Pubmed du 30/04/20

jeudi 30 avril 2020

1. Alolaby RR, Jiraanont P, Durbin-Johnson B, Jasoliya M, Tang HT, Hagerman R, Tassone F. Molecular Biomarkers Predictive of Sertraline Treatment Response in Young Children With Autism Spectrum Disorder. Front Genet. 2020 ; 11 : 308.

Sertraline is one among several selective serotonin reuptake inhibitors (SSRIs) that exhibited improvement of language development in Autism Spectrum Disorder (ASD) ; however, the molecular mechanism has not been elucidated. A double blind, randomized, 6-month, placebo-controlled, clinical trial of low-dose sertraline in children ages (3-6 years) with ASD was conducted at the UC Davis MIND Institute. It aimed at evaluating the efficacy and benefit with respect to early expressive language development and global clinical improvement. This study aimed to identify molecular biomarkers that might be key players in the serotonin pathway and might be predictive of a clinical response to sertraline. Fifty eight subjects with the diagnosis of ASD were randomized to sertraline or placebo. Eight subjects from the sertraline arm and five from the placebo arm discontinued from the study. Furthermore, four subjects did not have a successful blood draw. Hence, genotypes for 41 subjects (20 on placebo and 21 on sertraline) were determined for several genes involved in the serotonin pathway including the serotonin transporter-linked polymorphic region (5-HTTLPR), the tryptophan hydroxylase 2 (TPH2), and the Brain-Derived Neurotrophic Factor (BDNF). In addition, plasma levels of BDNF, Matrix metallopeptidase 9 (MMP-9) and a selected panel of cytokines were determined at baseline and post-treatment. Intent-to-treat analysis revealed several primary significant correlations between molecular changes and the Mullen Scales of Early Learning (MSEL) and Clinical Global Impression Scale - Improvement (CGI-I) of treatment and control groups but they were not significant after adjustment for multiple testing. Thus, sertraline showed no benefit for treatment of young children with ASD in language development or changes in molecular markers in this study. These results indicate that sertraline may not be beneficial for the treatment of children with ASD ; however, further investigation of larger groups as well as longer term follow-up studies are warranted.

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2. Anderson C, Butt C, Sarsony C. Young Adults on the Autism Spectrum and Early Employment-Related Experiences : Aspirations and Obstacles. J Autism Dev Disord. 2020.

In the United States, employment outcomes for young adults with an autism spectrum disorder (ASD) are poor, with many unemployed, underemployed, or otherwise unable to achieve their potential regardless of cognitive ability. To explore employment expectations and experiences, qualitative interviews were conducted with 12 young adults with ASD and 28 parents. Transcripts were analyzed using the constant comparative method associated with a grounded theory approach. Three major themes emerged : Employment Aspirations and Potential, Challenges of Job Finding and Keeping, and Differing Parent and Young Adult Work-Related Roles and Views. Issues discussed include the need to foster meaningful pre-employment opportunities, acknowledge the role of families in employment issues, provide ASD-focused workplace support, and effectively coordinate intersecting systems (e.g., schools, agencies, employers).

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3. Bertilsson I, Gard G, Sjodahl Hammarlund C. Physiotherapists’ experiences of the meaning of movement quality in autism : a descriptive phenomenological study. Physiotherapy theory and practice. 2020 : 1-10.

Introduction : Movement quality, represented in unrestricted movements, flow and pleasure, is often lacking in people with autism. One aspect is the non-verbal expression of the present emotional and psychological state of an individual.Purpose : To describe the meaning of movement quality in autism, as experienced by specialized physiotherapists.Method : Ten physiotherapists were interviewed. The data were recorded, transcribed verbatim, and analyzed using Giorgis descriptive phenomenological method.Findings : The general structure of movement quality in people with autism included eight key constituents : 1) reduced postural control ; 2) deviant muscle tone and tension ; 3) deviant sensory processing ; 4) a lack of conscious awareness ; 5) difficulties with body boundaries ; 6) coordinating movements (including breathing) ; 7) lack of anticipatory preparations of movements ; and 8) need of cognitive thoughts to control movements.Conclusions : This study provide an understanding of how movement quality in people with autism is expressed. Their lived bodies constantly need to protect themselves from sensory impressions from within or the surroundings, causing emotional distress and obscuring the meaning of their movements. Their bodily expression becomes restrained, fragmented, and hesitant. Understanding movement patterns and emotional reactions following their struggle with movements may facilitate constructive interaction and communication, which give important implications when designing physiotherapy interventions.

