an ASD diagnosis than males. This suggests that females may need to show more characteristic symptoms than males to receive a diagnosis [12]. When looking at younger children with ASD, girls experience more difficulties than boys in terms of communication and sleep problems [13]. ...
... Epilepsy is associated with significant burdens in those who are affected, reducing quality of life and everyday functioning [50,51]. When looking at ASD identification, there are several distinct attributes that are different, which may help to explain why females need to present with more severe symptoms than men in order to receive an ASD diagnosis [12]. Additionally, this has been linked to a higher incidence of seizures [52]. ...
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that has a high prevalence and a significant economic impact. Our knowledge regarding neurosensory disorders and co-occurring medical conditions in the ASD population is limited, particularly for autistic women. Most of the studies include male participants or do not make comparisons with their female counterparts. The objective of this systematic review article is to explore the quality of life as well as the prevalence of neurosensory disorders and co-occurring medical conditions in individuals on the spectrum, with a special focus on autistic females. The literature search was carried out in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria. A protocol of this systematic review was designed a priori and was registered in the PROSPERO database (registration number: CRD42022330368). We concluded that numerous medical areas were of concern. Autistic females are more likely than their male counterparts with ASD to suffer from psychiatric conditions such as post-traumatic stress syndrome, depression, and eating disorders. They are also more likely to report GI-related disturbances and chronic pain. Further investigations are warranted to determine quality of life, as well as the prevalence and severity of neurosensory disorders in individuals with ASD, specifically studies comparing autistic females with their male counterparts. The information derived from these studies will help develop better support systems for individuals with autism, particularly females on the spectrum, in pursuit of improving their quality of life.
... In the past ASD was thought to be a rare condition, affecting about one in 2,000 individuals while the Centers for Disease Control and Prevention (CDC) in United States estimated in 2021 the prevalence at 1 in 44 children (2,3). In this heterogeneous condition, the sex ratio differs according to the child's clinical characteristics, such as the severity of ASD symptomatology, intellectual level, or chronological age (4). Indeed, although the overall sex ratio in ASD is estimated to be approximately 4:1, it is 2:1 in cases of associated intellectual disability (ID) and 11:1 in the absence of ID (3,(5)(6)(7). ...
... Indeed, although the overall sex ratio in ASD is estimated to be approximately 4:1, it is 2:1 in cases of associated intellectual disability (ID) and 11:1 in the absence of ID (3,(5)(6)(7). Moreover, the sex ratio is estimated to be 5:1 during childhood and 2:1 during adulthood (4,8,9). ...
Objective
The literature on sex related-clinical differences for children with autism spectrum disorder (ASD) is highly contradictory, whereas this topic has major clinical implications. We aimed to investigate sex-related clinical differences in children with ASD without intellectual disability (ID).
Materials and methods
We compared 319 boys and 65 girls with ASD without ID, aged from 2 to 12 years, recruited from a multiregional cohort on their clinical profiles based on the scores for the Vineland-II, the SRS-2, the ADOS calibrated severity score, sensory processing, aberrant behaviors, and comorbidity rates.
Results
Our results confirm a high sex ratio of 4.9 males/females. Many similarities were found in the clinical profiles. However, we found that girls had higher SRS-2 total scores. In addition, there was a negative correlation between the SRS-2 total score and the intellectual quotient level (IQ) for girls only.
Conclusion
We confirm the higher rates of boys with ASD without ID. A comparison between the girls and boys showed them to have similar clinical profiles, except for the SRS- 2 total scores, which were higher among girls, suggesting more severe social impairment perceived by parents. Our findings that the cognitive level is related to ASD severity in girls should be taken into account during the diagnostic procedure in the clinical interpretation of gold-standard measures of ASD, and additional clinical observations are necessary.
Clinical trial registration
[ ClinicalTrials.gov ], identifier [NCT02625116s].
... The relevance of camouflaging stems from an awareness that it is typically enlisted in social situations (Dworzynski et al., 2012;Tierney et al., 2016). The concealing of difficulties can be labelled as camouflaging and can take the form of suppressing and hiding behaviours or repeating and replaying behaviours and interactions which are considered to have positive outcomes (Bargiela, Steward & Mandy, 2016;Kanfiszer, Davies & Collins, 2017). ...
... Camouflaging has received a large range of consideration, with general definitions focusing upon enlisting compensatory mechanisms to hide difficulties and mimic perceived positive actions and behaviours (Dworzynski et al., 2012;Tierney et al., 2016). Irrespective of the specific definition, there is a level of agreement in them all, in that there is a difficulty to detect such behaviours, as well the process being learnt over time and is not actively innate (Attwood & Grandin, 2006). ...
Surfacing the Perspective of Autistic Girls Aged Between Thirteen and Eighteen Within
a Complex Social Discourse on Autism: A Qualitative Inquiry
... The role sex and gender play in camouflaging is increasingly debated (Fombonne, 2020;Pearson & Rose, 2021). Nonetheless, camouflaging is often discussed in relation to female sex/gender and offered as partial explanation for increased rates of missed or late diagnosis found amongst this group (e.g., Duvekot et al., 2017;Dworzynski et al., 2012;Head et al., 2014;Kirkovosi et al., 2013;Lai & Baron-Cohen, 2015;Lehnhardt et al., 2016;Shattuck et al., 2009;Whitlock et al., 2020). To date, much of this discussion has focused on male-female sex/gender differences without consideration of non-binary genders. ...
... Thus, the current evidence base appears to support suggestions that camouflaging is more associated with the experiences of autistic females and girls/women, and may partially explain increased rates of missed or late diagnosis found amongst them (Duvekot et al., 2017;Dworzynski et al., 2012;Head et al., 2014;Kirkovski et al., 2013;Lai & Baron-Cohen, 2015;Lehnhardt et al., 2016;Shattuck et al., 2009;Whitlock et al., 2020). Yet, the consistent documentation of camouflaging in autistic males and boys/men also shows that camouflaging is not specific to females and girls/women Hull, Lai, et al., 2020). ...
Some autistic individuals modify their innate autistic social behaviour in order to adapt to, cope within, and/or influence the predominately non-autistic social environment; a phenomenon often termed ‘camouflaging’ (Attwood, 2007; Dean et al., 2017; Hull et al., 2017; Lai et al., 2017; Schuck et al., 2019). Camouflaging is one social coping strategy used by autistic people attempting to overcome social challenges within cross-neurotype social interactions and secure employment, develop friendships and romantic relationships, and avoid stigmatisation (Cage & Troxell-Whitman, 2019; Hull et al., 2017). Yet the act of camouflaging is thought to be cognitively effortful and taxing; prone to breakdown under increased social demands and complexity and/or psychological distress; and associated with increased mental health difficulties, misdiagnosis, and identity confusion (e.g., Beck et al., 2020; Cage & Troxell-Whitman, 2019; Cassidy et al., 2018; Hull et al., 2021; Lai et al., 2017; Livingston, Colvert, et al., 2019). Camouflaging research is in infancy; conceptualisations, definitions and measures of camouflaging are still emerging, and much is unknown about relationships between camouflaging and various constructs such as mental health, wellbeing, and the achievement of important social and employment outcomes. This thesis presents a combination of qualitative and quantitative methods to further current understanding of social coping in autistic people by furthering the current conceptualisation of camouflaging including camouflaging behaviours and processes; examining the relationships between camouflaging and social, employment, and mental health outcomes; and exploring social experiences that contrast with camouflaging. The first chapter provides a general introduction to, and overview of, the relevant background research and provides a rationale for the work presented in the thesis. Chapter 2 involves a discussion of methodological considerations involved in the design and analysis of research presented in the thesis. Chapter 3, a systematic review, provides a comprehensive and critical evaluation of the current quantitative camouflaging research base; identifying consistencies in the current evidence as well as issues that require further research. Chapters 4 and 5 describe an interpersonal recall study, using thematic analysis to detail the development, process, and consequences of camouflaging (Chapter 4) and content analysis to describe the behaviours exhibited, altered, or avoided by autistic adults when camouflaging (Chapter 5). Chapter 6, a quantitative cross-sectional study, details associations between camouflaging and social and employment outcomes and indicators of mental health difficulties/psychological distress. Chapter 7 involves a qualitative survey and uses thematic analysis to explore an alternative to camouflaging, specifically autistic adults’ experiences of socialising in ways that feel authentic to them. The final chapter (Chapter 8) provides an overarching discussion of the findings and implications of the thesis with consideration to strengths and limitations.
... When synthesising population-based/non-referred samples, however, a recent meta-analysis found the male-to-female ratio was closer to three males to every female (Loomes et al., 2017). Such findings suggest that a diagnostic sex/gender 1 , bias exists, resulting in some autistic females 2 going undiagnosed (Dworzynski et al., 2012), misdiagnosed (Kentrou et al., 2019;Kirkovski et al., 2013), or diagnosed later in life compared to males (Begeer et al., 2013;Giarelli et al., 2010;Rivet & Matson, 2011). ...
... There is also emerging evidence to suggest that some females present with a different phenotype of autism to males (Hull et al., 2020;Kirkovski et al., 2013;Wilson et al., 2016). The female autism phenotype is thought to be characterised by an altered expression of the core traits of autism, as well as possible additional characteristics that are not currently recognised by diagnostic criteria (Dworzynski et al., 2012;Hull et al., 2017Hull et al., , 2020Kirkovski et al., 2013;Kopp & Gillberg, 2011;Kreiser & White, 2014;Lai et al., 2015;Rivet & Matson, 2011;Van Wijngaarden-Cremers et al., 2014). Although no conclusive framework has yet been derived, all proposed theories may contribute to this diagnostic sex/gender bias, delaying early detection in many females and their access to early supports and services, and consequently hindering their development, mental health, and well-being (Pellicano et al., 2014). ...
Compared to males, females are at a much greater likelihood of receiving a later diagnosis of autism, which impacts their opportunity to receive early support. To assist with early identification, this systematic literature review aimed to ascertain whether females differ from males in the early childhood signs of autism. The small number of heterogeneous studies made it difficult to draw conclusions, although it appears that females and males under 6 years of age are more similar than different in terms of their expression of autistic behaviours. Given the discrepant sex/gender ratio in autism, these findings highlight the importance of exploring whether there are different and/or specific, not yet identified, early signs of autism in females and males.
... They may also experience higher rates of (internalising) emotional problems (Gaub & Carlson, 1997;Gershon & Gershon, 2002). Autistic girls may have more severe communicational difficulties, anxiety, depression (Hartley & Sikora, 2009) and behavioural problems compared with boys (Dworzynski, Ronald, Bolton, & Happé, 2012). ...
