1. {{International Society for Autism Research News}}. {Autism Res};2015 (Aug);8(4):471.
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2. Alaerts K, Geerlings F, Herremans L, Swinnen SP, Verhoeven J, Sunaert S, Wenderoth N. {{Functional Organization of the Action Observation Network in Autism: A Graph Theory Approach}}. {PLoS One};2015;10(8):e0137020.
BACKGROUND: The ability to recognize, understand and interpret other’s actions and emotions has been linked to the mirror system or action-observation-network (AON). Although variations in these abilities are prevalent in the neuro-typical population, persons diagnosed with autism spectrum disorders (ASD) have deficits in the social domain and exhibit alterations in this neural network. METHOD: Here, we examined functional network properties of the AON using graph theory measures and region-to-region functional connectivity analyses of resting-state fMRI-data from adolescents and young adults with ASD and typical controls (TC). RESULTS: Overall, our graph theory analyses provided convergent evidence that the network integrity of the AON is altered in ASD, and that reductions in network efficiency relate to reductions in overall network density (i.e., decreased overall connection strength). Compared to TC, individuals with ASD showed significant reductions in network efficiency and increased shortest path lengths and centrality. Importantly, when adjusting for overall differences in network density between ASD and TC groups, participants with ASD continued to display reductions in network integrity, suggesting that also network-level organizational properties of the AON are altered in ASD. CONCLUSION: While differences in empirical connectivity contributed to reductions in network integrity, graph theoretical analyses provided indications that also changes in the high-level network organization reduced integrity of the AON.
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3. Baron-Cohen S, Bowen DC, Holt RJ, Allison C, Auyeung B, Lombardo MV, Smith P, Lai MC. {{The « Reading the Mind in the Eyes » Test: Complete Absence of Typical Sex Difference in ~400 Men and Women with Autism}}. {PLoS One};2015;10(8):e0136521.
The « Reading the Mind in the Eyes » test (Eyes test) is an advanced test of theory of mind. Typical sex difference has been reported (i.e., female advantage). Individuals with autism show more difficulty than do typically developing individuals, yet it remains unclear how this is modulated by sex, as females with autism have been under-represented. Here in a large, non-male-biased sample we test for the effects of sex, diagnosis, and their interaction. The Eyes test (revised version) was administered online to 395 adults with autism (178 males, 217 females) and 320 control adults (152 males, 168 females). Two-way ANOVA showed a significant sex-by-diagnosis interaction in total correct score (F(1,711) = 5.090, p = 0.024, etap2 = 0.007) arising from a significant sex difference between control males and females (p < 0.001, Cohen's d = 0.47), and an absence of a sex difference between males and females with autism (p = 0.907, d = 0.01); significant case-control differences were observed across sexes, with effect sizes of d = 0.35 in males and d = 0.69 in females. Group-difference patterns fit with the extreme-male-brain (EMB) theory predictions. Eyes test-Empathy Quotient and Eyes test-Autism Spectrum Quotient correlations were significant only in females with autism (r = 0.35, r = -0.32, respectively), but not in the other 3 groups. Support vector machine (SVM) classification based on response pattern across all 36 items classified autism diagnosis with a relatively higher accuracy for females (72.2%) than males (65.8%). Nevertheless, an SVM model trained within one sex generalized equally well when applied to the other sex. Performance on the Eyes test is a sex-independent phenotypic characteristic of adults with autism, reflecting sex-common social difficulties, and provides support for the EMB theory predictions for both males and females. Performance of females with autism differed from same-sex controls more than did that of males with autism. Females with autism also showed stronger coherence between self-reported dispositional traits and Eyes test performance than all other groups. Lien vers le texte intégral (Open Access ou abonnement)
4. Bishop JR, Najjar F, Rubin LH, Guter SJ, Owley T, Mosconi MW, Jacob S, Cook EH. {{Escitalopram pharmacogenetics: CYP2C19 relationships with dosing and clinical outcomes in autism spectrum disorder}}. {Pharmacogenet Genomics};2015 (Aug 26)
