Variation du nombre de copies dans 19 familles multiplexes italiennes avec trouble du spectre de l'autisme: Importance des gènes synaptiques et d'élongation des neurites

Aperçu: G.M.

Le trouble du spectre de l'autisme (TSA) est doté d'estimations d'héritabilité impressionnantes et de taux de récidive élevés. Ses fondements génétiques sont néanmoins très hétérogènes, avec des variantes communes et rares qui contribuent à des centaines de loci différents, chacun caractérisé par des niveaux variables de pénétrance. Les familles multiplex d'un seul groupe ethnique représentent un moyen utile de réduire l'hétérogénéité et d'améliorer la charge génétique.Ces résultats fournissent des preuves supplémentaires de l'hétérogénéité génétique dans les TSA, même dans les familles multiplex appartenant à un seul groupe ethnique. Les différences dans la charge de la VCN peuvent probablement contribuer à l'hétérogénéité clinique importante observée entre frères et sœurs affectés

Am J Med Genet B Neuropsychiatr Genet. 2017 Mar 17. doi: 10.1002/ajmg.b.32537.

Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes

Lintas C¹, Picinelli C², Piras IS², Sacco R¹, Brogna C¹, Persico AM^2,3.

Author information

1

Service for Neurodevelopmental Disorders and Laboratory of Molecular Psychiatry and Neurogenetics, University "Campus Bio-Medico", Rome, Italy.

2

Mafalda Luce Center for Pervasive Developmental Disorders, Milan, Italy.

3

Unit of Child and Adolescent Neuropsychiatry, "Gaetano Martino" University Hospital, University of Messina, Messina, Italy.

Abstract

Autism Spectrum Disorder (ASD) is endowed with impressive heritability estimates and high recurrence rates. Its genetic underpinnings are nonetheless very heterogeneous, with common, and rare contributing variants located in hundreds of different loci, each characterized by variable levels of penetrance. Multiplex families from single ethnic groups represent a useful means to reduce heterogeneity and enhance genetic load. We screened 19 Italian ASD multiplex families (3 triplets and 16 duplets, total N = 41 ASD subjects), using array-CGH (Agilent 180 K). Causal or ASD-relevant CNVs were detected in 36.6% (15/41) of ASD probands, corresponding to 36.8% (7/19) multiplex families with at least one affected sibling genetically positive. However, only in less than half (3/7) of positive families, affected siblings share the same causal or ASD-relevant CNV. Even in these three families, additional potentially relevant CNVs not shared by affected sib pairs were also detected. These results provide further evidence of genetic heterogeneity in ASD even within multiplex families belonging to a single ethnic group. Differences in CNV burden may likely contribute to the substantial clinical heterogeneity observed between affected siblings. In addition, Gene Ontology enrichment analysis indicates that most potentially causal or relevant ASD genes detected in our cohort belong to nervous system-specific categories, especially involved in neurite elongation and synaptic structure/function. These findings point toward the existence of genomic instability in these families, whose underlying genetic and epigenetic mechanisms deserve further scrutiny.

© 2017 Wiley Periodicals, Inc.

PMID: 28304131

DOI: 10.1002/ajmg.b.32537

La charge de mémoire de travail affecte le comportement répétitif mais pas la flexibilité cognitive dans le trouble du spectre de l'autisme chez l'adolescent

Traduction partielle: G.M.

World J Biol Psychiatry. 2017 Mar 16:1-12. doi: 10.1080/15622975.2017.1296973. [Epub ahead of print]

Working memory load affects repetitive behaviour but not cognitive flexibility in adolescent autism spectrum disorder

Wolff N¹, Chmielewski WX¹, Beste C^1,2, Roessner V¹.

Author information

1

a Cognitive Neurophysiology, Department of Child and Adolescent Psychiatry , Faculty of Medicine of the TU Dresden , Dresden , Germany.

2

b Experimental Neurobiology , National Institute of Mental Health , Klecany , Czech Republic.

