1. Bakroon A, Lakshminarayanan V. {{Visual function in autism spectrum disorders: a critical review}}. {Clin Exp Optom};2016 (May 10)
Studies have shown considerable evidence of visual dysfunction in autism spectrum disorders. Anomalies in visual information processing can have a major effect on the life quality of individuals with autism spectrum disorders. We summarise the hypotheses and theories underlying neural aetiologies and genetic factors that cause these disorders, as well as the possible influences of unusual sensory possessing on the communications and behaviour characterised by the autistics. In particular, we review the impact of these dysfunctions on visual performance.
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2. Chezan LC, Drasgow E, Martin CA, Halle JW. {{Negatively-Reinforced Mands: An Examination of Resurgence to Existing Mands in Two Children With Autism and Language Delays}}. {Behav Modif};2016 (May 9)
In this study, we extended the literature on negatively-reinforced mands by teaching multiple novel, socially appropriate alternative mands to two young children with autism spectrum disorder (ASD). First, we replaced existing mands (e.g., pushing away) with two novel, socially appropriate, negatively-reinforced mands. Next, we examined responding under immediate- and delayed-reinforcement conditions to assess resurgence to existing mands and to determine whether the function of the communicative behavior influences the consistency with which different mands are emitted. Finally, we examined generalization to different social partners. Our data suggest that both children acquired the new mands and used them to avoid nonpreferred items. Resurgence to existing mands during delayed-reinforcement conditions was documented for one child, and the sequence in which mands were emitted within a response class was not influenced by the function of the communicative behavior. Generalization data indicate that both children emitted the new mands and one of the two children alternated between the two mands with a social partner who was not involved in the training. We discuss the importance of teaching multiple negatively-reinforced alternative mands to children with autism in applied settings.
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3. Corbett BA, Blain SD, Ioannou S, Balser M. {{Changes in anxiety following a randomized control trial of a theatre-based intervention for youth with autism spectrum disorder}}. {Autism};2016 (May 5)
Increased anxiety and stress are frequently found in children with autism spectrum disorder and are associated with social challenges. Recently, we reported changes in social competence following peer-mediated, theatre-based intervention. The purpose of this study was to examine the impact of the intervention on reducing anxiety and stress. Participants included 30 youth with autism spectrum disorder (8-14 years old) randomly assigned to the experimental (17) or waitlist control (13) group. Pretest adjusted, between-group differences were analyzed for state-anxiety, trait-anxiety, play-based cortisol, and diurnal cortisol. Pearson correlations were conducted between anxiety, cortisol, and group play. Significant pretest-adjusted between-group differences at posttest were observed on trait-anxiety (F(1, 27) = 9.16, p = 0.005) but not state-anxiety (F(1, 27) = 0.03, p = 0.86), showing lower trait-anxiety in the experimental group. There were no between-group differences on cortisol. There was a significant negative correlation between group play and trait-anxiety (r = -0.362, p = 0.05). Playground cortisol correlated with group play, for the experimental group (r = 0.55, p = 0.03). The theatre-based, peer-mediated intervention not only contributes to improvement in social competence in youth with autism spectrum disorder but also contributes to reductions in trait-anxiety associated with more social interaction with peers. Results suggest that some degree of physiological arousal is essential for social interaction.
