Pubmed du 10/02/20

lundi 10 février 2020

1. Daniel E, Menashe I. Exploring the familial role of social responsiveness differences between savant and non-savant children with autism. Sci Rep ;2020 (Feb 10) ;10(1):2255.

Savant syndrome is a phenomenon whereby individuals with cognitive impairments have one or more outstanding abilities, inconsistent with their general intellectual functioning. Approximately 50% of savant individuals have autism spectrum disorder (ASD), and 10-30% of people with ASD have savant skills. To shed additional light on this considerable overlap, we compared autistic traits as measured by the Social-Responsiveness-Scale (SRS) between 712 children with at least one reported savant skill, as determined by designated questions from the ADI-R questionnaire (savant group), and 2,032 non-savant children from the Simons-Simplex-Collection (SSC) database. We also examined SRS scores of the parents of these children and compared parent-child differences in SRS scores between the savant and non-savant groups. Savant children had significantly lower SRS scores (less deficiencies) compared to non-savant children (P < 0.05), while no such differences were observed among their parents. Further intra-familial analyses revealed weak pairwise-correlations (r = -0.015-0.141) between SRS scores of parents and their children, and significantly larger parent-child differences in standardized SRS scores within savant families (P < 0.05). These findings suggest that the less severe autistic traits among savant children with ASD compared to other people with ASD is not likely to be a familial trait.

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2. Dubois A, Boudjarane M, Le Fur-Bonnabesse A, Dion A, L’Heveder G, Quinio B, Walter M, Marchand S, Bodere C. Pain Modulation Mechanisms in ASD Adults. J Autism Dev Disord ;2020 (Feb 10)

We tested endogenous pain modulation mechanisms in adults with autism spectrum disorders (ASD). Nineteen ASD adults without intellectual disabilities were included, matched with 19 healthy volunteers on the basis of sex and chronological age. An experimental pain model was used to measure excitatory and inhibitory pain mechanisms in a single session. Statistical analyses indicated that endogenous pain modulation mechanisms in ASD group did not differ significantly from those of healthy adults. The pain scores were very disparate in ASD group with a greater range of extreme scores than in control group. Unlike schizophrenic patients, there was no systematic dysfunction of endogenous excitatory pain modulation mechanisms, but the high variability requires to be wise to interpret the results and formulate conclusion.

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3. Jonak CR, Lovelace JW, Ethell IM, Razak KA, Binder DK. Multielectrode array analysis of EEG biomarkers in a mouse model of Fragile X Syndrome. Neurobiol Dis ;2020 (Feb 6) ;138:104794.

Fragile X Syndrome (FXS) is a leading known genetic cause of intellectual disability with symptoms that include increased anxiety and social and sensory processing deficits. Recent EEG studies in humans with FXS have identified neural oscillation deficits that include increased resting state gamma power, increased amplitude of auditory evoked potentials, and reduced inter-trial phase coherence of sound-evoked gamma oscillations. Identification of comparable EEG biomarkers in mouse models of FXS could facilitate the pre-clinical to clinical therapeutic pipeline. However, while human EEG studies have involved 128-channel scalp EEG acquisition, no mouse studies have been performed with more than three EEG channels. In the current study, we employed a recently developed 30-channel mouse multielectrode array (MEA) system to record and analyze resting and stimulus-evoked EEG signals in WT vs. Fmr1 KO mice. Using this system, we now report robust MEA-derived phenotypes including higher resting EEG power, altered event-related potentials (ERPs) and reduced inter-trial phase coherence to auditory chirp stimuli in Fmr1 KO mice that are remarkably similar to those reported in humans with FXS. We propose that the MEA system can be used for : (i) derivation of higher-level EEG parameters ; (ii) EEG biomarkers for drug testing ; and (ii) mechanistic studies of FXS pathophysiology.

