Pubmed du 21/03/20

samedi 21 mars 2020

1. Resources for autism spectrum disorder. Nursing. 2020 ; 50(4) : 70.

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2. Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies : A Health Technology Assessment. Ontario health technology assessment series. 2020 ; 20(11) : 1-178.

Background : People with unexplained developmental disabilities or multiple congenital anomalies might have had many biochemical, metabolic, and genetic tests for a period of years without receiving a diagnosis. A genetic diagnosis can help these people and their families better understand their condition and may help them to connect with others who have the same condition. Ontario Health (Quality), in collaboration with the Canadian Agency for Drugs and Technologies in Health (CADTH) conducted a health technology assessment about the use of genome-wide sequencing for patients with unexplained developmental disabilities or multiple congenital anomalies. Ontario Health (Quality) evaluated the effectiveness, cost-effectiveness, and budget impact of publicly funding genome-wide sequencing. We also conducted interviews with patients and examined the quantitative evidence of preferences and values literature to better understand the patient preferences and values for these tests. Methods : Ontario Health (Quality) performed a systematic literature search of the clinical evidence. We assessed the risk of bias of each included study using the Risk of Bias Assessment tool for Non-randomized Studies (RoBANS) and the quality of the body of evidence according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) Working Group criteria. We also performed a search of the quantitative evidence and undertook direct patient engagement to ascertain patient preferences for genetic testing for unexplained developmental disabilities or multiple congenital anomalies. CADTH performed a review of qualitative literature about patient perspectives and experiences, and a review of ethical issues.Ontario Health (Quality) performed an economic literature review of genome-wide sequencing in people with unexplained developmental disabilities or multiple congenital anomalies. Although we found eight published cost-effectiveness studies, none completely addressed our research question. Therefore, we conducted a primary economic evaluation using a discrete event simulation model. Owing to its high cost and early stage of clinical implementation, whole exome sequencing is primarily used for people who do not have a diagnosis from standard testing (referred to here as whole exome sequencing after standard testing ; standard testing includes chromosomal microarray and targeted single-gene tests or gene panels). Therefore, in our first analysis, we evaluated the cost-effectiveness of whole exome sequencing after standard testing versus standard testing alone. In our second analysis, we explored the cost-effectiveness of whole exome and whole genome sequencing used at various times in the diagnostic pathway (e.g., first tier, second tier, after standard testing) versus standard testing. We also estimated the budget impact of publicly funding genome-wide sequencing in Ontario for the next 5 years. Results : Forty-four studies were included in the clinical evidence review. The overall diagnostic yield of genome-wide sequencing for people with unexplained development disability and multiple congenital anomalies was 37%, but we are very uncertain about this estimate (GRADE : Very Low). Compared with standard genetic testing of chromosomal microarray and targeted single-gene tests or gene panels, genome-wide sequencing could have a higher diagnostic yield (GRADE : Low). As well, for some who are tested, genome-wide sequencing prompts some changes to medications, treatments, and referrals to specialists (GRADE : Very Low).Whole exome sequencing after standard testing cost an additional $3,261 per patient but was more effective than standard testing alone. For every 1,000 persons tested, using whole exome sequencing after standard testing would lead to an additional 240 persons with a molecular diagnosis, 272 persons with any positive finding, and 46 persons with active treatment change (modifications to medications, procedures, or treatment). The resulting incremental cost-effectiveness ratios (ICERs) were $13,591 per additional molecular diagnosis. The use of genome-wide sequencing early in the diagnostic pathway (e.g., as a first- or second-tier test) can save on costs and improve diagnostic yields over those of standard testing. Results remained robust when parameters and assumptions were varied.Our budget impact analysis showed that, if whole exome sequencing after standard testing continues to be funded through Ontario’s Out-of-Country Prior Approval Program, its budget impact would range from $4 to $5 million in years 1 to 5. If whole exome sequencing becomes publicly funded in Ontario (not through the Out-of-Country Prior Approval Program), the budget impact would be about $9 million yearly. We also found that using whole exome sequencing as a second-tier test would lead to cost savings ($3.4 million per 1,000 persons tested yearly).Participants demonstrated consistent motivations for and expectations of obtaining a diagnosis for unexplained developmental delay or congenital anomalies through genome-wide sequencing. Patients and families greatly value the support and information they receive through genetic counselling when considering genome-wide sequencing and learning of a diagnosis. Conclusions : Genome-wide sequencing could have a higher diagnostic yield than standard testing for people with unexplained developmental disabilities or multiple congenital anomalies. Genome-wide sequencing can also prompt some changes to medications, treatments, and referrals to specialists for some people tested ; however, we are very uncertain about this. Genome-wide sequencing could be a cost-effective strategy when used after standard testing to diagnose people with unexplained developmental disabilities or multiple congenital anomalies. It could also lead to cost savings when used earlier in the diagnostic pathway. Patients and families consistently noted a benefit from seeking a diagnosis through genetic testing.

