Pubmed du 25/11/18

dimanche 25 novembre 2018

1. Hui K, Katayama Y, Nakayama KI, Nomura J, Sakurai T. Characterizing vulnerable brain areas and circuits in mouse models of autism : Towards understanding pathogenesis and new therapeutic approaches. Neuroscience and biobehavioral reviews. 2018.

Recent human genetics studies have identified many genetic variants that may be responsible for autism spectrum disorder (ASD). ASD mouse models with genetic modifications mimicking these rare genetic variants have provided invaluable mechanistic insights into the disruption of various biological processes and brain areas/circuitry affected in ASD patients. In this review, we begin by reviewing several mouse models for ASD-associated copy number variations (CNVs) to illustrate how they have been employed to establish causal links between their behavioral phenotypes and the affected genes. We then focus on studies using one of the principal behavioral abnormalities associated with ASD, social behavior, to identify the molecular and circuit-level deficits involved. Finally, we end by discussing other mouse models designed to probe how the disruption of specific biological processes such as autophagy and neurogenesis may contribute to ASD pathogenesis. By achieving a greater understanding of the pathophysiology and pathogenic mechanisms involved in ASD and related disorders, novel therapeutic strategies may be devised for ASD patients in the near future.

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2. Lei XY, Li YJ, Ou JJ, Li YM. Association between parental body mass index and autism spectrum disorder : a systematic review and meta-analysis. European child & adolescent psychiatry. 2018.

Studies have examined the association between parental body mass index (BMI) and autism spectrum disorder (ASD) in offspring, with inconsistent results, especially regarding maternal obesity, overweight and underweight. Cochrane Library, EMBASE, PubMed and PsycINFO databases were searched up to March 2018 for relevant observational studies with no language restriction. Our literature search identified 13 eligible studies for meta-analysis (involving 943,293 children and 30,337 cases). For maternal BMI (13 studies), both maternal obesity [OR 1.41 (95% CI 1.19-1.67)] and maternal overweight [OR 1.16 (95% CI 1.05-1.27)] were significantly associated with ASD, while maternal underweight was not associated with ASD [OR 1.08 (95% CI 0.98-1.20)]. For paternal BMI (three studies), no association was found (paternal obesity : OR 1.28, 95% CI 0.94-1.74 ; overweight : OR 1.07, 95% CI 0.99-1.15 ; underweight : OR 1.12, 95% CI 0.87-1.44). Pooled estimates were robust in sensitivity analysis and subgroup analyses. Publication bias may exist for studies assessing maternal BMI and ASD risk, but the filled estimates were not altered. Relative to normal weight, maternal obesity and overweight were significantly associated with increased ASD risk, while maternal underweight was not associated with ASD. Although no association between paternal BMI and ASD was found, current evidence is limited (three studies). Future studies are warranted to address more confounding factors and to identify potential mediators of the association, but pre-pregnancy weight control is suggested.

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3. Lynch G. Using Pupillometry to Assess the Atypical Pupillary Light Reflex and LC-NE System in ASD. Behavioral sciences (Basel, Switzerland). 2018 ; 8(11).

With recent advances in technology, there has been growing interest in use of eye-tracking and pupillometry to assess the visual pathway in autism spectrum disorder (ASD). Within emerging literature, an atypical pupillary light reflex (PLR) has been documented, holding potential for use as a clinical screening biomarker for ASD. This review outlines dominant theories of neuropathology associated with ASD and integrates underlying neuroscience associated with the atypical PLR through a reciprocal model of brainstem involvement and cortical underconnectivity. This review draws from animal models of ASD demonstrating disruption of cranial motor nuclei and brain imaging studies examining arousal and the influence of the locus coeruleus norepinephrine (LC-NE) system on the pupillary response. Pupillometry methods are explained in relation to existing data examining the PLR in ASD and pupillary parameters of constriction latency and tonic pupil diameter as key parameters for investigation. This focused review provides preliminary data toward future work developing pupillometry metrics and offers direction for studies aimed at rigorous study replication using pupillometry with the ASD population. Experimental conditions and testing protocol for capturing pupil parameters with this clinical population are discussed to promote clinical research and translational application.