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4. Coskun S, Simsek S, Camkurt MA, Cim A, Celik SB. {{Association of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorder}}. {Gene};2016 (May 4)
Vitamin D is implicated in several aspects of human physiology, and polymorphisms in the vitamin D receptor gene (VDR) are associated with a variety of neuropsychiatric disorders. The aims of this study are to determine whether VDR polymorphisms are associated with autism spectrum disorder (ASD), to examine serum 25-hydroxyvitamin D (25(OH)D) levels in ASD, and to explore whether VDR polymorphisms influence serum 25(OH)D levels. We investigated 480 subjects (237 children with ASD and 243 healthy controls) for the following VDR polymorphisms: TaqI, BsmI, FokI, ApaI, and Cdx2.Within the same samples, 25(OH)D levels were available only for 85 patients and 82 controls. The Cdx-2 variation was shown to deviate from Hardy-Weinberg equilibrium in the controls and was therefore excluded from the study. We found that the frequency of rare FokI TT, TaqI CC, and BsmI AA genotypes differed significantly between children with ASD and the controls (p=0.042, p=0.016, p=0.038, respectively). After correction for multiple testing, only the TaqI CC genotype remained significant. Further analysis using a recessive model showed that rare genotypes of these polymorphisms were significantly higher in patients compared to controls (p=0.045, p=0.005 and p=0.031, respectively). However, no significant association was found between ApaI and ASD. We found serum 25(OH)D levels to be significantly higher in children with ASD (p<0.001) and that the FokI polymorphism had an effect on serum 25(OH)D levels in children with ASD (p=0.041). Additionally, we found the haplotype GTTT (BsmI/TaqI/FokI/ApaI) conferred an increased risk for developing ASD (p=0.022; odds ratio [95% confidence interval]=2.322 [1.105-4.879]). This is the first clinical study evaluating the association between serum 25(OH)D levels and VDR polymorphisms in children with ASD. Our results demonstrated a significant association between TaqI, BsmI, and FokI polymorphisms and ASD and showed for the first time that FokI polymorphisms and haplotype GTTT (BsmI/TaqI/FokI/ApaI) are associated with an increased risk of ASD. Our findings support the hypothesis that 25(OH)D is involved in the pathophysiology of autism and that serum 25(OH)D levels may be affected by FokI polymorphisms in children with ASD. Our results should be considered as preliminary and needs confirmation by future studies. Lien vers le texte intégral (Open Access ou abonnement)
5. Green JL, Rinehart N, Anderson V, Efron D, Nicholson JM, Jongeling B, Hazell P, Sciberras E. {{Association between autism symptoms and family functioning in children with attention-deficit/hyperactivity disorder: a community-based study}}. {Eur Child Adolesc Psychiatry};2016 (May 6)
Autism spectrum disorder (ASD) symptoms are elevated in populations of children with attention-deficit/hyperactivity disorder (ADHD). This study examined cross-sectional associations between ASD symptoms and family functioning in children with and without ADHD. Participants were recruited to a longitudinal cohort study, aged 6-10 years (164 ADHD; 198 controls). ADHD cases were ascertained using community-based screening and diagnostic confirmation from a diagnostic interview. ASD symptoms were measured using the Social Communication Questionnaire. Outcome variables were parent mental health, family quality of life (FQoL), couple conflict and support, and parenting behaviours. After adjustment for a range of child and family factors (including other mental health comorbidities), higher ASD symptoms were associated with poorer FQoL across all three domains; emotional impact (p = 0.008), family impact (p = 0.001) and time impact (p = 0.003). In adjusted analyses by subgroup, parents of children with ADHD+ASD had poorer parent self-efficacy (p = 0.01), poorer FQoL (p Lien vers le texte intégral (Open Access ou abonnement)
6. Harrison AJ, Slane MM, Hoang L, Campbell JM. {{An international review of autism knowledge assessment measures}}. {Autism};2016 (May 5)
Autism spectrum disorder-specific knowledge deficits contribute to current disparities in the timing and quality of autism spectrum disorder services throughout the United States and globally. This study conducted a systematic review of Western and International literature to examine measures used to assess autism spectrum disorder knowledge. This review identified 44 unique autism spectrum disorder knowledge measures across 67 studies conducted in 21 countries. Measures used in each study were evaluated in terms of psychometric strength. Of the 67 studies reviewed, only 7% were rated as using a measure with strong psychometric support compared to 45% that were rated as using a measure with no reported psychometric support. Additionally, we examined content overlap and subdomains of autism spectrum disorder knowledge assessed (e.g. etiology, symptoms) and cross-cultural adaptation procedures utilized in the field. Based on these findings, the need for a cross-culturally valid and psychometrically sound measure of autism spectrum disorder knowledge is discussed and recommendations for improving current assessment methods are presented, including suggestions for measure subdomains.
