Pubmed du 10/08/19

samedi 10 août 2019

1. Bernard Paulais MA, Mazetto C, Thiebaut E, Nassif MC, Costa Coelho De Souza MT, Stefani AP, Blanc R, Gattegno MP, Aiad F, Sam N, Belal L, Fekih L, Kaye K, Contejean Y, Wendland J, Barthelemy C, Bonnet-Brilhault F, Adrien JL. Heterogeneities in Cognitive and Socio-Emotional Development in Children With Autism Spectrum Disorder and Severe Intellectual Disability as a Comorbidity. Front Psychiatry ;2019 ;10:508.

Introduction : Intellectual disability (ID) is frequently associated as a comorbidity in autism spectrum disorders (ASD). This study investigated a) how similar the heterogeneity in the cognitive and socio-emotional developmental profiles was for children with ASD and ID, b) the difference between the subjects’ profiles and those of typically developing children (TD) matched for developmental levels, c) the skills existing with the lowest and highest developmental levels, and d) the relationship between developmental profiles in ASD and the severity of autism, ID, and the overall developmental level. Participants : The sample was comprised of 119 children (101 boys and 18 girls) who ranged in chronological age (CA) from 21 months to 14 years (M = 5 years 2 months ; SD = 2 years 6 months) with developmental levels lower than 24 months. They came from three countries (France = 40, Brazil = 40, and Algeria = 39). The control group was comprised of 40 TD children from these same countries who ranged in CA from 4 to 24 months (M = 1 year 3 months ; SD = 5 months). The ASD diagnosis was carried out according to International Statistical Classification of Diseases and Related Health Problems-10th Edition (ICD-10), Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision (DSM-IV-TR), Diagnostic and Statistical Manual of Mental Disorders-5th ed (DSM-5) criteria and the Childhood Autism Rating Scale (CARS). Measures : Children were tested using the Social Cognitive Evaluation Battery (SCEB ; Adrien, 2007) by trained psychologists from public and private institutions specialized in the diagnosis of autism and interventions in this field. The SCEB explores 16 functional abilities, in both cognitive and socio-emotional areas, and allows the calculation of domain and area developmental levels and heterogeneity indices for the global, cognitive, and socio-emotional areas. Results : Children with ASD developmental profiles show very high heterogeneity as opposed to TD children. Regardless of the country of origin, there are similarities between the heterogeneous cognitive and socio-emotional developmental profiles of the children with ASD, whose profiles are characterized by lower developmental levels of language and vocal imitation skills, and a relationship between these developmental heterogeneities and the degree of severity of autistic symptomatology, intellectual disability, and overall development level. The implications of this study are presented for clinical assessment and intervention purposes in ASD and ID.

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2. Catino E, Perroni G, Di Trani M, Alfonsi C, Chiarotti F, Cardona F. Application of the Scale for the Assessment of Feeding Interaction (SVIA) to Children With Autism Spectrum Disorder. Front Psychiatry ;2019 ;10:529.

Background and Objectives : Feeding problems occur more frequently among children with Autism spectrum disorder (ASD). The aim of this study was to analyse eating difficulties of ASD children through the direct observation of the caregiver-child co-regulation system. Methods : We compared 60 ASD children with a control group of 50 typically developing Italian children on the Scale for the Assessment of Feeding Interaction (SVIA). The Brief Autism Mealtime Behaviour Inventory (BAMBI) was used to define the presence of an eating disorder. Results : The ASD group showed higher scores on all dimensions of the SVIA compared to the control group. The SVIA and the BAMBI showed significant correlations. In a second step, the ASD sample was divided into two subgroups, children with and without feeding difficulties. The comparison between the ASD subgroups with the control group on the SVIA scales showed significant differences on all dimensions. Finally, significant differences emerged between the two ASD subgroups in three SVIA dimensions. Conclusion : These data suggest the importance of direct observation of feeding in the assessment of children with ASD. The SVIA seems to be able to point out some feeding difficulties in these subjects and to discriminate ASD with and without an eating disorder. Critical aspects of the application of SVIA to autistic children are discussed.

