1. {{Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia}}. {Mol Autism};2017;8:21.
BACKGROUND: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15). METHODS: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). RESULTS: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P = 9 x 10-6). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. CONCLUSIONS: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4. Lien vers le texte intégral (Open Access ou abonnement)
2. Bao VA, Doobay V, Mottron L, Collignon O, Bertone A. {{Multisensory Integration of Low-level Information in Autism Spectrum Disorder: Measuring Susceptibility to the Flash-Beep Illusion}}. {J Autism Dev Disord};2017 (May 23)
Previous studies have suggested audiovisual multisensory integration (MSI) may be atypical in Autism Spectrum Disorder (ASD). However, much of the research having found an alteration in MSI in ASD involved socio-communicative stimuli. The goal of the current study was to investigate MSI abilities in ASD using lower-level stimuli that are not socio-communicative in nature by testing susceptibility to auditory-guided visual illusions. Adolescents and adults with ASD and typically-developing (TD) individuals were shown to have similar susceptibility to a fission illusion. However, the ASD group was significantly more susceptible to the fusion illusion. Results suggest that individuals with ASD demonstrate MSI on the flash-beep illusion task but that their integration of audiovisual sensory information may be less selective than for TD individuals.
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3. Black KR, Stevenson RA, Segers M, Ncube BL, Sun SZ, Philipp-Muller A, Bebko JM, Barense MD, Ferber S. {{Linking Anxiety and Insistence on Sameness in Autistic Children: The Role of Sensory Hypersensitivity}}. {J Autism Dev Disord};2017 (May 24)
Sensory hypersensitivity and insistence on sameness (I/S) are common, co-occurring features of autism, yet the relationship between them is poorly understood. This study assessed the impact of sensory hypersensitivity on the clinical symptoms of specific phobia, separation anxiety, social anxiety and I/S for autistic and typically developing (TD) children. Parents of 79 children completed questionnaires on their child’s difficulties related to sensory processing, I/S, and anxiety. Results demonstrated that sensory hypersensitivity mediated 67% of the relationship between symptoms of specific phobia and I/S and 57% of the relationship between separation anxiety and I/S. No relationship was observed between sensory hypersensitivity and social anxiety. These mediation effects of sensory hypersensitivity were found only in autistic children, not in TD children.
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4. Bottema-Beutel K, Malloy C, Lloyd BP, Louick R, Joffe-Nelson L, Watson LR, Yoder PJ. {{Sequential Associations Between Caregiver Talk and Child Play in Autism Spectrum Disorder and Typical Development}}. {Child Dev};2017 (May 26)
This study examined sequential associations between child play and caregiver talk in 98 caregiver-child dyads (Mmental age = 14 months). Fifty dyads included a child with autism spectrum disorder (ASD). Analyses revealed sequential associations between child play and caregiver follow-in (FI) utterances (utterances related to the child’s attentional focus) were stronger in the ASD as compared to the typically developing (TD) group. FI utterances were more likely to elicit functional play than caregiver-focused utterances, and more so in the ASD group. Across groups, FI directives were more likely to elicit functional play than FI comments. These findings have important implications for research involving caregiver-child play as an early intervention context for children with ASD.
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5. Bradshaw J, Koegel LK, Koegel RL. {{Improving Functional Language and Social Motivation with a Parent-Mediated Intervention for Toddlers with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (May 23)
Recent research suggests that children with autism spectrum disorder (ASD) may now be reliably identified in later infancy, highlighting the need for empirically-validated interventions for infants and toddlers with early symptoms of ASD. Using a multiple baseline design across 15- to 21-month-old toddlers, this study implemented a brief, parent-mediated, Pivotal Response Treatment program, focusing on improving expressive communication. The results indicated that verbal communication improved as a consequence of the intervention, with concomitant improvements in untreated areas for all participants. Following the intervention, symptoms of autism decreased and parents reported satisfaction with the program’s ease of implementation and observed child gains. The results are discussed in terms of developing very early interventions to improve developmental trajectories for infants and toddlers.
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6. Cox DJ, Brown T, Ross V, Moncrief M, Schmitt R, Gaffney G, Reeve R. {{Can Youth with Autism Spectrum Disorder Use Virtual Reality Driving Simulation Training to Evaluate and Improve Driving Performance? An Exploratory Study}}. {J Autism Dev Disord};2017 (May 24)
Investigate how novice drivers with autism spectrum disorder (ASD) differ from experienced drivers and whether virtual reality driving simulation training (VRDST) improves ASD driving performance. 51 novice ASD drivers (mean age 17.96 years, 78% male) were randomized to routine training (RT) or one of three types of VRDST (8-12 sessions). All participants followed DMV behind-the-wheel training guidelines for earning a driver’s license. Participants were assessed pre- and post-training for driving-specific executive function (EF) abilities and tactical driving skills. ASD drivers showed worse baseline EF and driving skills than experienced drivers. At post-assessment, VRDST significantly improved driving and EF performance over RT. This study demonstrated feasibility and potential efficacy of VRDST for novice ASD drivers.
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7. Curtis A. {{Why Sex Education Matters for Adolescents with Autism Spectrum Disorder}}. {Am J Nurs};2017 (Jun);117(6):11.
A proactive approach may prevent inappropriate behaviors, sexual victimization.