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4. Bottema-Beutel K, Crowley S, Sandbank M, Woynaroski TG. Research Review : Conflicts of Interest (COIs) in autism early intervention research - a meta-analysis of COI influences on intervention effects. J Child Psychol Psychiatry. 2020.

BACKGROUND : The presence, types, disclosure rates, and effects of conflicts of interest (COIs) on autism early intervention research have not previously been studied. The purpose of this study was to examine these issues. METHODS : This study is a secondary analysis of a comprehensive meta-analysis of all group-design, nonpharmacological early intervention autism research conducted between 1970 and 2018. We coded reports for the presence/absence of COI statements, the types of COIs that were disclosed, and for 8 types of COIs, including (a) the author developed the intervention, (b) the author is affiliated with a clinical provider, (c) the author is employed by a clinical provider, (d) the author is affiliated with an institution that trains others to use the intervention, (e) the author receives payment or royalties related to the intervention, (f) the study was funded by an intervention provider, (g) the study used a commercially available measure developed by the author, and (h) proceeds of the intervention fund the author’s research. Frequencies and proportions were calculated to determine prevalence of COIs and COI disclosures. Meta-analysis was used to estimate summary effects by COI type and to determine if they were larger than for reports with no coded COIs. RESULTS : Seventy percent of reports were coded for >/= 1 COI, but only 6% of reports contained COI statements fully accounting for all coded COIs. Metaregressions did not detect significant influences of any COI type on summary effects ; however, point estimates for each COI type were larger than for reports with no coded COIs. CONCLUSIONS : Conflicts of interest are prevalent but under-reported in autism early intervention research. Improved reporting practices are necessary for researcher transparency and would enable more robust examination of the effects of COIs on research outcomes.

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5. Buckley E, Pellicano E, Remington A. "The Real Thing I Struggle with is Other People’s Perceptions" : The Experiences of Autistic Performing Arts Professionals and Attitudes of Performing Arts Employers in the UK. J Autism Dev Disord. 2020.

This research examined in-depth the employment experiences of autistic performing arts professionals and the attitudes and adjustments of performing arts employers. We interviewed 18 autistic performing arts professionals and 19 performing arts employers. Autistic performing arts professionals described facing challenges in the workplace. Some autistic professionals had access to support, but the majority felt that there was not enough available and highlighted many ways in which they could be better supported. Performing arts employers varied in their experiences of working with autistic people, many had limited knowledge about autism-specific support or relied on other professionals to provide it. These findings shed light on current unmet support needs of autistic performing arts professionals, and provide key recommendations for research and practice.

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6. Casanova MF, Casanova EL, Frye RE, Baeza-Velasco C, LaSalle JM, Hagerman RJ, Scherer SW, Natowicz MR. Editorial : Secondary vs. Idiopathic Autism. Frontiers in psychiatry. 2020 ; 11 : 297.

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7. Choi KR, Knight EA, Stein BD, Coleman KJ. Autism Insurance Mandates in the US : Comparison of Mandated Commercial Insurance Benefits Across States. Maternal and child health journal. 2020.

INTRODUCTION : Autism mandates are laws that require commercial insurers to cover certain evidence-based treatments for Autism Spectrum Disorder (ASD). The purpose of this study was to review state variability in autism insurance mandates and the benefits they cover and to discuss recommendations for research and policy to improve ASD services across states. METHODS : Data were extracted from 2001 to 2020 from all 50 states plus the District of Columbia (N = 51) from policy text. News articles and websites of ASD advocacy organizations were also reviewed to ensure inclusion of the most recent policy changes. Descriptive statistics and heatmaps were used to characterize the autism mandate landscape and visualize variability in benefit parameters across states. RESULTS : Autism mandates vary greatly in benefit parameters across US states, but there is a common set of benefits that most states have adopted. These include coverage of provider-recommended ASD services except for medical equipment, coverage up to an age limit of 18 to 21, an annual dollar limit of $36,000 with no restriction on the number of hours or visits, no lifetime cap on benefits, and requirement of BCBA(R) certification or its equivalent for providers of ABA. DISCUSSION : There is a need for continued research evaluating the impact of autism mandates and benefit parameters on access to care, service utilization, and clinical outcomes for the ASD population. Stakeholder engagement and understanding the impact of autism mandates on clinical and patient-centered outcomes may provide direction for policy advocacy and public health initiatives.

