Pubmed du 22/09/16

Pubmed du jour

2016-09-22 12:03:50

1. Al Backer NB. {{Correlation between Autism Treatment Evaluation Checklist (ATEC) and Childhood Autism Rating Scale (CARS) in the evaluation of autism spectrum disorder}}. {Sudan J Paediatr};2016;16(1):17-22.

Identification of health issues in children with autism spectrum disorder (ASD) is paramount to provide appropriate care and interventions. The Autism Treatment Evaluation Checklist (ATEC) is the one of the few current measures that assesses ASD-associated health problems thus informing intervention decisions. However, little research has been conducted to compare ATEC with other more recognized measures such as the Childhood Autism Rating Scale (CARS). It is unclear whether these two scales can be used interchangeably or whether high scores on one scale are comparable to the other. The aim of the current study was to compare the correlation between ATEC and CARS in the evaluation of children with ASD. This prospective cross-sectional study was conducted at the Developmental and Behavioural Paediatrics Outpatient Clinic at King Saud University, King Khalid University hospital (KKUH) in Riyadh, Saudi Arabia. Forty children with a prior diagnosis of ASD seen during the period from October 2014 to August 2015 were included. Each child was assessed using ATEC and CARS independently during the same visit. The Spearman’s rank correlation coefficient test was used. The overall mean CARS score was 34.125 +/- 5.535 (range from 22 to 42) and the mean ATEC score was 40.95+/- 9.1934.1 (range from 24 to 72). The Spearman’s rank correlation coefficient (rs) was 0.015, and p-value was 0.926 (> 0.05) meaning that there was no correlation between CARS and ATEC scales. No correlation between CARS and ATEC scale was found. ATEC should not be used instead of CARS to delineate co-morbid health issues. Future studies are needed to assess the validity of ATEC and its correlation with other well established scales.

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2. Alvares GA, Quintana DS, Whitehouse AJ. {{Beyond the hype and hope: Critical considerations for intranasal oxytocin research in autism spectrum disorder}}. {Autism Res};2016 (Sep 21)

Extensive research efforts in the last decade have been expended into understanding whether intranasal oxytocin may be an effective therapeutic in treating social communication impairments in individuals with autism spectrum disorder (ASD). After much hyped early findings, subsequent clinical trials of longer-term administration have yielded more conservative and mixed evidence. However, it is still unclear at this stage whether these more disappointing findings reflect a true null effect or are mitigated by methodological differences masking true effects. In this review, we comprehensively evaluate the rationale for oxytocin as a therapeutic, evaluating evidence from randomized controlled trials, case reports, and open-label studies of oxytocin administration in individuals with ASD. The evidence to date, including reviews of preregistered trials, suggests a number of critical considerations for the design and interpretation of research in this area. These include considering the choice of ASD outcome measures, dosing and nasal spray device issues, and participant selection. Despite these limitations in the field to date, there remains significant potential for oxytocin to ameliorate aspects of the persistent and debilitating social impairments in individuals with ASD. Given the considerable media hype around new treatments for ASD, as well as the needs of eager families, there is an urgent need for researchers to prioritise considering such factors when conducting well-designed and controlled studies to further advance this field. Autism Res 2016,. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.

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3. Bock I, Nemeth K, Pentelenyi K, Balicza P, Balazs A, Molnar MJ, Roman V, Nagy J, Levay G, Kobolak J, Dinnyes A. {{Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance}}. {Gene};2016 (Sep 17)

