Pubmed du 10/06/19

lundi 10 juin 2019

1. Bartram LA, Lozano J, Coury DL. Aripiprazole for treating irritability associated with autism spectrum disorders. Expert Opin Pharmacother ;2019 (Jun 10):1-7.

Introduction : Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a reported prevalence of 1 in 59 people. Its core features are persistent deficits in social communication and restricted, repetitive patterns of behavior or interests. Individuals with ASD have a high incidence of secondary problems with mood lability, tantrums, self-injurious behavior and aggressiveness toward others. Collectively, these behaviors are often referred to as irritability. Many medications have been used to treat irritability in autism, with aripiprazole one of only two medications approved in the USA for this purpose. Areas covered : Herein, the authors review the evidence supporting the use of aripiprazole for treating irritability in autism, including the pivotal trials leading to regulatory approval and long-term studies conducted post-approval. They utilized PubMed, searching all English language publications since 2000, using the terms aripiprazole, autism, autism spectrum disorder, pervasive developmental disorder, Asperger’s disorder, and irritability, and focused on clinical trials and review articles. Expert opinion : Multiple studies have shown the clear benefit of aripiprazole in the treatment of irritability in autism disorders compared to placebo. Often underemphasized are the metabolic effects, the proper monitoring for these effects, and the need for periodic reassessment to determine if ongoing treatment is needed.

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2. Goldfarb Y, Gal E, Golan O. A Conflict of Interests : A Motivational Perspective on Special Interests and Employment Success of Adults with ASD. J Autism Dev Disord ;2019 (Jun 8)

A course of action often suggested in an attempt to improve employment outcomes of adults with autism spectrum disorder, is to match between special interests and job opportunities. In this commentary, we propose that the match may be more complicated than it seems, possibly overseeing more pressing employment needs that should be answered such as : the job’s characteristics, labor market demands, and stress resulting from job expectations. Self determination theory of motivation is suggested as a lens through which the association between special interests and a paying job can be examined, highlighting important considerations that hold the potential to increase employment success. Recommendations for new research directions and vocational rehabilitation practice are discussed.

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3. Milne E, Gomez R, Giannadou A, Jones M. Atypical EEG in autism spectrum disorder : Comparing a dimensional and a categorical approach. J Abnorm Psychol ;2019 (Jun 10)

Myriad studies have found group differences in neural dynamics between people with and without autism spectrum disorder (ASD). However, the extent to which variation in neural dynamics is related to variation in the autism phenotype across the population is not known. Here we measured behavioral characteristics of autism alongside intertrial phase coherence (ITC) and multiscale entropy (MSE) computed from EEG in order to address this question. Data were obtained from 99 adults, 38 of whom had an ASD diagnosis. Phenotypic information was obtained from the Social Responsiveness Scale (Revised), the Repetitive Behavior Questionnaire, the WHO Adult ADHD Self-Report Scale Screener, and the Beck Anxiety Inventory (Trait version). ITC and MSE were computed from EEG recorded during visual stimulation and eyes-closed rest. We found no evidence to suggest that population variance in autistic traits is underpinned by variance in neural dynamics, despite finding that ITC and MSE are more likely to be reduced in people with ASD than in those without. We conclude that there are likely to be multiple neural profiles underpinning ASD, and suggest that while individual differences in the autism phenotype exist across the population, their distribution is not underpinned by individual differences in neural dynamics. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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4. Saggers B, Tones M, Dunne J, Trembath D, Bruck S, Webster A, Klug D, Wang S. Promoting a Collective Voice from Parents, Educators and Allied Health Professionals on the Educational Needs of Students on the Autism Spectrum. J Autism Dev Disord ;2019 (Jun 8)

Providing support for the educational needs of students on the autism spectrum continues to be challenging. Findings from this survey of parents, teachers and specialist staff highlight the need for collaboration between stakeholders who support the education of these students. The main themes to emerge were for school staff to be equipped with the knowledge and expertise to support each student in their learning, and for support with social/emotional needs. Findings highlighted the need for a transparent process for building school capacity to translate research and knowledge into practice by all stakeholders. This collective voice is important to ensure the needs of these students are identified and that appropriate support is implemented to maximise the educational success of these students.

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5. Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schonewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Grijalvo Perez A, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tumer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR. Autism and developmental disability caused by KCNQ3 gain-of-function variants. Ann Neurol ;2019 (Jun 8)

OBJECTIVE : Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring heterozygous KCNQ3 de novo variants (DNVs). We sought to assess whether pathogenic variants in KCNQ3 cause NDD and to elucidate the associated phenotype and molecular mechanisms. METHODS : Patients with NDD and KCNQ3 DNVs were identified through an international collaboration. Phenotypes were characterized by clinical assessment, review of charts and EEG recordings, and parental interview. Functional consequences of variants were analyzed in vitro by patch-clamp recording. RESULTS : Eleven patients were assessed. They had recurrent heterozygous DNVs in KCNQ3 affecting residues R230 (R230C, R230H, R230S) and R227 (R227Q). All patients exhibited global developmental delay within the first two years of life. Most (8/11, 73%) were non-verbal or had a few words only. All patients had autistic features and autism spectrum disorder (ASD) was diagnosed in 5/11 (45%). EEGs performed before 10 years of age revealed frequent sleep-activated multifocal epileptiform discharges in 8/11 (73%). For 6/9 (67%) recorded between 1.5 and 6 years of age, spikes became near-continuous during sleep. Interestingly, most patients (9/11, 82%) did not have seizures and no patient had seizures in the neonatal period. Voltage-clamp recordings of the mutant KCNQ3 channels revealed gain-of-function (GoF) effects. INTERPRETATION : Specific GoF variants in KCNQ3 cause NDD, ASD and abundant sleep-activated spikes. This new phenotype contrasts both with self-limited neonatal epilepsy due to KCNQ3 partial loss-of-function, and with the neonatal or infantile-onset epileptic encephalopathies due to KCNQ2 GoF. This article is protected by copyright. All rights reserved.

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6. Solis M, Reutebuch CK, Falcomata T, Steinle PK, Miller VL, Vaughn S. Vocabulary and Main Idea Reading Intervention Using Text Choice to Improve Content Knowledge and Reading Comprehension of Adolescents With Autism Spectrum Disorder. Behav Modif ;2019 (Jun 10):145445519853781.

This simultaneous replication single-case design study investigated a vocabulary and main idea intervention with an aspect of text choice provided to students with autism spectrum disorder (ASD). Five middle school students with ASD participated in two instructional groups taught by school-based personnel. Results were initially mixed. These results were followed by upward and stable trends, indicating a functional relationship between the independent and dependent variables. Social validity measures indicated that students appreciated the opportunity to make choices on text selection.

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7. Xiang AH, Chow T, Martinez MP, Getahun D, Page KA, Buchanan TA, Feldman RK. Hemoglobin A1c Levels During Pregnancy and Risk of Autism Spectrum Disorders in Offspring. JAMA ;2019 (Jun 9)

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