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4. Roemer EJ, West KL, Northrup JB, Iverson JM. Word comprehension mediates the link between gesture and word production : Examining language development in infant siblings of children with autism spectrum disorder. Developmental science. 2018 : e12767.

Children’s gesture production precedes and predicts language development, but the pathways linking these domains are unclear. It is possible that gesture production assists in children’s developing word comprehension, which in turn supports expressive vocabulary acquisition. The present study examines this mediation pathway in a population with variability in early communicative abilities-the younger siblings of children with autism spectrum disorder (ASD ; high-risk infants, HR). Participants included 92 HR infants and 28 infants at low risk (LR) for ASD. A primary caregiver completed the MacArthur-Bates Communicative Development Inventory (Fenson, et al., 1993) at 12, 14, and 18 months, and HR infants received a diagnostic evaluation for ASD at 36 months. Word comprehension at 14 months mediated the relationship between 12-month gesture and 18-month word production in LR and HR infants (ab = 0.263 ; p < 0.01). For LR infants and HR infants with no diagnosis or language delay, gesture was strongly associated with word comprehension (as = 0.666 ; 0.646 ; 0.561 ; ps < 0.01). However, this relationship did not hold for infants later diagnosed with ASD (a = 0.073 ; p = 0.840). This finding adds to a growing literature suggesting that children with ASD learn language differently. Furthermore, this study provides an initial step toward testing the developmental pathways by which infants transition from early actions and gestures to expressive language.

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5. Singh JS, Bunyak G. Autism Disparities : A Systematic Review and Meta-Ethnography of Qualitative Research. Qualitative health research. 2018 : 1049732318808245.

Racial, ethnic, and socioeconomic disparities associated with autism spectrum disorder (ASD) are evident across many service domains including access to early assessment, diagnosis, and therapeutic interventions. To better understand the complex social and structural factors contributing to these disparities, this article offers a systematic review of peer-reviewed qualitative research conducted from 2010 to 2016 in the United States that investigates autism disparities experienced by marginalized communities. Based on these criteria, we identified 24 qualitative research studies and conducted an analysis using meta-ethnography and an intersectional interpretive lens. We identified three interdependent themes contributing to autism disparities, including familial, cultural, and structural barriers. Omissions in the literature were also evident, including a lack of research on underserved adults with ASD and the gendered inequities of caregiving. We discuss the implications of our findings and offer new questions that take an intersectional approach using qualitative research to investigate autism disparities.

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6. Stordeur C, Boele A, Peyre H, Delorme R, Acquaviva E. Psychometric properties of the French Version of the Social Responsiveness Scale in autism spectrum disorder with or without attention deficit hyperactivity disorder. L’Encephale. 2018.

OBJECTIVES : The Social Responsiveness Scale (SRS) is an instrument that is commonly used to screen for Autism Spectrum Disorder (ASD). Attention Deficit Hyperactive Disorder (ADHD) frequently occurs with ASD and both disorders share some phenotypic similarities. In the present study, we aimed to determine the psychometric properties of the French version of the Social Responsiveness Scale (SRS) and its 5 subscales (social awareness, social cognition, social communication, social motivation, and autistic mannerisms) to discriminate between children with ADHD and those with ASD (differential diagnosis) and children with ADHD from those with a dual diagnosis of ADHD and ASD (comorbid diagnosis). METHOD : SRS total scores and the 5 subscores of the SRS were compared between 4 groups of children : ADHD (n=32), ASD+ADHD (n=30), ASD (n=31) and typical neurodevelopment (TD ; n=30) children. The discriminant validity was estimated using the Area Under the ROC Curves (AUC). RESULTS : SRS Social cognition (AUC=0.73) and Autistic mannerisms (AUC=0.70) subscores were the most discriminating for differential diagnosis of ASD and ADHD. SRS total scores (AUC=0.70), and Social communication (AUC=0.66) and Autistic mannerisms (AUC=0.75) subscores were the most discriminating for comorbid diagnosis of ASD among ADHD children. CONCLUSION : The SRS autistic mannerisms subscore was found to be clinically relevant for both differential diagnosis of ASD and ADHD and comorbid diagnoses of ASD among ADHD children but with a modest discriminant power.

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