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with unknown genetic and environmental causation in most of the affected individuals. On the other hand, there are a growing number of ASD-associated syndromes, where the exact genetic origin can be revealed. Here we report a method, which included the targeted next generation sequencing (NGS) and filtering of 101 ASD associated genes, followed by database search. Next, RNA sequencing was used to study the region of interest at the transcriptional level. Using this workflow, we identified a de novo mutation in the euchromatic histone-lysine N-methyltransferase 1 gene (EHMT1) of an autistic patient with dysmorphisms. Sequencing of EHMT1 transcripts showed that the premature termination codon (Trp1138Ter) created by a single nucleotide change elicited nonsense-mediated mRNA decay, which led to haploinsufficiency already at the transcriptional level. Database and literature search provided evidence that this mutation caused Kleefstra syndrome (KS), which was confirmed by the presence of the disorder-specific phenotype in the patient. We provide a proof of principle that the implemented method is capable to elucidate the genetic etiology of individuals with syndromic autism. The novel mutation detected in the EHMT1 gene is responsible for KS’s symptoms. In addition, further genetic factors might be involved in the ASD pathogenesis of the patient including a missense DPP6 mutation (Arg322Cys), which segregated with the autistic phenotype within the family.

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4. Kirk HE, Gray K, Riby DM, Taffe J, Cornish KM. {{Visual attention and academic performance in children with developmental disabilities and behavioural attention deficits}}. {Dev Sci};2016 (Sep 21)

Despite well-documented attention deficits in children with intellectual and developmental disabilities (IDD), distinctions across types of attention problems and their association with academic attainment has not been fully explored. This study examines visual attention capacities and inattentive/hyperactive behaviours in 77 children aged 4 to 11 years with IDD and elevated behavioural attention difficulties. Children with autism spectrum disorder (ASD; n = 23), Down syndrome (DS; n = 22), and non-specific intellectual disability (NSID; n = 32) completed computerized visual search and vigilance paradigms. In addition, parents and teachers completed rating scales of inattention and hyperactivity. Concurrent associations between attention abilities and early literacy and numeracy skills were also examined. Children completed measures of receptive vocabulary, phonological abilities and cardinality skills. As expected, the results indicated that all groups had relatively comparable levels of inattentive/hyperactive behaviours as rated by parents and teachers. However, the extent of visual attention deficits varied as a result of group; namely children with DS had poorer visual search and vigilance abilities than children with ASD and NSID. Further, significant associations between visual attention difficulties and poorer literacy and numeracy skills were observed, regardless of group. Collectively the findings demonstrate that in children with IDD who present with homogenous behavioural attention difficulties, at the cognitive level, subtle profiles of attentional problems can be delineated.

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5. Linstead E, Dixon DR, French R, Granpeesheh D, Adams H, German R, Powell A, Stevens E, Tarbox J, Kornack J. {{Intensity and Learning Outcomes in the Treatment of Children With Autism Spectrum Disorder}}. {Behav Modif};2016 (Sep 20)

Ample research has shown that intensive applied behavior analysis (ABA) treatment produces robust outcomes for individuals with autism spectrum disorder (ASD); however, little is known about the relationship between treatment intensity and treatment outcomes. The current study was designed to evaluate this relationship. Participants included 726 children, ages 1.5 to 12 years old, receiving community-based behavioral intervention services. Results indicated a strong relationship between treatment intensity and mastery of learning objectives, where higher treatment intensity predicted greater progress. Specifically, 35% of the variance in mastery of learning objectives was accounted for by treatment hours using standard linear regression, and 60% of variance was accounted for using artificial neural networks. These results add to the existing support for higher intensity treatment for children with ASD.

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6. Noel JP, Cascio CJ, Wallace MT, Park S. {{The spatial self in schizophrenia and autism spectrum disorder}}. {Schizophr Res};2016 (Sep 17)

Schizophrenia (SZ) and autism spectrum disorder (ASD) have been both described as disorders of the self. However, the manner in which the sense of self is impacted in these disorders is strikingly different. In the current review, we propose that SZ and ASD lay at opposite extremes of a particular component of the representation of self; namely, self-location and the construct of peripersonal space. We evaluate emerging literature suggesting that while SZ individuals possess an extremely weak or variable bodily boundary between self and other, ASD patients possess a sharper self-other boundary. Furthermore, based on recent behavioral and neural network modeling findings, we propose that multisensory training focused on either sharpening (for SZ) or making shallower (for ASD) the self-other boundary may hold promise as an interventional tool in the treatment of these disorders.