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3. Abbas H, Garberson F, Liu-Mayo S, Glover E, Wall DP. Multi-modular AI Approach to Streamline Autism Diagnosis in Young Children. Sci Rep. 2020 ; 10(1) : 5014.

Autism has become a pressing healthcare challenge. The instruments used to aid diagnosis are time and labor expensive and require trained clinicians to administer, leading to long wait times for at-risk children. We present a multi-modular, machine learning-based assessment of autism comprising three complementary modules for a unified outcome of diagnostic-grade reliability : A 4-minute, parent-report questionnaire delivered via a mobile app, a list of key behaviors identified from 2-minute, semi-structured home videos of children, and a 2-minute questionnaire presented to the clinician at the time of clinical assessment. We demonstrate the assessment reliability in a blinded, multi-site clinical study on children 18-72 months of age (n = 375) in the United States. It outperforms baseline screeners administered to children by 0.35 (90% CI : 0.26 to 0.43) in AUC and 0.69 (90% CI : 0.58 to 0.81) in specificity when operating at 90% sensitivity. Compared to the baseline screeners evaluated on children less than 48 months of age, our assessment outperforms the most accurate by 0.18 (90% CI : 0.08 to 0.29 at 90%) in AUC and 0.30 (90% CI : 0.11 to 0.50) in specificity when operating at 90% sensitivity.

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4. Drogomyretska K, Fox R, Colbert D. Brief Report : Stress and Perceived Social Support in Parents of Children with ASD. J Autism Dev Disord. 2020.

Previous literature has indicated that perceptions of social support (PSS) may be an important predictor of parental stress levels, particularly for parents of children diagnosed with autism spectrum disorders (ASD). The current study implemented structural equation modelling to further investigate the relationship between PSS and parental stress in a sample of 454 parents of children diagnosed with ASD. Results indicate that PSS derived from friends was the most important factor in protecting against stress, with PSS from both a significant other and family appearing to be less pervasive in this regard. In addition, the importance of PSS was further underlined by the finding that it remained a significant predictor of parental stress after controlling for the absence/presence of professional support.

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5. 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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6. Holden R, Mueller J, McGowan J, Sanyal J, Kikoler M, Simonoff E, Velupillai S, Downs J. Investigating Bullying as a Predictor of Suicidality in a Clinical Sample of Adolescents with Autism Spectrum Disorder. Autism Res. 2020.

For typically developing adolescents, being bullied is associated with increased risk of suicidality. Although adolescents with autism spectrum disorder (ASD) are at increased risk of both bullying and suicidality, there is very little research that examines the extent to which an experience of being bullied may increase suicidality within this specific population. To address this, we conducted a retrospective cohort study to investigate the longitudinal association between experiencing bullying and suicidality in a clinical population of 680 adolescents with ASD. Electronic health records of adolescents (13-17 years), using mental health services in South London, with a diagnosis of ASD were analyzed. Natural language processing was employed to identify mentions of bullying and suicidality in the free text fields of adolescents’ clinical records. Cox regression analysis was employed to investigate the longitudinal relationship between bullying and suicidality outcomes. Reported experience of bullying in the first month of clinical contact was associated with an increased risk suicidality over the follow-up period (hazard ratio = 1.82 ; 95% confidence interval = 1.28-2.59). In addition, female gender, psychosis, affective disorder diagnoses, and higher intellectual ability were all associated with suicidality at follow-up. This study is the first to demonstrate the strength of longitudinal associations between bullying and suicidality in a clinical population of adolescents with ASD, using automated approaches to detect key life events within clinical records. Our findings provide support for identifying and dealing with bullying in schools, and for antibullying strategy’s incorporation into wider suicide prevention programs for young people with ASD. Autism Res 2020. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : We investigated the relationship between bullying and suicidality in young people with autism spectrum disorder (ASD). We examined the clinical records of adolescents (aged 13-18 years old) with ASD in South London who were receiving treatment from Child and Adolescent Mental Health Services. We found that if they reported being bullied in the first month after they were first seen by mental health services, they were nearly twice as likely to go on to develop suicidal thoughts or behaviors.

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7. Huang J, Du C, Liu J, Tan G. Meta-Analysis on Intervention Effects of Physical Activities on Children and Adolescents with Autism. Int J Environ Res Public Health. 2020 ; 17(6).

This paper aimed to discuss the intervention effects of physical activities on children and adolescents with autism with a meta-analysis so as to serve as a reference to further relevant research on the same topic. As for research methods, by searching in CNKI (China National Knowledge Infrastructure), WanFang data, VIP Database for Chinese Technical Periodicals, PubMed, Scopus, Web of Science, and other databases, this study collected randomized controlled trials (RCTs) on the intervention of physical activities on children and adolescents with autism and used Review Manager 5.3 software to process and analyze the outcome indicators of the literature. As for the result, a total of 12 papers and 492 research targets were selected. The results of the meta-analysis show that physical activity had a significant positive impact on social interaction ability, communication ability, motor skills, and autism degree of autistic children as well as the social skills and communication skills of autistic adolescents. On the other hand, physical activity had no significant effect on the stereotyped behavior of autistic children and adolescents. In conclusion, physical activity intervention is beneficial to children and adolescents with autism, and continuous physical activity intervention can produce greater intervention effect.