... They may also experience higher rates of (internalising) emotional problems (Gaub & Carlson, 1997;Gershon & Gershon, 2002). Autistic girls may have more severe communicational difficulties, anxiety, depression (Hartley & Sikora, 2009) and behavioural problems compared with boys (Dworzynski et al., 2012). Despite emerging evidence for the relationship between conduct problems and ADHD (Sigfusdottir et al., 2017), further research is required to assess whether ADHD (across the full spectrum of severity) is associated with higher conduct and emotional problems. ...
Background
The purpose of this paper is to identify the trajectory of conduct and emotional problems for young people within the general population at four time points (between 9 years 7 months and 16 years 6 months), investigate their relationship with hyperactive/inattentive traits and explore the moderating effect of autistic social traits (ASTs).
Methods
Data from 9305 individuals involved in The Avon Longitudinal Study of Parents and Children (ALSPAC) study were included. Conduct and emotional problems and hyperactive/inattentive traits were measured by the Strengths and Difficulties Questionnaire. ASTs were assessed using the Social Communication Disorder Checklist. Individual trajectories for conduct and emotional problems were identified via growth curve modelling. Hyperactive/inattentive traits were included within the growth curve model as a time-varying covariate to determine their effect on these outcomes. Finally, participants were split into two groups (below and above clinical threshold ASTs Groups) and multi-group invariance testing was conducted on the data to identify the moderating effect of ASTs on the relationship between hyperactive/inattentive traits and outcomes (i.e. conduct and emotional problems).
Results
Hyperactive/inattentive traits were associated with higher rates of conduct and emotional problems for both boys and girls. The presence of ASTs moderated these relationships for boys, but not for girls, by increasing the risk of boys with hyperactive/inattentive traits developing greater conduct and emotional problems.
Conclusions
These findings underscore the importance of identifying hyperactive/inattentive traits and ASTs in young people and addressing the increased risk of conduct and emotional problems. Research and clinical implications are explored.
... Several barriers to detection in females with ADHD and ASD have been reported as well as criticism of the diagnostic tools used developed, using predominantly male populations, leading to a lack of sensitivity for female specific ADHD and ASD symptoms (Kopp & Gillberg, 2011;Lockwood Estrin et al., 2021;Ohan & Johnston, 2005). Both ADHD and ASD with normal intellectual ability are diagnosed later in girls than boys and often coexisting behavioral/emotional problems are needed for a diagnosis (Dworzynski et al., 2012;Frazier et al., 2014;Young et al., 2020). Camouflaging behavior has recently been reported among females with both ADHD and ASD leading to an underestimation of their problems (Gould & Ashton-Smith, 2011;Young et al, 2020). ...
Objective:
Investigate diagnostic stability, daily life functioning and social situation in women diagnosed with ADHD and/or ASD in childhood.
Methods:
Prospective 17 to 20-year follow-up study of 100 girls of whom 92 diagnosed in childhood with main DSM-IV ADHD or ASD, and 60 comparison girls. Ninety and 54 of these women were examined (M = 27, 4 years old) with semi-structured interviews and questionnaires, close relatives were interviewed.
Results:
At follow-up, 89% of women with ADHD or ASD in childhood still met the criteria for either of these diagnoses. Very few women were "in remission." In 34% the main diagnosis shifted from ADHD to ASD. Women with ADHD and ASD had significantly more disability and unfavorable social situation than comparison women.
Conclusion:
Women with ADHD and/or ASD in childhood had impairing problems 17 to 20 years later. Early ADHD changed to ASD in adulthood in some cases. Nearly all with ASD met criteria for ADHD as adults.
... A men-to-women ratio of 4:1 was observed in our sample, in line with traditional epidemiologic reports (46,47). However, in the last decades, estimates have pointed to a reduced 3:1 ratio (8,48,49). ...
Introduction
Autistic men and women are more likely to experience health issues than the general population, although the available epidemiological studies addressing co-occurrence conditions are limited. This is the first Spanish epidemiologic study addressing the health profile and poor-health exacerbating factors in individuals of all ages with autism spectrum disorder (ASD).
Methods
We analyzed 2,629 registries extracted from Autism Spain’s sociodemographic registry (November 2017–May 2020). A descriptive health data analysis was conducted to assess the prevalence of other conditions associated to ASD in the Spanish population. Nervous system disorders (12.9%), mental health diagnoses (17.8%), and other comorbidities (25.4%) were reported. Men-to-women ratio was 4:1.
Results
Women, elder individuals and those with intellectual disability (ID) were at an increased risk of health comorbidities and psychopharmacological exposure. Women were also more prone to severe intellectual and functional impairment. Nearly all individuals had difficulties in their adaptative functioning, especially those with ID (50% of the population). Almost half of the sample received psychopharmacological treatments starting from infancy and early childhood, mostly antipsychotics and anticonvulsants.
Discussion
This study represents an important first approach to the health status of autistic people in Spain and can contribute to the development of public policies and innovative health strategies.
... Notably, deficits in different components of social behavior were also observed in adulthood: thus, adult LPS-exposed rats showed impaired sociability (in the three-chamber test) and altered social discrimination abilities (in the social discrimination test). These data highlight that prenatal LPS exposure induces in the rat offspring a wide range of impairments in the social domain beginning in early developmental stages, in line with clinical observations that children, adolescents and adults with ASD demonstrate marked socio-communicative deficits [52][53][54]. ...
Several studies have supported the association between maternal immune activation (MIA) caused by exposure to pathogens or inflammation during critical periods of gestation and an increased susceptibility to the development of various psychiatric and neurological disorders, including autism and other neurodevelopmental disorders (NDDs), in the offspring. In the present work, we aimed to provide extensive characterization of the short- and long-term consequences of MIA in the offspring, both at the behavioral and immunological level. To this end, we exposed Wistar rat dams to Lipopolysaccharide and tested the infant, adolescent and adult offspring across several behavioral domains relevant to human psychopathological traits. Furthermore, we also measured plasmatic inflammatory markers both at adolescence and adulthood. Our results support the hypothesis of a deleterious impact of MIA on the neurobehavioral development of the offspring: we found deficits in the communicative, social and cognitive domains, together with stereotypic-like behaviors and an altered inflammatory profile at the systemic level. Although the precise mechanisms underlying the role of neuroinflammatory states in neurodevelopment need to be clarified, this study contributes to a better understanding of the impact of MIA on the risk of developing behavioral deficits and psychiatric illness in the offspring.
... Historically, autistic females have been reported to be more likely to show intellectual disabilities, neurological problems and emotionalbehavioural challenges than autistic males [91][92][93][94][95][96] . The consequent presumption that autistic females are more likely to have cognitive and neurological impairments might have contributed to the underrecognition 15 and delayed diagnosis of autism in some females 68,97-102 , especially when their autistic features were less obvious 103 . ...
Health-related conditions often difer qualitatively or quantitatively
between individuals of diferent birth-assigned sexes and gender
identities, and/or with diferent gendered experiences, requiring
tailored care. Studying the moderating and mediating efects of sexrelated and gender-related factors on impairment, disability, wellbeing
and health is of paramount importance especially for neurodivergent
individuals, who are diagnosed with neurodevelopmental conditions
with uneven sex/gender distributions. Researchers have become aware
of the myriad infuences that sex-related and gender-related variables
have on the manifestations of neurodevelopmental conditions, and
contemporary work has begun to investigate the mechanisms through
which these efects are mediated. Here we describe topical concepts
of sex and gender science, summarize current knowledge, and discuss
research and clinical challenges related to autism, attention-defcit/
hyperactivity disorder and other neurodevelopmental conditions.
We consider sex and gender in the context of epidemiology, behavioural
phenotypes, neurobiology, genetics, endocrinology and neighbouring
disciplines. The available evidence supports the view that sex and
gender are important contributors to the biological and behavioural
variability in neurodevelopmental conditions. Methodological caveats
such as frequent confation of sex and gender constructs, inappropriate
measurement of these constructs and under-representation of specifc
demographic groups (for example, female and gender minority individuals
and people with intellectual disabilities) limit the translational potential
of research so far. Future research and clinical implementation should
integrate sex and gender into next-generation diagnostics, mechanistic
investigations and support practices.
... This results in fewer girls identified and diagnosed, particularly at the higher functioning end of the spectrum (Dworzynski et al., 2012) and when they do receive a diagnosis it is later than boys (Begeer, 2013). Later diagnosis will have meant they may have already been subject to years of misunderstandings and the negative costs associated with this, potentially leading to increased masking, negatively impacting their social and emotional mental health. ...
The purpose of this study was to explore how autistic females experience mainstream secondary school particularly relating to masking and camouflaging behaviours. It aimed to explore how they experience their education, their friendships and the differences that may exist in their behaviours at home compared to school as well as the support they specifically receive as an autistic female. This study aims to explore what is contributing to the development of the camouflaging behaviours that are seen more in girls on the autism spectrum during their adolescence when attending mainstream schools. It is widely understood that these behaviours can lead to poorer outcomes such as poorer mental health, exhaustion and burnout and even an increase in suicidality. It is essential therefore that we understand the reasons behind the masking behaviours and how their self-identity is developing as a female on the autism spectrum to tailor the support or create environments that will better support adolescent females on the autism spectrum to feel more at ease and reduce the need to ‘camouflage’. The study used three focus groups, two for autistic girls and one for their parents to explore what their experiences of mainstream secondary school were and whether this has led to masking and camouflaging behaviours developing. There is research that camouflaging behaviours begin to develop in adolescence and this study really wanted to try to explore the reasons behind this. The focus groups were conducted online and moderated to facilitate interaction and discussion between the participants. Data was analysed using thematic analysis and the following six themes were identified: 1) Searching for self, the conflicts with their self-identity. 2)The dismissal and devaluation of Parental concerns. 3)Meeting social norms in different environments. 4)Impact masking has psychologically and physically. 5)Taking off the mask - what helps? And the superordinate theme 6) Internalising negative perceptions of others. These themes revealed the challenges the girls experienced in their daily life and the challenges their parents faced in receiving recognition of their daughters needs and eventual diagnosis and consequently this population not receiving appropriate and timely support. Adopting a social theory lens hypothesised that adopting masking behaviours were largely the result of internalising ‘stigmatisation’, as they did not ‘fit’ the current conceptualisation of autism nor did they ‘fit’ into the non-autistic culture and this led to the girls developing strategies to try to conceal and hide their autism and fit within the mainstream school context. The challenges of long-term masking for the girls had significant impacts on the girls’ relationships, learning, family life and particularly consequences for their mental health in addition to not receiving adequate support.