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8. Coleman-Fountain E, Buckley C, Beresford B. Improving mental health in autistic young adults : a qualitative study exploring help-seeking barriers in UK primary care. The British journal of general practice : the journal of the Royal College of General Practitioners. 2020 ; 70(694) : e356-e63.

BACKGROUND : Autistic people are at increased risk of developing mental health problems. To reduce the negative impact of living with autism in a non-autistic world, efforts to improve take-up and access to care, and support in early years, which will typically start with a GP appointment, must be grounded in the accounts of autistic young adults. AIM : To explore how autistic young adults understand and manage mental health problems ; and to consider help seeking as a focus. DESIGN AND SETTING : A cross-sectional, qualitative study. Autistic participants were purposively selected to represent a range of mental health conditions including anxiety and depression. A subsample were recruited from a population cohort screened for autism in childhood. The study concerns access to primary care. METHOD : Nineteen autistic young adults without learning disabilities, aged 23 or 24 years, were recruited. In-depth, semi-structured interviews explored how they understood and managed mental health problems. Data were analysed thematically. RESULTS : Young adults preferred self-management strategies. Multiple factors contributed to a focus on self-management, including : beliefs about the aetiology of mental health difficulties and increased vulnerability with the context of a diagnosis of autism, knowledge of self-management, and a view that formal support was unavailable or inadequate. Families had limited awareness of professional support. CONCLUSION : Young autistic adults without learning disabilities, and their families, may hold erroneous beliefs about autism and mental health. This may affect help seeking and contribute to an exacerbation of symptoms. GPs need to be alert to the fact that autistic young adults in their care may be experiencing mental health difficulties but may not recognise them as such.

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9. Duan S, Lee M, Wolf J, Naples AJ, McPartland JC. Higher Depressive Symptoms Predict Lower Social Adaptive Functioning in Children and Adolescents with ASD. J Clin Child Adolesc Psychol. 2020 : 1-8.

Objective : Despite the frequent occurrence of depressive symptoms in children and adolescents with autism spectrum disorder (ASD), few studies have investigated the relationship between depressive symptoms and adaptive functioning. The present study explored the impact of depressive symptoms on different domains of adaptive functioning in children and adolescents with ASD.Methods : Depressive symptoms and adaptive functioning were analyzed in 62 children and adolescents with ASD (20 females) and 36 children and adolescents (15 females) with typical development between 5 and 18 years of age.Results : After controlling for IQ, age and sex, higher depressive symptoms predicted lower functioning in the social domain among children and adolescents with ASD. Depressive symptoms did not significantly predict communication or daily living skills.Conclusions : These findings highlight the relevance of depression in social adaptive function in ASD and emphasize the importance of assessing depressive symptomatology when evaluating social skills and planning treatment for children and adolescents with ASD.

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10. Falligant JM, Pence ST. Interventions for inappropriate sexual behavior in individuals with intellectual and developmental disabilities : A brief review. Journal of applied behavior analysis. 2020.

Although prevalence rates vary, 6% to 28% of individuals with intellectual or developmental disabilities (IDDs) engage in inappropriate sexual behavior (ISB), ranging from public masturbation to sexually aggressive behavior. Along with increased risk for contacting the criminal justice system, people with IDDs who display ISB may encounter negative social consequences, restricted community access and barriers to independence, and a variety of counter-therapeutic outcomes. The purpose of the present review is to highlight recent, efficacious behavior-analytic treatments for ISB in individuals with IDDs. Ethical considerations and areas for future research will be discussed.

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11. Frackowiak J, Mazur-Kolecka B, Mehta P, Wegiel J. Enhanced accumulation of N-terminally truncated Abeta with and without pyroglutamate-11 modification in parvalbumin-expressing GABAergic neurons in idiopathic and dup15q11.2-q13 autism. Acta neuropathologica communications. 2020 ; 8(1) : 58.