PURPOSE: Selective serotonin reuptake inhibitors such as escitalopram are commonly used to treat patients with autism spectrum disorder (ASD), but there are individual differences in treatment response and tolerability. CYP2C19 encodes the primary enzyme responsible for escitalopram metabolism and we investigated whether polymorphisms in CYP2C19 were related to symptoms and dosing in a pharmacogenetic study of ASD. PARTICIPANTS AND METHODS: Participants completed the Aberrant Behavior Checklist – Community Version (ABC-CV) weekly for 6 weeks. Escitalopram was initiated at a dose of 2.5 mg orally daily, with weekly increases to 20 mg unless intolerable side-effects occurred. Three CYP2C19 metabolizer groups, including ultrarapid, extensive, and reduced metabolizers, were examined in relation to symptom improvement and tolerated dose. RESULTS: ABC-CV scores improved over the course of treatment (P<0.0001). No differences were identified in the rate of improvement across metabolizer groups for the ABC-CV irritability subscale, which was the primary outcome for clinical symptoms. There was a trend for a metabolizer group by time interaction with respect to dose (P=0.10). This interaction was driven by the linear rate of change from week 1 to study endpoint between the reduced metabolizers and ultrarapid metabolizer groups (P=0.05). Post-hoc analyses identified significant differences in the rate of dose escalation between ultrarapid metabolizers and extensive metabolizers and for ultrarapid metabolizers compared with reduced metabolizers (P's<0.04), whereby ultrarapid metabolizers showed a slower rate of change in dose over time. CONCLUSION: CYP2C19 ultrarapid metabolizers were associated with reduced tolerance to a fixed titration schedule of open-label escitalopram in this ASD study sample. Possible explanations may involve the altered kinetics of faster metabolizers or previously unknown activities of escitalopram metabolites.
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5. Dolen G. {{Autism: oxytocin, serotonin, and social reward}}. {Soc Neurosci};2015 (Aug 28)
Over 70 years since the first description of the disease, disrupted social behavior remains a core clinical feature of autistic spectrum disorder. The complex etiology of the disorder portends the need for a better understanding of the brain mechanisms that enable social behaviors, particularly those that are relevant to autism which is characterized by a failure to develop peer relationships, difficulty with emotional reciprocity and imitative play, and disrupted language and communication skills. Towards this end, the current review will examine recent progress that has been made toward understanding the neural mechanisms underlying consociate social attachments.
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6. Garon N, Zwaigenbaum L, Bryson S, Smith IM, Brian J, Roncadin C, Vaillancourt T, Armstrong V, Sacrey LR, Roberts W. {{Temperament and its Association with Autism Symptoms in a High-risk Population}}. {J Abnorm Child Psychol};2015 (Aug 28)
Temperament was investigated in a group of high-risk infants (N = 383; 45 % girls) who had an older sibling with autism spectrum disorder (ASD), and in community control infants (N = 162; 46 % girls) with no family history of ASD (low-risk). The infants were assessed at age 12 months using the Infant Behavior Questionnaire, and at 24 months using the Toddler Behavior Assessment Questionnaire. At 36 months, an independent blind diagnostic assessment for ASD was conducted using the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). The results indicate not only differences in temperament traits between the high- and low-risk groups, but also differences in the structure of higher-order temperament factors. The results support the importance of early reactive temperament in the development of Effortful Control in the high-risk sample. Furthermore, Effortful Control at 24 months appears to play a critical role in predicting later ASD symptoms (at 36 months). Taken together, these findings support the use of early temperament as an endophenotype for ASD.
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7. Gonzalez-Gadea ML, Chennu S, Bekinschtein TA, Rattazzi A, Beraudi A, Trippichio P, Moyano B, Soffita Y, Steinberg L, Adolfi F, Sigman M, Marino J, Manes F, Ibanez A. {{Predictive coding in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder}}. {J Neurophysiol};2015 (Aug 26):jn 00543 02015.
Predictive coding has been proposed as a framework to understand neural processes in neuropsychiatric disorders. We used this approach to describe mechanisms responsible for attentional abnormalities in Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). We monitored brain dynamics of 59 children (8-15 years-old) who had ASD or ADHD or were control participants via high density-electroencephalography. We performed analysis at the scalp and source-space levels while participants listened to standard and deviant tone sequences. Through task instructions, we manipulated top-down expectation by presenting expected and unexpected deviant sequences. ASD children showed reduced superior frontal cortex (FC) responses to unexpected events but increased dorsolateral prefrontal cortex (PFC) activation to expected events. In contrast, ADHD children exhibited reduced cortical responses in superior FC to expected events but strong PFC activation to unexpected events. Moreover, neural abnormalities were associated with specific control mechanisms, namely inhibitory control in ASD and set-shifting in ADHD. Based on the predictive coding account, top-down expectation abnormalities could be attributed to a disproportionate reliance (precision) allocated to prior beliefs in ASD and to sensory input in ADHD.