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7. Raymaker DM, McDonald KE, Ashkenazy E, Gerrity M, Baggs AM, Kripke C, Hourston S, Nicolaidis C. {{Barriers to healthcare: Instrument development and comparison between autistic adults and adults with and without other disabilities}}. {Autism};2016 (Sep 22)

Our objective was to use a community-based participatory research approach to identify and compare barriers to healthcare experienced by autistic adults and adults with and without other disabilities. To do so, we developed a Long- and Short-Form instrument to assess barriers in clinical and research settings. Using the Barriers to Healthcare Checklist-Long Form, we surveyed 437 participants (209 autistic, 55 non-autistic with disabilities, and 173 non-autistic without disabilities). Autistic participants selected different and greater barriers to healthcare, particularly in areas related to emotional regulation, patient-provider communication, sensory sensitivity, and healthcare navigation. Top barriers were fear or anxiety (35% (n = 74)), not being able to process information fast enough to participate in real-time discussions about healthcare (32% (n = 67)), concern about cost (30% (n = 62)), facilities causing sensory issues 30% ((n = 62)), and difficulty communicating with providers (29% (n = 61)). The Long Form instrument exhibited good content and construct validity. The items combined to create the Short Form had predominantly high levels of correlation (range 0.2-0.8, p < 0.001) and showed responsiveness to change. We recommend healthcare providers, clinics, and others working in healthcare settings to be aware of these barriers, and urge more intervention research to explore means for removing them. Lien vers le texte intégral (Open Access ou abonnement)

8. Sweileh WM, Al-Jabi SW, Sawalha AF, Zyoud SH. {{Bibliometric profile of the global scientific research on autism spectrum disorders}}. {Springerplus};2016;5(1):1480.

BACKGROUND: Autism spectrum disorders (ASD) are a group conditions classified as neuro-developmental disorders. Research activity on ASD is important for all countries since such disorders have both social and health consequences. The objective of this study was to analyze research output on ASD during the period 2005-2014. METHODS: All articles relevant to ASD plus all articles published in autism journals were retrieved using Scopus database. VOSviewer software was used to create density and network visualization maps. Bibliometric indicators were investigated by analyzing annual research output, languages, countries, institutions, journals, title terms, highly cited articles, and co-authorship relations. RESULTS: A progressive annual growth of ASD research was observed from 2005 to 2014. During this period, a total of 18,490 articles were retrieved. The majority of these articles was published in Journal of Autism and Developmental Disorders with 48,416 citations and an average citation of 23.59 citations per article. The countries that published the largest number of articles were the United States (US) (n = 8594; 46.48 %), United Kingdom (n = 2430; 13.14 %) and Canada (n = 1077; 5.8 %). International collaborations produced 30.18 % of the articles published by top 10 productive countries. King’s College London (UK) ranked first in number of publications and total citations. The top 10 list of productive institutions was dominated by US academic and research institutions. More than half of the highly cited articles were in the field of molecular genetics. Articles with more than 50 citations were published mainly by authors from USA, UK and Canada. CONCLUSIONS: There is a worldwide growth of publications on ASD led by countries in Northern America and Europe. Retrieved articles were published in a wide range of journals. Molecular genetics of ASD is the primary hot topic on ASD. For some leading countries, intra country collaboration is dominant.

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9. Van de Cruys S, Van der Hallen R, Wagemans J. {{Disentangling signal and noise in autism spectrum disorder}}. {Brain Cogn};2016 (Sep 17)

Predictive coding has recently been welcomed as a fruitful framework to understand autism spectrum disorder. Starting from an account centered on deficient differential weighting of prediction errors (based in so-called precision estimation), we illustrate that individuals with autism have particular difficulties with separating signal from noise, across different tasks. Specifically, we discuss how deficient precision-setting is detrimental for learning in unstable environments, for context-dependent assignment of salience to inputs, and for robustness in perception, as illustrated in coherent motion paradigms.

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