Pubmed du 14/05/19

mardi 14 mai 2019

1. Caplan B, Blacher J, Eisenhower A. Responsive Parenting and Prospective Social Skills Development in Early School-Aged Children with Autism Spectrum Disorder. J Autism Dev Disord. 2019.

Children with autism spectrum disorder (ASD) vary greatly in social functioning, and in turn, long-term relational and academic outcomes. Responsive parenting which follows a child’s lead and focus of attention is predictive of language and social gains for children with or without developmental risk. The present study prospectively assessed 176 families of children with ASD (ages 4 to 7 years) to examine predictors of observed responsive parenting and associations of responsive parenting with concurrent and prospective growth in social functioning by multi-method assessment. Responsive parenting concurrently associated with child characteristics (IQ, language, sex) and child social engagement within the interaction. Structural equation models revealed that responsive parenting positively predicted prospective growth in social skills by teacher but not parent report.

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2. Hand BN, Boan AD, Bradley CC, Charles JM, Carpenter LA. Emergency department utilization and monetary charges in adolescents with autism spectrum disorder, intellectual disability, and a population comparison group. Autism Res. 2019.

Adolescents with autism spectrum disorder (ASD) and/or intellectual disability (ID) may utilize the emergency department (ED) more frequently than individuals in the general population. This study compared ED utilization and charges during adolescence among four groups of individuals : ASD-only, ASD + ID, ID-only, and a population comparison (PC) group. ED visits occurring during age 12-17 years were examined to identify non, low, and high utilizers. Logistic regression was used to compare groups on the odds of having at least one ED visit during adolescence. Generalized linear models were used to compare groups on number of ED visits and total charges, stratified by low and high ED utilization. Descriptive examination of presenting diagnoses was performed. Individuals with ID, with or without co-occurring ASD, were significantly more likely to have at least one ED visit during adolescence. Among high ED utilizers, the ID-only group had the most frequent ED visits but had significantly lower charges than the ASD-only group. Individuals with ASD-only and ASD + ID differed from the ID-only and PC groups in presenting diagnoses. No differences between groups in number of ED visits or charges were observed among low utilizers. ID, with or without ASD, increased the odds of visiting the ED during adolescence. Adolescents with ID-only had the most frequent ED visits, but individuals with ASD-only had the highest ED charges and tended to be seen for psychiatric concerns. Further research is warranted to better characterize and meet the healthcare needs of individuals with ASD and/or ID during adolescence. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Frequent emergency department (ED) visits strain medical resources and are costlier than primary and urgent care. Our findings show that adolescents with intellectual disability (ID) may use the ED frequently for nonurgent conditions. Adolescents with autism spectrum disorder, without ID, use the ED less frequently but incur higher charges. Further research is needed to understand how to meet the unique needs of these populations in primary care to prevent overuse of the ED.

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3. Hollins S, Lodge KM, Lomax P. The case for removing intellectual disability and autism from the Mental Health Act - ERRATUM. The British journal of psychiatry : the journal of mental science. 2019 : 1.

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4. Loussouarn A, Dozieres-Puyravel B, Auvin S. Autistic spectrum disorder and epilepsy : diagnostic challenges. Expert review of neurotherapeutics. 2019 : 1-7.

INTRODUCTION : Epilepsy is more frequent in individuals with Autism Spectrum Disorder (ASD) than in the general population ; however, its diagnosis is frequently challenging. Areas Covered : We report the current diagnostic criteria for both ASD and epilepsy. We describe the incidence, prevalence, and risk factors for epilepsy in patients with ASD. We then focus on the electro-clinical approach, including the clinical evaluation of cognitive regression. Expert Opinion : A diagnosis of epilepsy should be made based on the International League Against Epilepsy (ILAE) definition. A diagnosis of epilepsy should be established based on a single seizure with electroencephalography (EEG) abnormalities. Considering the high prevalence of EEG abnormalities in children with ASD without epilepsy, EEG should only be performed at epilepsy onset, and more precisely when a clinical interview has confirmed that repetitive paroxysmal events could be seizures. There are still many gaps in our understanding of epilepsy in patients with ASD. It would be of interest to further understand the links, if any, between EEG abnormalities and ASD phenotype. The identification of epilepsy syndromes in ASD would help analyze the possible underlying etiologies, for the administration of more appropriate antiepileptic drugs (AED), and to explain the prognosis to caregivers.

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5. Robison JE. Talking about autism-thoughts for researchers. Autism Res. 2019.

At the 2019 strategic planning meeting the International Society for Autism Research (INSAR) board discussed the question of appropriate language to be used when speaking or writing about autism or affected individuals. Board members articulated a wide range of views on this subject, making clear that there is no single simple answer. This commentary was inspired by that discussion. It is by John Elder Robison who is both an INSAR board member and an individual diagnosed with autism. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : How should researchers talk about autism ? Personal reflections on writing and speaking about autism, with particular regard for affected individuals, be they autistic people, people with autism, or family members. This commentary is authored by John Elder Robison who is both an INSAR board member and an individual diagnosed with autism.

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6. Russo-Ponsaran NM, Lerner MD, McKown C, Weber RJ, Karls A, Kang E, Sommer SL. Web-based Assessment of Social-Emotional Skills in School-Aged Youth with Autism Spectrum Disorder. Autism Res. 2019.