... Previous studies have suggested that females, but not males, who meet the diagnostic criteria for ASD had significantly more psychiatric symptoms, such as a low intellectual level, behavioral and cognitive difficulties, and schizophrenia spectrum disorders [9,12,17]; our findings are partially in agreement. In the current study, compared with females with ASD, males with ASD were found to have a higher prevalence of ADHD and disruptive behavior disorder but a lower prevalence of schizophrenia, bipolar disorder, and intellectual disability. ...
It remains unclear how major psychiatric comorbidities and parental psychiatric disorders differ in males and females with autism spectrum disorder (ASD). Between 2001 and 2011, 17,627 children and 5071 adolescents with ASD (ICD-9-CM code: 299) were identified from Taiwan’s National Health Insurance Research Database and assessed for major psychiatric comorbidities and parental psychiatric disorders. Compared with females with ASD, males with ASD were more likely to be diagnosed as having attention deficit hyperactivity disorder (relative risk [RR], 95% confidence interval [CI] 1.63, 1.51–1.75) and disruptive behavior disorder (1.38, 1.17–1.62) and less likely to be diagnosed as having schizophrenia (0.45, 0.36–0.56), bipolar disorder (0.58, 0.45–0.74), or intellectual disability (0.53, 0.49–0.58). Furthermore, compared with women, having a parental history of schizophrenia (RR, 95% CI 0.66, 0.49–0.89) or intellectual disability (0.34, 0.19–0.61) was less associated with ASD among men. However, the difference in ASD diagnosis between ICD-9-CM and ICD-10/11-CM systems may reflect the different, but surely overlapping, entity of ASD, which may limit the generalization of our results. Additional studies should be performed.
... There was no sex by diagnosis interaction. Females are more often required to have co-occurring intellectual disability or other support needs in order for autism to be recognized (Dworzynski et al., 2012), and thus these MA differences were expected. Because of this, CA and MA were controlled for in our statistical models (see Data Analysis). ...
Eye tracking has long been used to characterize differences in social attention between autistic and non-autistic children, but recent work has shown that these patterns may vary widely according to the biological sex of the participants and the social complexity and gender-typicality of the eye tracking stimuli (e.g., barbies vs. transformers). To better understand effects of sex, social complexity, and object gender-typicality on social and non-social gaze behavior in autism, we compared the visual attention patterns of 67 autistic (ASD) and non-autistic (NA) males (M) and females (F) (ASD M = 21; ASD F = 18; NA M = 14; NA F = 14) across four eye tracking paradigms varying in social complexity and object gender-typicality. We found consistency across paradigms in terms of overall attention and attention to social stimuli, but attention to objects varied when paradigms considered gender in their stimulus design. Children attended more to gendered objects, particularly when the gender-typicality of the object matched their assigned sex. These results demonstrate that visual social attention in autism is affected by interactions between a child's biological sex, social scene complexity, and object gender-typicality and have broad implications for the design and interpretation of eye tracking studies.
... However, the idea that males are more susceptible (due to higher testosterone) has been difficult to reconcile with the finding that autistic females have a higher disease burden, termed the female protective effect (Gockley et al., 2015;Robinson, Lichtenstein, Anckarsater, Happe, & Ronald, 2013). For example, females with similar degrees of impairment as males tend to have lower cognitive ability (Dworzynski, Ronald, Bolton, & Happe, 2012;Rivet & Matson, 2011;Van Wijngaarden-Cremers et al., 2014), implying that they carry more deleterious genetic variants and/or have an increased exposure to environmental risk factors. ...
Autism Spectrum Disorder (ASD) is an umbrella term for a group of neurodevelopmental disorders (NDD) which are behaviorally defined by the presence of difficulties with social communication, and behavioral rigidity and repetitiveness, including sensory disturbances. The overarching aim of this thesis was to improve the categorization of autism through the development of a theoretical framework and a multivariable classification method, and identify biomarkers which together would aid in the understanding of autism and be used in ASD classification.
Paper I presents a theoretical framework for the pathogenesis of ASD and other NDDs. The framework conceptualizes and operationalizes a three-factor model: (1) a disorder personality type that is specific for each NDD diagnostic category, but extends across the threshold for diagnosis and is not maladaptive in and of itself; (2) cognitive capacity as the ability of the individual to compensate for issues that may arise from of a “pronounced” personality type; (3) neuropathological burden which is conceptualized as the inhibition of neural and cognitive development resulting from the presence of neurodevelopmental risk factors. It is concluded that such a framework may contribute to an improved understanding of pathogenetic mechanisms underlying NDDs, including ASD.
Papers II-IV are based on a structural and functional brain imaging study of a group of adult males with ASD, and an age- and IQ-matched group of neurotypical controls. Paper II is a morphometric study that presents a multivariable classification method which showed up to 79% accuracy for diagnostic status, and outperformed machine learning algorithms on the same dataset. Paper III investigated the magnetoencephalographic source space activation in the right fusiform gyrus in response to faces and face-like objects and found only late post-stimulus group differences, potentially relating to differences in top-down cognitive mechanisms. Paper IV compared the change in occipital magnetoencephalographic power in the gamma range in response to moving stimuli and showed a relationship with self-reported sensory sensitivity across both the ASD and control groups.
In summary, the thesis presents a theoretical framework that proposes pathogenetic mechanisms for ASD and other NDDs, a simple classification method for multivariable categorization using quantitative data, and biomarkers for face processing and sensory sensitivity.
... Consequently, the characteristics described above and others related to autism are not always present in all autistic individuals. Their overall level of functioning can differ depending on several factors such as social support, psychiatric comorbidity, context, and intellectual ability of the autistic person (Dworzynski et al., 2012). ...
Lay abstract:
Transportation plays an essential role in daily life, allowing people to participate in the community and form social relationships. Many autistic people rely on public transportation to meet their mobility needs. However, research shows that it is not always easy for them to use it. The exact issues autistic individuals face when traveling with public transportation and how public transportation can be made more autism-friendly have yet to be researched. The current study allowed autistic individuals to express themselves regarding issues they face while traveling by public bus transportation, to raise awareness for making public transportation more autism-friendly. We interviewed 17 autistic individuals about their experiences riding the bus. Three main themes emerged from the results: creating predictability, limiting stimuli, and open and accessible communication. If transport companies take initiatives related to these themes, autistic people traveling by bus can have a more pleasant experience. Participants also described coping strategies for stressful or uncomfortable situations while using public bus transportation, such as using noise-cancelling headphones or digital applications for real-time route tracking, etc. These findings may lead to a more autism-friendly public transportation.
... This appears to be driven by discrete alterations in Introduction Autism is not a single disorder, but a spectrum of related disorders with a shared core of symptoms defined by deficits in communication, social reciprocity and repetitive, stereotypic behaviors. While previously thought to present an extreme sex/gender bias (four times more common among males than females) it is now established that this apparent bias is largely due to affected females being more capable of disguising their condition than affected males (Dworzynski et al., 2012;Kreiser and White, 2014;Mandic-Maravic et al., 2015;Hull et al., 2017;Ratto et al., 2018;Young et al., 2018). Currently, autism spectrum disorders (ASD) affects around 1 in 68 children around the world, a 35-fold increase since the earliest epidemiologic studies were conducted in the late 1960s and early 1970s. ...
Autism spectrum disorder (ASD) involves alterations in neural connectivity affecting cortical network organization and excitation to inhibition ratio. It is characterized by an early increase in brain volume mediated by abnormal cortical overgrowth patterns and by increases in size, spine density, and neuron population in the amygdala and surrounding nuclei. Neuronal expansion is followed by a rapid decline from adolescence to middle age. Since no known neurobiological mechanism in human postnatal life is capable of generating large excesses of frontocortical neurons, this likely occurs due to a dysregulation of layer formation and layer-specific neuronal migration during key early stages of prenatal cerebral cortex development. This leads to the dysregulation of post-natal synaptic pruning and results in a huge variety of forms and degrees of signal-over-noise discrimination losses, accounting for ASD clinical heterogeneities, including autonomic nervous system abnormalities and comorbidities. We postulate that sudden changes in environmental conditions linked to serotonin/kynurenine supply to the developing fetus, throughout the critical GW7 – GW20 (Gestational Week) developmental window, are likely to promote ASD pathogenesis during fetal brain development. This appears to be driven by discrete alterations in differentiation and patterning mechanisms arising from in utero RNA editing, favoring vulnerability outcomes over plasticity outcomes. This paper attempts to provide a comprehensive model of the pathogenesis and progression of ASD neurodevelopmental disorders.
... In addition to age, sex at birth was also found to be associated with team referral type, and girls were more often referred to APTs. This likely reflects longstanding difficulties in the field with accurately identifying autistic girls and women [24][25][26][27][28]. Girls with ASD are diagnosed later on average than boys [29]. ...
This paper describes a proposed model of diagnostic evaluation for autism spectrum disorder (ASD) at a large-scale ASD specialty center. Our center has implemented age-based diagnostic tracks within an interdisciplinary team evaluation approach to assessing ASD. Data were collected as part of a program evaluation and included responses from provider surveys as well as patient medical record reviews. The results from 803 patients were included. The diagnostic outcomes, time for evaluation, and appropriateness of referral were analyzed in patients referred to the Younger (n = 155) and Older (n = 648) diagnostic tracks. In 92.8% of cases referred to the clinic’s standard team evaluation model, the provider teams were able to make a diagnostic decision within the allotted evaluation time. The results from an additional diagnostic pathway, termed the Autism Psych Team (APT), within the older track were also presented. The intake providers had the option to triage older patients to this pathway when they anticipated that the patient might be diagnostically complex. Most patients (45.1%) triaged to the APT were referred due to psychiatric complexity. In 96% of APT cases, the APT providers felt the patient was an appropriate referral. Overall, these results suggest a method to efficiently triage patients to diagnostic models equipped to serve them within a high-volume ASD center.
... Likelihood for an autism diagnosis is increased in autistic female individuals presenting with additional problems. 39,40 It has therefore been suggested that diagnosed female individuals represent the extreme end of the autistic female population. 41 Consequently, autistic female individuals without such comorbidities may be missed and not diagnosed. ...
Importance
Psychiatric disorders are common among autistic children and adults. Little is known about sex differences in psychiatric disorders and hospitalization in early adulthood.
Objective
To examine sex differences in psychiatric diagnoses and hospitalizations in autistic compared with nonautistic young adults.