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8. Ishikawa N, Watanabe G, Tarui T, Kiuchi R, Ohtake H, Tomita S, Kawachi K. {{Two-Port Robotic Cardiac Surgery (TROCS) for Atrial Septal Defect (ASD) Using Cross-Arm Technique- TROCS ASD Repair}}. {Circ J};2015 (Aug 28)
BACKGROUND: We successfully performed totally endoscopic atrial septal defect (ASD) repair via 2 ports, and we named this procedure two-port robotic cardiac surgery (TROCS).Methods and Results:A 51-year-old woman with secundum ASD underwent robot-assisted ASD repair under ventricle fibrillation without aortic cross-clamping. Two ports were placed in the right side of the chest, and 1 port was for the robotic endoscope. Two robotic instruments were inserted through another port and crossed while preventing them from colliding. CONCLUSIONS: TROCS ASD repair using a cross-arm technique was achieved safely with good clinical results and excellent cosmetic results.
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9. Kamps D, Mason R, Thiemann-Bourque K, Feldmiller S, Turcotte A, Miller T. {{The Use of Peer Networks to Increase Communicative Acts of First Grade Students with Autism Spectrum Disorders}}. {Focus Autism Other Dev Disabl};2014 (Dec);29(4):230-245.
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10. Kousha M, Attar HA, Shoar Z. {{Anxiety, depression, and quality of life in Iranian mothers of children with autism spectrum disorder}}. {J Child Health Care};2015 (Aug 26)
Autism spectrum disorder (ASD) is being more recognized and diagnosed in developing as well as developed countries. We aimed to investigate the frequency of anxiety, depression, and quality of life in mothers of children with ASD in Iranian families. We conducted a descriptive cross-sectional study on demographic data and mental health characteristics of 127 mothers of children with ASD. Mothers of children with ASD had high levels of anxiety (72.4%), depression (49.6%), and low scores of health-related quality of life (HRQOL). There was strong association between the child’s age and the severity of mother’s depression and QOL. Duration since diagnosis of ASD positively correlated with maternal depression. Anxiety, depression, and low HRQOL are more common in Iranian mothers with autistic children in our study. Our findings have implications for further investigation in mental health status of mothers of children with ASD, and providing educational support and interventional strategies may improve the mental health status of the entire family.
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11. Liu X, Shimada T, Otowa T, Wu YY, Kawamura Y, Tochigi M, Iwata Y, Umekage T, Toyota T, Maekawa M, Iwayama Y, Suzuki K, Kakiuchi C, Kuwabara H, Kano Y, Nishida H, Sugiyama T, Kato N, Chen CH, Mori N, Yamada K, Yoshikawa T, Kasai K, Tokunaga K, Sasaki T, Gau SS. {{Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations}}. {Autism Res};2015 (Aug 28)
Autism spectrum disorder is a heterogeneous neurodevelopmental disorder with strong genetic basis. To identify common genetic variations conferring the risk of ASD, we performed a two-stage genome-wide association study using ASD family and healthy control samples obtained from East Asian populations. A total of 166 ASD families (n = 500) and 642 healthy controls from the Japanese population were used as the discovery cohort. Approximately 900,000 single nucleotide polymorphisms (SNPs) were genotyped using Affymetrix Genome-Wide Human SNP array 6.0 chips. In the replication stage, 205 Japanese ASD cases and 184 healthy controls, as well as 418 Chinese Han trios (n = 1,254), were genotyped by TaqMan platform. Case-control analysis, family based association test, and transmission/disequilibrium test (TDT) were then conducted to test the association. In the discovery stage, significant associations were suggested for 14 loci, including 5 known ASD candidate genes: GPC6, JARID2, YTHDC2, CNTN4, and CSMD1. In addition, significant associations were identified for several novel genes with intriguing functions, such as JPH3, PTPRD, CUX1, and RIT2. After a meta-analysis combining the Japanese replication samples, the strongest signal was found at rs16976358 (P = 6.04 x 10-7 ), which is located near the RIT2 gene. In summary, our results provide independent support to known ASD candidate genes and highlight a number of novel genes warranted to be further investigated in a larger sample set in an effort to improve our understanding of the genetic basis of ASD. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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12. McFadden B, Kamps D, Heitzman-Powell L. {{Social Communication Effects of Peer-Mediated Recess Intervention for Children with Autism}}. {Res Autism Spectr Disord};2014 (Dec);8(12):1699-1712.