Abstract

OBJECTIVES:

Le trouble du spectre de l'autisme(TSA) est associé à un comportement répétitif et stéréotypé, ce qui suggère que la flexibilité cognitive peut être déficitaire dans le TSA. Un aspect central, mais non examiné, pour comprendre les déficits possibles du comportement flexible dans les TSA concerne (i) le rôle de la mémoire de travail et (ii) les mécanismes neurophysiologiques sous-jacents aux modulations comportementales.
Autism spectrum disorder (ASD) is associated with repetitive and stereotyped behaviour, suggesting that cognitive flexibility may be deficient in ASD. A central, yet not examined aspect to understand possible deficits in flexible behaviour in ASD relates (i) to the role of working memory and (ii) to neurophysiological mechanisms underlying behavioural modulations.

METHODS:

We analysed behavioural and neurophysiological (EEG) correlates of cognitive flexibility using a task-switching paradigm with and without working memory load in adolescents with ASD and typically developing controls (TD).

RESULTS:

Adolescents with ASD versus TD show similar performance in task switching with no memory load, indicating that 'pure' cognitive flexibility is not in deficit in adolescent ASD. However performance during task repetition decreases with increasing memory load. Neurophysiological data reflect the pattern of behavioural effects, showing modulations in P2 and P3 event-related potentials.

CONCLUSIONS:

Les exigences de mémoire de travail affectent le comportement répétitif alors que les processus de flexibilité cognitive ne sont pas affectés. Les effets émergent en raison des déficits dans les processus attentionnels préparatoires et des déficits dans l'activation des règles de tâche, l'organisation et la mise en œuvre des ensembles de tâches lorsque le comportement répétitif est concerné. On peut spéculer que le mode de réponse habituel dans le TSA (c'est-à-dire le comportement répétitif) est particulièrement vulnérable aux exigences supplémentaires sur les processus de contrôle exécutif.
Working memory demands affect repetitive behaviour while processes of cognitive flexibility are unaffected. Effects emerge due to deficits in preparatory attentional processes and deficits in task rule activation, organisation and implementation of task sets when repetitive behaviour is concerned. It may be speculated that the habitual response mode in ASD (i.e. repetitive behaviour) is particularly vulnerable to additional demands on executive control processes.

PMID: 28299954

DOI: 10.1080/15622975.2017.1296973

Analyse quantitative de la disfluence chez les enfants avec trouble du spectre de l'autisme ou trouble du langage

Aperçu: G.M.

Les déficits en communication sociale, en particulier le langage pragmatique, sont caractéristiques des personnes atteintes de troubles du spectre autistique (TSA).Les analyses ont montré que les enfants avec TSA produisaient un rapport plus élevé entre le contenu et les disfluences que les enfants au développement typique (TD). Les fréquences relatives des répétitions, des révisions et des faux départs ne différaient pas significativement entre les groupes.

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PLoS One. 2017 Mar 15;12(3):e0173936. doi: 10.1371/journal.pone.0173936. eCollection 2017.

Quantitative analysis of disfluency in children with autism spectrum disorder or language impairment

MacFarlane H¹, Gorman K^1,2, Ingham R¹, Presmanes Hill A^1,2, Papadakis K¹, Kiss G¹, van Santen J^1,2.

Author information

1

Center for Spoken Language Understanding, Institute on Development & Disability, Oregon Health & Science University, Portland, Oregon, United States of America.

2

Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, United States of America.