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8. Custodio CS, Mello BSF, Filho A, de Carvalho Lima CN, Cordeiro RC, Miyajima F, Reus GZ, Vasconcelos SMM, Barichello T, Quevedo J, de Oliveira AC, de Lucena DF, Macedo DS. {{Neonatal Immune Challenge with Lipopolysaccharide Triggers Long-lasting Sex- and Age-related Behavioral and Immune/Neurotrophic Alterations in Mice: Relevance to Autism Spectrum Disorders}}. {Mol Neurobiol};2017 (May 23)
Early-life challenges, particularly infections and stress, are related to neuropsychiatric disorders such as autism and schizophrenia. Here, we conducted a wide range of behavioral tests in periadolescent (postnatal day (PN) 35) and adult (PN70) Swiss mice neonatally challenged with LPS on PN5 and -7, to unveil behavioral alterations triggered by LPS exposure. Immune and neurotrophic (brain-derived neurotrophic factor-BDNF) alterations were determined in the prefrontal cortex (PFC), hippocampus (HC), and hypothalamus (HT). Since the incidence and clinical manifestations of neurodevelopmental disorders present significant sex-related differences, we sought to distinctly evaluate male and female mice. While on PN35, LPS-challenged male mice presented depressive, anxiety-like, repetitive behavior, and working memory deficits; on PN70, only depressive- and anxiety-like behaviors were observed. Conversely, females presented prepulse inhibition (PPI) deficits in both ages studied. Behavioral changes in periadolescence and adulthood were accompanied, in both sexes, by increased levels of interleukin (IL-4) (PFC, HC, and HT) and decreased levels of IL-6 (PFC, HC, and HT). BDNF levels increased in both sexes on PN70. LPS-challenged male mice presented, in both ages evaluated, increased HC myeloperoxidase activity (MPO); while when adult increased levels of interferon gamma (IFNgamma), nitrite and decreased parvalbumin were observed. Alterations in innate immunity and parvalbumin were the main LPS-induced remarks between males and females in our study. We concluded that neonatal LPS challenge triggers sex-specific behavioral and neurochemical alterations that resemble autism spectrum disorder, constituting in a relevant model for the mechanistic investigation of sex bias associated with the development of this disorder.
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9. Freitag CM. {{[Genetic findings in autism spectrum disorders]}}. {Nervenarzt};2017 (May 23)
Autism spectrum disorders (ASD) are pervasive developmental disorders comprising problems in social interaction, communication, and stereotyped behavior and interests. They show a prevalence of around 0.8% in children, adolescents, and adults, and a skewed sex distribution (about 4:1 = male:female). ASD are predominantly genetically determined disorders. Heritability estimates from twin studies range between 64 and 91%. Recurrence risk in siblings is 20-fold elevated. De novo and inherited monogenetic disorders, mutations, sex chromosomal abnormalities, cytogenetic and imprinting disorders as well as common variants are associated with ASD. Genetic disorders implicating a specific additional intervention are of specific clinical relevance. Genetic testing and counselling should be provided for all families and individuals with ASD. This article gives an overview on current basic genetic research in ASD, its clinical relevance and genetic counselling in ASD.
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10. Hodges A, Davis T, Crandall M, Phipps L, Weston R. {{Using Shaping to Increase Foods Consumed by Children with Autism}}. {J Autism Dev Disord};2017 (May 23)
The current study used differential reinforcement and shaping to increase the variety of foods accepted by children with autism who demonstrated significant feeding inflexibility. Participants were introduced to four new food items via a hierarchical exposure, which involved systematically increasing the desired response with the food item. Level of food consumption was evaluated using a combined multiple baseline plus changing criterion design. Following intervention, all participants accepted all foods targeted, expanding upon the number of foods consumed.
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11. Isaksson J, Pettersson E, Kostrzewa E, Diaz Heijtz R, Bolte S. {{Brief Report: Association Between Autism Spectrum Disorder, Gastrointestinal Problems and Perinatal Risk Factors Within Sibling Pairs}}. {J Autism Dev Disord};2017 (May 23)
Autism spectrum disorder (ASD) has been associated with gastrointestinal (GI) problems, but the nature of this association is unclear. Parents to siblings, concordant or discordant for ASD (N = 217), participated in a web survey covering mother’s weight gain during pregnancy, maternal viral/bacterial infection and use of antibiotics, duration of breastfeeding, mode of delivery, birth weight and child GI problems. ASD was associated with GI problems and perinatal environmental risk, based on a summation of maternal infection and antibiotic use during pregnancy and/or the breastfeeding period. The association between GI problems and ASD remained within the sibling pairs (beta = 1.23; p < .001) in the adjusted model. Our results indicate non-shared environmental effects on the ASD/GI association, but none of the factors examined explained the link. Lien vers le texte intégral (Open Access ou abonnement)
12. Krishnaraj R, Ho G, Christodoulou J. {{RettBASE: Rett Syndrome Database Update}}. {Hum Mutat};2017 (May 25)
Rett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that primarily affects females. Mutations in the MECP2 gene have been attributed as the major genetic cause of Rett syndrome. Recently, mutations in CDKL5 and FOXG1 genes have also been suggested to give rise to Rett syndrome, although subsequent more extensive studies suggest that diseases resulting from mutations in these two genes should be considered as distinct clinical entities. While the genetic basis for the Rett syndrome has been recognized, so far there is no effective cure for the disease and the treatments available are mainly aimed at ameliorating clinical problems associated with the disorder. The swift identification of the mutations in children is crucial for pursuing the best therapeutic care. RettBASE was created in 2002 as a MECP2 variant database and has grown to become a comprehensive variant database for Rett syndrome and related clinical phenotypes, containing a curated collection of variants for MECP2, CDKL5 and FOXG1 genes. Here we describe the development and growth of RettBASE after its inception in 2001. Currently, RettBASE holds a total of 4668 variants in MECP2, 498 variants in CDKL5 and 64 variants in FOXG1. This article is protected by copyright. All rights reserved.