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4. Kent C, Cordier R, Joosten A, Wilkes-Gillan S, Bundy A. Can We Play Together ? A Closer Look at the Peers of a Peer-Mediated Intervention to Improve Play in Children with Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Feb 10)

Peer-mediated interventions (PMIs) are often used to support children with autism spectrum disorder (ASD) to develop social skills. However, more investigation is needed to better understand the role of peers as both intervention recipients and models. Sixty-five typically developing peers who participated in a PMI for children with ASD were investigated using a randomised control trial. Play sessions of the dyads were scored using the Test of Playfulness. Results showed a significant moderate intervention effect for the peers from pre- to post-intervention ; outcomes for children with ASD were not influenced by peer characteristics ; and, the children demonstrated a similar pattern of play interaction. Implications for practice are discussed.Clinical Trials Registry Australian New Zealand Clinical Trials Registry, https://www.anzctr.org.au/ (ACTRN12615000008527 ; Universal Trial Number : U1111-1165-2708).

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5. Koukouriki E, Soulis SG. Self-reported Health-Related Quality of Life (HRQOL) and Anxiety Among Greek School-Age Siblings of Individuals with Autism Spectrum Disorders (ASD) in Relation to Parental Mental Health and Social Support. J Autism Dev Disord ;2020 (Feb 10)

Health-Related Quality of Life (HRQOL) and anxiety were measured in 233 school-age siblings of individuals with Autism Spectrum Disorders (ASD) and siblings of Typically Developing (TD) children in Greece. The aim of the study was to investigate for any association between siblings’ HRQOL or anxiety and parental mental health, perceived social support as well as major demographic factors. It was found that the disability group (ASD-sibs) showed elevated anxiety levels and poorer HRQOL than controls. In hierarchical multiple regression models, the anxiety of ASD-sibs was significantly associated with parental anxiety independent of parental perceived social support and demographic factors, whereas the HRQOL of ASD-sibs was associated with perceived social support independent of parental physical and mental health and demographic factors.

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6. McCullagh EA, Rotschafer SE, Auerbach BD, Klug A, Kaczmarek LK, Cramer KS, Kulesza RJ, Jr., Razak KA, Lovelace JW, Lu Y, Koch U, Wang Y. Mechanisms underlying auditory processing deficits in Fragile X syndrome. Faseb j ;2020 (Feb 10)

Autism spectrum disorders (ASD) are strongly associated with auditory hypersensitivity or hyperacusis (difficulty tolerating sounds). Fragile X syndrome (FXS), the most common monogenetic cause of ASD, has emerged as a powerful gateway for exploring underlying mechanisms of hyperacusis and auditory dysfunction in ASD. This review discusses examples of disruption of the auditory pathways in FXS at molecular, synaptic, and circuit levels in animal models as well as in FXS individuals. These examples highlight the involvement of multiple mechanisms, from aberrant synaptic development and ion channel deregulation of auditory brainstem circuits, to impaired neuronal plasticity and network hyperexcitability in the auditory cortex. Though a relatively new area of research, recent discoveries have increased interest in auditory dysfunction and mechanisms underlying hyperacusis in this disorder. This rapidly growing body of data has yielded novel research directions addressing critical questions regarding the timing and possible outcomes of human therapies for auditory dysfunction in ASD.

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7. Moseley RL, Gregory NJ, Smith P, Allison C, Baron-Cohen S. Links between self-injury and suicidality in autism. Mol Autism ;2020 (Feb 10) ;11(1):14.