Few tools are available to comprehensively describe the unique social-emotional skill profiles of youth with autism spectrum disorder (ASD). The present study describes the usability, reliability, and validity of SELweb, a normed, web-based assessment designed to measure four core social-emotional domains, when used to measure these skills in a sample of 57 well-characterized youth with ASD (ages 6-10 years with IQ >/= 80). SELweb measures facial emotion recognition, theory of mind, social problem solving, and self-control. SELweb was well tolerated and yielded scores with reliabilities comparable to those found in normative samples. SELweb scores showed good evidence of convergent and discriminant validity for three of the four skills it was designed to assess. Mean deficits were found for theory of mind, social problem solving, and self-control, whereas no mean deficits were found for emotion recognition. Individual profiles varied considerably, suggesting the sensitivity of SELweb to the within- and between-person individual differences among youth with ASD. Findings support the usefulness and accessibility of SELweb as a tool for measuring complex social-emotional skill profiles in youth with ASD. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : No single, simple, high-quality test exists that measures multiple social thinking skills directly in children with autism spectrum disorder (ASD). The present study suggests that SELweb, a web-based assessment system, is an effective and valid way to measure how children with ASD think about and understand social and emotional information, and is able to capture strengths and weaknesses experienced by children with ASD.

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7. Talebizadeh Z, Shah A, DiTacchio L. The potential role of a retrotransposed gene and a long noncoding rna in regulating an x-linked chromatin gene (KDM5C) : Novel epigenetic mechanism in autism. Autism Res. 2019.

A growing body of evidence supports the potential role of the circadian system and chromatin remodeling genes in autism. Considering the heterogeneity and gender discrepancy in autism, and the complex nature of the epigenetic landscape, identification of biologically relevant epigenetic factors requires reducing heterogeneity using proper subtyping. For this study, we used X chromosome inactivation (XCI) status in females with autism as an epigenetic marker for subtyping and examined the expression level of members of KDM5, a chromatin remodeling gene family. KDM5 are histone demethylases involved in the circadian molecular machinery. We used human blood samples to characterize alternatively spliced KDM5 isoforms and noticed that KDM5C undergoes a complex splicing process. We also identified a KDM5C isoform (KDM5C-3’UTR-lncRNA) containing a novel 3’UTR originated from a retrotransposed gene (retro-SUV39H2) of an autosomal methyltransferase (SUV39H2). This 3’UTR shows 84% sequence homology with long ncRNAs (lncRNAs) and is located 32 kb downstream of KDM5C. The KDM5C-3’UTR-lncRNA isoform was differentially expressed in autistic females with XCI skewness compared with controls. KDM5C plays a crucial role in balancing histone H3K4 methylation states. The identified retro-SUV39H2 originated lncRNA also shows H3K4 marks. By assessing the expression level of alternatively spliced Kdm5 isoforms at different circadian time-points, we showed that some isoforms follow a circadian oscillation pattern in wild type mouse brain.This study provides the first evidence and a suggestive model for the potential role of retrotransposed elements in autism through linking methylases and demethylases, two functionally complementary components of chromatin remodeling, which may collectively contribute to disease etiology through lncRNAs. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Genes do not function in isolated conditions and their proper expression level also depends on a mechanism called gene regulation. An example of gene regulation is when changes outside DNA sequences influence the function of autism susceptibility genes. Alternative splicing is one type of gene regulation, which produces several versions of a gene (called variants) that may slightly differ from each other and be expressed at different levels in response to environmental changes. The circadian clock is an essential timing mechanism that enables organisms to maintain internal processes in sync with the dynamic environment brought about by the day-night cycle. The goal of this study was to assess if a subset of females with autism with certain genetic marker had a unique pattern of alternative splicing of three circadian genes. We identified a novel variant that is differentially expressed in this subset. Our study provides a novel subject stratification strategy, and a suggestive model of how biologically relevant components of a gene regulatory process may be linked and, possibly, collectively contribute to the etiology of autism.

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8. Wang Q, Hoi SP, Wang Y, Song C, Li T, Lam CM, Fang F, Yi L. Out of Mind, Out of Sight ? Investigating Abnormal Face Scanning in Autism Spectrum Disorder Using Gaze-Contingent Paradigm. Dev Sci. 2019 : e12856.

Diminished social motivation is hypothesized to explain abnormal face scanning pattern in individuals with Autism Spectrum Disorder (ASD), especially reduced eye-looking time in ASDs than typically developing (TD) people. Here, we tested an alternative explanation that children with ASD may use a compensatory strategy to avoid direct eye contact by processing the eyes through peripheral vision. We compared the face scanning patterns of children with and without ASD in two conditions : in the clear condition, the face was completely visible ; in the blur condition, by using the gaze-contingent paradigm, the whole face was blurred except for a small region being fixated at, thus children could not rely on the peripheral information to process the eyes. We found that children with ASD fixated less on the eyes than TD children in both conditions. Temporal-course analyses further revealed the possible motivation-based guidance of attention to process the eyes in the TD group but not in the ASD group. Additionally, we found that children with ASD scanned faces more randomly and less strategically than TD children. These results have ruled out the alternative hypothesis that the abnormal face scanning pattern in ASDs was due to their compensatory strategy to process eyes through peripheral vision, furthering our understanding of the mechanisms underlying their abnormal face scanning. This article is protected by copyright. All rights reserved.

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