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7. McGuire AB, Rafi SK, Manzardo AM, Butler MG. {{Morphometric Analysis of Recognized Genes for Autism Spectrum Disorders and Obesity in Relationship to the Distribution of Protein-Coding Genes on Human Chromosomes}}. {Int J Mol Sci};2016;17(5)
Mammalian chromosomes are comprised of complex chromatin architecture with the specific assembly and configuration of each chromosome influencing gene expression and function in yet undefined ways by varying degrees of heterochromatinization that result in Giemsa (G) negative euchromatic (light) bands and G-positive heterochromatic (dark) bands. We carried out morphometric measurements of high-resolution chromosome ideograms for the first time to characterize the total euchromatic and heterochromatic chromosome band length, distribution and localization of 20,145 known protein-coding genes, 790 recognized autism spectrum disorder (ASD) genes and 365 obesity genes. The individual lengths of G-negative euchromatin and G-positive heterochromatin chromosome bands were measured in millimeters and recorded from scaled and stacked digital images of 850-band high-resolution ideograms supplied by the International Society of Chromosome Nomenclature (ISCN) 2013. Our overall measurements followed established banding patterns based on chromosome size. G-negative euchromatic band regions contained 60% of protein-coding genes while the remaining 40% were distributed across the four heterochromatic dark band sub-types. ASD genes were disproportionately overrepresented in the darker heterochromatic sub-bands, while the obesity gene distribution pattern did not significantly differ from protein-coding genes. Our study supports recent trends implicating genes located in heterochromatin regions playing a role in biological processes including neurodevelopment and function, specifically genes associated with ASD.
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8. Pan PY, Yeh CB. {{The comorbidity of disruptive mood dysregulation disorder in autism spectrum disorder}}. {Psychiatry Res};2016 (May 2);241:108-109.
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9. Pusponegoro HD, Efar P, Soedjatmiko, Soebadi A, Firmansyah A, Chen HJ, Hung KL. {{Gross Motor Profile and Its Association with Socialization Skills in Children with Autism Spectrum Disorders}}. {Pediatr Neonatol};2016 (Apr 2)
BACKGROUND: While social impairment is considered to be the core deficit in children with autism spectrum disorder (ASD), a large proportion of these children have poor gross motor ability, and gross motor deficits may influence socialization skills in children with ASD. The objectives of this study were to compare gross motor skills in children with ASD to typically developing children, to describe gross motor problems in children with ASD, and to investigate associations between gross motor and socialization skills in children with ASD. METHODS: This was a cross-sectional study including 40 ASD children aged from 18 months to 6 years and 40 age-matched typically developing controls. Gross motor and socialization skills were scored using the Vineland Adaptive Behavior Scales, 2nd edition (Vineland-II). RESULTS: Below average gross motor function was found in eight of 40 (20%) ASD children. The mean gross motor v-scale score in the ASD group was 15.1 [standard deviation (SD) 3.12], significantly lower than in the control group [18.7, SD 2.09, p = 0.0001; 95% confidence intervals (CI) from -4.725 to -2.525]. The differences were most prominent in ball throwing and catching, using stairs, jumping, and bicycling. The ASD children with gross motor impairments had a mean socialization domain score of 66.6 (SD 6.50) compared to 85.7 (SD 10.90) in those without gross motor impairments (p = 0.0001, 95% CI from -25.327 to -12.736). CONCLUSION: Children with ASD had lower gross motor skills compared to typically developing children. Gross motor impairments were found in 20% of the ASD children, and these children also had lower socialization skills than those without gross motor impairments.