BACKGROUND : Autistic individuals without intellectual disability are at heightened risk of self-injury, and appear to engage in it for similar reasons as non-autistic people. A wide divergence of autistic perspectives on self-injury, including those who frame it as a helpful coping mechanism, motivate investigating the link between self-injury, suicide ideation, and attempts which has been reported in typically developing individuals. METHOD : One hundred three autistic participants completed the Non-Suicidal Self-Injury Assessment Tool (NSSI-AT), the Suicide Behaviors Questionnaire (SBQ-R), and the Interpersonal Social Evaluation List (ISEL-12) across two online studies. Logistic regression was conducted to predict self-harming status via responses to questions on suicidality, and to predict whether certain self-injurious behaviors, including cutting, were especially associated with suicide ideation and attempts. Non-parametric correlation analysis examined relationships between suicide ideation/attempts and other variables that might characterize self-harmers especially at risk of suicidality. These included perceived access to social support, purposes or reasons for self-injury, the number of different self-injurious behaviors engaged in, the duration and lifetime incidence of self-injury, and the individual’s feelings about their self-injury. RESULTS : While self-injuring status was significantly predicted by responses to a question on suicide ideation and attempts, there was no relationship between suicide ideation/attempts and a participant’s personal feelings about their self-injury. The method of cutting was also predicted by suicide ideation and attempts, though other methods common in autistic people were at borderline significance. Use of self-injury for the regulation of low-energy emotional states like depression, for self-punishment or deterrence from suicide, and for sensory stimulation, was associated with suicide ideation and attempts, as was the number of self-injurious behaviors engaged in. There was no significant relationship between suicide ideation/attempts and the duration and lifetime incidence of self-injury or social support. CONCLUSIONS : These preliminary data suggest that while individuals might frame their self-injury as a positive or neutral thing, there remains a concerning relationship between self-injury and suicidality which exists regardless of individual feelings on self-injury. This is consistent with the theoretical perspective that self-injury can be a "gateway" through which individuals acquire capability for lethal suicidal behaviors. The data highlight that particular methods (cutting) and reasons for self-injury may be of significant concern, but this information, which might be of extreme value for clinicians, requires further investigation and validation.

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8. Qian M, Chou SY, Lai EK. Confirmatory bias in health decisions : Evidence from the MMR-autism controversy. J Health Econ ;2020 (Feb 10):102284.

Since Wakefield et al. (1998), the public was exposed to mixed information surrounding the claim that measles-mumps-rubella vaccine causes autism. A persistent trend to delay the vaccination during 1998-2011 in the US was driven by children of college-educated mothers, suggesting that these mothers held biases against the vaccine influenced by the early unfounded claim. Consistent with confirmatory bias, exposures to negative information about the vaccine strengthened their biases more than exposures to positive information attenuated them. Positive online information, however, had strong impacts on vaccination decisions, suggesting that online dissemination of vaccine-safety information may help tackle the sticky misinformation.

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9. Schneid I, Raz AE. The mask of autism : Social camouflaging and impression management as coping/normalization from the perspectives of autistic adults. Soc Sci Med ;2020 (Jan 31) ;248:112826.

Autism entails impression management, including social camouflaging, under conditions of conflict and stigma, with reduced ability to perform such social interaction as well as an increased toll that accompanies it. To examine the meanings of impression management and social camouflaging from the point-of-view of autistic people, we conducted a participatory study that included semi-structured interviews with 24 Israeli autistic adults in 2017-2018. We present views on the difference between camouflaging and impression management ; impression management as a social asset ; the ambivalence of camouflaging ; the limits of impression management ; and autistic forms of social communication that provide an alternative to impression management and camouflaging. These perspectives are discussed as leading from prioritizing social integration to prioritizing autistic empowerment. We further explore how the stigma of autism is turned, through camouflaging, into the mask of autism, offering to deconstruct the neurotypical premises of academically-approved concepts of socialization and impression management. Emancipatory participative research thus provides a unique opportunity not only to sociologically explore the deeper contours of "social disability" but also the "disabilities of sociology", offering directions for the neuro-diversification of sociology, in parallel with the recent thrust of building a "sociology of autism".