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13. Kwon HJ, Yoo HJ, Kim JH, Noh DH, Sunwoo HJ, Jeon YS, Lee SY, Jo YU, Bong GY. {{Re-adjusting the cut-off score of the Korean version of the Childhood Autism Rating Scale for high-functioning individuals with autism spectrum disorder}}. {Psychiatry Clin Neurosci};2017 (May 26)
AIM: The current cut-off score of the Korean version of the Childhood Autism Rating Scale(K-CARS) does not seem sensitive enough to precisely diagnose high-functioning autism. The aim of this study was to identify the optimal cut-off score of K-CARS for diagnosing high-functioning individuals with Autism Spectrum Disorders(ASD). METHODS: A total of 329 participants were assessed by the Korean versions of the Autism Diagnostic Interview – Revised (K-ADI-R), Autism Diagnostic Observation Schedule (K-ADOS), and K-CARS. Intelligence quotient (IQ) and Social Maturity Scale (SMS; SQ) scores were also obtained. RESULTS: True positive and false negative rates of K-CARS were 77.2% and 22.8%, respectively. Verbal Intelligent Quotient and Social Quotient were significant predictors of misclassification. The false negative rate increased to 36.0% from 19.8% when VIQ > 69.5, and the rate increased to 44.1% for participants with VIQ > 69.5 and SQ > 75.5. In addition, if SQ > 83.5, the false negative rate increased to 46.7%, even if the participant’s VIQ <== 69.5. Optimal cut-off scores were 28.5(for VIQ <== 69.5 and SQ <==75.5), 24.25(for VIQ > 69.5 and SQ >75.5), and 24.5(for SQ > 83.5), respectively. CONCLUSION: The likelihood of a false negative error increases when K-CARS is used to diagnose high-functioning autism and Asperger’s Syndrome. For subjects with ASD and substantial verbal ability, the cut-off score for K-CARS should be re-adjusted and/or supplementary diagnostic tools might be needed to enhance diagnostic accuracy for ASD.
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14. Liu J, Mo W, Zhang Z, Yu H, Yang A, Qu F, Hu P, Liu Z, Wang S. {{Single Nucleotide Polymorphisms in SLC19A1 and SLC25A9 Are Associated with Childhood Autism Spectrum Disorder in the Chinese Han Population}}. {J Mol Neurosci};2017 (May 24)
Genetic variants have been implicated in the development of autism spectrum disorder (ASD). Recent studies suggest that solute carriers (SLCs) may play a role in the etiology of ASD. This purpose of this study was to determine the association between single nucleotide polymorphisms (SNPs) in SLC19A1 and SLC25A12 genes with childhood ASD in a Chinese Han population. A total of 201 autistic children and 200 age- and gender-matched healthy controls were recruited. A TaqMan probe-based real-time PCR approach was used to determine genotypes of SNPs corresponding to rs1023159 and rs1051266 in SLC19A1, and rs2056202 and rs2292813 in SLC25A12. Our results showed that both the T/T genotype of rs1051266 (odds ratio (OR) = 1.85, 95% confidence interval (CI) = 1.06-3.23, P = 0.0301) and the T allele (OR = 1.77, 95% CI = 1.07-2.90, P = 0.0249) of rs2292813 were significantly associated with an increased risk of childhood ASD. In addition, the G-C haplotype of rs1023159-rs1051266 in SCL19A1 (OR = 0.71, 95% CI = 0.51-0.98, P = 0.0389) and C-C haplotype of rs2056202-rs2292813 in SLC25A12 (OR = 0.58, 95% CI = 0.35-0.96, P = 0.0325) were associated with decreased risks of childhood ASD. There was no significant association between genotypes and allele frequencies with the severity of the disease. Our study suggests that these genetic variants of SLC19A1 and SLC25A12 may be associated with risks for childhood ASD.
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15. Louzolo A, Gustavsson P, Tigerstrom L, Ingvar M, Olsson A, Petrovic P. {{Delusion-proneness displays comorbidity with traits of autistic-spectrum disorders and ADHD}}. {PLoS One};2017;12(5):e0177820.
There is an increasing body of evidence suggesting a significant comorbidity between psychotic disorders such as schizophrenia and attention-deficit/hyperactivity disorder (ADHD) or autism-spectrum disorders (ASD). Recently, research on psychosis-proneness in otherwise healthy individuals has been a promising way to better understand the mechanisms underlying psychosis. As both ADHD and ASD symptoms show a normal distribution in the general population, such trait comorbidity may confound studies on psychosis-proneness. Thus, understanding the extent to which psychosis-proneness relates to ADHD and ASD symptoms in healthy subjects is crucial for studies focusing on at-risk or psychosis-prone populations. In the present paper we tested the robustness of overlap between psychosis-proneness and ADHD/ASD symptoms, by studying correlations between the scores of three commonly-used questionnaires assessing delusion-proneness (Peters’ Delusion Inventory), ADHD tendencies (Adult ADHD Self-Report Scale) and ASD tendencies (Autism Quotient), on a large sample of healthy individuals (n = 925) using raw scores, prototypical questions and a factor analysis. The results showed consistently positive correlations between psychosis-proneness and ADHD-, as well as ASD-symptoms. While the effect was weak for ASD, it was moderate for ADHD. The findings support the idea that when investigating psychosis-proneness it is crucial to also take ADHD- and ASD-tendencies into account, in order to conclude that the reported results in a given study are specific to psychosis-proneness. The observed trait correlations also suggest a common pathway in the underlying information processing of these states.
