Pubmed du 20/03/20

vendredi 20 mars 2020

1. Baksh RA, Abrahams S, Bertlich M, Cameron R, Jany S, Dorrian T, Baron-Cohen S, Allison C, Smith P, MacPherson SE, Auyeung B. Social cognition in adults with autism spectrum disorders : Validation of the Edinburgh Social Cognition Test (ESCoT). The Clinical neuropsychologist. 2020 : 1-19.

Objective : Many existing tests of social cognition are not appropriate for clinical use, due to their length, complexity or uncertainty in what they are assessing. The Edinburgh Social Cognition Test (ESCoT) is a new test of social cognition that assesses affective and cognitive Theory of Mind as well as inter- and intrapersonal understanding of social norms using animated interactions.Method : To support the development of the ESCoT as a clinical tool, we derived cut-off scores from a neurotypical population (n = 236) and sought to validate the ESCoT in a sample of Autism Spectrum Disorder (ASD ; n = 19) adults and neurotypical controls (NC ; n = 38) matched on age and education. The ESCoT was administered alongside established tests and questionnaire measures of ASD, empathy, systemizing traits and intelligence.Results : Performance on the subtests of the ESCoT and ESCoT total scores correlated with performance on traditional tests, demonstrating convergent validity. ASD adults performed poorer on all measures of social cognition. Unlike the ESCoT, performance on the established tests was predicted by verbal comprehension abilities. Using a ROC curve analysis, we showed that the ESCoT was more effective than existing tests at differentiating ASD adults from NC. Furthermore, a total of 42.11% of ASD adults were impaired on the ESCoT compared to 0% of NC adults.Conclusions : Overall these results demonstrate that the ESCoT is a useful test for clinical assessment and can aid in the detection of potential difficulties in ToM and social norm understanding.

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2. Desaunay P, Briant AR, Bowler DM, Ring M, Gerardin P, Baleyte JM, Guenole F, Eustache F, Parienti JJ, Guillery-Girard B. Memory in autism spectrum disorder : A meta-analysis of experimental studies. Psychological bulletin. 2020.

To address inconsistencies in the literature on memory in autism spectrum disorder (ASD), we report the first ever meta-analysis of short-term memory (STM) and episodic long-term memory (LTM) in ASD, evaluating the effects of type of material, type of retrieval and the role of interitem relations. Analysis of 64 studies comparing individuals with ASD and typical development (TD) showed greater difficulties in ASD compared with TD individuals in STM (Hedges’ g = -0.53, 95% CI [-0.90, -0.16], p = .005, I(2) = 96%) compared with LTM (g = -0.30, 95% CI [-0.42, -0.17], p < .00001, I(2) = 24%), a small difficulty in verbal LTM (g = -0.21, p = .01), contrasting with a medium difficulty for visual LTM (g = -0.41, p = .0002) in ASD compared with TD individuals. We also found a general diminution in free recall compared with cued recall and recognition (LTM, free recall : g = -0.38, p < .00001, cued recall : g = -0.08, p = .58, recognition : g = -0.15, p = .16 ; STM, free recall : g = -0.59, p = .004, recognition : g = -0.33, p = .07). We discuss these results in terms of their relation to semantic memory. The limited diminution in verbal LTM and preserved overall recognition and cued recall (supported retrieval) may result from a greater overlap of these tasks with semantic long-term representations which are overall preserved in ASD. By contrast, difficulties in STM or free recall may result from less overlap with the semantic system or may involve additional cognitive operations and executive demands. These findings highlight the need to support STM functioning in ASD and acknowledge the potential benefit of using verbal materials at encoding and broader forms of memory support at retrieval to enhance performance. (PsycINFO Database Record (c) 2020 APA, all rights reserved).

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3. Ehlen F, Roepke S, Klostermann F, Baskow I, Geise P, Belica C, Tiedt HO, Behnia B. Small Semantic Networks in Individuals with Autism Spectrum Disorder Without Intellectual Impairment : A Verbal Fluency Approach. J Autism Dev Disord. 2020.