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10. Sharp WG, Berry RC, Burrell L, Scahill L, McElhanon BO. Scurvy as a Sequela of Avoidant-Restrictive Food Intake Disorder in Autism : A Systematic Review. J Dev Behav Pediatr ;2020 (Feb 10)

OBJECTIVE : To document the clinical presentation of scurvy in children with autism spectrum disorder (ASD) and summarize the contemporary approaches to assessment and management in this population. Scurvy is a disease caused by vitamin C deficiency most often detected in populations at high risk for nutrition insufficiency (e.g., extreme poverty). Children with ASD and severe food selectivity consistent with avoidant-restrictive food intake disorder may also be at risk for scurvy. METHOD : We searched MEDLINE, CINAHL, and PsycINFO databases (1990-2018) in peer-reviewed journals for studies of children with ASD and scurvy. Inclusion criteria required confirmed diagnosis of ASD and scurvy in children (birth to 18 years) with a clear description of restrictive dietary patterns. Cases of scurvy due to other causes were excluded. We used a standardized protocol to independently code information ; agreement between coders was high. RESULTS : The systematic search identified 20 case reports involving 24 children (mean age = 9 +/- 3.5 ; 22 boys/2 girls). The eventual diagnosis of scurvy followed a wide range of negative diagnostic testing ; treatment with ascorbic acid and/or a multivitamin resulted in rapid improvement. CONCLUSIONS : Symptoms of scurvy mimic other pediatric conditions (e.g., cancer). The range of diagnostic testing increased costs and healthcare risks (radiation, sedation) and delayed the diagnosis of scurvy. In children with ASD and severe food selectivity, a nutrition evaluation and laboratory testing are warranted before a more elaborate testing.

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11. Uljarevic M, Cooper MN, Bebbington K, Glasson EJ, Maybery MT, Varcin K, Alvares GA, Wray J, Leekam SR, Whitehouse AJO. Deconstructing the repetitive behaviour phenotype in autism spectrum disorder through a large population-based analysis. J Child Psychol Psychiatry ;2020 (Feb 10)

OBJECTIVE : Restricted and repetitive pattern of behaviours and interests (RRB) are a cardinal feature of autism spectrum disorder (ASD), but there remains uncertainty about how these diverse behaviours vary according to individual characteristics. This study provided the largest exploration to date of the relationship between Repetitive Motor Behaviours, Rigidity/Insistence on Sameness and Circumscribed Interests with other individual characteristics in newly diagnosed individuals with ASD. METHOD : Participants (N = 3,647 ; 17.7% females ; Mage = 6.6 years [SD = 4.7]) were part of the Western Australian (WA) Register for ASD, an independent, prospective collection of demographic and diagnostic data of newly diagnosed cases of ASD in WA. Diagnosticians rated each of the DSM-IV-TR criteria on a 4-point Likert severity scale, and here we focused on the Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests symptoms. RESULTS : The associations between RRB domains, indexed by Kendall’s Tau, were weak, ranging from non-significant for both Circumscribed Interests and Repetitive Motor Behaviours to significant (.20) for Insistence on Sameness and Repetitive Motor Behaviours. Older age at diagnosis was significantly associated with lower Circumscribed Interests and significantly associated with higher Insistence on Sameness and Repetitive Motor Behaviours. Male sex was significantly associated with higher Repetitive Motor Behaviours but not Insistence on Sameness or Circumscribed Interests. CONCLUSIONS : The pattern of associations identified in this study provides suggestive evidence for the distinctiveness of Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests, highlighting the potential utility of RRB domains for stratifying the larger ASD population into smaller, more phenotypically homogeneous subgroups that can help to facilitate efforts to understand diverse ASD aetiology and inform design of future interventions.

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12. Usher LV, DaWalt LS, Hong J, Greenberg JS, Mailick MR. Trajectories of Change in the Behavioral and Health Phenotype of Adolescents and Adults with Fragile X Syndrome and Intellectual Disability : Longitudinal Trends Over a Decade. J Autism Dev Disord ;2020 (Feb 10)

This study examined trajectories of daily living skills, behavior problems, body mass index (BMI), and health conditions spanning nearly a decade in adolescents and adults with fragile X syndrome (N = 134 ; age range at study end = 19-49 years), examining influences of sex and autism spectrum disorder (ASD) symptoms. Hierarchical linear modeling revealed early increases in daily living skills, with decreases at older ages. Behavior problems became less severe over time, with some increases at older ages. Individuals gained weight and had increasing health problems over time. Fewer ASD symptoms were associated with greater daily living skills and fewer behavior problems at study start. This study offers some of the first prospective quantitative analyses of behavioral and health life course trajectories in FXS.