Autism, the most frequent neurodevelopmental disorder of a very complex etiopathology, is associated with dysregulation of cellular homeostatic mechanisms, including processing of amyloid-beta precursor protein (APP). Products of APP processing - N-terminally truncated amyloid-beta peptide (N-tr-Abeta) species - are accumulated in autism in neurons and glia in the cortex, cerebellum, and subcortical structures of the brain. This process in neurons is correlated with increased oxidative stress. Because abnormally high levels of N-tr-Abeta are detected in only a fraction of neurons in the prefrontal cortex, we applied immunocytochemical staining and confocal microscopy in autopsy brain material from idiopathic and chromosome 15q11.2-q13 duplication (dup-15) autism to measure the load of N-tr-Abeta in the cells and synapses and to identify the subpopulation of neurons affected by these pathophysiological processes. The peptides accumulated in autism are N-terminally truncated ; therefore, we produced a new antibody against Abeta truncated at N-terminal amino acid 11 modified to pyroglutamate to evaluate the presence and distribution of this peptide species in autism. We also quantified and characterized the oligomerization patterns of the Abeta-immunoreactive peptides in autism and control frozen brain samples. We provide morphological evidence, that in idiopathic and dup-15 autism, accumulation of N-tr-Abeta with and without pyroglutamate-11 modified N-terminus affects mainly the parvalbumin-expressing subpopulation of GABAergic neurons. N-tr-Abeta peptides are accumulated in neurons’ cytoplasm and nucleus as well as in GABAergic synapses. Abeta peptides with both C-terminus 40 and 42 were detected by immunoblotting in frozen cortex samples, in the form of dimers and complexes of the molecular sizes of 18-24kD and 32-34kD. We propose that deposition of N-tr-Abeta specifically affects the functions of the parvalbumin-expressing GABAergic neurons and results in a dysregulation of brain excitatory-inhibitory homeostasis in autism. This process may be the target of new therapies.

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12. Hawari I, Eskandar MB, Alzeer S. The Role of Lead, Manganese, and Zinc in Autism Spectrum Disorders (ASDs) and Attention-Deficient Hyperactivity Disorder (ADHD) : a Case-Control Study on Syrian Children Affected by the Syrian Crisis. Biological trace element research. 2020.

Autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are two developmental disorders that affect children worldwide, and are linked to both genetic and environmental factors. This study aims to investigate the levels of lead, manganese, and zinc in each of ASD, ADHD, and ASD with comorbid ADHD in Syrian children born or grown during the Syrian crisis. Lead and manganese were measured in the whole blood, and zinc was measured in the serum in 31 children with ASD, 29 children with ADHD, and 11 children with ASD with comorbid ADHD (ASD-C) compared with 30 healthy children, their ages ranged between 3 and 12 years. Blood lead levels were higher in the groups of ASD-C (245.42%), ASD (47.57%), and ADHD (14.19%) compared with control. Lead levels were significantly higher in children with ASD in the age of 5 or less compared with control, and they were also higher in the male ASD compared with females (P = 0.001). Blood manganese levels were lower in the groups of ASD-C (10.35%), ADHD (9.95%, P = 0.026), and ASD (9.64%, P = 0.046). However, serum zinc levels were within the reference range in all groups of study. Lead and manganese were positively correlated with each other (P = 0.01). Lead increase and manganese decrease may associate with the incidence of ASD, ADHD, or the co-occurrence of both of them together. Further studies are needed to examine the relationship between metal levels and the co-occurrence of ASD and ADHD together.

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13. Lawrence KE, Hernandez LM, Bowman HC, Padgaonkar NT, Fuster E, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Green SA, Bookheimer SY, Dapretto M. Sex Differences in Functional Connectivity of the Salience, Default Mode, and Central Executive Networks in Youth with ASD. Cereb Cortex. 2020.

Autism spectrum disorder (ASD) is associated with the altered functional connectivity of 3 neurocognitive networks that are hypothesized to be central to the symptomatology of ASD : the salience network (SN), default mode network (DMN), and central executive network (CEN). Due to the considerably higher prevalence of ASD in males, however, previous studies examining these networks in ASD have used primarily male samples. It is thus unknown how these networks may be differentially impacted among females with ASD compared to males with ASD, and how such differences may compare to those observed in neurotypical individuals. Here, we investigated the functional connectivity of the SN, DMN, and CEN in a large, well-matched sample of girls and boys with and without ASD (169 youth, ages 8-17). Girls with ASD displayed greater functional connectivity between the DMN and CEN than boys with ASD, whereas typically developing girls and boys differed in SN functional connectivity only. Together, these results demonstrate that youth with ASD exhibit altered sex differences in these networks relative to what is observed in typical development, and highlight the importance of considering sex-related biological factors and participant sex when characterizing the neural mechanisms underlying ASD.

