scholarly journals Sex differences along the Autism Continuum: A twin study of brain structure

2018 ◽  
Author(s):  
Élodie Cauvet ◽  
Annelies van’t Westeinde ◽  
Roberto Toro ◽  
Ralf Kuja-Halkola ◽  
Janina Neufeld ◽  
...  
Keyword(s):  
Sex Differences ◽  
Surface Area ◽  
Twin Pair ◽  
Autistic Traits ◽  
Monozygotic Twin ◽  
Autism Spectrum ◽  
Brain Morphology ◽  
Protective Mechanisms ◽  
Twin Design ◽  
Structural Brain

ABSTRACTFemales might possess protective mechanisms regarding autism spectrum disorder (ASD) and require a higher detrimental load, including structural brain alterations, before developing clinically relevant levels of autistic traits. This study examines sex differences in structural brain morphology in autism and autistic traits using a within-twin pair approach. Twin design inherently controls for shared confounders and enables the study of gene-independent neuroanatomical variation. N=148 twins (62 females) from 49 monozygotic and 25 dizygotic same-sex pairs were included. Participants were distributed along the whole continuum of autism including twin pairs discordant and concordant for clinical ASD. Regional brain volume, surface area and cortical thickness were computed. Within-twin pair increases in autistic traits were related to decreases in cortical volume and surface area of temporal and frontal regions specifically in female twin pairs, in particular regions involved in social communication, while only two regions were associated with autistic traits in males. The same pattern was detected in the monozygotic twin pairs only. Thus, non-shared environmental factors seem to impact female more than male cerebral architecture. Our results are in line with the hypothesis of a female protective effect in autism and highlights the need to study ASD in females separately from males.

scholarly journals The social brain in female autism: a structural imaging study of twins

2020 ◽  
Vol 15 (4) ◽  
pp. 423-436
Author(s):  
Élodie Cauvet ◽  
Annelies van’t Westeinde ◽  
Roberto Toro ◽  
Ralf Kuja-Halkola ◽  
Janina Neufeld ◽  
...  
Keyword(s):  
Sex Differences ◽  
Social Cognition ◽  
Brain Structure ◽  
Imaging Study ◽  
Autistic Traits ◽  
Brain Regions ◽  
Autism Spectrum ◽  
Social Brain ◽  
Twin Design ◽  
The Social

Abstract A female advantage in social cognition (SoC) might contribute to women’s underrepresentation in autism spectrum disorder (ASD). The latter could be underpinned by sex differences in social brain structure. This study investigated the relationship between structural social brain networks and SoC in females and males in relation to ASD and autistic traits in twins. We used a co-twin design in 77 twin pairs (39 female) aged 12.5 to 31.0 years. Twin pairs were discordant or concordant for ASD or autistic traits, discordant or concordant for other neurodevelopmental disorders or concordant for neurotypical development. They underwent structural magnetic resonance imaging and were assessed for SoC using the naturalistic Movie for the Assessment of Social Cognition. Autistic traits predicted reduced SoC capacities predominantly in male twins, despite a comparable extent of autistic traits in each sex, although the association between SoC and autistic traits did not differ significantly between the sexes. Consistently, within-pair associations between SoC and social brain structure revealed that lower SoC ability was associated with increased cortical thickness of several brain regions, particularly in males. Our findings confirm the notion that sex differences in SoC in association with ASD are underpinned by sex differences in brain structure.

scholarly journals Examining the association between childhood autistic traits and adolescent hypomania: a longitudinal twin study

2021 ◽  
pp. 1-10
Author(s):  
Mark J. Taylor ◽  
Angelica Ronald ◽  
Joanna Martin ◽  
Sebastian Lundström ◽  
Georgina M. Hosang ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Large Population ◽  
Autistic Traits ◽  
Evidence Base ◽  
Population Based ◽  
Autism Spectrum ◽  
Autistic Trait ◽  
Structured Interviews ◽  
Twin Design ◽  
Longitudinal Twin Study