Abstract

Deficits in social communication, particularly pragmatic language, are characteristic of individuals with autism spectrum disorder (ASD). Speech disfluencies may serve pragmatic functions such as cueing speaking problems. Previous studies have found that speakers with ASD differ from typically developing (TD) speakers in the types and patterns of disfluencies they produce, but fail to provide sufficiently detailed characterizations of the methods used to categorize and quantify disfluency, making cross-study comparison difficult. In this study we propose a simple schema for classifying major disfluency types, and use this schema in an exploratory analysis of differences in disfluency rates and patterns among children with ASD compared to TD and language impaired (SLI) groups. 115 children ages 4-8 participated in the study (ASD = 51; SLI = 20; TD = 44), completing a battery of experimental tasks and assessments. Measures of morphological and syntactic complexity, as well as word and disfluency counts, were derived from transcripts of the Autism Diagnostic Observation Schedule (ADOS). High inter-annotator agreement was obtained with the use of the proposed schema. Analyses showed ASD children produced a higher ratio of content to filler disfluencies than TD children. Relative frequencies of repetitions, revisions, and false starts did not differ significantly between groups. TD children also produced more cued disfluencies than ASD children.

PMID: 28296973

DOI: 10.1371/journal.pone.0173936

Et si le Quotient du spectre de l'autisme se composait de deux sous-groupes différents? Analyse en grappes du Quotient du spectre autistique dans la population générale.

Aperçu: G.M.

Le but de cette étude était d'étudier si les personnes dans la population générale ayant des scores élevés sur le Quotient du spectre de l'autisme constituaient un seul groupe homogène ou non. Sur la base des résultats de l'analyse, les élèves pourraient être divisés en six groupes. Les résultats de cette étude ont suggéré que les personnes dans la population générale avec des scores élevés au quotient de spectre de l'autisme peuvent se composer de deux groupes qualitativement différents.

Autism. 2017 Apr;21(3):323-332. doi: 10.1177/1362361316638787. Epub 2016 Jul 9.

Whether the Autism Spectrum Quotient consists of two different subgroups? Cluster analysis of the Autism Spectrum Quotient in general population

Kitazoe N^1,2, Fujita N^1,3, Izumoto Y^2,4, Terada SI^1,3, Hatakenaka Y^2,5.

Author information

1

1 Kochi University, Japan.

2

2 Kochi Gillberg Neuropsychiatry Centre, Japan.

3

3 Kochi Research Project for Developmental Disorders, Japan.

4

4 Kochi Health Sciences Center, Japan.

5

5 Kochi Prefectural Medical and Welfare Centre, Japan.

Abstract

The purpose of this study was to investigate whether the individuals in the general population with high scores on the Autism Spectrum Quotient constituted a single homogeneous group or not. A cohort of university students (n = 4901) was investigated by cluster analysis based on the original five subscales of the Autism Spectrum Quotient. Based on the results of the analysis, the students could be divided into six clusters: the first with low scores on all the five subscales, the second with high scores on only the 'attention to detail' subscale, the third and fourth with intermediate scores on all the subscales, the fifth with high scores on four of the five subscales but low scores on the 'attention to detail' subscale and the sixth with high scores on all the five subscales. The students with high total Autism Spectrum Quotient scores (n = 166) were divided into two groups: one with high scores on four subscales but low scores on the 'attention to detail' subscale and the other with high scores on all the five subscales. The results of this study suggested that individuals from the general population with high Autism Spectrum Quotient scores may consist of two qualitatively different groups.

PMID: 27132011

DOI: 10.1177/1362361316638787

Analyse psychométrique de l 'observation systématique des signes d'alarme pour le trouble du spectre de l'autisme chez les tout - petits

Aperçu: G.M.

L'observation systématique des signes d'alarme fournit une mesure d'observation de 16 à 24 mois avec une bonne discrimination, sensibilité et spécificité. 

Autism. 2017 Apr;21(3):301-309. doi: 10.1177/1362361316636760. Epub 2016 Jul 9.

Psychometric analysis of the Systematic Observation of Red Flags for autism spectrum disorder in toddlers

Dow D¹, Guthrie W¹, Stronach ST², Wetherby AM¹.