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10. Sirin N, Tekin-Iftar E. {{Opinions of Turkish Parents and Teachers About Safety Skills Instruction to Children with Autism Spectrum Disorders: A Preliminary Investigation}}. {J Autism Dev Disord};2016 (May 11)
Safety skills instruction should be regarded as one of the important teaching areas. A descriptive study was designed to reveal the opinions of Turkish parents and teachers of children with autism spectrum disorders regarding safety skills instruction. Data were collected through interview and analyzed descriptively. Findings showed that (a) both parents and teachers were able to define safety skills, (b) they found safety skills instruction important and necessary, (c) rather than providing systematic instruction they use natural occurrences as teaching opportunities and prevention behaviors, (d) parents have never had a conversation with teachers about safety skills instruction, and (e) neither parents nor teachers have enough knowledge and experience for teaching safety skills. Implications for implementing safety training are discussed.
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11. Thurman SM, van Boxtel JJ, Monti MM, Chiang JN, Lu H. {{Neural adaptation in pSTS correlates with perceptual aftereffects to biological motion and with autistic traits}}. {Neuroimage};2016 (May 6)
The adaptive nature of biological motion perception has been documented in behavioral studies, with research showing that prolonged viewing of an action can bias judgments of subsequent actions towards the opposite of its attributes. However, the neural mechanisms underlying action adaptation aftereffects remain unknown. We examined adaptation-induced changes in brain responses to an ambiguous action after adapting to walking or running actions within two bilateral regions of interest: 1) human middle temporal area (hMT+), a lower-level motion-sensitive region of cortex, and 2) posterior superior temporal sulcus (pSTS), a higher-level action-selective area. We found a significant correlation between neural adaptation strength in right pSTS and perceptual aftereffects to biological motion measured behaviorally, but not in hMT+. The magnitude of neural adaptation in right pSTS was also strongly correlated with individual differences in the degree of autistic traits. Participants with more autistic traits exhibited less adaptation-induced modulations of brain responses in right pSTS and correspondingly weaker perceptual aftereffects. These results suggest a direct link between perceptual aftereffects and adaptation of neural populations in right pSTS after prolonged viewing of a biological motion stimulus, and highlight the potential importance of this brain region for understanding differences in social-cognitive processing along the autistic spectrum.
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12. Wang X, Bey AL, Katz BM, Badea A, Kim N, David LK, Duffney LJ, Kumar S, Mague SD, Hulbert SW, Dutta N, Hayrapetyan V, Yu C, Gaidis E, Zhao S, Ding JD, Xu Q, Chung L, Rodriguiz RM, Wang F, Weinberg RJ, Wetsel WC, Dzirasa K, Yin H, Jiang YH. {{Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism}}. {Nat Commun};2016;7:11459.
Human neuroimaging studies suggest that aberrant neural connectivity underlies behavioural deficits in autism spectrum disorders (ASDs), but the molecular and neural circuit mechanisms underlying ASDs remain elusive. Here, we describe a complete knockout mouse model of the autism-associated Shank3 gene, with a deletion of exons 4-22 (Deltae4-22). Both mGluR5-Homer scaffolds and mGluR5-mediated signalling are selectively altered in striatal neurons. These changes are associated with perturbed function at striatal synapses, abnormal brain morphology, aberrant structural connectivity and ASD-like behaviour. In vivo recording reveals that the cortico-striatal-thalamic circuit is tonically hyperactive in mutants, but becomes hypoactive during social behaviour. Manipulation of mGluR5 activity attenuates excessive grooming and instrumental learning differentially, and rescues impaired striatal synaptic plasticity in Deltae4-22(-/-) mice. These findings show that deficiency of Shank3 can impair mGluR5-Homer scaffolding, resulting in cortico-striatal circuit abnormalities that underlie deficits in learning and ASD-like behaviours. These data suggest causal links between genetic, molecular, and circuit mechanisms underlying the pathophysiology of ASDs.