Abstract Background There is evidence that autism spectrum disorders (ASDs) co-occur with bipolar disorder (BD) relatively frequently. Individuals with BD often report symptoms of mania and hypomania during adolescence, prior to the age of onset for BD. It is unknown whether these symptoms are associated with ASDs. We examined whether diagnoses of ASDs and autistic traits were associated with hypomania in a large, population-based Swedish twin sample. Methods Parental structured interviews assessed autistic traits, and were used to assign screening diagnoses of ASDs, when twins were aged 9 or 12 (N = 13 533 pairs). Parents then completed questionnaires assessing hypomania when the twins were aged 15 and 18 (N = 3852 pairs at age 15, and 3013 pairs at age 18). After investigating the phenotypic associations between these measures, we used the classical twin design to test whether genetic and environmental influences on autistic traits influence variation in adolescent hypomania. Results Autistic traits and ASD diagnoses in childhood were associated with elevated scores on the measures of adolescent hypomania. Twin analyses indicated that 6–9% of the variance in hypomania was explained by genetic influences that were shared with autistic traits in childhood. When repeating these analyses for specific autistic trait domains, we found a stronger association between social interaction difficulties and hypomania than for other autistic trait domains. Conclusions These results indicate a genetic link between autistic traits and hypomania in adolescence. This adds to the growing evidence base of genetic factors associated with ASDs showing links with psychiatric outcomes across childhood and into adulthood.

scholarly journals Sex differences in brain structure: An autism twin study on restricted and repetitive behaviors

2018 ◽  
Author(s):  
Annelies van’t Westeinde ◽  
Élodie Cauvet ◽  
Roberto Toro ◽  
Ralf Kuja-Halkola ◽  
Janina Neufeld ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Sex Differences ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Brain Anatomy ◽  
Social Responsiveness ◽  
Autism Symptoms ◽  
Twin Design ◽  
Restricted And Repetitive Behaviors

AbstractFemales with autism spectrum disorder have been reported to exhibit fewer and less severe restricted and repetitive behaviors and interests compared to males. This difference might indicate sex specific alterations of brain networks involved in autism symptom domains, especially within cortico-striatal and sensory integration networks. This study used a well-controlled twin design to examine sex differences in brain anatomy in relation to repetitive behaviors. In 75 twin pairs (n=150, 62 females, 88 males) enriched for autism spectrum disorder (n=32), and other neurodevelopmental disorders (n =32), we explored the association of restricted and repetitive behaviors and interests – operationalized by the Autism Diagnostic Interview-Revised (C domain) and the Social Responsiveness Scale-2 (Restricted Interests and Repetitive Behavior subscale), with cortical volume, surface area and thickness of neocortical, sub-cortical and cerebellar networks. Cotwin control analyses revealed within-pair associations between RRBI symptoms and the right intraparietal sulcus and right orbital gyrus in females only. These findings endorse the importance of investigating sex differences in the neurobiology of autism symptoms, and indicate different etiological pathways underlying restricted and repetitive behaviors and interests in females and males.

scholarly journals The Association Between Somatic Health, Autism Spectrum Disorder, and Autistic Traits

2019 ◽  
Vol 50 (4) ◽  
pp. 233-246 ◽  
Author(s):  
Pei-Yin Pan ◽  
Kristiina Tammimies ◽  
Sven Bölte
Keyword(s):  
Autism Spectrum Disorder ◽  
Twin Pair ◽  
Monozygotic Twins ◽  
Twin Studies ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Social Responsiveness ◽  
Somatic Health ◽  
Validated Questionnaire

AbstractThis study used a twin cohort to investigate the association of autism spectrum disorder (ASD) and autistic traits with somatic health. A total of 344 twins (172 pairs; mean age 15.56 ± 5.62 years) enriched for ASD and other neurodevelopmental conditions were examined. Medical history and current physical problems were collected with a validated questionnaire to determine twin’s somatic health. The Social Responsiveness Scale (SRS-2) was used to measure the participant’s severity of autistic traits. Identified somatic health issues with significant within-twin pair differences were tested in relation to both ASD diagnosis and autistic traits in a co-twin control model. Twins with ASD exhibited more neurological and immunological health problems compared to those without ASD (p = 0.005 and p = 0.004, respectively). The intra-pair differences of neurological conditions and SRS-2 score were significantly correlated in monozygotic twins differing for autism traits (r = 0.40, p = 0.001), while the correlation was not found for immunological problems. In addition, a conditional model for analysis of within-twin pair effects revealed an association between neurological problems and clinical ASD diagnosis (Odds ratio per neurological problem 3.15, p = 0.02), as well as autistic traits (β = 10.44, p = 0.006), after adjusting for possible effects of co-existing attention deficit hyperactivity disorder and general intellectual abilities. Our findings suggest that neurological problems are associated with autism, and that non-shared environmental factors contribute to the overlap for both clinical ASD and autistic traits. Further population-based twin studies are warranted to validate our results and examine in detailed the shared genetic and environmental contributions of neurological problems and ASD.