Author information

1

1 Florida State University, USA.

2

2 University of Minnesota-Twin Cities, USA.

Abstract

The purpose of this study was to examine the utility of the Systematic Observation of Red Flags as an observational level-two screening measure to detect risk for autism spectrum disorder in toddlers when used with a video-recorded administration of the Communication and Symbolic Behavior Scales. Psychometric properties of the Systematic Observation of Red Flags were examined in a sample of 247 toddlers of 16- to 24 months old: 130 with autism spectrum disorder, 61 with developmental delays, and 56 typically developing. Individual items were examined for performance to create an algorithm with improved sensitivity and specificity, yielding a total Composite score and Domain scores for Social Communication and Restricted Repetitive Behaviors. Codes indicating clear symptom presence were collapsed to yield a count of the number of Red Flags for the overall scale and each symptom domain. Results indicated significant group differences with large effects for the Composite, both Domain scores, and Red Flags score, and good discrimination (area under the curve = 0.84-0.87) between autism spectrum disorder and nonspectrum groups for the Composite, Social Communication Domain, and Social Communication Red Flags score. The Systematic Observation of Red Flags provides an observational screening measure for 16- to 24-month-olds with good discrimination, sensitivity, and specificity. A cutoff of 20 on the Composite is recommended to optimally detect autism spectrum disorder risk.

PMID: 27132013

DOI: 10.1177/1362361316636760

Métabolisme phosphoinositide défectueux dans l'autisme

Aperçu : G.M.

Les phosphoinositides sont des composants essentiels des membranes lipidiques et des régulateurs cruciaux de nombreuses fonctions cellulaires, notamment la transduction du signal, le trafic des vésicules, la localisation et l'activité des récepteurs membranaires et la détermination de l'identité de la membrane. Les études génétiques et fonctionnelles montrent de plus en plus que ces enzymes sont souvent dysrégulées ou mutées dans les troubles du spectre de l'autisme. [...] cela offre des possibilités intéressantes d'explorer le métabolisme phosphoinositide altéré comme une cible thérapeutique chez les personnes avec certaines formes d'autisme. Cette revue résume les études génétiques et fonctionnelles qui identifient les défauts du métabolisme des phosphoinositides dans l'autisme et les troubles apparentés...

J Neurosci Res. 2017 May;95(5):1161-1173. doi: 10.1002/jnr.23797. Epub 2016 Jul 4.

Defective phosphoinositide metabolism in autism

Gross C^1,2.

Author information

1

Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

2

Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio.

Abstract

Phosphoinositides are essential components of lipid membranes and crucial regulators of many cellular functions, including signal transduction, vesicle trafficking, membrane receptor localization and activity, and determination of membrane identity. These functions depend on the dynamic and highly regulated metabolism of phosphoinositides and require finely balanced activity of specific phosphoinositide kinases and phosphatases. There is increasing evidence from genetic and functional studies that these enzymes are often dysregulated or mutated in autism spectrum disorders; in particular, phosphoinositide 3-kinases and their regulatory subunits appear to be affected frequently. Examples of autism spectrum disorders with defective phosphoinositide metabolism are fragile X syndrome and autism disorders associated with mutations in the phosphoinositide 3-phosphatase tensin homolog deleted on chromosome 10 (PTEN), but recent genetic analyses also suggest that select nonsyndromic, idiopathic forms of autism may have altered activity of phosphoinositide kinases and phosphatases. Isoform-specific inhibitors for some of the phosphoinositide kinases have already been developed for cancer research and treatment, and a few are being evaluated for use in humans. Altogether, this offers exciting opportunities to explore altered phosphoinositide metabolism as a therapeutic target in individuals with certain forms of autism. This review summarizes genetic and functional studies identifying defects in phosphoinositide metabolism in autism and related disorders, describes published preclinical work targeting phosphoinositide 3-kinases in neurological diseases, and discusses the opportunities and challenges ahead to translate these findings from animal models and human cells into clinical application in humans. © 2016 Wiley Periodicals, Inc.

© 2016 Wiley Periodicals, Inc.