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16. Lyra L, Rizzo LE, Sunahara CS, Pachito DV, Latorraca COC, Martimbianco ALC, Riera R. {{What do Cochrane systematic reviews say about interventions for autism spectrum disorders?}}. {Sao Paulo Med J};2017 (Mar-Apr);135(2):192-201.
CONTEXT AND OBJECTIVE:: Autism spectrum disorders (ASDs) include autistic disorder, Asperger’s disorder and pervasive developmental disorder. The manifestations of ASDs can have an important impact on learning and social functioning that may persist during adulthood. The aim here was to summarize the evidence from Cochrane systematic reviews on interventions for ASDs. DESIGN AND SETTING:: Review of systematic reviews, conducted within the Discipline of Evidence-Based Medicine, Escola Paulista de Medicina, Universidade Federal de Sao Paulo. METHODS:: We included and summarized the results from Cochrane systematic reviews on interventions for ASDs. RESULTS:: Seventeen reviews were included. These found weak evidence of benefits from acupuncture, gluten and casein-free diets, early intensive behavioral interventions, music therapy, parent-mediated early interventions, social skill groups, Theory of Mind cognitive model, aripiprazole, risperidone, tricyclic antidepressants and selective serotonin reuptake inhibitors (SSRI); this last only for adults. No benefits were found for sound therapies, chelating agents, hyperbaric oxygen therapy, omega-3, secretin, vitamin B6/magnesium and SSRI for children. CONCLUSION:: Acupuncture, gluten and casein-free diets, early intensive behavioral interventions, music therapy, parent-mediated early interventions, social skill groups and the Theory of Mind cognitive model seem to have benefits for patients with autism spectrum disorders (very low to low-quality evidence). Aripiprazole, risperidone, tricyclic antidepressants and SSRI (this last only for adults) also showed some benefits, although associated with higher risk of adverse events. Experimental studies to confirm a link between probable therapies and the disease, and then high-quality long-term clinical trials, are needed.
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17. Milne E, Dickinson A, Smith R. {{Adults with autism spectrum conditions experience increased levels of anomalous perception}}. {PLoS One};2017;12(5):e0177804.
Autism spectrum condition (ASC) is characterised by differences in social interaction and behavioural inflexibility. In addition to these core symptoms, atypical sensory responses are prevalent in the ASC phenotype. Here we investigated anomalous perception, i.e. hallucinatory and/or out of body experiences in adults with ASC. Thirty participants with an ASC diagnosis and thirty neurotypical controls completed the Cardiff Anomalous Perception Scale (CAPS) and the Social Responsiveness Scale (SRS-2). The CAPS is a 32-item questionnaire that asks participants to indicate whether or not they experience a range of anomalous and out of body experiences, and to rate how intrusive and distressing these experiences are. The SRS-2 asks participants to rate the extent to which they identify with a series of 65 statements that describe behaviours associated with the autism phenotype. We found that total CAPS score was significantly higher in the participants with ASC (mean = 14.8, S.D. = 7.9) than the participants without ASC (mean = 3.6, S.D. = 4.1). In addition, the frequency of anomalous perception, the level of distraction and the level of distress associated with the experience were significantly increased in participants with ASC. Importantly, both the frequency of anomalous perceptual experiences and the level of distress caused by anomalous perception in this sample of adults with ASC were very similar to that reported previously in a sample of non-autistic participants who were being treated in hospital for a current psychotic episode. These data indicate that anomalous perceptual experiences are common in adults with ASC and are associated with a high level of distress. The origins of anomalous perception in ASC and the implication of this phenomenon are considered.
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18. Ni HC, Hung J, Wu CT, Wu YY, Chang CJ, Chen RS, Huang YZ. {{The Impact of Single Session Intermittent Theta-Burst Stimulation over the Dorsolateral Prefrontal Cortex and Posterior Superior Temporal Sulcus on Adults with Autism Spectrum Disorder}}. {Front Neurosci};2017;11:255.
Intermittent theta burst stimulation (iTBS), a patterned repetitive transcranial magnetic stimulation, was applied over the posterior superior temporal sulcus (pSTS) or dorsolateral prefrontal cortex (DLPFC) to explore its impact in adults with autism spectrum disorder (ASD). Among 25 adults with ASD, 19 (mean age: 20.8 years) completed the randomized, sham-controlled, crossover trial. Every participant received iTBS over the bilateral DLPFC, bilateral pSTS and inion (as a sham control stimulation) in a randomized order with a 1-week interval. Neuropsychological functions were assessed using the Conners’ Continuous Performance Test (CCPT) and the Wisconsin Card Sorting Test (WCST). Behavioral outcomes were measured using the Yale-Brown Obsessive Compulsive Scale (Y-BOCS) and the Social Responsiveness Scale (SRS). In comparison to that in the sham stimulation, the reaction time in the CCPT significantly decreased following single DLPFC session (p = 0.04, effect size = 0.71) while there were no significant differences in the CCPT and WCST following single pSTS session. Besides, the results in behavioral outcomes were inconsistent and had discrepancy between reports of parents and patients. In conclusion, a single session of iTBS over the bilateral DLPFC may alter the neuropsychological function in adults with ASD. The impacts of multiple-sessions iTBS over the DLPFC or pSTS deserve further investigations.
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19. Nobusako S, Nishi Y, Nishi Y, Shuto T, Asano D, Osumi M, Morioka S. {{Transcranial Direct Current Stimulation of the Temporoparietal Junction and Inferior Frontal Cortex Improves Imitation-Inhibition and Perspective-Taking with no Effect on the Autism-Spectrum Quotient Score}}. {Front Behav Neurosci};2017;11:84.