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3. Fenning RM, Erath SA, Baker JK, Messinger DS, Moffitt J, Baucom BR, Kaeppler AK. Sympathetic-Parasympathetic Interaction and Externalizing Problems in Children with Autism Spectrum Disorder. Autism Res ;2019 (Aug 9)

Children with autism spectrum disorder (ASD) exhibit significant difficulties with emotion regulation and reactivity, which may be linked to underlying psychophysiology. The present study examined associations between autonomic nervous system activity and individual differences in externalizing behavior problems in children with ASD. A multisystem approach was adopted to consider the interplay between markers of sympathetic (electrodermal reactivity-EDA-R) and parasympathetic reactivity (respiratory sinus arrhythmia reactivity-RSA-R) in relation to behavioral challenges. Fifty-two children with ASD ages 6-10 years contributed complete psychophysiological data. Measures of EDA-R and RSA-R (RSA withdrawal) were obtained in response to a laboratory challenge task and parents reported on child externalizing behavior problems using a standardized questionnaire and a structured clinical interview. An equifinality model was supported, with two distinct psychophysiological pathways linked to heightened externalizing behavior problems. Greater RSA-R was associated with more externalizing problems in the context of higher levels of EDA-R, and lower EDA-R was associated with increased externalizing problems at lower levels of RSA-R. Findings underscore the importance of considering the role of psychophysiology in the unfolding of comorbid externalizing problems in children with ASD. Potential implications for tailoring coregulatory supports are discussed. Autism Res 2019, 00 : 1-15. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Children with autism spectrum disorder (ASD) exhibit elevated rates of challenging behavior. This study identified specific psychophysiological profiles (low sympathetic-low parasympathetic reactivity, and high sympathetic-high parasympathetic reactivity) that may place these children at greater risk for behavior problems. Findings have implications for better understanding behavioral challenges in children with ASD, and for tailoring supports to address underlying psychophysiology.

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4. Herbrecht E, Lazari O, Notter M, Schmeck K, Spiegel R. Process research in early intensive intervention in autism spectrum disorder : Sensitivity to change of the autism behavior coding system. Autism Res ;2019 (Aug 9)

The development of sensitive measures to capture changes in core autism symptoms is crucial in early intervention research. The study examines the sensitivity to change of the Autism Behavior Coding System (ABCS), a video-based instrument to assess core autism symptoms during therapist-child interaction. Video sequences of 40 young children treated in the Fruhintervention bei Autistischen Storungen center were analyzed with regard to the question of whether short-term changes during an 18 day period of early intervention could be captured, and whether these results are reflected in an independent clinical assessment (Developmental Disorders-Child-Global Assessment Scale [DD-C-GAS]). ABCS results showed statistically significant improvements on behavioral domains such as "expression of wishes" and "social cooperative behavior" (P < 0.01), less pronounced on "eye contact." Improvements on the DD-C-GAS were highly significant on all subdomains. Both scales showed high correlations within their subdomains, yet no significant correlations between the changes in both instruments’ scores were found. An additional analysis between the DD-C-GAS scores at day 18 and the changes in the ABCS scores showed statistically significant associations in the expected direction between the changes in the variable "eye contact" and all DD-C-GAS subdomains. The correspondence of the two levels of assessment is low, but the specifics of this relationship deserve further study. The ABCS may prove useful in addition to standard assessment tools, especially in early intervention research settings, as it allows reliable analysis of core behavioral elements in young children with autism. Autism Res 2019, 00 : 1-12. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY : The study examined the sensitivity of an autism-specific video coding system (ABCS) in assessing changes after an 18 day period of intensive early intervention. Video sequences of therapist-child-interaction of 40 young children with autism spectrum disorder (ASD) were analyzed. Children’s behavior improved in expression of wishes, social cooperativity and eye contact. A therapist-based global assessment scale also showed important improvement after 18 days, yet both assessment instruments showed weak correlations between their respective changes. We showed that the ABCS may prove useful in capturing short-term changes in autism-related behaviors, especially in early intervention research.

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5. Lukmanji S, Manji SA, Kadhim S, Sauro KM, Wirrell EC, Kwon CS, Jette N. The co-occurrence of epilepsy and autism : A systematic review. Epilepsy Behav ;2019 (Aug 6) ;98(Pt A):238-248.