Individuals with Autism Spectrum Disorder (ASD) experience a variety of symptoms sometimes including atypicalities in language use. The study explored differences in semantic network organisation of adults with ASD without intellectual impairment. We assessed clusters and switches in verbal fluency tasks (’animals’, ’human feature’, ’verbs’, ’r-words’) via curve fitting in combination with corpus-driven analysis of semantic relatedness and evaluated socio-emotional and motor action related content. Compared to participants without ASD (n = 39), participants with ASD (n = 32) tended to produce smaller clusters, longer switches, and fewer words in semantic conditions (no p values survived Bonferroni-correction), whereas relatedness and content were similar. In ASD, semantic networks underlying cluster formation appeared comparably small without affecting strength of associations or content.

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4. Ellis K, Lewington P, Powis L, Oliver C, Waite J, Heald M, Apperly I, Sandhu P, Crawford H. Scaling of Early Social Cognitive Skills in Typically Developing Infants and Children with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

We delineate the sequence that typically developing infants pass tasks that assess different early social cognitive skills considered precursors to theory-of-mind abilities. We compared this normative sequence to performance on these tasks in a group of autistic (AUT) children. 86 infants were administered seven tasks assessing intention reading and shared intentionality (Study 1). Infants responses followed a consistent developmental sequence, forming a four-stage scale. These tasks were administered to 21 AUT children (Study 2), who passed tasks in the same sequence. However, performance on tasks that required following others’ eye gaze and cooperating with others was delayed. Findings indicate that earlier-developing skills provide a foundation for later-developing skills, and difficulties in acquiring some early social cognitive skills in AUT children.

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5. Ellis K, Oliver C, Stefanidou C, Apperly I, Moss J. An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes. J Autism Dev Disord. 2020.

We directly assessed the broader aspects of sociability (social enjoyment, social motivation, social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and their association with autism characteristics and chronological age in these groups. Individuals with FXS (p < 0.01) and RTS (p < 0.01) showed poorer quality of eye contact compared to individuals with CdLS. Individuals with FXS showed less person and more object attention than individuals with CdLS (p < 0.01). Associations between sociability and autism characteristics and chronological age differed between groups, which may indicate divergence in the development and aetiology of different components of sociability across these groups. Findings indicate that individuals with CdLS, FXS and RTS show unique profiles of sociability.

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6. Fu XG, Yan AZ, Xu YJ, Liao J, Guo XY, Zhang D, Yang WJ, Zheng DZ, Lan FH. Splicing of exon 9a in FMR1 transcripts results in a truncated FMRP with altered subcellular distribution. Gene. 2020 ; 731 : 144359.

FMRP is an RNA-binding protein, loss of which causes fragile X syndrome (FXS). FMRP has several isoforms resulted from alternative splicing (AS) of fragile X mental retardation 1 (FMR1) gene, but their biological functions are still poorly understood. In the analysis of alternatively spliced FMR1 transcripts in the blood cells from a patient with FXS-like phenotypes (normal CGG repeats and no mutation in coding sequence of FMR1), we identified three novel FMR1 transcripts that include a previously unidentified microexon (46 bp), terming the exon 9a. This microexon exists widely in unaffected individuals, inclusion of which introduces an in-frame termination codon. To address whether these exon 9a-containing transcripts could produce protein by evading nonsense-mediated decay (NMD), Western blot was used to analysis blood cell lysate from unaffected individuals and a 34 kDa protein that consistent in size with the molecular weight of the predicted truncated protein produced from mRNA with this microexon was found. Meanwhile, treatment of peripheral blood mononuclear cells with an inhibitor of NMD (Cycloheximide) did not result in significant increase in exon 9a-containing transcripts. Using confocal immunofluorescence, we found the truncated protein displayed both nuclear and cytoplasmic localization in HEK293T and HeLa cells due to lacking C-terminal domains including KH2, NES, and RGG, while the full-length FMRP protein mainly localized in the cytoplasm. Therefore, we hypothesize that the inclusion of this microexon to generate exon 9a-containing transcripts may regulate the normal functionality of FMRP, and the dysregulation of normal FMRP due to increased exon 9a-containing alternatively spliced transcripts in that patient may be associated with the manifestation of FXS phenotype.

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7. Galizio A, Higbee TS, Odum AL. Choice for reinforced behavioral variability in children with autism spectrum disorder. Journal of the experimental analysis of behavior. 2020.