Lesions to brain regions such as the temporoparietal junction (TPJ) and inferior frontal cortex (IFC) are thought to cause autism-spectrum disorder (ASD). Previous studies indicated that transcranial direct current stimulation (tDCS) of the right TPJ improves social cognitive functions such as imitation-inhibition and perspective-taking. Although previous work shows that tDCS of the right IFC improves imitation-inhibition, its effects on perspective-taking have yet to be determined. In addition, the role of the TPJ and IFC in determining the Autism-Spectrum Quotient (AQ), which is a measure of autism spectrum traits, is still unclear. Thus, the current study performed tDCS on the right TPJ and the right IFC of healthy adults, and examined its effects on imitation-inhibition, perspective-taking and AQ scores. Based on previous studies, we hypothesized that anodal tDCS of the right IFC and right TPJ would improve imitation-inhibition, perspective-taking and the AQ score. Anodal tDCS of the right TPJ or IFC significantly decreased the interference effect in an imitation-inhibition task and the cost of perspective-taking in a perspective-taking task, in comparison to the sham stimulation control. These findings indicated that both the TPJ and the IFC play a role in imitation-inhibition and perspective-taking, i.e., control of self and other representations. However, anodal stimulation of the right TPJ and the right IFC did not alter participants’ AQ. This finding conflicts with results from previous brain imaging studies, which could be attributed to methodological differences such as variation in sex, age and ASD. Therefore, further research is necessary to determine the relationship between the TPJ and IFC, and the AQ.
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20. Radley KC, Dart EH, Moore JW, Lum JDK, Pasqua J. {{Enhancing appropriate and variable responding in young children with autism spectrum disorder}}. {Dev Neurorehabil};2017 (May 24):1-11.
OBJECTIVE: The present study utilized lag schedules of reinforcement, in conjunction with training multiple exemplars and provision of prompts, to promote appropriate variability of social skills. METHODS: Participants included in three children between the ages of 5 and 7 with ASD. Participants attended a social skills training program twice per week for eight weeks. A multiple probe design across target social skills was used to assess the effects of intervention. RESULTS: Findings indicate that training multiple exemplars alone did not appreciably increase appropriate and variable responding, whereas the addition of lag schedules of reinforcement and prompting to training multiple exemplars resulted in appropriate and variable responding that exceeded baseline levels. CONCLUSION: Use of lag schedule of reinforcement in conjunction with prompts was more effective than multiple exemplar training in isolation for increasing appropriate variability of social skills.
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21. Reines V, Charen K, Rosser T, Eisen A, Sherman SL, Visootsak J. {{Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome}}. {J Genet Couns};2017 (May 24)
Research studies focusing on parents’ perspectives of pharmacological clinical trials have not kept pace with the number of emerging pharmacologic clinical trials in Down syndrome (DS) and Fragile X syndrome (FXS). Since individuals with DS or FXS have limited cognitive ability to make decisions about their participation in clinical trials, it is important to consider the parents’ perspectives and explore the ways in which decisions are made for their children. Using a semi-structured interview, we enrolled 9 parents of a child(ren) with FXS and 15 with a child with DS to analyze their views, experiences, and knowledge of pharmacological clinical trials. Although our study is preliminary in nature, it revealed that parents are generally supportive of pharmacological clinical trials, yet there may be concerns about safety and long-term implications and consideration for their child in the decision process. There is also parental misunderstanding of the objectives of pharmacological clinical trials; thus, it is important for pharmaceutical companies, study investigators, clinicians/medical professionals, and parent advocacy groups to collaborate to provide appropriate and up-to-date educational resources that fully explain the risks and benefits of clinical trials.
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22. Retico A, Arezzini S, Bosco P, Calderoni S, Ciampa A, Coscetti S, Cuomo S, De Santis L, Fabiani D, Fantacci ME, Giuliano A, Mazzoni E, Mercatali P, Miscali G, Pardini M, Prosperi M, Romano F, Tamburini E, Tosetti M, Muratori F. {{ARIANNA: A research environment for neuroimaging studies in autism spectrum disorders}}. {Comput Biol Med};2017 (May 17);87:1-7.
The complexity and heterogeneity of Autism Spectrum Disorders (ASD) require the implementation of dedicated analysis techniques to obtain the maximum from the interrelationship among many variables that describe affected individuals, spanning from clinical phenotypic characterization and genetic profile to structural and functional brain images. The ARIANNA project has developed a collaborative interdisciplinary research environment that is easily accessible to the community of researchers working on ASD (https://arianna.pi.infn.it). The main goals of the project are: to analyze neuroimaging data acquired in multiple sites with multivariate approaches based on machine learning; to detect structural and functional brain characteristics that allow the distinguishing of individuals with ASD from control subjects; to identify neuroimaging-based criteria to stratify the population with ASD to support the future development of personalized treatments. Secure data handling and storage are guaranteed within the project, as well as the access to fast grid/cloud-based computational resources. This paper outlines the web-based architecture, the computing infrastructure and the collaborative analysis workflows at the basis of the ARIANNA interdisciplinary working environment. It also demonstrates the full functionality of the research platform. The availability of this innovative working environment for analyzing clinical and neuroimaging information of individuals with ASD is expected to support researchers in disentangling complex data thus facilitating their interpretation.
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23. Righi G, Benevides J, Mazefsky C, Siegel M, Sheinkopf SJ, Morrow EM. {{Predictors of Inpatient Psychiatric Hospitalization for Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (May 23)
Autism Spectrum Disorder (ASD) is associated with significant healthcare expenditures and a greater utilization of psychiatric health services. High utilization may not be evenly distributed across individuals with ASD. The objective of this study was to identify individual and family characteristics that increase the risk of psychiatric hospitalization. Naturalistic study of two age- and gender-matched ASD cohorts, inpatients enrolled in the Autism Inpatient Collection (AIC) and outpatients enrolled in the Rhode Island Consortium of Autism Research and Treatment (RI-CART), revealed a number of factors associated with hospitalization. Multiple logistic regression analyses revealed that adaptive functioning, ASD symptom severity, primary caregiver’s marital status, the presence of mood disorders, and the presence of sleep problems independently increased the risk of psychiatric hospitalization.