OBJECTIVE : We aimed to review the literature to determine the incidence and prevalence of autism in epilepsy and epilepsy in autism, conditions that are often comorbid. METHODS : We adhered to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) standards, and the protocol was registered with PROSPERO. MEDLINE, Embase, PsycINFO, and the Cochrane Database of Systematic Reviews were searched from inception until July 4, 2016. Studies were included if they reported an incidence or prevalence of autism in epilepsy or epilepsy in autism. These estimates were described using mean, standard deviation, median, and interquartile range. RESULTS : Seventy-four studies reporting on 283,549 patients were included. The median overall period prevalence of epilepsy in people with autism was 12.1% while the median overall period prevalence of autism in people with epilepsy was 9.0% when including all population types. When excluding studies that investigated patients with syndromic epilepsy or developmental delay, the median overall period prevalence of epilepsy in people with autism was 11.2% while the median overall period prevalence of autism in people with epilepsy was 8.1%. We observed trends for sex as the prevalence of autism in epilepsy was higher in males while the prevalence of epilepsy in autism was higher in females. It is important to interpret these estimates with caution, as there was significant heterogeneity between studies. Meta-regression found no association between study quality and prevalence or incidence estimates (all p-values>0.05). CONCLUSIONS : The period prevalence of epilepsy in people with autism, and vice versa, was consistently higher than previously reported estimates of the occurrence of these disorders in the general population. These findings highlight the importance of screening for autism in people who have epilepsy and epilepsy in people who have autism and may help shed light on shared pathogenesis between these conditions.

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6. Monteiro S, Pinto J, Mira Coelho A, Leao M, Doria S. Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders. Neuropediatrics ;2019 (Aug 9)

BACKGROUND : Autism spectrum disorders (ASD) affect many children with an estimated prevalence of 1%. Array-comparative genomic hybridization (CGH) offers significant sensitivity for the identification of submicroscopic chromosomal abnormalities and it is one of the most used techniques in daily practice. The main objective of this study was to describe the usefulness of array-CGH in the etiologic diagnosis of ASD. METHODS : Two-hundred fifty-three patients admitted to a neurogenetic outpatient clinic and diagnosed with ASD were selected for array-CGH (4 x 180K microarrays). Public databases were used for classification in accordance with the American College of Medical Genetics Standards and Guidelines. RESULTS : About 3.56% (9/253) of copy number variations (CNVs) were classified as pathogenic. When likely pathogenic CNVs were considered, the rate increased to 11.46% (29/253). Some CNVs apparently not correlated to the ASD were also found. Considering a phenotype-genotype correlation, the patients were divided in two groups. One group according to previous literature includes all the CNVs related to ASDs (23 CNVs present in 22 children) and another with those apparently not related to ASD (10 CNVs present in 7 children). In 18 patients, a next-generation sequencing (NGS) panel were performed. From these, one pathogenic and 16 uncertain significance variants were identified. CONCLUSION : The results of our study are in accordance with the literature, highlighting the relevance of array-CGH in the genetic of diagnosis of ASD population, namely when associated with other features. Our study also reinforces the need for complementarity between array-CGH and NGS panels or whole exome sequencing in the etiological diagnosis of ASD.

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7. Orefice LL, Mosko JR, Morency DT, Wells MF, Tasnim A, Mozeika SM, Ye M, Chirila AM, Emanuel AJ, Rankin G, Fame RM, Lehtinen MK, Feng G, Ginty DD. Targeting Peripheral Somatosensory Neurons to Improve Tactile-Related Phenotypes in ASD Models. Cell ;2019 (Aug 8) ;178(4):867-886.e824.

Somatosensory over-reactivity is common among patients with autism spectrum disorders (ASDs) and is hypothesized to contribute to core ASD behaviors. However, effective treatments for sensory over-reactivity and ASDs are lacking. We found distinct somatosensory neuron pathophysiological mechanisms underlie tactile abnormalities in different ASD mouse models and contribute to some ASD-related behaviors. Developmental loss of ASD-associated genes Shank3 or Mecp2 in peripheral mechanosensory neurons leads to region-specific brain abnormalities, revealing links between developmental somatosensory over-reactivity and the genesis of aberrant behaviors. Moreover, acute treatment with a peripherally restricted GABAA receptor agonist that acts directly on mechanosensory neurons reduced tactile over-reactivity in six distinct ASD models. Chronic treatment of Mecp2 and Shank3 mutant mice improved body condition, some brain abnormalities, anxiety-like behaviors, and some social impairments but not memory impairments, motor deficits, or overgrooming. Our findings reveal a potential therapeutic strategy targeting peripheral mechanosensory neurons to treat tactile over-reactivity and select ASD-related behaviors.