Children with ASD face enormous challenges in the area of social functioning. Research has shown that impairments in social functioning distinguish this population from both typically developing children and children with disabilities. This study incorporated several evidence-based social skills-teaching procedures (i.e., direct instruction, priming, prompting, peer-mediation, contingent reinforcement, and token economies) directly in the recess setting to increase appropriate social behaviors for four children with ASD (ages 6-8). Elements of Peer Networks and Pivotal Response Training (two types of social skills intervention packages in the literature) were included. Results showed significant increases in social communication between focus children and their peers, as well as generalization of skills to non-intervention recesses.
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13. Rosenberg K. {{Reducing Behavioral Problems in Children with Autism Spectrum Disorders}}. {Am J Nurs};2015 (Sep);115(9):70-71.
According to this study.
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14. Scahill L, McCracken JT, King BH, Rockhill C, Shah B, Politte L, Sanders R, Minjarez M, Cowen J, Mullett J, Page C, Ward D, Deng Y, Loo S, Dziura J, McDougle CJ. {{Extended-Release Guanfacine for Hyperactivity in Children With Autism Spectrum Disorder}}. {Am J Psychiatry};2015 (Aug 28):appiajp201515010055.
OBJECTIVE: Hyperactivity, impulsiveness, and distractibility are common problems in children with autism spectrum disorder (ASD). Extended-release guanfacine is approved for children with attention deficit hyperactivity disorder but not well studied in ASD. METHOD: In a multisite, randomized clinical trial, extended-release guanfacine was compared with placebo in children with ASD accompanied by hyperactivity, impulsiveness, and distractibility. RESULTS: Sixty-two subjects (boys, N=53; girls, N=9; mean age=8.5 years [SD=2.25]) were randomly assigned to guanfacine (N=30) or placebo (N=32) for 8 weeks. The guanfacine group showed a 43.6% decline in scores on the Aberrant Behavior Checklist-hyperactivity subscale (least squares mean from 34.2 to 19.3) compared with a 13.2% decrease in the placebo group (least squares mean from 34.2 to 29.7; effect size=1.67). The rate of positive response (much improved or very much improved on the Clinical Global Impression-Improvement scale) was 50% (15 of 30) for guanfacine compared with 9.4% (3 of 32) for placebo. A brief cognitive battery tapping working memory and motor planning showed no group differences before or after 8 weeks of treatment. The modal dose of guanfacine at week 8 was 3 mg/day (range: 1-4 mg/day), and the modal dose was 3 mg/day (range: 2-4 mg/day) for placebo. Four guanfacine-treated subjects (13.3%) and four placebo subjects (12.5%) exited the study before week 8. The most common adverse events included drowsiness, fatigue, and decreased appetite. There were no significant changes on ECG in either group. For subjects in the guanfacine group, blood pressure declined in the first 4 weeks, with return nearly to baseline by endpoint (week 8). Pulse rate showed a similar pattern but remained lower than baseline at endpoint. CONCLUSIONS: Extended-release guanfacine appears to be safe and effective for reducing hyperactivity, impulsiveness, and distractibility in children with ASD.
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15. Sim A, Cordier R, Vaz S, Netto J, Falkmer T. {{Factors associated with negative co-parenting experiences in families of a child with autism spectrum disorder}}. {Dev Neurorehabil};2015 (Aug 27):1-9.
PURPOSE: The purpose of this study was to identify key factors associated with negative co-parenting experiences in parents raising a child with autism spectrum disorder. METHODS: Questionnaires were sent to families with one or more children with a diagnosis of autism spectrum disorder. Parents of 142 children with autism spectrum disorder indicated that the diagnosis had a very negative impact on their co-parent relationship. A multivariate logistic regression model was run to analyze the association of these experiences with various demographic, family and community factors. RESULTS: Three factors were associated with negative co-parenting relationships: (1) family stress due to the child’s diagnosis, (2) effects of the diagnosis on parents’ relationship with their other children and (3) distance travelled to the nearest medical facility. CONCLUSIONS: Findings highlight the need to further explore family dynamics, particularly the relationships between the co-parenting alliance, other family members and the extra-familial environment.