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24. Rudra A, Belmonte MK, Soni PK, Banerjee S, Mukerji S, Chakrabarti B. {{Prevalence of autism spectrum disorder and autistic symptoms in a school-based cohort of children in Kolkata, India}}. {Autism Res};2017 (May 25)
Despite housing approximately 18% of the world’s population, India does not yet have an estimate of prevalence of autism. This study was carried out to estimate the prevalence of autism in a selected population of school-children in India. N = 11,849 children (mean age = 5.9 [SD = 1.3], 39.5% females) were selected from various school types from three boroughs in Kolkata, India. Parents/caregivers and teachers filled in the social and communication disorders checklist (SCDC). Children meeting cutoff on parent-reported SCDC were followed up with the social communication questionnaire (SCQ). SCQ-positive children were administered the autism diagnostic observation schedule (ADOS). Teacher report on SCDC was available on all 11,849 children. Parent-report SCDC scores were obtained for 5,947 children. Mean scores on teacher SCDC were significantly lower than parent SCDC. Out of 1,247 SCDC-positive children, 882 answered the SCQ, of whom 124 met the cutoff score of 15. Six of these children met criteria for autism, autism spectrum disorder (ASD), or broader autism spectrum on the ADOS. The weighted estimate of supra-threshold SCQ scores was 3.54% (CI: 2.88-4.3%). The weighted prevalence estimate of positive scores (for broader autism spectrum + ASD + autism) was 0.23% (0.07-0.46%). As approximately 20% children in this state are known to be out of the school system, and ASD prevalence is likely to be higher in this group, this estimate is likely to represent the lower-bound of the true prevalence. This study provides preliminary data on the prevalence of broader-spectrum autism and supra-threshold autistic traits in a population sample of school children in Eastern India. Autism Res 2017. (c)2017 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
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25. Scott M, Jacob A, Hendrie D, Parsons R, Girdler S, Falkmer T, Falkmer M. {{Employers’ perception of the costs and the benefits of hiring individuals with autism spectrum disorder in open employment in Australia}}. {PLoS One};2017;12(5):e0177607.
Research has examined the benefits and costs of employing adults with autism spectrum disorder (ASD) from the perspective of the employee, taxpayer and society, but few studies have considered the employer perspective. This study examines the benefits and costs of employing adults with ASD, from the perspective of employers. Fifty-nine employers employing adults with ASD in open employment were asked to complete an online survey comparing employees with and without ASD on the basis of job similarity. The findings suggest that employing an adult with ASD provides benefits to employers and their organisations without incurring additional costs.
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26. Shou G, Mosconi MW, Wang J, Ethridge LE, Sweeney JA, Ding L. {{Electrophysiological signatures of atypical intrinsic brain connectivity networks in autism}}. {J Neural Eng};2017 (May 25);14(4):046010.
OBJECTIVE: Abnormal local and long-range brain connectivity have been widely reported in autism spectrum disorder (ASD), yet the nature of these abnormalities and their functional relevance at distinct cortical rhythms remains unknown. Investigations of intrinsic connectivity networks (ICNs) and their coherence across whole brain networks hold promise for determining whether patterns of functional connectivity abnormalities vary across frequencies and networks in ASD. In the present study, we aimed to probe atypical intrinsic brain connectivity networks in ASD from resting-state electroencephalography (EEG) data via characterizing the whole brain network. APPROACH: Connectivity within individual ICNs (measured by spectral power) and between ICNs (measured by coherence) were examined at four canonical frequency bands via a time-frequency independent component analysis on high-density EEG, which were recorded from 20 ASD and 20 typical developing (TD) subjects during an eyes-closed resting state. MAIN RESULTS: Among twelve identified electrophysiological ICNs, individuals with ASD showed hyper-connectivity in individual ICNs and hypo-connectivity between ICNs. Functional connectivity alterations in ASD were more severe in the frontal lobe and the default mode network (DMN) and at low frequency bands. These functional connectivity measures also showed abnormal age-related associations in ICNs related to frontal, temporal and motor regions in ASD. SIGNIFICANCE: Our findings suggest that ASD is characterized by the opposite directions of abnormalities (i.e. hypo- and hyper-connectivity) in the hierarchical structure of the whole brain network, with more impairments in the frontal lobe and the DMN at low frequency bands, which are critical for top-down control of sensory systems, as well as for both cognition and social skills.
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27. Smith IM, MacDonald NE. {{Countering evidence denial and the promotion of pseudoscience in autism spectrum disorder}}. {Autism Res};2017 (May 22)
This commentary introduces a framework within which clinical and research experts in autism spectrum disorder (ASD) can address public instances of evidence denial and promotion of pseudoscience related to ASD. This is a generalized extension of work by a World Health Organization (WHO) group dedicated to reducing the influence of Vocal Vaccine Deniers through educating advocates in how to effectively defuse their arguments. The WHO guidelines were informed by conceptual work on the « denialism » phenomenon, and by studies in psychology, communication, vaccine science, and public health. Our goal is to introduce these ideas to, and encourage discussion within, the ASD research community. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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28. Stevenson JL, Lindley CE, Murlo N. {{Retrospectively Assessed Early Motor and Current Pragmatic Language Skills in Autistic and Neurotypical Children}}. {Percept Mot Skills};2017 (Jan 01):31512517710379.