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13. Wehman P, Schall CM, McDonough J, Graham C, Brooke V, Riehle JE, Brooke A, Ham W, Lau S, Allen J, Avellone L. {{Effects of an employer-based intervention on employment outcomes for youth with significant support needs due to autism}}. {Autism};2016 (May 5)
The purpose of this study was to develop and investigate an employer-based 9-month intervention for high school youth with autism spectrum disorder to learn job skills and acquire employment. The intervention modified a program titled Project SEARCH and incorporated the use of applied behavior analysis to develop Project SEARCH plus Autism Spectrum Disorder Supports. A randomized clinical trial compared the implementation of Project SEARCH plus Autism Spectrum Disorder Supports with high school special education services as usual. Participants were 49 high-school-aged individuals between the ages of 18 and 21 years diagnosed with an autism spectrum disorder and eligible for supported employment. Students also had to demonstrate independent self-care. At 3 months post-graduation, 90% of the treatment group acquired competitive, part-time employment earning US$9.53-US$10.66 per hour. Furthermore, 87% of those individuals maintained employment at 12 months post-graduation. The control group’s employment outcomes were 6% acquiring employment by 3 months post-graduation and 12% acquiring employment by 12 months post-graduation. The positive employment outcomes generated by the treatment group provide evidence that youth with autism spectrum disorder can gain and maintain competitive employment. Additionally, there is evidence that they are able to advance within that time toward more weekly hours worked, while they also displayed increasing independence in the work setting.
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14. Williams MR, Fricano-Kugler CJ, Getz SA, Skelton PD, Lee J, Rizzuto CP, Geller JS, Li M, Luikart BW. {{A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated Phenotype Discovery in Developing Neurons}}. {Sci Rep};2016;6:25611.
Retroviruses expressing a fluorescent protein, Cas9, and a small guide RNA are used to mimic nonsense PTEN mutations from autism patients in developing mouse neurons. We compare the cellular phenotype elicited by CRISPR-Cas9 to those elicited using shRNA or Cre/Lox technologies and find that knockdown or knockout (KO) produced a corresponding moderate or severe neuronal hypertrophy in all cells. In contrast, the Cas9 approach produced missense and nonsense Pten mutations, resulting in a mix of KO-equivalent hypertrophic and wild type-like phenotypes. Importantly, despite this mixed phenotype, the neuronal hypertrophy resulting from Pten loss was evident on average in the population of manipulated cells. Having reproduced the known Pten KO phenotype using the CRISPR-Cas9 system we design viruses to target a gene that has recently been associated with autism, KATNAL2. Katnal2 deletion in the mouse results in decreased dendritic arborization of developing neurons. We conclude that retroviral implementation of the CRISPR-Cas9 system is an efficient system for cellular phenotype discovery in wild-type animals.
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15. Zainal H, Magiati I. {{A Comparison Between Caregiver-Reported Anxiety and Other Emotional and Behavioral Difficulties in Children and Adolescents with Autism Spectrum Disorders Attending Specialist or Mainstream Schools}}. {J Autism Dev Disord};2016 (May 10)
Increasing numbers of students with Autism Spectrum Disorder (ASD) are attending mainstream schools. Nonetheless, concerns about their emotional well-being and mental health in these settings have also been raised. This study sought to compare caregiver-reported anxiety and other emotional and behavioural problems in youth with ASD attending mainstream or specialist schools. Caregivers of 27 youth with ASD in mainstream schools (age 10.91 +/- 3.44 years) and 69 youth with ASD in special schools (age 10.93 +/- 2.81 years) matched for gender, age, adaptive functioning and autism symptom severity scores participated. Caregivers completed the Spence Children’s Anxiety Scale-Parent, a measure of adaptive functioning, and a checklist of other emotional and behavioral difficulties. Students with ASD attending mainstream schools experienced higher levels of social anxiety symptoms compared to their specialist school counterparts. No other statistically significant differences were found in other aspects of emotional and behavioural functioning examined, but some differences emerged in item-level analyses. Uncertainties in navigating more complex social environments and increased social relating difficulties in mainstream schools are discussed as probable environmental triggers for increased social phobia related symptomatology, although other explanations for this small effect size difference are also considered. Limitations of the present study and recommendations for future research focusing on exploring environmental socio-ecological factors influencing anxiety and mental health in young people with ASD are also discussed.