scholarly journals Testing the Empathizing–Systemizing theory of sex differences and the Extreme Male Brain theory of autism in half a million people

2018 ◽  
Vol 115 (48) ◽  
pp. 12152-12157 ◽  
Author(s):  
David M. Greenberg ◽  
Varun Warrier ◽  
Carrie Allison ◽  
Simon Baron-Cohen
Keyword(s):  
Sex Differences ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Small Sample ◽  
Autism Spectrum Quotient ◽  
Short Forms ◽  
Extreme Type ◽  
Autistic People ◽  
Extreme Male Brain ◽  
Small Sample Sizes

The Empathizing–Systemizing (E-S) theory of typical sex differences suggests that individuals may be classified based on empathy and systemizing. An extension of the E-S theory, the Extreme Male Brain (EMB) theory suggests that autistic people on average have a shift towards a more masculinized brain along the E-S dimensions. Both theories have been investigated in small sample sizes, limiting their generalizability. Here we leverage two large datasets (discovery n = 671,606, including 36,648 autistic individuals primarily; and validation n = 14,354, including 226 autistic individuals) to investigate 10 predictions of the E-S and the EMB theories. In the discovery dataset, typical females on average showed higher scores on short forms of the Empathy Quotient (EQ) and Sensory Perception Quotient (SPQ), and typical males on average showed higher scores on short forms of the Autism Spectrum Quotient (AQ) and Systemizing Quotient (SQ). Typical sex differences in these measures were attenuated in autistic individuals. Analysis of “brain types” revealed that typical females on average were more likely to be Type E (EQ > SQ) or Extreme Type E and that typical males on average were more likely to be Type S (SQ > EQ) or Extreme Type S. In both datasets, autistic individuals, regardless of their reported sex, on average were “masculinized.” Finally, we demonstrate that D-scores (difference between EQ and SQ) account for 19 times more of the variance in autistic traits (43%) than do other demographic variables including sex. Our results provide robust evidence in support of both the E-S and EMB theories.

scholarly journals Perceptual processing links autism and synesthesia: a twin study

2020 ◽  
Author(s):  
Tessa M van Leeuwen ◽  
Lowe Wilsson ◽  
Hjalmar Nobel Norrman ◽  
Mark Dingemanse ◽  
Sven Bölte ◽  
...  
Keyword(s):  
Twin Study ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Perceptual Processing ◽  
Self Report ◽  
Sensory Sensitivity ◽  
Twin Design ◽  
Linear Relationships ◽  
Spectrum Condition ◽  
Attentional Style

Background. Synesthesia occurs more commonly in individuals diagnosed with Autism Spectrum Condition (ASC) and is associated with autistic traits and autism-related perceptual processing characteristics, including a more detail-focused attentional style and altered sensory sensitivity. Furthermore, autistic traits and autism-like sensory sensitivity show a synesthesia-dosage effect, since they increase with the amount of synesthesia types in synesthetes and with the degree of synesthesia (how consistently colors are associated with graphemes) in non-synesthetes.Methods. Here we investigated a predominantly non-synesthetic twin sample, enriched for ASC and other neurodevelopmental disorders (n=65, 14-34 years, 60% female). We modelled the linear relationships between the degree of synesthesia and autistic traits, sensory sensitivity, and visual perception, both within-twin pairs (22 pairs) where all factors shared by twins are implicitly controlled (including 50-100% genetics), and across the entire cohort.Results. Our results indicate that the degree of synesthesia is associated with autistic traits only within the attention to details domain and with sensory hyper-, but not hypo-sensitivity. These associations were stronger within-twin pairs compared to across the sample. Further, twins with a higher degree of synesthesia were better than their co-twins in identifying fragmented images in the Fragmented Pictures Test (FPT).Conclusions. This study is the first twin study on the association between synesthesia and autism-related perceptual and clinical features, and the results suggest that a twin design can be more sensitive for detecting these associations. Consistent with previous findings, the results support an association between the degree of synesthesia and autism-related perceptual features, while utilizing a different self-report measure for sensory sensitivity. The novel finding of enhanced feature integration in the FPT in twins with a higher degree of synesthesia challenges the view of a generally more detail-focused attentional style in synesthesia and might be related to enhanced memory or mental imagery in more synesthetic individuals.