PMID: 27376697

PMCID: PMC5214992  [Available on 2017-11-01]

DOI: 10.1002/jnr.23797

Examen systématique des facteurs affectant la conduite automobile et le transport de véhicules automobiles chez les personnes avec trouble du spectre de l'autisme

Traduction partielle: G.M. 

Disabil Rehabil. 2017 May;39(9):837-846. doi: 10.3109/09638288.2016.1161849. Epub 2016 Apr 4.

Systematic review of factors affecting driving and motor vehicle transportation among people with autism spectrum disorder

Lindsay S¹.

Author information

1

a Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital and Department of Occupational Science & Occupational Therapy , University of Toronto , Toronto , Ontario , Canada.

Abstract

PURPOSE:

Cette revue systématique vise à évaluer de façon critique la littérature sur les facteurs qui influent sur la conduite automobile et le transport automobile des personnes avec trouble du spectre de l'autisme et à donner un aperçu des orientations futures pour la recherche.This systematic review is to critically appraise the literature on factors affecting driving and motor vehicle transportation experiences of people with autism spectrum disorders (ASD) and to provide insight into future directions for research.

METHODS:

Systematic searches of eight databases identified 22 studies meeting our inclusion criteria. These studies were analysed in terms of the characteristics of the participants, methodology, results of the study and quality of the evidence.

RESULTS:

Among the 22 studies, 2919 participants (364 individuals with ASD; 2555 parents of youth with ASD; mean age of person with ASD = 17.3) were represented, across six countries. Studies (n = 13) focused on factors affecting driving, including challenges in obtaining a licence, driving confidence, driving behaviours and strategies to improve driving skills. In regards to factors related to public and/or school transportation, nine studies explored rates of transportation use, access, cost and safety.

CONCLUSION:

Nos résultats mettent en évidence plusieurs lacunes dans la recherche et un besoin urgent de nouvelles formations et de soutiens liés au transport pour les personnes avec TSA. Les implications en matière de réadaptation : de nombreuses personnes avec TSA rencontrent des difficultés pour obtenir un permis de conduire, conduire efficacement et avec assurance comparativement à celles qui n'ont pas de TSA. Plusieurs stratégies peuvent être utiles pour enseigner aux personnes avec TSA à conduire, y compris la communication directe, en encourageant les mécanismes d'adaptation, en décomposant les tâches et en fournissant des leçons de conduite régulières et cohérentes. Les cliniciens et les éducateurs devraient préconiser une formation et des soutiens supplémentaires pour les personnes avec  TSA. Davantage de recherches sont nécessaires dans la perspective de comprendre les expériences des personnes avec TSA et les défis particuliers qu'elles rencontrent en obtenant un permis et en voyageant dans les transports publics .
Our findings highlight several gaps in the research and an urgent need for further transportation-related training and supports for people with ASD. Implications for rehabilitation Many people with ASD encounter challenges in obtaining a driver's licence, driving confidence and driving performance compared to those without ASD. Several strategies can be useful when teaching people with ASD to drive including direct communication, encouraging coping mechanisms, breaking down tasks and providing regular and consistent driving lessons. Clinicians and educators should advocate for further transportation-related training and supports for people with ASD. More research is needed from the perspective of people with ASD to understand their experiences and the particular challenges that they encounter in obtaining a licence and navigating public transportation.

PMID: 27045872

DOI: 10.3109/09638288.2016.1161849

* Modélisation des troubles neurodéveloppementaux et psychiatriques avec les iPSC humaines

Aperçu: G.M.