Design, Setting, and Participants
This population-based cohort study assessed all individuals born in Sweden between 1985 and 1997. A total of 1 335 753 individuals, including 20 841 autistic individuals (7129 [34.2%] female individuals), were followed up from age 16 through 24 years between 2001 and 2013. Analysis took place between June 2021 and August 2022.
Exposures
Autism was defined as having received at least 1 clinical diagnosis of autism based on the International Classification of Diseases .
Main Outcomes and Measures
The cumulative incidence of 11 psychiatric diagnoses up until age 25 years was estimated, and birth year–standardized risk difference was used to compare autistic female and male individuals directly. Sex-specific birth year–adjusted hazard ratios (HRs) with 95% CIs were calculated using Cox regression. Analyses were repeated for inpatient diagnoses to assess psychiatric hospitalization.
Results
Of 1 335 753 individuals included in this study, 650 314 (48.7%) were assigned female at birth. Autism was clinically diagnosed in 20 841 individuals (1.6%; 7129 [34.2%] female) with a mean (SD) age of 16.1 (5.1) years (17.0 [4.8] years in female individuals and 15.7 [5.2] years in male individuals) for the first recorded autism diagnosis. For most disorders, autistic female individuals were at higher risk for psychiatric diagnoses and hospitalizations. By age 25 years, 77 of 100 autistic female individuals and 62 of 100 autistic male individuals received at least 1 psychiatric diagnosis. Statistically significant standardized risk differences were observed between autistic female and male individuals for any psychiatric disorder (−0.18; 95% CI, −0.26 to −0.10) and specifically for anxiety, depressive, and sleep disorders. Risk differences were larger among autistic than nonautistic individuals. Compared with nonautistic same-sex individuals, autistic female individuals (HR range [95% CI], 3.17 [2.50-4.04.]-20.78 [18.48-23.37]) and male individuals (HR range [95% CI], 2.98 [2.75-3.23]-18.52 [17.07-20.08]) were both at increased risk for all psychiatric diagnoses. Any psychiatric hospitalization was statistically significantly more common in autistic female individuals (32 of 100) compared with autistic male individuals (19 of 100). However, both autistic female and male individuals had a higher relative risk for psychiatric hospitalization compared with nonautistic female and male individuals for all disorders (female individuals: HR range [95% CI], 5.55 [4.63-6.66]-26.30 [21.50-32.16]; male individuals: HR range [95% CI], 3.79 [3.22-4.45]-29.36 [24.04-35.87]).
Conclusions and Relevance
These findings highlight the need for profound mental health services among autistic young adults. Autistic female individuals, who experience more psychiatric difficulties at different levels of care, require increased clinical surveillance and support.
... There were no differences in scores on the phonological or speed dimensions, but girls were more impaired on the executive function dimension. These data support the notion that girls must show greater cognitive deficits for educational or health practitioners to notice their struggles (e.g., Dworzynski et al., 2012;Gaub & Carlson, 1997). They also suggest the biggest driver of problems for girls in our sample is performance-based executive function difficulties. ...
Fewer girls than boys are identified as struggling at school for suspected problems in attention, learning and/or memory. The objectives of this study were to: i) identify dimensions of cognition, behaviour and mental health in a unique transdiagnostic sample of struggling learners; ii) test whether these constructs were equivalent for boys and girls, and; iii) compare their performance across the dimensions. 805 school‐aged children, identified by practitioners as experiencing problems in cognition and learning, completed cognitive assessments, and parents/carers rated their behaviour and mental health problems. Three cognitive [Executive, Speed, Phonological], three behavioural [Cognitive Control, Emotion Regulation, Behaviour Regulation], and two mental health [Internalising, Externalising] dimensions distinguished the sample. Dimensions were structurally comparable between boys and girls, but differences in severity were present: girls had greater impairments on performance‐based measures of cognition; boys were rated as having more severe externalising problems. Gender biases to stereotypically male behaviours are prevalent among practitioners, even when the focus is on identifying cognitive and learning difficulties. This underscores the need to include cognitive and female‐representative criteria in diagnostic systems to identify girls whose difficulties could go easily undetected. Male and female phenotypes were characterised in a large transdiagnostic sample of children identified by practitioners as experiencing problems in cognition and learning, irrespective of diagnostic status. Dimensions of cognition, behaviour and mental health were structurally invariant between boys and girls, but cognitive problems were more severe in girls, and behavioural difficulties and externalising problems greater in boys.
... 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). This suggests that females may not be referred for diagnosis as often, or as early, as males. ...
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. 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.
... A recent meta-analysis indicates a male:female ratio of around 3-4:1 in clinical diagnoses (Loomes et al., 2017) and males report more autistic traits than females in the general population (see Ruzich et al., 2015, for a systematic review). This evidence for a male preponderance in autism diagnoses remains robust, despite growing evidence to suggest under-diagnosis of autism in females; for example, compared to males, females are diagnosed later (Begeer et al., 2013) and require more severe symptoms to be diagnosed (Dworzynski et al., 2012). However, even in studies that screen the population for autism-excluding studies that rely on existing clinical diagnoses, which can be biased against females-the ratio is still 3.25:1 (Loomes et al., 2017). ...
Abstract Background The male preponderance in autism diagnoses is widely reported, yet the psychological mechanisms (e.g., emotion processing) underlying this sex difference are poorly understood. Contributing to this gap in knowledge, most research has not been designed to investigate the intermediary (i.e., mediating) role of psychological processes in the relationship between sex and autism. Compounding this issue, concerns that autism measures are not reliably measuring the same constructs in males and females, and bias against females in clinical samples, make it difficult to investigate the psychological mechanisms underlying sex differences in autism. Methods Over two cross‐sectional studies, 1656 young adults from the general population reported their sex (as assigned at birth) and completed questionnaires indexing their emotion processing differences, as well as a measure of autistic traits suggested to tap into the same psychometric construct in males and females. Results Emotion processing differences mediated the relationship between sex and autistic traits, whereby being male was associated with more emotion processing differences, which were subsequently linked with greater levels of autistic traits. There remained a direct effect of sex on autistic traits after accounting for emotion processing differences. Conclusions Emotion processing differences are a potential psychological mechanism underpinning higher prevalence of autism in males, which may serve a compensatory function in females; for example, females may seek out emotion‐inducing experiences to help compensate for social‐emotional difficulties. These findings inform our understanding of autism‐related sex differences and have potential implications for clinical practice, where the need for sex‐specific support and diagnostic processes is increasingly being recognised.
... For example, Zucker et al. (2017) and Leef et al. (2019) found partial specificity for ASC traits in GD-referred children compared to referred controls, and May et al. (2017) found no specificity for gender incongruence in autistic youth compared to referred controls. The second mentioned methodological explanation refers to how the underdiagnosing of autistic women may affect the ASC-TGM link (Dworzynski et al., 2012;Robinson et al., 2013). An example of this is presented by Hisle-Gorman et al. (2019), who found that TGM was more prevalent in AFABs than in AMABs for neurotypical children but not for autistic children. ...
While research on the prevalence of co-occurring autism spectrum conditions (ASC) and trans gender modality (TGM) is available, less is known about the underlying mechanism of this association. Insight is needed to improve treatment of trans autistic people. This review provides an overview of theories on the ASC-TGM link and the available evidence for/against them published between January 2016 and October 2020. A systematic search was performed in PubMed, PsycINFO, Web of Science, and Scopus. This resulted in 36 studies, in which 15 theories were identified. Results indicate all theories lack substantial empirical support. Unlikely and promising theories were identified. The most promising theories were those on resistance to social norms and weakened sex differences. Future directions are provided.
... Other studies have also found that parents may rate autistic children differently by gender on standardized measures (Halladay et al., 2015;Ratto et al., 2017). Additionally, clinicians may also be impacted by issues of sex and gender in their perceptions of autistic individuals (Dworzynski, Ronald, Bolton, & Happ e, 2012;Kreiser & White, 2014). Utilizing outcome measurement tools that do not differentiate by gender may therefore impact our conclusions regarding treatment response in SSIs, for autistic girls in particular. ...
Social skills interventions (SSIs) are one of the most commonly utilized treatment approaches for autistic individuals across the lifespan, with the goal of mitigating negative impacts of the social communication differences associated with autism, including peer rejection, social isolation, and poor mental health. Thorough and accurate assessment of the efficacy of SSIs is critical in this population, given its widespread use in the autism community. The current paper serves as a scoping review of outcome measurement in SSI research in autistic populations. The strengths and limitations of measurement methodologies (e.g., questionnaires, observational measures) are considered, with commonly used outcome measures discussed in detail, including psychometric properties when available. The role of diversity factors, including race/ethnicity and gender, in relation to outcome measurement is reviewed. Overall, results of this review indicate a need for continued research in measurement to refine the field's ability to assess treatment response following SSIs. In particular, a greater understanding of how existing measures operate in autistic samples is needed. Further, given the historical heavy reliance on and limitations of questionnaire measures in SSI research, multi-method, multi-informant assessment approaches to outcome measurement are indicated for future SSI research.
... The Hosmer and Lemeshow test of Sensory Sensitivity, where females scored significantly higher than males (M Diff = 1.57). Discussion There is increasing acceptance and clinical recognition that autism may present differently in female children compared to male children (Attwood, 2012;Chawarska et al., 2016;Cridland et al., 2014;Dworzynski et al., 2012;Garnett et al., 2013;Wilkinson, 2008). Systematic ways to identify the apparently subtle and complex characteristics in autistic females are yet to be established, yet the need for clinicians and diagnosticians to be able to identify autism accurately and sensitively in both genders is paramount. ...
The Questionnaire for Autism Spectrum Conditions (Q-ASC; Attwood, Garnett & Rynkiewicz, 2011) is one of the few screening instruments that includes items designed to assess female-specific ASD-Level 1 traits. This study examined the ability of a modified version of the Q-ASC (Q-ASC-M; Ormond et al., 2018) to differentiate children with and without ASD-Level 1. Participants included 111 parents of autistic children and 212 parents of neurotypical children (5–12 years). Results suggested that the gendered behaviour, sensory sensitivity, compliant behaviours, imagination, and imitation subscales differentiated autistic females from neurotypical females. Compared to autistic males, autistic females had higher scores on gendered behaviour, sensory sensitivity, social masking, and imitation. Results are discussed in relation to early detection of autistic female children.
... Girls with ASD represent better speech behaviour and fewer abnormalities in communicational and social skills or show different repetitive and stereotyped activities than boys [116,117]. These social and communication capabilities, which are related to a feature of the female phenotype, can help women adapt to social situations, masking some of the main symptoms of ASD and leading to either misdiagnosis or late diagnosis of ASD in girls [118,119]. ...