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14. McPartland JC, Bernier RA, Jeste SS, Dawson G, Nelson CA, Chawarska K, Earl R, Faja S, Johnson SP, Sikich L, Brandt CA, Dziura JD, Rozenblit L, Hellemann G, Levin AR, Murias M, Naples AJ, Platt ML, Sabatos-DeVito M, Shic F, Senturk D, Sugar CA, Webb SJ. The Autism Biomarkers Consortium for Clinical Trials (ABC-CT) : Scientific Context, Study Design, and Progress Toward Biomarker Qualification. Frontiers in integrative neuroscience. 2020 ; 14 : 16.

Clinical research in neurodevelopmental disorders remains reliant upon clinician and caregiver measures. Limitations of these approaches indicate a need for objective, quantitative, and reliable biomarkers to advance clinical research. Extant research suggests the potential utility of multiple candidate biomarkers ; however, effective application of these markers in trials requires additional understanding of replicability, individual differences, and intra-individual stability over time. The Autism Biomarkers Consortium for Clinical Trials (ABC-CT) is a multi-site study designed to investigate a battery of electrophysiological (EEG) and eye-tracking (ET) indices as candidate biomarkers for autism spectrum disorder (ASD). The study complements published biomarker research through : inclusion of large, deeply phenotyped cohorts of children with ASD and typical development ; a longitudinal design ; a focus on well-evidenced candidate biomarkers harmonized with an independent sample ; high levels of clinical, regulatory, technical, and statistical rigor ; adoption of a governance structure incorporating diverse expertise in the ASD biomarker discovery and qualification process ; prioritization of open science, including creation of a repository containing biomarker, clinical, and genetic data ; and use of economical and scalable technologies that are applicable in developmental populations and those with special needs. The ABC-CT approach has yielded encouraging results, with one measure accepted into the FDA’s Biomarker Qualification Program to date. Through these advances, the ABC-CT and other biomarker studies in progress hold promise to deliver novel tools to improve clinical trials research in ASD.

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15. Meisami A. Comment on "Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder". J Autism Dev Disord. 2020.

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16. Momtazmanesh S, Amirimoghaddam-Yazdi Z, Moghaddam HS, Mohammadi MR, Akhondzadeh S. Sulforaphane as an adjunctive treatment for irritability in Autism Spectrum Disorder : a randomized, double-blind, placebo-controlled clinical trial. Psychiatry and clinical neurosciences. 2020.

AIM : Autism Spectrum Disorder (ASD)-related irritability complicates the management of autistic patients at home and clinical settings. In this randomized, double-blind, placebo-controlled clinical trial, we aimed to investigate the beneficial effects of adjuvant treatment with risperidone and sulforaphane in alleviating irritability of ASD patients. METHODS : Sixty drug-free patients, aged 4-12 years, were randomly assigned to two groups receiving risperidone plus sulforaphane or placebo. Risperidone was started with a daily dose of 0.5 mg [>20 kg] and 0.25 mg in others and increased stepwise to reach a maximum of 1 mg [<20 kg], 2.5 mg [20 to <45kg], and 3.5 mg [>45kg]. Sulforaphane was administered with a daily dose of 50 mumol [<45kg] and 100 mumol [>45kg]. The participants were assessed with the Aberrant Behavior Checklist-Community (ABC-C) at baseline, weeks five and ten. RESULTS : Compared to the placebo group, ASD patients in the sulforaphane group showed greater improvements in irritability (primary outcome measure) (p = 0.001), hyperactivity/noncompliance (secondary outcome measure) (p = 0.015), and significant time x treatment effect for irritability (p = 0.007) and hyperactivity/noncompliance (p = 0.008). However, no difference was seen in improvements in the other secondary measures : lethargy/social interaction, stereotypic behavior, inappropriate speech, and frequency of adverse events. CONCLUSION : Our results support the safety and efficacy of sulforaphane as an adjuvant to risperidone for improvement of irritability and hyperactivity symptoms in ASD children. This article is protected by copyright. All rights reserved.