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16. van Dongen EV, von Rhein D, O’Dwyer L, Franke B, Hartman CA, Heslenfeld DJ, Hoekstra PJ, Oosterlaan J, Rommelse N, Buitelaar J. {{Distinct effects of ASD and ADHD symptoms on reward anticipation in participants with ADHD, their unaffected siblings and healthy controls: a cross-sectional study}}. {Mol Autism};2015;6:48.
BACKGROUND: Autism spectrum disorder (ASD) traits are continuously distributed throughout the population, and ASD symptoms are also frequently observed in patients with attention-deficit/hyperactivity disorder (ADHD). Both ASD and ADHD have been linked to alterations in reward-related neural processing. However, whether both symptom domains interact and/or have distinct effects on reward processing in healthy and ADHD populations is currently unknown. METHODS: We examined how variance in ASD and ADHD symptoms in individuals with ADHD and healthy participants was related to the behavioural and neural response to reward during a monetary incentive delay (MID) task. Participants (mean age: 17.7 years, range: 10-28 years) from the NeuroIMAGE study with a confirmed diagnosis of ADHD (n = 136), their unaffected siblings (n = 83), as well as healthy controls (n = 105) performed an MID task in a magnetic resonance imaging (MRI) scanner. ASD and ADHD symptom scores were used as predictors of the neural response to reward anticipation and reward receipt. Behavioural responses were modeled using linear mixed models; neural responses were analysed using FMRIB’s Software Library (FSL) proprietary mixed effects analysis (FLAMEO). RESULTS: ASD and ADHD symptoms were associated with alterations in BOLD activity during reward anticipation, but not reward receipt. Specifically, ASD scores were related to increased insular activity during reward anticipation across the sample. No interaction was found between this effect and the presence of ADHD, suggesting that ASD symptoms had no differential effect in ADHD and healthy populations. ADHD symptom scores were associated with reduced dorsolateral prefrontal activity during reward anticipation. No interactions were found between the effects of ASD and ADHD symptoms on reward processing. CONCLUSIONS: Variance in ASD and ADHD symptoms separately influence neural processing during reward anticipation in both individuals with (an increased risk of) ADHD and healthy participants. Our findings therefore suggest that both symptom domains affect reward processing through distinct mechanisms, underscoring the importance of multidimensional and multimodal assessment in psychiatry.
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17. Vinet E, Pineau CA, Clarke AE, Scott S, Fombonne E, Joseph L, Platt RW, Bernatsky S. {{Increased Risk of Autism Spectrum Disorders in Children Born to Women with Systemic Lupus Erythematosus: Results from the OSLER Cohort}}. {Arthritis Rheumatol};2015 (Aug 28)
OBJECTIVE: In utero exposure to maternal antibodies and cytokines are potential risk factors for autism spectrum disorders (ASD). We aimed to determine if children born to mothers with systemic lupus erythematosus (SLE) have an increased risk of ASD compared to children born to mothers without SLE. METHODS: The « Offspring of SLE mothers Registry (OSLER) » is a large population-based cohort, identified through Quebec’s healthcare databases (1989-2009), including all women who had >/=1 hospitalization for delivery after SLE diagnosis, and a randomly selected control group of women, matched >/=4:1 for age and year of delivery. We identified children born live to SLE mothers and their matched controls, and ascertained ASD, performing multivariate analyses to adjust for parental demographics, sex and birth order of child, maternal comorbidities, and obstetrical complications. RESULTS: 509 women with SLE had 719 children, while 5824 matched controls had 8493 children. Children born to women with SLE had more ASD compared to controls [1.4% (95%CI 0.8,2.5) versus 0.6% (95%CI 0.5,0.8), difference 0.8% (95%CI 0.1,1.9)]. Mean age at ASD diagnosis was younger in offspring of SLE mothers (3.8 years, 95%CI 1.8,5.8) as opposed to controls (5.7 years, 95%CI 4.9,6.5). In primary multivariate analysis, SLE offspring had substantially increased risk of ASD versus controls (OR 2.19, 95%CI 1.09,4.39). CONCLUSIONS: Compared to children from the general population, children born to women with SLE have an increased risk of ASD, although in absolute terms it represents a rare outcome. These hypothesis-generating data provide direction for additional studies of maternal autoimmunity and ASD risk. This article is protected by copyright. All rights reserved.
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18. Visser K, Greaves-Lord K, Tick NT, Verhulst FC, Maras A, van der Vegt EJ. {{Study protocol: a randomized controlled trial investigating the effects of a psychosexual training program for adolescents with autism spectrum disorder}}. {BMC Psychiatry};2015;15(1):207.