Although individuals with autism spectrum disorder (ASD) tend to behave repetitively, certain reinforcement contingencies (e.g., lag schedules) can be used to increase behavioral variability. In a lag schedule, reinforcers only follow responses that differ from recent responses. The present study was designed to promote variable play behavior in preschoolers with ASD interacting with playsets and figurines and to assess preference for variability and repetition contingencies. Data have shown a preference for variability in pigeons and college students, but this effect has not been explored in clinical populations. In this experiment, preschoolers with ASD were taught to discriminate between variability and repetition contingencies. Only play behaviors that met a lag schedule were reinforced in the presence of one color, and only repetitive behaviors were reinforced in the presence of another. After differential performance was established, participants experienced a concurrent chains schedule. Participants chose between the colors taught in training and then completed a play session with the selected contingency. One participant selected variability and repetition equally. The other participants showed a slight preference for variability. These results indicate that some individuals with ASD may play repetitively, not because they prefer repetition, but because they require additional teaching to play variably.

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8. Haidar Z, Jalkh N, Corbani S, Abou-Ghoch J, Fawaz A, Mehawej C, Chouery E. A Homozygous Splicing Mutation in PDE2A in a Family with Atypical Rett Syndrome. Movement disorders : official journal of the Movement Disorder Society. 2020.

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9. Jain A, Ahmed N, Mahour P, Agarwal V, Chandra K, Shrivatav NK. Burden of care perceived by the principal caregivers of autistic children and adolescents visiting health facilities in Lucknow City. Indian journal of public health. 2019 ; 63(4) : 282-7.

Background : Autism is extraordinarily difficult for families to cope with for various reasons. Perceived burden and care for the child with autism, available forms of social support, and the interactions between the autistic child and other family members are areas of significant concern for families. Objective : The objective of this study was to determine the burden of care perceived by the principal caregivers of autistic children or adolescent visiting health facilities in Lucknow city. Methods : The cross-sectional study was conducted from October 2016 to September 2017 with a sample of 90 principal caregivers (aged <60 years) of autistic children and adolescents aged 3-19 years and diagnosed with autism, attending government and private health facilities providing treatment for autism in Lucknow, Uttar Pradesh, India. Validated tools were used to assess the burden of care and disability level of autistic children. Data were analyzed using the software SPSS version 16. Results : The caregivers of autistic children and adolescents perceived the burden of care in different domains in varying extent with "caregiver’s routine" and "taking responsibility" domains affected the most. The burden perceived was found to be affected by the permanent residence of caregiver, rural/urban dwelling, type of family, socioeconomic status, age at which diagnosis was made, knowledge about autism and the severity of autism. Conclusions : Availability and easy accessibility of autism treatment facilities must be the most probable reason for less burden perceived in three domains, by caregivers of urban settings and those belonging to Lucknow. Furthermore, better knowledge on autism and family and friends’ support led to decrease in the burden perceived by the caregivers in various domains. Thus, it was found that the burden perceived can be reduced by universal availability of evidence-based early diagnosis and treatment of autism and improving the knowledge of caregivers about autism.

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10. Kawada K, Kuramoto N, Mimori S. Possibility that the Onset of Autism Spectrum Disorder is Induced by Failure of the Glutamine-Glutamate Cycle. Current molecular pharmacology. 2020.

Autism spectrum disorder (ASD) is a neurodevelopmental disease, and the number of patients has increased rapidly in recent years. The causes of ASD involve both genetic and environmental factors, but the details of causation have not yet been fully elucidated. Many reports have investigated genetic factors related to synapse formation, and alcohol and tobacco have been reported as environmental factors. This review focuses on endoplasmic reticulum stress and amino acid cycle abnormalities (particularly glutamine and glutamate) induced by many environmental factors. In the ASD model, since endoplasmic reticulum stress is high in the brain from before birth, it is clear that endoplasmic reticulum stress is involved in the development of ASD. On the other hand, one report states that excessive excitation of neurons is caused by the onset of ASD. The glutamine-glutamate cycle is performed between neurons and glial cells and controls the concentration of glutamate and GABA in the brain. These neurotransmitters are also known to control synapse formation and are important in constructing neural circuits. Theanine is a derivative of glutamine and a natural component of green tea. Theanine inhibits glutamine uptake in the glutamine-glutamate cycle via slc38a1 without affecting glutamate ; therefore, we believe that theanine may prevent the onset of ASD by changing the balance of glutamine and glutamate in the brain.