Autistic individuals often struggle developmentally, even in areas that are not explicit diagnostic criteria, such as motor skills. This study explored the relation between early motor skills, assessed retrospectively, and current pragmatic language skills. Caregivers of neurotypical and autistic children, matched on gender and age, completed assessments of their child’s early motor development and current language abilities. Early motor skills were correlated with later pragmatic language skills, and autistic children exhibited fewer motor skills than neurotypical children. In fact, motor skills were a better predictor of an autism spectrum diagnosis than were scores on a measure of current pragmatic language. These results highlight the important role of motor skills in autism spectrum disorders.
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29. Wang S, Yang C, Liu Y, Shao Z, Jackson T. {{Early and late stage processing abnormalities in autism spectrum disorders: An ERP study}}. {PLoS One};2017;12(5):e0178542.
This research assessed event-related potentials (ERPs) elicited during the processing of different kinds of visual stimuli among children with Autism Spectrum Disorder (ASD) (n = 15) and typically developing (TD) children (n = 19). Within a simple visual oddball paradigm, participating children passively viewed fruit and vegetable images that were used as standard stimuli in addition to images of these foods with their usual colors modified to create novel stimuli and cartoon depictions of these images (i.e., « deviant » stimuli). Analyses revealed significant main effect differences between the groups for P100, N100 and P300 components; ASD group children showing longer P100 latencies, weaker N100 amplitudes and larger P300 amplitudes than did the TD group. A Group x Hemisphere interaction also emerged for N400 amplitudes but differences were not significant in simple-effects analyses. Together these results suggested children with ASD may be characterized by lower attention resource allocation and engagement during early stages of processing visual stimuli. However, ERPs in later processing stages suggested children with ASD and TD children have similar neural responses in attending to visual images as stimulus presentations continue.
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30. Weinstein V, Tanpaiboon P, Chapman KA, Ah Mew N, Hofherr S. {{Do the data really support ordering fragile X testing as a first-tier test without clinical features?}}. {Genet Med};2017 (May 25)
PurposeCurrent guidelines recommend first-tier chromosome microarray analysis (CMA) and fragile X syndrome (FX) testing for males with isolated intellectual disabilities/learning delay (ID/LD) and autism spectrum disorders (ASDs).MethodsMales in our clinic with ID/LD or ASD (310) were analyzed for positive results from CMA and/or FX testing.ResultsCMA detected abnormalities in 29% of males with ID/LD and only 9% of males with ASD (including variants of uncertain significance and absence of heterozygosity). When males with ID/LD were tested for FX, the detection rate was 2.5% (2 of 80). Both patients had dysmorphic features and maternal family history. No males with ASD had positive FX test results.ConclusionsThe detection rate of CMA in males with isolated ID/LD in this study was higher than in the literature (10-20%). CMA results for males with ASD (9%) and FX testing for males with ID/LD (2.5%) overlap with the literature (7-10% and 2%, respectively). The yield of FX testing for patients with ASD was zero, which is close to that of the literature (0.5-2%). These results suggest that FX testing as a first-tier test may not be necessary, unless other criteria suggest FX.GENETICS in MEDICINE advance online publication, 25 May 2017; doi:10.1038/gim.2017.64.
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31. Westwood H, Tchanturia K. {{Autism Spectrum Disorder in Anorexia Nervosa: An Updated Literature Review}}. {Curr Psychiatry Rep};2017 (Jul);19(7):41.
PURPOSE OF REVIEW: There is growing interest in the relationship between anorexia nervosa (AN) and autism spectrum disorder (ASD). This review aimed to synthesise the most recent research on this topic to identify gaps in current knowledge, directions for future research and reflect on implications for treatment. RECENT FINDINGS: Eight studies assessing the presence of ASD in AN were identified in the literature along with three studies examining the impact of symptoms of ASD on treatment outcome. Research with young people and using parental-report measures suggest lower rates of co-morbidity than previous adult studies. CONCLUSIONS: The wide range of diagnostic tools, methodologies and populations studied make it difficult to determine the prevalence of ASD in AN. Despite this, studies consistently report over-representation of symptoms of ASD in AN. Co-morbid AN and ASD may require more intensive treatment or specifically tailored interventions. Future longitudinal research and female-specific diagnostic tools would help elucidate the relationship between these two disorders.
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32. Whitehouse AJO, Granich J, Alvares G, Busacca M, Cooper MN, Dass A, Duong T, Harper R, Marshall W, Richdale A, Rodwell T, Trembath D, Vellanki P, Moore DW, Anderson A. {{A randomised controlled trial of an iPad-based application to complement early behavioural intervention in Autism Spectrum Disorder}}. {J Child Psychol Psychiatry};2017 (May 25)
BACKGROUND: Technology-based interventions for Autism Spectrum Disorder (ASD) have proliferated, but few have been evaluated within the context of a randomised controlled trial (RCT). This RCT evaluated the efficacy of one technology-based early intervention programme (Therapy Outcomes By You; TOBY) in young children with ASD. METHODS: TOBY is an app-based learning curriculum designed for children and parents as a complement to early behavioural intervention. Eighty children (16 female) were recruited to this RCT within 12 months of receiving a diagnosis of ASD (M age = 3.38; SD = 0.69) and randomised to receive either treatment-as-usual (community-based intervention, n = 39) or the TOBY therapy (at least 20 min/day) plus treatment-as-usual (n = 41) for a period of 6 months. Outcomes were assessed at 3 and 6 months postbaseline. (Australian New Zealand Clinical Trials Registry: ACTRN12614000738628; www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=365463). RESULTS: Children in the TOBY intervention group averaged 19 min/day engaging with the app in the first 3 months, but only 2 min/day during the second 3 months. There was no group difference in scores on the primary outcome, the Autism Treatment Evaluation Checklist, at either the 3- or 6-month follow-up. However, significant improvements at the 6-month follow-up were observed in the TOBY intervention group relative to the treatment-as-usual group on three secondary outcomes: the Fine Motor and Visual Reception subscales of the Mullen Scale of Early Learning and the Total Words Understood scale of the MacArthur-Bates Communicative Development Index. Statistical trends towards improvement in the TOBY intervention group were observed on measures of adaptive function, although these decreased in magnitude from the 3- to 6-month follow-up. CONCLUSIONS: This study provides evidence that technology-based interventions may provide a relatively low-cost addition to existing therapist-delivered interventions for children with ASD. However, sustained use of the app over the full 6-month period was a challenge for most families.