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17. Mottron L, Bzdok D. Autism spectrum heterogeneity : fact or artifact ?. Mol Psychiatry. 2020.

The current diagnostic practices are linked to a 20-fold increase in the reported prevalence of ASD over the last 30 years. Fragmenting the autism phenotype into dimensional "autistic traits" results in the alleged recognition of autism-like symptoms in any psychiatric or neurodevelopemental condition and in individuals decreasingly distant from the typical population, and prematurely dismisses the relevance of a diagnostic threshold. Non-specific socio-communicative and repetitive DSM 5 criteria, combined with four quantitative specifiers as well as all their possible combinations, render limitless variety of presentations consistent with the categorical diagnosis of ASD. We propose several remedies to this problem : maintain a line of research on prototypical autism ; limit the heterogeneity compatible with a categorical diagnosis to situations with a phenotypic overlap and a validated etiological link with prototypical autism ; reintroduce the qualitative properties of autism presentations and of current dimensional specifiers, language, intelligence, comorbidity, and severity in the criteria used to diagnose autism in replacement of quantitative "social" and "repetitive" criteria ; use these qualitative features combined with the clinical intuition of experts and machine-learning algorithms to differentiate coherent subgroups in today’s autism spectrum ; study these subgroups separately, and then compare them ; and question the autistic nature of "autistic traits".

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18. Muscatello RA, Andujar J, Taylor JL, Corbett BA. Exploring Key Physiological System Profiles at Rest and the Association with Depressive Symptoms in Autism Spectrum Disorder. J Autism Dev Disord. 2020.

Depression is often associated with dysfunction in the hypothalamic-pituitary-adrenal (HPA) axis and autonomic nervous system (ANS). Individuals with autism spectrum disorder (ASD) may experience physiological dysregulation and psychological comorbidities ; however, the extent to which the interactions between these systems predict internalizing symptoms in ASD has not been investigated. The study examined interactions with the HPA axis and ANS in 10-13-year-old children with ASD (n = 41) and typical development (TD ; n = 46). The interrelated systems uniquely contributed to depressive symptoms in ASD above and beyond any system in isolation. A reciprocal, parasympathetic-dominant ANS was related to fewer affective symptoms in ASD. Findings highlight the importance of examining arousal across multiple systems to more precisely identify profiles associated with maladaptive psychiatric outcomes in ASD.

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19. Palmer M, Paris Perez J, Tarver J, Cawthorne T, Frayne M, Webb S, Baker E, Yorke I, Hay D, Slonims V, Pickles A, Simonoff E, Scott S, Charman T. Development of the Observation Schedule for Children with Autism-Anxiety, Behaviour and Parenting (OSCA-ABP) : A New Measure of Child and Parenting Behavior for Use with Young Autistic Children. J Autism Dev Disord. 2020.

Co-occurring emotional and behavioral problems (EBPs) frequently exist in young autistic children. There is evidence based on parental report that parenting interventions reduce child EBPs. More objective measures of child EBPs should supplement parent reported outcomes in trials. We describe the development of a new measure of child and parenting behavior, the Observation Schedule for Children with Autism-Anxiety, Behaviour and Parenting (OSCA-ABP). Participants were 83 parents/carers and their 4-8-year-old autistic children. The measure demonstrated good variance and potential sensitivity to change. Child and parenting behavior were reliably coded among verbal and minimally verbal children. Associations between reports from other informants and observed behavior showed the measure had sufficient convergent validity. The measure has promise to contribute to research and clinical practice in autism mental health beyond objective measurement in trials.

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20. Peng Z, Chen J, Jin L, Han H, Dong C, Guo Y, Kong X, Wan G, Wei Z. Social brain dysfunctionality in individuals with autism spectrum disorder and their first-degree relatives : An activation likelihood estimation meta-analysis. Psychiatry research Neuroimaging. 2020 ; 298 : 111063.