scholarly journals Altered structural brain asymmetry in autism spectrum disorder: large-scale analysis via the ENIGMA Consortium

2019 ◽  
Author(s):  
Merel C. Postema ◽  
Daan van Rooij ◽  
Evdokia Anagnostou ◽  
Celso Arango ◽  
Guillaume Auzias ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Surface Area ◽  
Cortical Thickness ◽  
Large Scale ◽  
Autism Spectrum ◽  
Brain Asymmetry ◽  
Scale Analysis ◽  
Large Scale Analysis ◽  
Cortical Regions ◽  
Structural Brain

AbstractBackgroundLeft-right asymmetry is an important organizing feature of the healthy brain. Various studies have reported altered structural brain asymmetry in autism spectrum disorder (ASD). However, findings have been inconsistent, likely due to limited sample sizes and low statistical power.MethodsWe investigated 1,774 subjects with ASD and 1,809 controls, from 54 datasets, for differences in the asymmetry of thickness and surface area of 34 cerebral cortical regions. We also examined global hemispheric measures of cortical thickness and area asymmetry, and volumetric asymmetries of subcortical structures. Data were obtained via the ASD Working Group of the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) consortium. T1-weighted MRI data were processed with a single protocol using FreeSurfer and the Desikan-Killiany atlas.ResultsASD was significantly associated with reduced leftward asymmetry of total hemispheric average cortical thickness, compared to controls. Eight regional thickness asymmetries, distributed over the cortex, also showed significant associations with diagnosis after correction for multiple comparisons, for which asymmetry was again generally lower in ASD versus controls. In addition, the medial orbitofrontal surface area was less rightward asymmetric in ASD than controls, and the putamen volume was more leftward asymmetric in ASD than controls. The largest effect size had Cohen’sd= 0.15. Most effects did not depend on age, sex, IQ, or disorder severity.ConclusionAltered lateralized neurodevelopment is suggested in ASD, affecting widespread cortical regions with diverse functions. Large-scale analysis was necessary to reliably detect, and accurately describe, subtle alterations of structural brain asymmetry in this disorder.

Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study

2015 ◽  
Vol 229 (1-2) ◽  
pp. 599-601 ◽  
Author(s):  
Jun Egawa ◽  
Yuichiro Watanabe ◽  
Atsunori Sugimoto ◽  
Ayako Nunokawa ◽  
Masako Shibuya ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Twin Pair ◽  
Monozygotic Twin ◽  
Autism Spectrum ◽  
Follow Up Study ◽  
Whole Exome ◽  
Monozygotic Twin Pair

scholarly journals Dissociable Effects of Social and Non-Social Autistic Traits on Figure Disembedding and Mental Rotation in Women and Men

2021 ◽  
Author(s):  
Massimiliano Conson ◽  
Vincenzo Paolo Senese ◽  
Isa Zappullo ◽  
Chiara Baiano ◽  
Varun Warrier ◽  
...  
Keyword(s):  
Sex Differences ◽  
Mental Rotation ◽  
Factor Model ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Autism Spectrum Quotient ◽  
Social Traits ◽  
Autistic People ◽  
Comparable Performance ◽  
Visuospatial Tasks

Abstract Recent data revealed dissociations between social and non-social domains both in autism and neurotypical population. In the present study, we investigated whether specific visuospatial abilities, as mental rotation and figure disembedding, are differently related to social and non-social autistic traits, also considering sex differences in dealing with visuospatial tasks. University students (N = 426) completed the Autism Spectrum Quotient (AQ), mental rotation of two-dimensional figures and figure disembedding tasks. A two-factor model of AQ was used to differentiate social and non-social autistic traits. Mental rotation was affected by a significant interaction between sex, social and non-social traits. This implies that, when non-social traits were above the mean (+ 1 SD), no sex differences in mental rotation were found, whereas, below this value, sex differences depended on the social traits, with men outperforming women at middle-to-high social traits, and with a comparable performance, or even with women outperforming men, at lower social traits. Instead, only a small positive correlation between figure disembedding and social traits was observed in the overall sample. These results are interpreted using the hyper-systemizing framework of autism and contribute to the debate on individual differences in the cognitive style of autistic people and neurotypical people with autistic traits.

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