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8. Ruzzo EK, Perez-Cano L, Jung JY, Wang LK, Kashef-Haghighi D, Hartl C, Singh C, Xu J, Hoekstra JN, Leventhal O, Leppa VM, Gandal MJ, Paskov K, Stockham N, Polioudakis D, Lowe JK, Prober DA, Geschwind DH, Wall DP. Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. Cell ;2019 (Aug 8) ;178(4):850-866.e826.

We performed a comprehensive assessment of rare inherited variation in autism spectrum disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families with multiple affected children. We implicate 69 genes in ASD risk, including 24 passing genome-wide Bonferroni correction and 16 new ASD risk genes, most supported by rare inherited variants, a substantial extension of previous findings. Biological pathways enriched for genes harboring inherited variants represent cytoskeletal organization and ion transport, which are distinct from pathways implicated in previous studies. Nevertheless, the de novo and inherited genes contribute to a common protein-protein interaction network. We also identified structural variants (SVs) affecting non-coding regions, implicating recurrent deletions in the promoters of DLG2 and NR3C2. Loss of nr3c2 function in zebrafish disrupts sleep and social function, overlapping with human ASD-related phenotypes. These data support the utility of studying multiplex families in ASD and are available through the Hartwell Autism Research and Technology portal.

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9. Sanfeliu A, Kaufmann WE, Gill M, Guasoni P, Tropea D. Transcriptomic Studies in Mouse Models of Rett Syndrome : A Review. Neuroscience ;2019 (Aug 10) ;413:183-205.

Rett Syndrome (RTT) is a neurological disorder mainly associated with mutations in the X-linked gene coding for the methyl-CpG binding protein 2 (MECP2). To assist in studying MECP2’s function, researchers have generated Mecp2 mouse mutants showing that MECP2’s product (MeCP2) mostly functions as a transcriptional regulator. During the last two decades, these models have been used to determine the genes that are regulated by MeCP2, slowly dissecting the etiological mechanisms underlying RTT. In the present review, we describe the findings of these transcriptomic studies, and highlight differences between them, and discuss how studies on these genetic models can sharpen our understanding of the human disorder. We conclude that - while there’s large variability regarding the number of differentially expressed genes identified - there are overlapping features that inform on the biology of RTT.

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10. Timimi S, Milton D, Bovell V, Kapp S, Russell G. Deconstructing Diagnosis : Four Commentaries on a Diagnostic Tool to Assess Individuals for Autism Spectrum Disorders. Autonomy (Birm) ;2019 (Jun 21) ;1(6)

Diagnostic assessment tools are widely used instruments in research and clinical practice to assess and evaluate autism symptoms for both children and adults. These tools typically involve observing the child or adult under assessment, and rating their behaviour for signs or so-called symptoms of autism. In order to examine how autism diagnosis is constructed, how diagnostic tools are positioned, and how their trainings are delivered, we paid for four places on a training course for a diagnostic tool. We asked the attendees (the first four authors) to each produce a critical commentary about their impressions of the training and the diagnostic tool itself. Their commentaries are published here in full. They have various disciplinary backgrounds : one is a social scientist, one an ethicist, one a psychiatrist, and one a developmental psychologist. The commentaries are followed by a concluding section that summarises the themes, commonalities, and differences between their accounts of the training course. Authors differed as to whether the diagnostic tool is a useful and necessary endeavour. Nevertheless, all critiqued of the tool’s lack of transparency, recognizing context, emotion, and differences in interpretation and power imbalances as playing an unidentified role in the assessment process. Based on this project, we recommend that training for raters for such tools should be accessible to a wider group of people, and incorporate more explicit recognition of its own limitations and commercialisation.

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11. Wang M, Zhang D, Huang J, Yap PT, Shen D, Liu M. Identifying Autism Spectrum Disorder with Multi-Site fMRI via Low-Rank Domain Adaptation. IEEE Trans Med Imaging ;2019 (Aug 5)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by a wide range of symptoms. Identifying biomarkers for accurate diagnosis is crucial for early intervention of ASD. While multi-site data increase sample size and statistical power, they suffer from inter-site heterogeneity. To address this issue, we propose a multi-site adaption framework via low-rank representation decomposition (maLRR) for ASD identification based on functional MRI (fMRI). The main idea is to determine a common low-rank representation for data from the multiple sites, aiming to reduce differences in data distributions. Treating one site as a target domain and the remaining sites as source domains, data from these domains are transformed (i.e., adapted) to a common space using low-rank representation. To reduce data heterogeneity between the target and source domains, data from the source domains are linearly represented in the common space by those from the target domain. We evaluated the proposed method on both synthetic and real multi-site fMRI data for ASD identification. The results suggest that our method yields superior performance over several state-of-the-art domain adaptation methods.