Background
Autism spectrum disorder (ASD) is one of the serious developmental disorders that is usually diagnosed below the age of three years. Although the severity of the disease’s symptoms varies from patient to patient, the ability to communicate with others is affected in all forms of ASD. This study aimed to determine the prevalence of ASD in high-risk groups by continent.
Methods
The present study was conducted by systematic review and meta-analysis from 2008 to July 2021. Databases such as Science Direct, PubMed, Scopus, SID, Magiran, Web of Science (WoS), and Google Scholar from 2008 to July 2021 were searched to find related studies. Data were analysed using Comprehensive Meta-Analysis software (Version 2).
Results
A total of 74 studies with 30,212,757 participants were included in this study. The prevalence of ASD in the world was 0.6% (95% confidence interval: 0.4–1%). Subgroup analyses indicated that the prevalence of ASD in Asia, America, Europe, Africa and Australia was 0.4% (95% CI: 0.1–1), 1% (95% CI: 0.8–1.1), 0.5% (95% CI: 0.2–1), 1% (95% CI: 0.3–3.1), 1.7% (95% CI: 0.5–6.1) respectively.
Conclusion
ASD imposes a heavy health burden on communities around the world. Early detection of ASD can reduce the incidence of developmental disorders and improve patients’ communication skills. Therefore, health policymakers need to be aware of the prevalence and increasing trend of ASD to implement appropriate planning and interventions to reduce its consequences.
... Greater aetiologic overload may also be associated with greater severity; consequently, girls would be expected to show more severe symptoms. Nonetheless, girls may be better able to adapt or compensate, attenuating symptoms (Dworzynski, Ronald, Bolton & Happé, 2012;Robinson et al., 2013). ...
Data from the US National Survey of Children’s Health for years 2007, 2011–2012, 2016 and 2017, based on parent report, were analysed to determine the prevalence, severity and specific risk factors (bilingualism, comorbidity, age, sex) for speech disorders. The prevalence of speech disorders was lower for children who are bilingual, without comorbidity, older and females. Parents of children who are bilingual, with comorbidity and in the youngest and oldest age groups were more likely to report moderate or severe symptoms. Unlike prior reports based on smaller samples, findings indicate that bilingual children are not at higher risk for speech disorders.
Clinical trials in autism spectrum disorder (ASD) often rely on clinician rating scales and parent surveys to measure autism-related features and social behaviors. To aid in the selection of these assessments for future clinical trials, the Autism Biomarkers Consortium for Clinical Trials (ABC-CT) directly compared eight common instruments with respect to acquisition rates, sensitivity to group differences, equivalence across demographic sub-groups, convergent validity, and stability over a 6-week period. The sample included 280 children diagnosed with ASD (65 girls) and 119 neurotypical children (36 girls) aged from 6 to 11 years. Full scale IQ for ASD ranged from 60 to 150 and for neurotypical ranged from 86 to 150. Instruments measured clinician global assessment and autism-related behaviors, social communication abilities, adaptive function, and social withdrawal behavior. For each instrument, we examined only the scales that measured social or communication functioning. Data acquisition rates were at least 97.5% at T1 and 95.7% at T2. All scales distinguished diagnostic groups. Some scales significantly differed by participant and/or family demographic characteristics. Within the ASD group, most clinical instruments exhibited weak (≥ |0.1|) to moderate (≥ |0.4|) intercorrelations. Short-term stability was moderate (ICC: 0.5-0.75) to excellent (ICC: >0.9) within the ASD group. Variations in the degree of stability may inform viability for different contexts of use, such as identifying clinical subgroups for trials versus serving as a modifiable clinical outcome. All instruments were evaluated in terms of their advantages and potential concerns for use in clinical trials.
The number of students with ASD entering higher education is increasing. Ensuring that appropriate support structures are in place is imperative for their academic, social, and personal success. However, research on students with ASD often does not include student perspectives. Mismanagement of students’ transition into higher education institutions, coupled with a general lack of knowledge regarding their unique needs, can lead to anxiety, stigmatisation, bullying, and poor performance. The objective of this cross-sectional mixed-methods study was to explore the academic, social, institutional, and environmental challenges of students with ASD. Convenience sampling resulted in a sample of 74 students enrolled at a large, urban research university in the southeastern United States. Findings revealed significant differences between gender and use of support services, diagnosis disclosure, social engagement, and difficulties interacting with neurotypical people in an environment often perceived as ill-equipped to provide support. Consequently, potential institutional, programmatic, and policy implications emerged.
Despite emerging awareness of gender diversity in the autistic population, our understanding of autism remains limited to cisgender boys and men. We conducted a scoping review to better understand how structural language skills (i.e. syntax, semantics, narrative) differ across sex/gender within autism, and how gender diversity is incorporated in such research. Five research databases were searched for articles that have autistic participants who were not all male, present quantitative results separated by sex/gender, pertain to structural language, and were published between 2000 and 2021. Twenty-four articles met inclusion criteria. One article demonstrated awareness of gender diversity beyond the binary (i.e. girl, boy). Overall, autistic girls performed better than autistic boys but worse than nonautistic girls. Autistic girls are less likely to share the same quality and magnitude of structural language difficulties as autistic boys, which may contribute to their underdiagnosis. Comparing autistic girls to nonautistic girls is more likely to reveal areas of linguistic difference and potential intervention targets. This research provides further support for developing sex/gender-aware diagnostic and support measures for autism. Broader awareness of gender diversity, as both a concept and a prevalent feature of the autistic population, is essential for researchers to continue learning about sex/gender interactions in autism.
Lay abstract
Research about autism is mostly about boys and men, even though many autistic people are girls, women, and transgender/nonbinary. We wanted to learn more about how gender interacts with language skills in autistic people, so we reviewed existing research articles on this topic. We also wanted to know how this previous research talked about gender. Included articles had to measure language skills for autistic people of different genders. They also had to be published between 2000 and 2021. Twenty-four articles met these requirements. We found that autistic girls showed better language skills than autistic boys but worse skills than nonautistic girls. This may be one reason that autistic girls are underdiagnosed compared to autistic boys. If we compare autistic girls to nonautistic girls instead, we can see more language differences and possible areas to target in interventions. This study supports the need to create diagnostic and support measures for autism that take gender into account. Also, only one article mentioned autistic people who are transgender or nonbinary. Researchers who want to learn more about gender and autism need to understand gender diversity and recognize that many autistic people are transgender or nonbinary.
Aim: To explore how adolescent females, who have an autism spectrum diagnosis, make sense of this diagnosis and how autism diagnosis has affected and influenced their sense of self or identity.
Rationale: Educational Psychologists often work with children and young people who are diagnosed with autism and they can also be involved in the diagnostic process. Research findings will suggest what educational and health professionals may learn by listening to the voices of adolescent females who have an autism spectrum diagnosis.
Method: This was a qualitative study. Interpretative Phenomenological Analysis (IPA) was used as a methodological approach as this offers insight into how a person makes sense of a given phenomenon.
Findings/limitations: Research findings indicate that some participants were uncertain about the meaning of autism. Participants accepted, rejected or seemed unsure of their autism diagnoses. Some participants maintained a positive sense of self and achieved separateness from their diagnosis, but some participants experienced low self-esteem and depression which were linked to a sense of being different. This research included six participants, hence findings cannot be generalised.
Conclusion: It is suggested that some young people find autism spectrum diagnosis useful, or may find it useful at certain times, but for some young people this label can be unwanted and even at times harmful to personal identity.
Gender-typical play is observed throughout childhood for non-autistic children. However, there has been limited research into the gender typicality of autistic children’s play compared to that of non-autistic children. In a longitudinal population-based cohort, we compared gendered play behaviours in autistic and non-autistic children using standardised parent-report (30, 42 and 57 months) and child-report (8 years) data ( N = 11,251). We observed no difference in gendered play behaviours between girls with or without autism at any time point. Autistic and non-autistic boys did not differ in the gender typicality of their play when aged 30 months, but the play of autistic boys appeared less masculine than that of non-autistic boys (β = −1.1, 95% confidence interval = −2.1 to −0.2; and β = −2.6, 95% confidence interval = −4.7 to −0.5) at 42 and 57 months. Autistic boys also self-reported less masculine play behaviours than non-autistic boys at 8 years of age (β = −3.4, 95% confidence interval = −6.6 to −0.2). We found that autistic boys’ play was less gender typical than that of non-autistic boys in middle and later childhood. Our findings highlight the importance of examining gendered play behaviours in a developmental context and have relevance for understanding the development of gender identity in autism.
Lay abstract
Non-autistic children tend to show gendered patterns of play behaviours – boys are more likely to play with ‘masculine’ toys, and girls are more likely to play with ‘feminine’ toys. However, little is known about whether autistic children follow these patterns as well. We looked at the masculinity and femininity of autistic and non-autistic children’s play behaviours at multiple time points. Parents reported their children’s play behaviours at ages 30, 42 and 57 months, and children reported their own play behaviours at 8 years old. We found no difference between autistic and non-autistic girls, who both showed more feminine play behaviours as they got older. Autistic boys’ play behaviours were reported as less masculine than non-autistic boys at 42 and 57 months, and at 8 years old. We also found that non-autistic boys’ play tended to become more masculine as they got older, but this was not the case for autistic boys. Our findings suggest that differences in autistic and non-autistic boys’ play behaviours may develop at around 42 months old.
Despite increasing awareness for diagnosing autism spectrum disorder (ASD) and initiating treatments early in life, many children and adolescents continue to be diagnosed at a relatively older age. Focusing on children who first received an ASD diagnosis at age six or older, this study aimed to describe the symptoms that parents reported when ASD was diagnosed, follow the patients' clinical trajectory prior to receiving the diagnosis, and describe differences in symptoms and prior diagnoses between males and females cases. We included 258 children (205 males and 53 females) who were first diagnosed with autism at age 6-18 in 2017-2018. We retrieved demographic information, neurologic and developmental symptoms, diagnoses, and medications dispensing history from the children's electronic medical charts. The data indicated that prior diagnoses of language delays and attention deficit hyperactivity disorder were common among children with a late ASD diagnosis. Two thirds of the children were prescribed one or more medications to treat psychosocial and behavioral conditions before receiving a late ASD diagnosis. Difficulties in social relationships with peers were the leading reported symptoms by parents at the time of ASD diagnosis. Across these different domains, some differences were found between males and females, including a somewhat higher cognitive level in males, who were also more likely to present aggressive behavior.