Les troubles neurodéveloppementaux et psychiatriques, dont les troubles du spectre de l'autisme et la schizophrénie, sont des troubles complexes et hétérogènes affectant une grande partie de la population mondiale. Les causes en sont mal comprises et les traitements actuellement disponibles sont limités d'où la nécessité de développer une thérapeutique rationnelle fondée sur une compréhension de l'étiologie et de la pathogenèse du trouble.
La technologie de dérivation des cellules souches pluripotentes (IPSC), reprogrammées à partir de cellules somatiques de sujets sains ou de patients, offre l'occasion de récapituler le développement normal et pathologique des tissus humains, ouvrant ainsi une nouvelle voie à la modélisation des troubles et au développement de médicaments

J Neurosci Res. 2017 May;95(5):1097-1109. doi: 10.1002/jnr.24031. Epub 2017 Feb 10.

Modeling neurodevelopmental and psychiatric diseases with human iPSCs

Wen Z¹.

Author information

1

Departments of Psychiatry and Behavioral Sciences, Cell Biology, and Neurology, Emory University School of Medicine, Atlanta, Georgia.

Abstract

Neurodevelopmental and psychiatric disorders, including autism spectrum disorder and schizophrenia, are complex and heterogeneous disorders that affect a large portion of the world's population. While the causes are still poorly understood, currently available treatments are limited; the development of rational therapeutics based on an understanding of the etiology and pathogenesis of the disease is imperative. The breakthrough technology of deriving induced pluripotent stem cells (iPSCs), reprogrammed from somatic cells of healthy subjects or patients, offers an unprecedented opportunity to recapitulate both normal and pathological development of human tissue, thereby opening up a new avenue for disease modeling and drug development in a more genetically tractable and disease-relevant system. Here, I review the recent progress in the use of human iPSCs for modeling neurodevelopmental and psychiatric disorders and developing novel therapeutic strategies, and discuss challenges in this rapidly moving field. © 2017 Wiley Periodicals, Inc.

© 2017 Wiley Periodicals, Inc.

KEYWORDS:

disease modeling; drug discovery; human-induced pluripotent stem cells; neurodevelopmental disorders; psychiatric disorders

PMID: 28186671

DOI: 10.1002/jnr.24031

Effets d'une intervention fondée sur l'employeur sur les résultats en matière d'emploi chez les jeunes ayant des besoins de soutien importants attribuables à l'autisme.

Traduction: G.M.

Autism. 2017 Apr;21(3):276-290. doi: 10.1177/1362361316635826. Epub 2016 Jul 9.

Effects of an employer-based intervention on employment outcomes for youth with significant support needs due to autism

Wehman P¹, Schall CM¹, McDonough J¹, Graham C¹, Brooke V¹, Riehle JE², Brooke A¹, Ham W¹, Lau S¹, Allen J¹, Avellone L¹.

Author information

1

1 Virginia Commonwealth University, USA.

2

2 Cincinnati Children's Hospital Medical Center, USA.

Resumé

Le but de cette étude était de développer et d'enquêter sur une intervention de 9 mois fondée sur l'employeur  pour les jeunes du secondaire avec un trouble du spectre de l'autisme pour apprendre des compétences professionnelles et acquérir un emploi. L'intervention a modifié un programme intitulé projet SEARCH et a incorporé l'utilisation de l'analyse appliquée de comportement pour développer le projet SEARCH en plus des supports du trouble du spectre de l'autisme. Un essai clinique randomisé a comparé la mise en œuvre du projet SEARCH plus les services de soutien aux troubles du spectre de l'autisme avec les services d'éducation spéciale du secondaire habituels.Les participants étaient 49 personnes d'âge scolaire âgées entre 18 et 21 ans diagnostiqués avec un trouble du spectre de l'autisme et admissibles à un emploi aidé. Les élèves devaient également faire preuve d'indépendance par rapport aux soins. À 3 mois après l'obtention du diplôme, 90% du groupe de traitement a acquis un emploi à temps partiel concurrentiel gagnant entre 9.53 et 10.66 -US $ par heure. De plus, 87% de ces personnes ont maintenu un emploi à 12 mois après l'obtention du diplôme. Les résultats d'emploi du groupe témoin ont été de 6% pour l'acquisition d'un emploi, 3 mois après l'obtention du diplôme et de 12% pour l'acquisition d'un emploi 12 mois après l'obtention du diplôme. Les résultats positifs sur l'emploi générés par le groupe de traitement prouvent que les jeunes avec trouble du spectre de l'autisme peuvent décrocher et maintenir un emploi compétitif. En outre, il est prouvé qu'ils sont en mesure d'avancer dans ce délai avec un nombre d'heures hebdomadaires travaillées plus importantes, alors qu'ils ont également montré une indépendance croissante dans le cadre de travail.
 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.