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13. Wainwright BR, Allen ML, Cain K. Symbolic Understanding and Word-Picture-Referent Mapping from iPads in Autism Spectrum Condition : The Roles of Iconicity and Engagement. J Autism Dev Disord ;2020 (Feb 8)

We investigated symbolic understanding, word-picture-referent mapping, and engagement in children with autism spectrum condition (ASC) and ability-matched typically developing children. Participants viewed coloured pictorial symbols of a novel object (given a novel name) on an iPad in one of three conditions : static 2D images and either automatically or manually rotating images (providing a three-dimensional context). We found no significant difference in word-picture-referent mapping between groups and conditions, however, children who manually rotated the picture had greater on-screen looking time compared to other conditions. Greater visual attention related to more successful word-picture-referent mapping only for the children with ASC. Interactive iPad tasks may increase visual attention in both typical and atypical populations and greater visual attention may benefit word-picture-referent mapping in ASC.

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14. Westerveld MF, Paynter J, Brignell A, Reilly S. No Differences in Code-Related Emergent Literacy Skills in Well-Matched 4-Year-Old Children With and Without ASD. J Autism Dev Disord ;2020 (Feb 8)

This study used data from a prospective community-based sample and compared the code-related emergent literacy skills (phonological awareness and letter knowledge) of 4-year-old children with ASD (n = 36) to their peers without ASD (n = 36), matched for age, gender, socio-economic status, language ability, and nonverbal cognition. We also compared groups on parent-reported home literacy measures, including the amount of time their child enjoyed being read to. There were no significant group differences in emergent literacy, indicating that an ASD diagnosis was not related to children’s emergent literacy performance. We found no group differences in parent-reported home literacy experiences. This highlights the need for careful consideration of factors beyond ASD traits that may influence literacy outcomes in this population.

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15. Yan D, Zhao Y, Wang Z, Yin T, Yang S, Tang X, Wang L. [Genetic analysis of a case of mosaic trisomy 21 associated with autism spectrum disorder]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2020 (Feb 10) ;37(2):190-194.

OBJECTIVE : To explore the genetic basis for a child with autism spectrum disorder (ASD) and congenital heart disease. METHODS : G-banded chromosomal karyotyping was carried out for the patient and his parents. The child was also subjected to whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq). The result was validated by chromosomal microarray analysis (CMA). RESULTS : The karyotype of the patient and his parents were normal. No significant genetic variation was found by WES. However, CNV-seq has discovered a 47, XY, +21 [10%]/46,XY [90%] mosaicism in the patient. The result was confirmed by CMA. CONCLUSION : In addition to Down syndrome, low proportion mosaic trisomy 21 is also associated with ASD. WES and CNV-seq can enable accurate diagnosis for patient with unexplained ASD.

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16. Zhang Y, Chen Y, Hu T. PANDA : Prioritization of autism-genes using network-based deep-learning approach. Genet Epidemiol ;2020 (Feb 10)

Understanding the genetic background of complex diseases and disorders plays an essential role in the promising precision medicine. The evaluation of candidate genes, however, requires time-consuming and expensive experiments given a large number of possibilities. Thus, computational methods have seen increasing applications in predicting gene-disease associations. We proposed a bioinformatics framework, Prioritization of Autism-genes using Network-based Deep-learning Approach (PANDA). Our approach aims to identify autism-genes across the human genome based on patterns of gene-gene interactions and topological similarity of genes in the interaction network. PANDA trains a graph deep learning classifier using the input of the human molecular interaction network and predicts and ranks the probability of autism association of every node (gene) in the network. PANDA was able to achieve a high classification accuracy of 89%, outperforming three other commonly used machine learning algorithms. Moreover, the gene prioritization ranking list produced by PANDA was evaluated and validated using an independent large-scale exome-sequencing study. The top 10% of PANDA-ranked genes were found significantly enriched for autism association.

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