Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability

Szatmári, Péter; Liu, Xiao Qing; Goldberg, Jeremy; Zwaigenbaum, Lonnie; Paterson, Andrew D.; Woodbury‐Smith, Marc; Georgiades, Stelios; Duku, Eric; Thompson, Ann

doi:10.1002/ajmg.b.31238

Cited by 165 publications

(162 citation statements)

References 41 publications

Supporting

Mentioning

141

Contrasting

Unclassified

Order By: Relevance

“…Sex differences in the typical population were also attenuated in males and females with ASD ( Baron-Cohen et al, 2014), which is in line with a recent meta-analysis revealing only minor differences between ASD males and ASD females in the domain of social behavior and communication (Van Wijngaarden-Cremers et al, 2014). In the domain of repetitive and restricted behaviors on the other hand, reductions in females compared to males have been consistently reported (Mandy et al, 2012;Szatmari et al, 2012;Frazier et al, 2014;Van Wijngaarden-Cremers et al, 2014).…”

Section: Introductionsupporting

confidence: 85%

Sex differences in autism: a resting-state fMRI investigation of functional brain connectivity in males and females

Alaerts

Swinnen

Wenderoth

2016

Social Cognitive and Affective Neuroscience

150

144

View full text Add to dashboard Cite

Autism spectrum disorders (ASD) are far more prevalent in males than in females. Little is known however about the differential neural expression of ASD in males and females. We used a resting-state fMRI-dataset comprising 42 males/ 42 females with ASD and 75 male/75 female typical-controls to examine whether autism-related alterations in intrinsic functional connectivity are similar or different in males and females, and particularly whether alterations reflect 'neural masculinization', as predicted by the Extreme Male Brain theory. Males and females showed a differential neural expression of ASD, characterized by highly consistent patterns of hypo-connectivity in males with ASD (compared to typical males), and hyper-connectivity in females with ASD (compared to typical females). Interestingly, patterns of hyper-connectivity in females with ASD reflected a shift towards the (high) connectivity levels seen in typical males (neural masculinization), whereas patterns of hypo-connectivity observed in males with ASD reflected a shift towards the (low) typical feminine connectivity patterns (neural feminization). Our data support the notion that ASD is a disorder of sexual differentiation rather than a disorder characterized by masculinization in both genders. Future work is needed to identify underlying factors such as sex hormonal alterations that drive these sex-specific neural expressions of ASD.

show abstract

Section: Introductionsupporting

confidence: 85%

Sex differences in autism: a resting-state fMRI investigation of functional brain connectivity in males and females

Alaerts

Swinnen

Wenderoth

2016

Social Cognitive and Affective Neuroscience

150

144

View full text Add to dashboard Cite

show abstract

“…However, there is a great deal of literature concerning the varying profile of autism as expressed by gender differences and the vast majority of studies have been conducted with predominantly male samples (Bell et al 2005). Furthermore, the available findings on the differences in clinical profiles between males and females with ASD have J Autism Dev Disord (2015) 45:2046-2055 2049 Table 1 ADOS severity score, GMDS-ER and VABS-SF at T0 and T1 Autism Dev Disord (2015) 45:2046-20552051 shown contrasting results (Carter et al 2007;Banach et al 2009;Andersson et al 2013;Van Wijngaarden-Cremers et al 2013;Hofvander et al 2009;Lugnegard et al 2011;Matson and Nebel-Schwalm 2007;Park et al 2012;Simonoff et al 2008;Lai et al 2011;Mayes and Calhoun 2011;Zwaigenbaum et al 2012;Mandy et al 2012;Szatmari et al 2012;Donna et al 2013). On the one hand, most studies found no gender differences on social behaviors or communication nor on RRB (Carter et al 2007;Banach et al 2009;Andersson et al 2013;Hofvander et al 2009;Lugnegard et al 2011;Matson and Nebel-Schwalm 2007;Park et al 2012;Simonoff et al 2008;Lai et al 2011;Mayes and Calhoun 2011;Zwaigenbaum et al 2012;Mandy et al 2012).…”

Section: Discussionmentioning

confidence: 99%

“…Most studies failed to find any differences in the core symptoms of ASD between males and females (Carter et al 2007;Banach et al 2009;Andersson et al 2013;Mayes and Calhoun 2011;Zwaigenbaum et al 2012;Mandy et al 2012;Szatmari et al 2012;Donna et al 2013). On the other hand, a meta-analysis of 20 studies investigating gender differences in ASD reported few differences in symptom severity between males and females.…”