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12. Wilkinson KM, Madel M. Eye Tracking Measures Reveal How Changes in the Design of Displays for Augmentative and Alternative Communication Influence Visual Search in Individuals With Down Syndrome or Autism Spectrum Disorder. Am J Speech Lang Pathol ;2019 (Aug 10):1-10.

Purpose This research note reports on how small changes to the organization of a simulated display for augmentative and alternative communication influence the visual search patterns of individuals with Down syndrome or autism, as measured through eye tracking technologies. Prior research had demonstrated that clustering symbols by their internal color facilitates search and reduces attention to distracters, in children with typical development. This research systematically replicated the procedures with individuals with Down syndrome or autism spectrum disorder. Method Participants engaged in a visual search task on a monitor with embedded automated eye tracking technology. Patterns of gaze during search were measured via this technology. Results Participants were significantly faster to fixate on the target and to select it with the mouse when the like-colored symbols were clustered together. In addition, participants were significantly less likely to fixate on distracters in the clustered condition. No group differences were found. Conclusions Small changes to the organization of the simulated augmentative and alternative communication display resulted in substantial differences in eye gaze and speed to find a target. Of greatest clinical import is the finding that clustering symbols reduced attention to distracters, given that individuals with disabilities may be prone to distraction.

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13. Wu HF, Lu TY, Chu MC, Chen PS, Lee CW, Lin HC. Targeting the inhibition of fatty acid amide hydrolase ameliorate the endocannabinoid-mediated synaptic dysfunction in a valproic acid-induced rat model of Autism. Neuropharmacology ;2019 (Aug 6):107736.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, characterized by social interaction impairment, stereotypical/repetitive behaviors and emotional deregulation. The endocannabinoid (eCB) system plays a crucial role in modulating the behavioral traits that are typically core symptoms of ASD. The major molecular mechanisms underlying eCB-dependent long-term depression (eCB-LTD) are mediated by group 1 metabotropic glutamate receptor (mGluR)-induced removal of postsynaptic alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs). Recently, modulation of anandamide (AEA), one of the main endocannabinoids in the brain, has been reported to alter social behaviors in genetic models of ASD. On this basis, we investigated the effects of treatment and the synaptic mechanism underlying AEA-mediated signaling in prenatal exposure to valproic acid (VPA) in rats. We found that the social deficits, repetitive behaviors and abnormal emotion-related behaviors in VPA-exposed offspring were improved after treatment with an inhibitor of AEA degrading enzyme, URB597. Using an integrative approach combing electrophysiological and cellular mechanisms, the results showed that the impaired eCB-LTD, abnormal mGluR-mediated LTD (mGluR-LTD) and decreased removal of AMPAR subunits GluA1 and GluA2 were reversed by URB597 in the prefrontal cortex (PFC) of VPA-exposed offspring. Taken together, these results provide the first evidence that rescue of the ASD-like phenotype by URB597 is mediated by enhancing the mechanism of removal of AMPAR subunits GluA1/2 underlying AEA signaling in the PFC in a VPA-induced model of ASD.

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14. Yang G, Shcheglovitov A. Probing disrupted neurodevelopment in autism using human stem cell-derived neurons and organoids : an outlook into the future diagnostics and drug development. Dev Dyn ;2019 (Aug 9)

Autism spectrum disorders (ASDs) represent a spectrum of neurodevelopmental disorders characterized by impaired social interaction, repetitive or restrictive behaviors, and problems with speech. According to a recent report by the Centers for Disease Control and Prevention, one in 68 children in the US is diagnosed with ASDs. Although ASD-related diagnostics and the knowledge of ASD-associated genetic abnormalities have improved in recent years, our understanding of the cellular and molecular pathways disrupted in ASD remains very limited. As a result, no specific therapies or medications are available for individuals with ASDs. In this review, we describe the neurodevelopmental processes that are likely affected in the brains of individuals with ASDs and discuss how patient-specific stem cell-derived neurons and organoids can be used for investigating these processes at the cellular and molecular levels. Finally, we propose a discovery pipeline to be used in the future for identifying the cellular and molecular deficits and developing novel personalized therapies for individuals with idiopathic ASDs. This article is protected by copyright. All rights reserved.

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