KEYWORDS:

Project SEARCH; applied behavior analysis; autism; autism spectrum disorder; employment; positive behavior support; transition to adulthood

PMID: 27154907

DOI: 10.1177/1362361316635826

Une revue internationale des mesures d'évaluation des connaissances sur l'autisme

Aperçu: G.M.

Cette étude a mené une revue systématique de la littérature occidentale et internationale pour examiner les mesures utilisées pour évaluer les connaissances sur le trouble du spectre de l'autisme et a identifié 44 mesures uniques de connaissances dans 67 études menées dans 21 pays. Les mesures utilisées dans chaque étude ont été évaluées en termes de force psychométrique. Sur les 67 études examinées, seulement 7% ont été évaluées comme utilisant une mesure avec un soutien psychométrique fort par rapport à 45% qui ont été évalués comme utilisant une mesure sans soutien psychométrique rapporté. .

Autism. 2017 Apr;21(3):262-275. doi: 10.1177/1362361316638786. Epub 2016 Jul 8.

An international review of autism knowledge assessment measures

Harrison AJ¹, Slane MM¹, Hoang L², Campbell JM³.

Author information

1

1 University of Georgia, USA.

2

2 Skidmore College, USA.

3

3 University of Kentucky, USA.

Abstract

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.

KEYWORDS:

autism spectrum disorder; cross-cultural assessment; knowledge; mental health literacy; psychometrics

PMID: 27154908

DOI: 10.1177/1362361316638786

Changements de l'anxiété à la suite d'un essai contrôlé randomisé d'une intervention thérapeutique fondée sur le théâtre pour les jeunes avec trouble du spectre de l'autisme

Aperçu: G.M.

L'anxiété et le stress accrus sont fréquents chez les enfants avec trouble du spectre de l'autisme et sont associés à des défis sociaux. L'intervention basée sur le théâtre (30 jeunes de 8 à 14 ans), médiée par les pairs, contribue non seulement à l'amélioration de la compétence sociale chez les jeunes avec trouble du spectre de l'autisme, mais contribue également à réduire l'anxiété associée à une plus grande interaction sociale avec les pairs. Les résultats suggèrent qu'un certain degré d'excitation physiologique est essentiel à l'interaction sociale.

Autism. 2017 Apr;21(3):333-343. doi: 10.1177/1362361316643623. Epub 2016 Jul 8.

Changes in anxiety following a randomized control trial of a theatre-based intervention for youth with autism spectrum disorder

Corbett BA¹, Blain SD¹, Ioannou S², Balser M¹.

Author information

1

1 Vanderbilt University, USA.

2

2 Lipscomb University, USA.

Abstract

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.

PMID: 27154909

DOI: 10.1177/1362361316643623

Résultats cliniques des traitements comportementaux pour la fugue chez les personnes avec trouble du spectre de l'autisme et d'autres troubles du développement.

Aperçu: G.M.

Les réductions de la fugue de la ligne de base au traitement final pour chaque participant démontrent que l'intervention comportementale est un traitement très efficace pour la fugue.

Autism. 2017 Apr;21(3):375-379. doi: 10.1177/1362361316644732. Epub 2016 Jul 9.

Clinical outcomes of behavioral treatments for elopement in individuals with autism spectrum disorder and other developmental disabilities

Call NA^1,2, Alvarez JP^1,2, Simmons CA³, Lomas Mevers JE^1,2, Scheithauer MC^1,2.