Camouflaging involves the masking of autistic traits in social situations. While camouflaging may function as a potential barrier to the early diagnosis of autism, minimal research into camouflaging in autistic young people has been conducted. It is also important to evaluate the impact of camouflaging on the mental health of autistic children and adolescents. This study evaluated camouflaging in a sample of 359 female and 374 male autistic children and adolescents (4–17 years, 48.9% females). Findings indicated that camouflaging was a significant predictor of internalizing (i.e., anxiety, depression, somatic complaints) symptoms, when controlling for age, gender, and IQ. We also found evidence for some gender differences in camouflaging. Parents endorsed more autistic traits for females compared with males, whereas there were no differences in autistic traits across sex in the clinician‐administered assessment. There was also evidence for a relationship between age and camouflaging, with adolescents showing a larger discrepancy between parent and clinician reported autistic traits. This has implications for clinical assessment and future research and is important for understanding how best to support the mental health of autistic children and adolescents. Autistic people may mask or camouflage their autistic traits, particularly in social situations. There is a lack of information on camouflaging and its relation to mental health in young people. Our study found that older autistic adolescents were more likely to camouflage than children. We also found that camouflaging was associated with anxiety and depression in autistic children and adolescents.
This is a comprehensive, up-to-date and evidence-based review of women's mental health. It starts by considering the social and cultural contexts of women's lives today before addressing how developmental aspects pertain to mental health, exploring biological, evolutionary and psychosocial parameters. The heart of the book contains a series of chapters with a clinical emphasis. These aim to elucidate causal mechanisms for gender differences in mental disorder considering hormonal and environmental influences. The therapeutic implications of gender are then addressed in some detail, with a focus on inter-partner and other forms of violence, substance misuse, personality disorder and post-traumatic stress disorder. The book concludes with a detailed section considering psychosis and its sequelae in women and their families. The book's scope is intended to be broad, and it is aimed at a clinical audience including psychiatrists and general physicians, as well as mental health nurses, psychologists, social workers and occupational therapists.
Lay abstract:
Autistic females are often diagnosed later than males and are also more likely to be misdiagnosed with other conditions. Co-occurring conditions may also be diagnosed at the time of the assessment but their autism diagnosis is missed. The majority of research examining the parent experience of obtaining an autism diagnosis for their child has included predominantly or exclusively male children in their samples. This study examines the experiences of parents in obtaining an autism diagnosis for their daughters in Australia through interview data which allowed for an exploration of their lived experiences. Several of the parents reported positive feelings of excitement or curiosity in relation to the assessment process which are emotions that have not been reported in earlier studies. While recent research advances have improved our understanding of gender differences in autistic behaviours, the findings of this study suggest that some practitioners have obsolete knowledge which may lead to misdiagnosis or missed diagnosis in some females. Although the extent that these experiences are representative of parents in the wider community is unknown, the fact that they are still being reported in the present day suggests that a proportion of health professionals continue to practice with outdated conceptualisations of autism.
This paper arises from a UK research project, Playing A/Part, which explores the identities and experiences of autistic girls through creative practices and the implications for pedagogy. Funded by the Arts and Humanities Research Council, the project was an interdisciplinary collaboration using mixed-measures and a creative and participatory approach to co-produce new knowledge about this under-represented group. The research engaged 77 girls, aged 11 to 16, in a range of educational settings: Special Educational Needs, mainstream, and selective. The focus of discussion is the emergence of the labyrinth as a creative tool for learning and well- being and the implications for care and learning in neurodivergent contexts. After contextualising the study in relation to research on autism and gender, the paper explains how labyrinths offered an appropriate ethical, aesthetic, and sensory space for the creative pedagogic practices within the research programme. The paper also considers the implications of the study for higher education in terms of teaching neurodivergent learners, and research approaches to autism.
Background
Why is autism spectrum disorder (ASD) less prevalent among females than males? We constructed a statistical model for each of both existing classes of theories, and derived competing predictions for the essentialist expression hypothesis (females express less severe ASD traits so are diagnosed less) against the constructivist perception hypothesis (females’ expressions are socially perceived as less severe so are diagnosed less). Specifically, if the expression hypothesis is true, based on our models, diagnosed females should show less severe symptoms than their male counterparts, whereas the reverse should happen if the perception hypothesis is true.
Method
We conducted a meta-analysis (Data point N = 117,778 participant N = 16,209) on the differences in ASD symptom severity between females and males diagnosed with ASD, across age groups, IQ ranges, diagnostic criteria, and assessment tools.
Results
We found strong new evidence that ASD-diagnosed females and males differ little in symptom severity, even in the face of a found publication bias in favor of reporting males’ symptoms relative to females’ and the common understanding of ASD as a so-called male disorder.
Conclusions
We argue the finding supports both classes of theories, implying that they are similar in size, though different in directions, in creating sex differences in symptom severity for diagnosed individuals. The sex disparity in ASD prevalence likely results from both the biological expression of, and the social perception toward individuals’ ASD symptoms.
Background
Restricted and repetitive behaviors (RRBs) are increasingly being reported to limit the social adaptability of children with autism.
Method
Three databases (PubMed, PsycINFO, & Web of Science) were selected to conduct a systematic review to examine the consistency in which theoretical frameworks and instruments have been used to evaluate the presence and impact of RRBs in young children who may have ASD.
Results
Among the 36 articles examined in this review, young males represented 78.5% of the totality of participants (n = 62,339). Approximately one-third of the studies (n = 11) provided an explanation of RRBs through utilizing a theoretical framework. With respect to instrument utility, of the 35 instruments recorded, the Autism Diagnostic Observation Schedule (ADOS) was most frequently used.
Conclusions
The ADOS and the Autism Diagnostic Interview – Revised (ADI-R) are highly revered as they both are consistently referenced as “a gold standard.” However, due to the expensiveness of those assessments, they are underutilized, likely among vulnerable populations (e.g., economically disadvantaged, ethnic minorities, LGBTQ+), as many practitioners and parents cannot afford access to them.
This study examined differences in internalizing and externalizing behaviors between school-aged boys and girls diagnosed with autism spectrum disorder (ASD). Eighty-nine children between the ages of 8 and 16 years participated in this study: 17 girls (M = 11.5 years, SD = 2.3) and 72 boys (M = 11.3 years, SD = 2.2). Participants were matched on the Autism Diagnostic Observation Schedule, Second Edition and Full-Scale IQ (FSIQ > 64). The results indicated that, girls had higher reported instances of Bullying, less Anger Control, and poorer Emotional Self-Control than boys on the Behavior Assessment System for Children, Second Edition. Groups did not differ on subscales of the Social Communication Scale. While evidence of increased externalizing behaviors is less common in girls, there is evidence supporting these differing behaviors that warrant further research.
A preponderance of males with autism spectrum disorders (ASD) has been evident since the initial writings on the topic. This male predominance has consistently emerged in all ASD research to date in epidemiological as well as clinical populations. Despite this long recognized gender disparity in ASD, surprisingly there is a paucity of research addressing gender as it relates to core ASD symptom presentation. Gender differences may manifest with regard to symptom domains, severity, breadth, and so forth. The present review will discuss background (e.g., history, prevalence), assessment issues, gender differences in typically developing individuals in domains relevant to ASD, an in depth review of the literature base on the nature and etiology of gender differences in ASD, as well as future research directions and implications.
Although gender disparity in ASD has been long documented, research addressing gender related to core ASD symptomatology (e.g.,
domains, severity, breadth, etc.) is scant. The present research examined gender differences in ASD symptomatology in three
populations: infants and toddlers at risk for developmental disability, children and adolescents, and adults with intellectual
disability (ID). No significant gender differences in ASD symptoms were found in the infant/toddler or child/adolescent populations.
In the adult population, in participants with ID alone, females had higher endorsements of social (i.e., participation in
social games, sports, and activities; interest in other’s side of the conversation; and imitation) and communication (i.e.,
interest in other’s side of the conversation and reading body language) impairments compared to males. This study has considerable
implications in both the clinical and research realms as for diagnostic and assessment validity and prioritized treatment
needs for females with ASD, as well as stimulating a future research agenda (i.e., considerations such as cognitive ability,
comorbidity, course and age, qualitative symptom differences, social/environmental gender biases) in this area.
KeywordsAutism spectrum symptoms–Gender differences–Intellectual disability–Lifespan
The implications of the well known sex differences in the prevalence of autism spectrum disorder (ASD) are not well understood. The aim of this paper was to investigate whether these differences might be associated with differences in genetic liability. Individuals with ASD (970 families, 2,028 individuals) were recruited as part of the Autism Genome Project (AGP). The families were differentiated into families containing a female (either female-female or male-female) and those with only males. If the sex with the lower prevalence is associated with a greater genetic liability necessary to cross sex-specific thresholds, the males from female containing families should be more severely affected than males from male only families. Affected subjects from the different types of families with ASD were sampled and compared on the social reciprocity and repetitive behavior scores from the Autism Diagnostic Interview-Revised (ADI-R). In general, females had lower repetitive behavior scores than males. More importantly, males from female containing families had higher repetitive behavior scores than males from male-male families. No such differences were apparent on the social reciprocity scores. These results support the hypothesis of a multiple threshold model of genetic liability of ASD with females having a higher liability for affectation status, at least on the repetitive behavior dimension of the disorder. These data also support the dissociation of the different phenotypic dimensions of ASD in terms of its genetic architecture. The implications of these results for linkage and association studies are discussed.
Genetic factors play an important role in the etiology of both autism spectrum disorders and autistic traits. However, little is known about the etiologic consistency of autistic traits across levels of severity.
To compare the etiology of typical variation in autistic traits with extreme scoring groups (including top 1%) that mimicked the prevalence of diagnosed autism spectrum disorders in the largest twin study of autistic traits to date.
Twin study using phenotypic analysis and genetic model-fitting in the total sample and extreme scoring groups (top 5%, 2.5%, and 1%).
A nationally representative twin sample from the general population of England.
The families of 5968 pairs aged 12 years old in the Twins' Early Development Study. Main Outcome Measure Autistic traits as assessed by the Childhood Autism Spectrum Test.
Moderate to high heritability was found for autistic traits in the general population (53% for females and 72% for males). High heritability was found in extreme-scoring groups. There were no differences in heritability among extreme groups or between the extreme groups and the general population. A continuous liability shift toward autistic trait affectedness was seen in the cotwins of individuals scoring in the top 1%, suggesting shared etiology between extreme scores and normal variation.
This evidence of similar etiology across normal variation and the extremes has implications for molecular genetic models of autism spectrum disorders and for conceptualizing autism spectrum disorders as the quantitative extreme of a neurodevelopmental continuum.