The social brain hypothesis is regarded as a powerful theory to understand social cognition. Individuals with autism spectrum disorder (ASD) have specific deficits in social and communicative behavior, but the exact relationship between these deficits and abnormalities in the social brain remains unclear. The high heritability of this disorder makes it important to focus on the first-degree relatives of those affected. Research focusing on genetically at-risk (yet healthy) relatives of patients with ASD is critical to the study of neuroimaging endophenotypes. We conducted a voxel-wise activation likelihood estimation (ALE) meta-analysis of 9 functional neuroimaging studies published during the period from 2006 to 2018. These studies included 200 individuals with ASD, 216 unaffected family members (UF), and 235 typical development controls (TD). The voxel-wise significance threshold was p < 0.01 (uncorrected p = 0.001).The ALE meta-analyses showed hyperactivation in the inferior frontal gyrus (IFG) and superior temporal gyrus (STG) among individuals with ASD and UF, compared with TD individuals. Group comparisons showed greater likelihood of hyperactivation in the amygdala for ASD, compared with UF and TD.

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21. Picot MC, Michelon C, Bertet H, Pernon E, Fiard D, Coutelle R, Abbar M, Attal J, Amestoy A, Duverger P, Ritvo AR, Ritvo ER, Baghdadli A. The French Version of the Revised Ritvo Autism and Asperger Diagnostic Scale : A Psychometric Validation and Diagnostic Accuracy Study. J Autism Dev Disord. 2020.

The early recognition of ASD in adults is challenging, in particular due to the lack of appropriate and robust diagnostic tools. We performed a psychometric validation and diagnostic accuracy study of the French version of the RAADS-R on a sample of 305 adults : 105 with ASD without ID, 99 with psychiatric disorders, and 103 non-psychiatric control groups. The French version of the RAADS-R demonstrates good reliability and diagnostic validity, suggesting that it can help clinicians during the diagnostic process in adults with ASD without ID. However, the finding that a two-factor structure better fits the results requires further validation. This study point out the need of further study of RAADS in psychiatric disorders group due to the relatively high false positive rate (55.6%) of ASD.

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22. Sehovic E, Spahic L, Smajlovic-Skenderagic L, Pistoljevic N, Dzanko E, Hajdarpasic A. Identification of developmental disorders including autism spectrum disorder using salivary miRNAs in children from Bosnia and Herzegovina. PLoS One. 2020 ; 15(4) : e0232351.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by major social, communication and behavioural challenges. The cause of ASD is still unclear and it is assumed that environmental, genetic and epigenetic factors influence the risk of ASD occurrence. MicroRNAs (miRNAs) are short 21-25 nucleotide long RNA molecules which post-transcriptionally regulate gene expression. MiRNAs play an important role in central nervous system development ; therefore, dysregulation of miRNAs is connected to changes in behaviour and cognition observed in many disorders including ASD. Based on previously published work, on diagnosing ASD using miRNAs, we hypothesized that miRNAs can be used as biomarkers in children with suspected developmental disorders (DD) including ASD within Bosnian-Herzegovinian (B&H) population. 14 selected miRNAs were tested on saliva of children with suspected developmental disorders including ASD. The method of choice was qRT-PCR as a relatively cheap method available in most diagnostic laboratories in low to mid-income countries (LMIC). Out of 14 analysed miRNAs, 6 were differentially expressed between typically developing children and children with some type of developmental disorder including autism spectrum disorder. Using the most optimal logistic regression, we were able to distinguish between ASD and typically developing (TD) children. We have found 5 miRNAs as potential biomarkers. From those, 3 were differentially expressed within the ASD cohort. All 5 miRNAs had shown good chi-square statistics within the logistic regression performed on all 14 analysed miRNAs. The accuracy of 5-miRNAs model training set was 90.2%, while the validation set had a 90% accuracy. This study has shown that miRNAs may be considered as biomarkers for ASD detection and may be used to identify children with ASD along with standard developmental screening tests. By combining these methods we may be able to reach a reliable and accessible diagnostic model for children with ASD in LMIC such as B&H.

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23. Seng GJ, Tseng WL, Chiu YN, Tsai WC, Wu YY, Gau SS. Executive functions in youths with autism spectrum disorder and their unaffected siblings. Psychological medicine. 2020 : 1-10.