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11. Kupper C, Stroth S, Wolff N, Hauck F, Kliewer N, Schad-Hansjosten T, Kamp-Becker I, Poustka L, Roessner V, Schultebraucks K, Roepke S. Identifying predictive features of autism spectrum disorders in a clinical sample of adolescents and adults using machine learning. Sci Rep. 2020 ; 10(1) : 4805.

Diagnosing autism spectrum disorders (ASD) is a complicated, time-consuming process which is particularly challenging in older individuals. One of the most widely used behavioral diagnostic tools is the Autism Diagnostic Observation Schedule (ADOS). Previous work using machine learning techniques suggested that ASD detection in children can be achieved with substantially fewer items than the original ADOS. Here, we expand on this work with a specific focus on adolescents and adults as assessed with the ADOS Module 4. We used a machine learning algorithm (support vector machine) to examine whether ASD detection can be improved by identifying a subset of behavioral features from the ADOS Module 4 in a routine clinical sample of N = 673 high-functioning adolescents and adults with ASD (n = 385) and individuals with suspected ASD but other best-estimate or no psychiatric diagnoses (n = 288). We identified reduced subsets of 5 behavioral features for the whole sample as well as age subgroups (adolescents vs. adults) that showed good specificity and sensitivity and reached performance close to that of the existing ADOS algorithm and the full ADOS, with no significant differences in overall performance. These results may help to improve the complicated diagnostic process of ASD by encouraging future efforts to develop novel diagnostic instruments for ASD detection based on the identified constructs as well as aiding clinicians in the difficult question of differential diagnosis.

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12. Lee CE, Burke MM, Arnold CK, Owen A. Compound sibling caregivers of individuals with intellectual and developmental disabilities. J Appl Res Intellect Disabil. 2020.

BACKGROUND : Given the increasing lifespans of individuals with intellectual and developmental disabilities (IDD), siblings may fulfil multiple caregiving roles simultaneously for their ageing parents, their offspring, and their brother or sister with IDD. Yet, little is known about compound sibling caregivers. The purpose of this study was to compare the perspectives of compound, single and non-caregiving siblings of adults with IDD. METHOD : This study investigated 332 adult siblings of individuals with IDD in the United States via a national web-based survey. Participants included : 152 non-caregivers, 94 single caregivers (i.e., caregivers only for their brothers and sisters with IDD), and 86 compound caregivers (i.e., caregivers for their brothers and sisters with IDD and at least one other vulnerable individual). RESULTS : Single and compound sibling caregivers (versus non-caregivers) had more positive relationships and conducted greater advocacy and future planning activities. CONCLUSIONS : Given the potential for compound sibling caregiving, further investigation is warranted.

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13. Mossler K, Schmid W, Assmus J, Fusar-Poli L, Gold C. Attunement in Music Therapy for Young Children with Autism : Revisiting Qualities of Relationship as Mechanisms of Change. J Autism Dev Disord. 2020.

This study examined whether musical and emotional attunement predicts changes in improvisational music therapy with children with autism (4-7 years, N = 101, majority : no/limited speech, low IQ), assessed over 12 months. Attunement, as observed from session videos, and changes in generalized social skills, judged by blinded assessors and parents, were evaluated using standardized tools (Assessment of the Quality of Relationship, Improvisational Music Therapy Principles, ADOS, SRS). In contrast to the smaller pilot, we did not find significant effects between attunement and changes in outcomes, only tendencies in the same direction are observed. Findings suggest that symptom severity is associated with the therapist’s ability to attune to the child. They further raise questions concerning outcome selection and user involvement.

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14. Procyshyn TL, Lombardo MV, Lai MC, Auyeung B, Crockford SK, Deakin J, Soubramanian S, Sule A, Baron-Cohen S, Bethlehem RAI. Effects of oxytocin administration on salivary sex hormone levels in autistic and neurotypical women. Mol Autism. 2020 ; 11(1) : 20.