Section: Introductionmentioning

confidence: 99%

Longitudinal comparison between male and female preschool children with autism spectrum disorder

Postorino

Fatta

Peppo

et al. 2015

J Autism Dev Disord

View full text Add to dashboard Cite

Epidemiological studies have highlighted a strong male bias in autism spectrum disorder (ASD), however few studies have examined gender differences in autism symptoms, and available findings are inconsistent. The aim of the present study is to investigate the longitudinal gender differences in developmental profiles of 30 female and 30 male age-matched preschool children with ASD. All the children underwent a comprehensive evaluation at T0 and at T1. Our results have shown no significant interaction between time and gender for predicting autism symptoms, developmental quotient, parental stress, children's adaptive skills and behavior problems. Shedding light on the developmental trajectories in ASD could help clinicians to recognize children with ASD at an earlier age and contribute to the development of appropriate treatments.

show abstract

“…Several studies have shown that first-degree relatives of autistic females have more ASD symptoms than first-degree relatives of autistic males [30][31][32]. Nevertheless, these findings have been contradicted, with one study showing no greater likelihood of ASD amongst relatives of autistic females [33].…”

Section: Female Protective Effectmentioning

confidence: 99%

Protective Effect or Missed Diagnosis? Females with Autism Spectrum Disorder

Hull

Mandy

2017

Future Neurol.

View full text Add to dashboard Cite

Autism Spectrum Disorder (ASD) has historically been diagnosed more frequently in males than females. One explanation for this is the 'female protective effect': that there is something inherent in being female that makes girls and women less susceptible to ASD.Another possibility is that ASD is under-diagnosed in girls and women, due to the existence of a 'female autism phenotype', which is not well captured by current, male-biased diagnostic criteria. To evaluate the 'female protective effect' and 'female autism phenotype' hypotheses, this narrative review describes recent developments exploring the genetic underpinning and behavioural expression of ASD in females. We then look at ways to better identify females with ASD who may be missed under the current diagnostic criteria. KeywordsAutism, Autism Spectrum Disorders, Gender Differences, Sex Differences, Genetics, Diagnosis, Person-Environment Fit IntroductionAutism Spectrum Disorder (ASD) is a group of neurodevelopmental conditions characterised by deficits in social communication and reciprocity, and by restricted and repetitive interests and behaviours 1 . ASD is the current term used to integrate the previously separate diagnostic categories of autistic disorder, Asperger's disorder, childhood disintegrative disorder and pervasive developmental disorder -not otherwise specified (aka 'atypical autism' [2]). ASD is a lifelong condition that is present from birth. Although adult diagnosis is possible, symptoms must be reported as present from early developmental stages in order for the 1 In line with preferences from a majority of the autism community [1], we use identity-first language (e.g. 'autistic person') to refer to individuals with an ASD throughout this paper, while recognising that others might prefer person-first language (e.g. 'person with autism'). Gender differences in diagnosisASD affects approximately one to two per cent of the population [3,4], and is much more likely to be diagnosed in males than in females. Gender ratios in diagnosis vary depending on the country, cohort, and characteristics of those included, but average ratios are reported at around four males for every one female [3][4][5]. However, when looking at those individuals with intellectual disability, the male-to-female ratio narrows significantly to around two-toone [6]. In addition, population-based studies, which screen all participants in order to identify cases regardless of whether they have already been diagnosed by local services, suggest that the male-to-female ratio is closer to 3:1 [7,8]. This is in contrast to the average of around 4-5:1 generally reported in studies based on clinically-diagnosed cases [9]. The fact that a lower proportion of females are found in clinical samples than in community-based, epidemiological samples suggests that there is a bias against autistic girls and women coming to clinical attention. This bias may have existed from the very first conceptions of ASD; only 3 of 11 children in Kanner's original cases were female, and no gi...

show abstract

Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability

Cited by 165 publications

References 41 publications

Sex differences in autism: a resting-state fMRI investigation of functional brain connectivity in males and females

Sex differences in autism: a resting-state fMRI investigation of functional brain connectivity in males and females

Longitudinal comparison between male and female preschool children with autism spectrum disorder

Protective Effect or Missed Diagnosis? Females with Autism Spectrum Disorder

Contact Info

Product

Resources

About