Autism spectrum conditions (ASC) affect more males than females in the general population. However, within ASC it is unclear if there are phenotypic sex differences. Testing for similarities and differences between the sexes is important not only for clinical assessment but also has implications for theories of typical sex differences and of autism. Using cognitive and behavioral measures, we investigated similarities and differences between the sexes in age- and IQ-matched adults with ASC (high-functioning autism or Asperger syndrome). Of the 83 (45 males and 38 females) participants, 62 (33 males and 29 females) met Autism Diagnostic Interview-Revised (ADI-R) cut-off criteria for autism in childhood and were included in all subsequent analyses. The severity of childhood core autism symptoms did not differ between the sexes. Males and females also did not differ in self-reported empathy, systemizing, anxiety, depression, and obsessive-compulsive traits/symptoms or mentalizing performance. However, adult females with ASC showed more lifetime sensory symptoms (p = 0.036), fewer current socio-communication difficulties (p = 0.001), and more self-reported autistic traits (p = 0.012) than males. In addition, females with ASC who also had developmental language delay had lower current performance IQ than those without developmental language delay (p<0.001), a pattern not seen in males. The absence of typical sex differences in empathizing-systemizing profiles within the autism spectrum confirms a prediction from the extreme male brain theory. Behavioral sex differences within ASC may also reflect different developmental mechanisms between males and females with ASC. We discuss the importance of the superficially better socio-communication ability in adult females with ASC in terms of why females with ASC may more often go under-recognized, and receive their diagnosis later, than males.
Autism Spectrum Conditions (ASC) are much more common in males, a bias that may offer clues to the etiology of this condition. Although the cause of this bias remains a mystery, we argue that it occurs because ASC is an extreme manifestation of the male brain. The extreme male brain (EMB) theory, first proposed in 1997, is an extension of the Empathizing-Systemizing (E-S) theory of typical sex differences that proposes that females on average have a stronger drive to empathize while males on average have a stronger drive to systemize. In this first major update since 2005, we describe some of the evidence relating to the EMB theory of ASC and consider how typical sex differences in brain structure may be relevant to ASC. One possible biological mechanism to account for the male bias is the effect of fetal testosterone (fT). We also consider alternative biological theories, the X and Y chromosome theories, and the reduced autosomal penetrance theory. None of these theories has yet been fully confirmed or refuted, though the weight of evidence in favor of the fT theory is growing from converging sources (longitudinal amniocentesis studies from pregnancy to age 10 years old, current hormone studies, and genetic association studies of SNPs in the sex steroid pathways). Ultimately, as these theories are not mutually exclusive and ASC is multi-factorial, they may help explain the male prevalence of ASC.
Recent studies in epidemiology have highlighted the existence of children with autistic difficulties who remain undiagnosed. Other studies have identified 'access barriers' to clinics which include factors mediated by parents as well as health and education services. The purpose of this study was to examine whether social and demographic factors play a role in receiving a diagnosis of autistic spectrum disorder (ASD) independently of symptom severity.
Retrospective secondary analysis of a longitudinal UK cohort study, namely, the Avon Longitudinal Study of Parents and Children (ALSPAC).
With the severity of autistic traits held constant, boys were more likely to receive an ASD diagnosis than girls. Younger mothers and mothers of first-born children were significantly less likely to have children diagnosed with ASD. Maternal depression before and around the time of their children's autistic difficulties was associated with lack of diagnosis.
The study provides evidence that social as well as biological factors can influence whether children are brought to the clinic.
Although the symptoms of autism exhibit quantitative distributions in nature, estimates of recurrence risk in families have never previously considered or incorporated quantitative characterization of the autistic phenotype among siblings.
The authors report the results of quantitative characterization of 2,920 children from 1,235 families participating in a national volunteer register, with at least one child clinically affected by an autism spectrum disorder and at least one full biological sibling.
A traditionally defined autism spectrum disorder in an additional child occurred in 10.9% of the families. An additional 20% of nonautism-affected siblings had a history of language delay, one-half of whom exhibited autistic qualities of speech. Quantitative characterization using the Social Responsiveness Scale supported previously reported aggregation of a wide range of subclinical (quantitative) autistic traits among otherwise unaffected children in multiple-incidence families and a relative absence of quantitative autistic traits among siblings in single-incidence families. Girls whose standardized severity ratings fell above a first percentile severity threshold (relative to the general population distribution) were significantly less likely to have elicited community diagnoses than their male counterparts.
These data suggest that, depending on how it is defined, sibling recurrence in autism spectrum disorder may exceed previously published estimates and varies as a function of family type. The results support differences in mechanisms of genetic transmission between simplex and multiplex autism and advance current understanding of the genetic epidemiology of autism spectrum conditions.
Previous work suggests that most clinically significant language difficulties in children do not result from acquired brain lesions or adverse environmental experiences but from genetic factors that presumably influence early brain development. We conducted the first twin study of language delay to evaluate whether genetic and environmental factors at the lower extreme of delayed language are different from those operating in the normal range. Vocabulary at age two was assessed for more than 3000 pairs of twins. Group differences heritability for the lowest 5% of subjects was estimated as 73% in model-fitting analyses, significantly greater than the individual differences heritability for the entire sample (25%). This supports the view of early language delay as a distinct disorder. Shared environment was only a quarter as important for the language-delayed sample (18%) as for the entire sample (69%).
The article describes a pilot and follow-up study of the preliminary development of a new tool to screen for Asperger syndrome (AS) and related social and communication conditions (the Childhood Asperger Syndrome Test, CAST) in children aged 4-11 years, in a non-clinical setting. In the pilot study, parents of 13 children with AS and of 37 typically developing children completed the CAST. There were significant differences between the AS and typical sample means. The pilot was used to establish preliminary cut-off scores for the CAST. In the main study, parents of 1150 primary-school-age children were sent the CAST, and 174 took part in the full data analysis. Results suggest that compared with other tools currently available, the CAST may be useful for identifying children at risk for AS and related conditions, in a mainstream non-clinical sample. Further research is ongoing.
The Childhood Asperger Syndrome Test (CAST) is a parental questionnaire to screen for autism spectrum conditions. In this validation study, the CAST was distributed to 1925 children aged 5-11 in mainstream Cambridgeshire schools. A sample of participants received a full diagnostic assessment, conducted blind to screen status. The sensitivity of the CAST, at a designated cut-point of 15, was 100 percent, the specificity was 97 percent and the positive predictive value was 50 percent, using the group's consensus diagnosis as the gold standard. The accuracy indices varied with the case definition used. The sensitivity of the accuracy statistics to case definition and to missing data was explored. The CAST is useful as a screening test for autism spectrum conditions in epidemiological research. There is not currently enough evidence to recommend the use of the CAST as a screening test within a public health screening programme in the general population.
The Twins' Early Development Study (TEDS) is a large-scale longitudinal study of twins from early childhood through adolescence. Since its conception, TEDS has had as its focus the study of problematic development within the context of normal variation, mainly in the development of language, cognitive and academic abilities and behavior problems from multivariate quantitative and molecular genetic perspectives. TEDS twins have been assessed at 2, 3, 4, 7, 9, 10 and (currently) 12 years of age, and DNA collected from more than 12,000 children. Identified from birth records of twins born in the United Kingdom between 1994 and 1996, more than 15,000 pairs of twins originally enrolled in TEDS, and well over 13,000 pairs--representative of the U.K. population--remain involved in the study to date. Similar to many other twin and adoption studies, TEDS data indicate that both genetic and environmental influences are important in nearly all areas of behavioral development. Multivariate genetic analyses allow researchers to go beyond this basic nature-nurture question, and TEDS results suggest that, especially in the area of learning abilities and disabilities, genes are generalists and environments are specialists. That is, genes largely contribute to similarity in performance within and between learning abilities and disabilities and across age, whereas the environment contributes to differences in performance. Quantitative genetic findings such as these chart the course for molecular genetic research. The TEDS dataset is proving valuable in genome-wide association research that tries to identify some of the many genes responsible for the ubiquitous heritability of behavior.
The self-report version of the Strengths and Difficulties Questionnaire (SDQ) was administered to two samples of 11-16 year olds: 83 young people in the community and 116 young people attending a mental health clinic. The questionnaire discriminated satisfactorily between the two samples. For example, the clinic mean for the total difficulties score was 1.4 standard deviations above the community mean, with clinic cases being over six times more likely to have a score in the abnormal range. The correlations between self-report SDQ scores and teacher- or parent-rated SDQ scores compared favourably with the average cross-informant correlations in previous studies of a range of measures. The self-report SDQ appears promising and warrants further evaluation.
Sex differences have been found amongst toddlers and young children with autism spectrum disorder (ASD). We investigated the presence and stability of these ASD sex differences throughout childhood and adolescence. Participants (N = 325, 52 females; aged 3-18 years) consecutively received an ASD diagnosis at a clinic for assessing high-functioning ASD (mean verbal IQ = 92.6). There were no IQ sex differences. By parent report and direct observation, females had less repetitive stereotyped behaviour (RSB), with male-equivalent levels of social and communication impairment. Teachers reported males with ASD as having greater externalising and social problems than females. The female phenotype we describe was stable across our sample's age range. Their milder RSBs and less severe difficulties at school may lead to under-recognition of ASD in females.
Identifying the causal processes involved in theory of mind (ToM) development during childhood is an important goal for social neuroscience. This study aimed to investigate, for the first time, the extent to which individual differences in ToM are influenced by genes and environment in middle childhood, and to assess how ToM is linked to autistic-like behaviors and verbal ability. Over 600 9-year-old twin pairs from a subsample of the Twins Early Development Study were assessed on an advanced test of ToM and on verbal ability. Parents, teachers, and the children themselves provided ratings of the twins' autistic traits (social impairments, communication impairments, and restricted repetitive behaviors and interests), using an abbreviated version of the Childhood Asperger Syndrome Test. Autistic traits, particularly communication impairments, significantly predicted ToM performance. Verbal ability showed the strongest phenotypic association with ToM. Twin model-fitting was employed to investigate the causes of this association. Much of the variation in ToM ability and in verbal ability was explained by environmental influences, with modest heritabilities for each, but their association was almost fully explained by shared genetic effects. The possible neural basis underlying this association is discussed.