BACKGROUND : Oxytocin administration, which may be of therapeutic value for individuals with social difficulties, is likely to affect endogenous levels of other socially relevant hormones. However, to date, the effects of oxytocin administration on endogenous hormones have only been examined in neurotypical individuals. The need to consider multi-hormone interactions is particularly warranted in oxytocin trials for autism due to evidence of irregularities in both oxytocin and sex steroid systems. METHODS : In this double-blind cross-over study, saliva samples were collected from 16 autistic and 29 neurotypical women before and after intranasal administration of 24 IU oxytocin or placebo. Oestradiol, testosterone, and oxytocin levels were quantified in saliva samples. Participants also completed the Autism-Spectrum Quotient (AQ) and Empathy Quotient (EQ) questionnaires. RESULTS : Distinct patterns of change in testosterone and oestradiol levels pre- to-post-administration were observed in autistic relative to neurotypical women (ANCOVA, p < 0.05 main effect of Group), controlling for sample collection time. The mean percent change oestradiol was + 8.8% for the autism group and - 13.0% for the neurotypical group (t = 1.81, p = 0.08), while the mean percent change testosterone was + 1.1% in the autism group and - 12.6% in the neurotypical group (t = 1.26, p = 0.22). In the oxytocin condition, the mean percent change oestradiol was + 12.6% in the autism group and - 6.9% in the neurotypical group (t = 1.78, p = 0.08), while the mean percent change testosterone was + 14.4% in the autism group and - 15.2% in the neurotypical group (t = 3.00, p = 0.006). Robust regression confirmed that group differences in percent change hormone levels were not driven by a small number of influential individuals. Baseline hormone levels did not differ between groups when considered individually. However, baseline testosterone relative to oestradiol (T:E2 ratio) was higher in autistic women (p = 0.023, Cohen’s d = 0.63), and this ratio correlated positively and negatively with AQ and EQ scores, respectively, in the combined sample. LIMITATIONS : Further studies with larger and more diverse autistic sample are warranted to confirm these effects. CONCLUSIONS : This study provides the first evidence that oxytocin influences endogenous testosterone levels in autistic individuals, with autistic women showing increases similar to previous reports of neurotypical men. These findings highlight the need to consider sex steroid hormones as a variable in future oxytocin trials.

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15. Smith IC, White SW. Socio-emotional determinants of depressive symptoms in adolescents and adults with autism spectrum disorder : A systematic review. Autism. 2020 : 1362361320908101.

LAY ABSTRACT : Many adolescents and adults with autism spectrum disorder experience difficulty with symptoms of depression. These symptoms can contribute to poor quality of life and lack of independence for adolescents and adults. To better understand these symptoms, we conducted a review of articles that examined the presentation of depression specific to autism spectrum disorder. Our goals in conducting this study were (1) to examine whether depression may be associated with symptoms that are common among people with autism spectrum disorder, such as loneliness or poor social motivation ; (2) to determine whether people with autism spectrum disorder experience depression in a different way than the general population ; and (3) to add to other recent studies that have examined how common depression is in autism spectrum disorder and how it is typically measured. Our study reviewed 48 papers on this topic. Results showed that a substantial proportion of people with autism spectrum disorder experience significant symptoms of depression. We related our results to social factors commonly studied in this field (i.e. social motivation) and proposed a new model for the development of depression in this population.

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16. Wingfield B, Miller S, Yogarajah P, Kerr D, Gardiner B, Seneviratne S, Samarasinghe P, Coleman S. A predictive model for paediatric autism screening. Health informatics journal. 2020 : 1460458219887823.

Autism spectrum disorder is an umbrella term for a group of neurodevelopmental disorders that is associated with impairments to social interaction, communication, and behaviour. Typically, autism spectrum disorder is first detected with a screening tool (e.g. modified checklist for autism in toddlers). However, the interpretation of autism spectrum disorder behavioural symptoms varies across cultures : the sensitivity of modified checklist for autism in toddlers is as low as 25 per cent in Sri Lanka. A culturally sensitive screening tool called pictorial autism assessment schedule has overcome this problem. Low- and middle-income countries have a shortage of mental health specialists, which is a key barrier for obtaining an early autism spectrum disorder diagnosis. Early identification of autism spectrum disorder enables intervention before atypical patterns of behaviour and brain function become established. This article proposes a culturally sensitive autism spectrum disorder screening mobile application. The proposed application embeds an intelligent machine learning model and uses a clinically validated symptom checklist to monitor and detect autism spectrum disorder in low- and middle-income countries for the first time. Machine learning models were trained on clinical pictorial autism assessment schedule data and their predictive performance was evaluated, which demonstrated that the random forest was the optimal classifier (area under the receiver operating characteristic (0.98)) for embedding into the mobile screening tool. In addition, feature selection demonstrated that many pictorial autism assessment schedule questions are redundant and can be removed to optimise the screening process.

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