Author information

1

1 Emory University, USA.

2

2 Marcus Autism Center, USA.

3

3 University of Georgia, USA.

Abstract

The external validity of behavioral treatments for elopement (i.e. leaving supervision without permission) remains unclear because studies to date include only small samples ( n = 1-3). This study quantified the overall effectiveness of behavioral treatments for elopement by retrospectively examining treatment data from all patients seen for the treatment of elopement at an intensive day treatment clinic ( n = 11), irrespective of treatment success. Reductions in elopement from baseline to the final treatment for each participant demonstrate that behavioral intervention is a highly effective treatment for elopement, as determined by the large effect size (Cohen's d = 1.18).

PMID: 27178995

DOI: 10.1177/1362361316644732

Les modèles de perte et de gain de communication signalés par les parents chez les enfants de 1 à 2 ans ne sont pas propres au trouble du spectre de l'autisme

Aperçu: G.M. 

Un plus grand nombre d'enfants , âgés de 1 à 2 ans, diagnostiqués ultérieurement avec autisme comparés aux enfants avec difficultés de langage et enfants sans autisme ni troubles du langage perdent des compétences dans plus d'un domaine : Trouble du spectre autistique (47%), troubles du langage (15%, p = 0,0003), développement typique (16%, p <0,001) . La perte était la plus fréquente chez tous les groupes dans le domaine de «l'émotion et du regard», mais avec une proportion plus élevée chez les enfants autistes (27%, troubles du langage (12%, p = 0,03), développement typique = 0,03)). Une proportion plus élevée d'enfants avec trouble du spectre de l'autisme a également perdu des compétences gestuelles  (p = 0,01), en sons (p = 0,009) et en compréhension (p = 0,004) par rapport aux enfants ayant un développement typique mais pas avec ceux ayant une altération du langage.

Autism. 2017 Apr;21(3):344-356. doi: 10.1177/1362361316644729. Epub 2016 Jul 8.

Parent-reported patterns of loss and gain in communication in 1- to 2-year-old children are not unique to autism spectrum disorder

Brignell A^1,2, Williams K^1,2,3, Prior M¹, Donath S^1,2, Reilly S^2,4, Bavin EL⁵, Eadie P¹, Morgan AT^1,2.

Author information

1

1 The University of Melbourne, Australia.

2

2 Murdoch Childrens Research Institute, Australia.

3

3 The Royal Children's Hospital, Australia.

4

4 Menzies Health Institute Queensland, Australia.

5

5 La Trobe University, Australia.

Abstract

We compared loss and gain in communication from 1 to 2 years in children later diagnosed with autism spectrum disorder (n = 41), language impairment (n = 110) and in children with typical language development at 7 years (n = 831). Participants were selected from a prospective population cohort study of child language (the Early Language in Victoria Study). Parent-completed communication tools were used. As a group, children with autism spectrum disorder demonstrated slower median skill gain, with an increasing gap between trajectories compared to children with typical development and language impairment. A proportion from all groups lost skills in at least one domain (autism spectrum disorder (41%), language impairment (30%), typical development (26%)), with more children with autism spectrum disorder losing skills in more than one domain (autism spectrum disorder (47%), language impairment (15%, p = 0.0003), typical development (16%, p < 0.001)). Loss was most common for all groups in the domain of 'emotion and eye gaze' but with a higher proportion for children with autism spectrum disorder (27%; language impairment (12%, p = 0.03), typical development (14%, p = 0.03)). A higher proportion of children with autism spectrum disorder also lost skills in gesture (p = 0.01), sounds (p = 0.009) and understanding (p = 0.004) compared to children with typical development but not with language impairment. These findings add to our understanding of early communication development and highlight that loss is not unique to autism spectrum disorder.

KEYWORDS:

autism spectrum disorder; communication; language; regression; skill loss; trajectory

PMID: 27178996

DOI: 10.1177/1362361316644729