BACKGROUND : Executive dysfunction is one of the main cognitive theories of autism spectrum disorder (ASD). Despite evidence of deficits in executive functions in individuals with ASD, little is known about executive dysfunctions as candidate cognitive endophenotypes for ASD. In this study, we investigated executive functions in youths with ASD, their unaffected siblings and typically developing controls (TDC). METHODS : We recruited 240 youths with a clinical diagnosis of ASD (aged 6-18 years), 147 unaffected siblings of ASD youths, and 240 TDC youths. TDC youths were recruited based on the age and sex distribution of the ASD youths. Participants were assessed using the verbal Digit Span test and four executive function tasks from the Cambridge Neuropsychological Test Automated Battery, including Intra-dimensional/Extra-dimensional Shift (I/ED), Spatial Span (SSP), Spatial Working Memory (SWM), and Stocking of Cambridge (SoC). RESULTS : ASD youths, relative to TDC, performed significantly worse in executive function tasks assessing verbal working memory (forward and backward digit span), set-shifting (I/ED), visuospatial working memory (SSP, SWM), and planning/problem solving (SoC). Furthermore, unaffected siblings, relative to TDC, performed worse in forward and backward digit recalls and made more errors in SWM. These results were independent of the effects of age, sex, IQ, and symptoms of attention-deficit/hyperactivity disorder. CONCLUSIONS : Our findings support impaired executive functions in youths with ASD. However, unaffected siblings were mostly unimpaired except in the areas of verbal and spatial working memory, which may be potential cognitive endophenotypes for ASD.

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24. Wegner-Clemens K, Rennig J, Beauchamp MS. A relationship between Autism-Spectrum Quotient and face viewing behavior in 98 participants. PLoS One. 2020 ; 15(4) : e0230866.

Faces are one of the most important stimuli that we encounter, but humans vary dramatically in their behavior when viewing a face : some individuals preferentially fixate the eyes, others fixate the mouth, and still others show an intermediate pattern. The determinants of these large individual differences are unknown. However, individuals with Autism Spectrum Disorder (ASD) spend less time fixating the eyes of a viewed face than controls, suggesting the hypothesis that autistic traits in healthy adults might explain individual differences in face viewing behavior. Autistic traits were measured in 98 healthy adults recruited from an academic setting using the Autism-Spectrum Quotient, a validated 50-statement questionnaire. Fixations were measured using a video-based eye tracker while participants viewed two different types of audiovisual movies : short videos of talker speaking single syllables and longer videos of talkers speaking sentences in a social context. For both types of movies, there was a positive correlation between Autism-Spectrum Quotient score and percent of time fixating the lower half of the face that explained from 4% to 10% of the variance in individual face viewing behavior. This effect suggests that in healthy adults, autistic traits are one of many factors that contribute to individual differences in face viewing behavior.

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25. Wong J, Coster WJ, Cohn ES, Orsmond GI. Identifying School-Based Factors that Predict Employment Outcomes for Transition-Age Youth with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

There is a growing need to provide appropriate services to help students with autism spectrum disorder (ASD) transition to employment. Limited research has investigated what aspects of support should be prioritized when preparing youth with ASD for employment. By conducting structural equation modeling using a nationally-representative dataset on high school students receiving special education services (NLTS-2), this study examined the malleable predictors of employment during the transition and developed a model to examine the relationships between predictors and employment outcomes. The findings suggested two pathways for youth with ASD. For youth with higher daily functioning skills (DFS), academic performance mediated the relationship between parent participation and employment. For youth with lower DFS, school-based transition supports was the key mediator.

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26. Yaneva V, Ha LA, Eraslan S, Yesilada Y, Mitkov R. Detecting High-functioning Autism in Adults Using Eye Tracking and Machine Learning. IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society. 2020.

The purpose of this study is to test whether visual processing differences between adults with and without highfunctioning autism captured through eye tracking can be used to detect autism. We record the eye movements of adult participants with and without autism while they look for information within web pages. We then use the recorded eye-tracking data to train machine learning classifiers to detect the condition. The data was collected as part of two separate studies involving a total of 71 unique participants (31 with autism and 40 control), which enabled the evaluation of the approach on two separate groups of participants, using different stimuli and tasks. We explore the effects of a number of gaze-based and other variables, showing that autism can be detected automatically with around 74% accuracy. These results confirm that eye-tracking data can be used for the automatic detection of high-functioning autism in adults and that visual processing differences between the two groups exist when processing web pages.

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Accès direct au catalogue en ligne !

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Formations pour les Familles et les Proches

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1-Formation à l’état des connaissances de l’autisme

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