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33. Wu Z, Qin J, You Y, Ma Y, Jia M, Wang L, Lu T, Yue W, Ruan Y, Zhang D, Li J, Wang L. {{Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population}}. {Sci Rep};2017 (May 23);7(1):2292.
Multiple epidermal growth factor-like-domains 10 (MEGF10), a critical member of the apoptotic engulfment pathway, mediates axon pruning and synapse elimination during brain development. Previous studies indicated that synaptic pruning deficit was associated with autism-related phenotypes. However, the relationship between MEGF10 and autism remains poorly understood. Disease-associated variants are significantly enriched in the transcription regulatory regions. These include the transcription start site (TSS) and its cis-regulatory elements. To investigate the role of MEGF10 variants with putative transcription regulatory function in the etiology of autism, we performed a family-based association study in 410 Chinese Han trios. Our results indicate that three single nucleotide polymorphisms (SNPs), rs4836316, rs2194079 and rs4836317 near the TSS are significantly associated with autism following Bonferroni correction (p = 0.0011, p = 0.0088, and p = 0.0023, respectively). Haplotype T-A-G (rs4836316-rs2194079-rs4836317) was preferentially transmitted from parents to affected offspring (p permutation = 0.0055). Consistently, functional exploration further verified that the risk allele and haplotype might influence its binding with transcription factors, resulting in decreased transcriptional activity of MEGF10. Our findings indicated that the risk alleles and haplotype near the MEGF10 TSS might modulate transcriptional activity and increase the susceptibility to autism.
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34. Yang C, Zhao W, Deng K, Zhou V, Zhou X, Hou Y. {{The association between air pollutants and autism spectrum disorders}}. {Environ Sci Pollut Res Int};2017 (May 24)
Autism spectrum disorders are a member of the pervasive developmental disorders (PDDs) that have been increasing dramatically since described by Leo Kanner in 1943. In the past decade, the number of epidemiological publications addressing air pollution exposures and autism has grown correspondingly, but the association is still unclear. Whether air pollutants play a causal role and which substances are related with autism requires further study. We systematically reviewed the literature from 2005 to 2016 in MEDLINE (National Library of Medicine), Web of Science, and PubMed and summarized the association between different air pollutants and autism. Furthermore, we further discussed the exposure time window and potential confounders that should be considered in the association analysis studies. Our objective is to summarize the association between different air pollutants and autism with literature, which has been published since 2005, and explore whether the exposure time window and potential confounders have influence on this association. These results could provide more comprehensive information about the association between air pollutants and autism and be helpful towards further validation study. Graphical abstract .
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35. Zarafshan H, Salmanian M, Aghamohammadi S, Mohammadi MR, Mostafavi SA. {{Effectiveness of Non-Pharmacological Interventions on Stereotyped and Repetitive Behaviors of Pre-school Children With Autism: A Systematic Review}}. {Basic Clin Neurosci};2017 (Mar-Apr);8(2):95-103.
INTRODUCTION: The present study aimed to review the literature on non-pharmacological interventions used to treat stereotyped and repetitive behaviors by a systematic method. METHODS: Two authors independently performed a search strategy on Medline/PubMed, Scopus and PsycINFO on English articles published up to April 23, 2014 with relevant search keywords. We also reviewed the bibliographies of retrieved articles and conference proceedings to obtain additional citations and references. We examined those articles that addressed non-pharmacological interventions on reducing stereotyped and repetitive behaviors in preschool children with autism. Four independent reviewers screened relevant articles for inclusion criteria and assessed the quality of eligible articles with CONSORT checklist. RESULTS: In our search, 664 relevant articles were found. After removing duplicates and screening based on title, abstract, and full text, 15 high-quality studies were finally included in data analyses. The included articles were published from 1987 to 2013. Three studies were designed as A-B, two as A-B-A, and reminders as A-B-A-B. The data and results of 3 clinical trials were synthesized; two of them were parallel randomized clinical trial and another one was designed as cross-over. Interventions were completely heterogeneous in case studies, including non-contingent auditory stimulation, response interruption and redirection, teaching the children to request assistance on difficult tasks, family-implemented treatment for behavioral inflexibility with treatment approach, vocal or motor response interruption and redirection, brushing, water mist treatment, exposure response prevention, tangible reinforcement or social reinforcement, and music. Interventions in clinical trials included touch therapy, kata techniques training program, and aerobic exercise. CONCLUSION: The results of our review indicate that different kinds of non-pharmacological interventions can be used to treat repetitive behaviors in children with autism; however, sufficient evidence for their effectiveness does not exist. Future research using more precise methods (RCTs) can clarify which methods and techniques are effective in reducing repetitive behavior of children with autism.