Factor structure and relationship between core features of autism (social impairments, communication difficulties, and restricted, repetitive behaviours or interests (RRBIs)) were explored in 189 children from the Twins Early Development Study, diagnosed with autistic spectrum disorders (ASDs) using the Development and Wellbeing Assessment (DAWBA; Goodman et al. in J Child Psychol Psyc 41:645-655, 2000). A bottom-up approach (analysis 1) used principal component factor analysis of DAWBA items indicating five factors, the first three mapping on the triad. In analysis 2, applying top-down DSM-IV criteria, correlations between domains were modest, strongest between social and communication difficulties. Cross-twin cross-trait correlations suggested small shared genetic effects between RRBIs and other symptoms. These findings from a clinical sample of twins indicate a fractionation of social/communicative and RRBI symptoms in ASD.
This article reviews the results of 43 studies published since 1966 that provided estimates for the prevalence of pervasive developmental disorders (PDDs), including autistic disorder, Asperger disorder, PDD not otherwise specified, and childhood disintegrative disorder. The prevalence of autistic disorder has increased in recent surveys and current estimates of prevalence are around 20/10,000, whereas the prevalence for PDD not otherwise specified is around 30/10,000 in recent surveys. Prevalence of Asperger disorder is much lower than that for autistic disorder and childhood disintegrative disorder is a very rare disorder with a prevalence of about 2/100,000. Combined all together, recent studies that have examined the whole spectrum of PDDs have consistently provided estimates in the 60-70/10,000 range, making PDD one of the most frequent childhood neurodevelopmental disorders. The meaning of the increase in prevalence in recent decades is reviewed. There is evidence that the broadening of the concept, the expansion of diagnostic criteria, the development of services, and improved awareness of the condition have played a major role in explaining this increase, although it cannot be ruled out that other factors might have also contributed to that trend.
Comparisons were made between male and female children with autism, 384 boys and 91 girls, aged 3 years to 8 years, on nonverbal measures of intelligence, adaptive functioning, receptive vocabulary, perception, and eye-hand integration, and on ratings of affect, play, and relating and human interest. Males showed more advanced performances on eye-hand integration and perception skills on the Psychoeducational Profile (PEP) and had higher nonverbal IQs social quotients, and Peabody Picture Vocabulary Test (PPVT) IQs than females. When nonverbal IQ was controlled, the main effect of sex remained; however, sex differences on PPVT scores and on eye-hand integration and perception scale disappeared. Males showed more unusual visual responses and less appropriate, more stereotypic play than females. These results are discussed in terms of hypotheses concerning sex differences in genetic thresholds and in hemispheric lateralization.
A novel behavioural screening questionnaire, the Strengths and Difficulties Questionnaire (SDQ), was administered along with Rutter questionnaires to parents and teachers of 403 children drawn from dental and psychiatric clinics. Scores derived from the SDQ and Rutter questionnaires were highly correlated; parent-teacher correlations for the two sets of measures were comparable or favoured the SDQ. The two sets of measures did not differ in their ability to discriminate between psychiatric and dental clinic attenders. These preliminary findings suggest that the SDQ functions as well as the Rutter questionnaires while offering the following additional advantages: a focus on strengths as well as difficulties; better coverage of inattention, peer relationships, and prosocial behaviour; a shorter format; and a single form suitable for both parents and teachers, perhaps thereby increasing parent-teacher correlations.
The Development and Well-Being Assessment (DAWBA) is a novel package of questionnaires, interviews, and rating techniques designed to generate ICD-10 and DSM-IV psychiatric diagnoses on 5-16-year-olds. Nonclinical interviewers administer a structured interview to parents about psychiatric symptoms and resultant impact. When definite symptoms are identified by the structured questions, interviewers use open-ended questions and supplementary prompts to get parents to describe the problems in their own words. These descriptions are transcribed verbatim by the interviewers but are not rated by them. A similar interview is administered to 11-16-year-olds. Teachers complete a brief questionnaire covering the main conduct, emotional, and hyperactivity symptoms and any resultant impairment. The different sorts of information are brought together by a computer program that also predicts likely diagnoses. These computer-generated summary sheets and diagnoses form a convenient starting point for experienced clinical raters, who decide whether to accept or overturn the computer diagnosis (or lack of diagnosis) in the light of their review of all the data, including transcripts. In the present study, the DAWBA was administered to community (N = 491) and clinic (N = 39) samples. There was excellent discrimination between community and clinic samples in rates of diagnosed disorder. Within the community sample, subjects with and without diagnosed disorders differed markedly in external characteristics and prognosis. In the clinic sample, there was substantial agreement between DAWBA and case note diagnoses, though the DAWBA diagnosed more comorbid disorders. The use of screening questions and skip rules greatly reduced interview length by allowing many sections to be omitted with very little loss of positive information. Overall, the DAWBA successfully combined the cheapness and simplicity of respondent-based measures with the clinical persuasiveness of investigator-based diagnoses. The DAWBA has considerable potential as an epidemiological measure, and may prove to be of clinical value too.
The Twins Early Development Study (TEDS) focuses on the early development of the three most common psychological problems in childhood: communication disorders, mild mental impairment and behavior problems. The TEDS twins were assessed longitudinally at 2, 3, 4 and 7 years of age in order to investigate genetic and environmental contributions to change and continuity in language and cognitive development; it is multivariate in order to examine the origins of comorbidity; and it uses a large sample in order to study abnormal development in the context of normal development. The twins were identified from birth records of twins born in the UK in 1994-96. More than 15,000 pairs of twins have been enrolled in TEDS and the participating families are representative of the UK. The measures at 2, 3 and 4 years are administered by parents. At 7 years, children are assessed for language and cognitive development using telephone testing, parents and children are interviewed about behavior problems, and teachers also assess behavior problems as well as academic achievement. One set of findings is that the same genes largely contribute to both language and cognitive problems and the same genes affect normal and abnormal development, a result that suggests that general impairment may be a better target for genetic research than specific language impairment independent of nonverbal cognitive problems. DNA has been obtained so far for more than 4000 pairs and is being used initially in molecular genetic studies of language problems and hyperactivity.
The self-report version of the Strengths and Difficulties Questionnaire (SDQ) was administered to two samples of 11-16 year olds: 83 young people in the community and 116 young people attending a mental health clinic. The questionnaire discriminated satisfactorily between the two samples. For example, the clinic mean for the total difficulties score was 1.4 standard deviations above the community mean, with clinic cases being over six times more likely to have a score in the abnormal range. The correlations between self-report SDQ scores and teacher--or parent rated SDQ scores--compared favourably with the average cross informant correlations in previous studies of a range of measures. The self-report SDQ appears promising and warrants further evaluation.
Two types of behaviours shown in children - those reflecting social impairment and nonsocial obsessive repetitive behaviours - are central to defining and diagnosing autism spectrum disorders (ASDs). Parent and teacher data on social and nonsocial behaviours were obtained from a community sample of >3000 7-year-old twin pairs. Social and nonsocial behaviours were only modestly correlated, and it was found that some individuals had extreme scores on either social or nonsocial scales but not both. Genetic model-fitting showed that social and nonsocial behaviours are both highly heritable, but their genetic overlap is modest, with most of the genetic influence being specific to either social or nonsocial behaviours. Considering these behaviours separately might help clarify gene-brain-behaviour pathways in future research.
This study investigated the etiology of autistic-like traits in the general population and the etiological overlap between the three aspects of the triad of impairments (social impairments, communication impairments, restricted repetitive behaviors and interests) that together define autism spectrum disorders.
Parents of 3,400 8-year-old twin pairs from the Twins Early Development Study completed the Childhood Asperger Syndrome Test, a screening instrument for autism spectrum symptoms in mainstream samples. Genetic model-fitting of categorical and continuous data is reported.
High heritability was found for extreme autistic-like traits (0.64-0.92 for various cutoffs) and autistic-like traits as measured on a continuum (0.78-0.81), with no significant shared environmental influences. All three subscales were highly heritable but showed low covariation. In the genetic modeling, distinct genetic influences were identified for the three components.
These results suggest the triad of impairments that define autism spectrum disorders is heterogeneous genetically. Molecular genetic research examining the three components separately may identify different causal pathways for the three components. The analyses give no indication that different genetic processes affect extreme autistic impairments and autistic impairments as measured on a continuum, but this can only be directly tested once genes are identified.
To investigate children selected from a community sample for showing extreme autistic-like traits and to assess the degree to which these individual traits--social impairments (SIs), communication impairments (CIs), and restricted repetitive behaviors and interests (RRBIs)--are caused by genes and environments, whether all of them are caused by the same genes and environments, and how often they occur together (as required by an autism diagnosis).
The most extreme-scoring 5% were selected from 3,419 8-year-old pairs in the Twins Early Development Study assessed on the Childhood Asperger Syndrome Test. Phenotypic associations between extreme traits were compared with associations among the full-scale scores. Genetic associations between extreme traits were quantified using bivariate DeFries-Fulker extremes analysis.
Phenotypic relationships between extreme SIs, CIs, and RRBIs were modest. There was a degree of genetic overlap between them, but also substantial genetic specificity.
This first twin study assessing the links between extreme individual autistic-like traits (SIs, CIs, and RRBIs) found that all are highly heritable but show modest phenotypic and genetic overlap. This finding concurs with that of an earlier study from the same cohort that showed that a total autistic symptoms score at the extreme showed high heritability and that SIs, CIs, and RRBIs show weak links in the general population. This new finding has relevance for both clinical models and future molecular genetic studies.
Evidence that autistic traits show the same etiology in the general population and at the quantitative extremes (5%, 2.5%, and 1%) Arch Gen Psychiatry
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Robinson EB, Koenen KC, McCormick MC. Evidence that autistic traits show the same etiology in the general population and at the quantitative extremes (5%, 2.5%, and 1%). Arch Gen Psychiatry. 2011;68:1113-1121.
61 children were identified to receive DAWBA because of parental report of an existing ASD (autism, Asperger syndrome, atypical autism/PDD-NOS) diagnosis (for the twin or cotwin), and either lacked CAST data (seven girls, 31 boys), or had CAST scores below 15 (two girls, 21 boys
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However, 61 children were identified to receive DAWBA because of parental report of an existing ASD (autism, Asperger syndrome, atypical autism/PDD-NOS) diagnosis (for the twin or cotwin), and either lacked CAST data (seven girls, 31 boys), or had CAST scores below 15 (two girls, 21 boys; all but two with CAST scores 9 –14).
Medical world accused of missing many cases of girls with Asperger's syndrome
- J Gould
Gould J. Medical world accused of missing many cases of girls with Asperger's syndrome. London, UK: The Observer, April 12, 2009.
Medical world accused of missing many cases of girls with Asperger's syndrome. London, UK: The Observer
- J Gould
Gould J. Medical world accused of missing many cases of girls
with Asperger's syndrome. London, UK: The Observer, April 12,
2009.