BACKGROUND: Previous research shows that adolescents with autism spectrum disorder (ASD) run several risks in their psychosexual development and that these adolescents can have limited access to reliable information on puberty and sexuality, emphasizing the need for specific guidance of adolescents with ASD in their psychosexual development. Few studies have investigated the effects of psychosexual training programs for adolescents with ASD and to date no randomized controlled trials are available to study the effects of psychosexual interventions for this target group. METHODS/DESIGN: The randomized controlled trial (RCT) described in this study protocol aims to investigate the effects of the Tackling Teenage Training (TTT) program on the psychosexual development of adolescents with ASD. This parallel clinical trial, conducted in the South-West of the Netherlands, has a simple equal randomization design with an intervention and a waiting-list control condition. Two hundred adolescents and their parents participate in this study. We assess the participants in both conditions using self-report as well as parent-report questionnaires at three time points during 1 year: at baseline (T1), post-treatment (T2), and for follow-up (T3). DISCUSSION: To our knowledge, the current study is the first that uses a randomized controlled design to study the effects of a psychosexual training program for adolescents with ASD. It has a number of methodological strengths, namely a large sample size, a wide range of functionally relevant outcome measures, the use of multiple informants, and a standardized research and intervention protocol. Also some limitations of the described study are identified, for instance not making a comparison between two treatment conditions, and no use of blinded observational measures to investigate the ecological validity of the research results. TRIAL REGISTRATION: Dutch Trial Register NTR2860 . Registered on 20 April 2011.
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19. Walsh JA, Vida MD, Morrisey MN, Rutherford MD. {{Adults with autism spectrum disorder show evidence of figural aftereffects with male and female faces}}. {Vision Res};2015 (Aug 28)
The norm-based coding model of face perception posits that face perception involves an implicit comparison of observed faces to a representation of an average face (prototype) that is shaped by experience. Using some methods, observers with autism spectrum disorder (ASD) have shown atypical face perception, but other methods suggest preserved face perception. Here, we used a figural aftereffects paradigm to test whether adults with ASD showed evidence of norm-based coding of faces, and whether they encode separate prototypes for male and female faces, as typical observers do. Following prolonged exposure to distorted faces that differ from their stored prototype, neurotypical adults show aftereffects: their prototype shifts in the direction of the adapting face. We measured aftereffects following adaptation to one distorted gender. There were no significant group differences in the size or direction of the aftereffects; both groups showed sex-selective aftereffects after adapting to expanded female faces but showed aftereffects for both sexes after adapting to contracted face of either sex, demonstrating that adults with and without ASD show evidence of partially dissociable male and female face prototypes. This is the first study to examine sex-selective prototypes using figural aftereffects in adults with ASD and replicates the findings of previous studies examining aftereffects in adults with ASD. The results contrast with studies reporting diminished adaptation in children with ASD.
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20. Warrier V, Chee V, Smith P, Chakrabarti B, Baron-Cohen S. {{A comprehensive meta-analysis of common genetic variants in autism spectrum conditions}}. {Mol Autism};2015;6:49.
BACKGROUND: Autism spectrum conditions (ASC) are a group of neurodevelopmental conditions characterized by difficulties in social interaction and communication alongside repetitive and stereotyped behaviours. ASC are heritable, and common genetic variants contribute substantial phenotypic variability. More than 600 genes have been implicated in ASC to date. However, a comprehensive investigation of candidate gene association studies in ASC is lacking. METHODS: In this study, we systematically reviewed the literature for association studies for 552 genes associated with ASC. We identified 58 common genetic variants in 27 genes that have been investigated in three or more independent cohorts and conducted a meta-analysis for 55 of these variants. We investigated publication bias and sensitivity and performed stratified analyses for a subset of these variants. RESULTS: We identified 15 variants nominally significant for the mean effect size, 8 of which had P values below a threshold of significance of 0.01. Of these 15 variants, 11 were re-investigated for effect sizes and significance in the larger Psychiatric Genomics Consortium dataset, and none of them were significant. Effect direction for 8 of the 11 variants were concordant between both the datasets, although the correlation between the effect sizes from the two datasets was poor and non-significant. CONCLUSIONS: This is the first study to comprehensively examine common variants in candidate genes for ASC through meta-analysis. While for majority of the variants, the total sample size was above 500 cases and 500 controls, the total sample size was not large enough to accurately identify common variants that contribute to the aetiology of ASC.