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8. Iglesias-Vazquez L, Van Ginkel Riba G, Arija V, Canals J. Composition of Gut Microbiota in Children with Autism Spectrum Disorder : A Systematic Review and Meta-Analysis. Nutrients. 2020 ; 12(3).

BACKGROUND : Autism spectrum disorder (ASD) is a public health problem and has a prevalence of 0.6%-1.7% in children. As well as psychiatric symptoms, dysbiosis and gastrointestinal comorbidities are also frequently reported. The gut-brain microbiota axis suggests that there is a form of communication between microbiota and the brain underlying some neurological disabilities. The aim of this study is to describe and compare the composition of gut microbiota in children with and without ASD. METHODS : Electronic databases were searched as far as February 2020. Meta-analyses were performed using RevMan5.3 to estimate the overall relative abundance of gut bacteria belonging to 8 phyla and 17 genera in children with ASD and controls. RESULTS : We included 18 studies assessing a total of 493 ASD children and 404 controls. The microbiota was mainly composed of the phyla Bacteroidetes, Firmicutes, and Actinobacteria, all of which were more abundant in the ASD children than in the controls. Children with ASD showed a significantly higher abundance of the genera Bacteroides, Parabacteroides, Clostridium, Faecalibacterium, and Phascolarctobacterium and a lower percentage of Coprococcus and Bifidobacterium. DISCUSSION : This meta-analysis suggests that there is a dysbiosis in ASD children which may influence the development and severity of ASD symptomatology. Further studies are required in order to obtain stronger evidence of the effectiveness of pre- or probiotics in reducing autistic behaviors.

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9. Isik U, Cokunlu Y, Simsek F, Demirel B, Kilic F, Demirdas A, Eren I. Autistic Traits in Men With Substance Use Disorder. J Nerv Ment Dis. 2020.

There has been no study in the literature evaluating autistic traits (ATs) in men with substance use disorders (SUDs). Therefore, we performed the current study to evaluate whether there is a relation between the ATs among men with SUDs and normal controls. A total of 142 men with SUDs and 109 age and sex-matched healthy controls were included in the current study. Present attention deficit hyperactivity disorder (ADHD) symptoms of the participants were evaluated using the Adult ADHD Self-Report Scale. The autism spectrum quotient (AQ) was used to evaluate ATs. The current study found that higher AQ imagination and lower AQ attention to detail scores predicted SUDs after controlling for AQ subscales and present ADHD symptoms. This study shows that ATs may be engaged in the development of SUDs. To explore the connection between ATs and SUDs, more research is needed.

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10. Maye M, Sanchez VE, Stone-MacDonald A, Carter AS. Early Interventionists’ Appraisals of Intervention Strategies for Toddlers with Autism Spectrum Disorder and Their Peers in Inclusive Childcare Classrooms. J Autism Dev Disord. 2020.

Mounting evidence supports several naturalistic developmental behavioral interventions (NDBI) for toddlers and preschoolers within inclusive childcare centers and preschools. However, these interventions pose many barriers to community implementation. As part of a larger project to create an adapted NDBI for early educators in childcare centers, we surveyed 101 early interventionists who had worked with a toddler with autism within the last 12 months. Early interventionists rated 22-of-31 NDBI strategies to be significantly more effective for All Toddlers versus Toddlers with Autism. However, when comparing the top 10 rated strategies between groups, there was a large degree of overlap. Moreover, many of these highly rated NDBI strategies are consistent with best practice accreditation and early education standards within the United States.

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11. Nevison C, Parker W. California Autism Prevalence by County and Race/Ethnicity : Declining Trends Among Wealthy Whites. J Autism Dev Disord. 2020.

County-level ASD prevalence was estimated using an age-resolved snapshot from the California Department of Developmental Services (DDS) for birth years 1993-2013. ASD prevalence increased among all children across birth years 1993-2000 but plateaued or declined thereafter among whites from wealthy counties. In contrast, ASD rates increased continuously across 1993-2013 among whites from lower income counties and Hispanics from all counties. Both white ASD prevalence and rate of change in prevalence were inversely correlated to county income from birth year 2000-2013 but not 1993-2000. These disparate trends within the dataset suggest that wealthy white parents, starting around 2000, may have begun opting out of DDS in favor of private care and/or making changes that effectively lowered their children’s risk of ASD.

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12. Tran KT, Le VS, Bui HTP, Do DH, Ly HTT, Nguyen HT, Dao LTM, Nguyen TH, Vu DM, Ha LT, Le HTT, Mukhopadhyay A, Nguyen LT. Genetic landscape of autism spectrum disorder in Vietnamese children. Sci Rep. 2020 ; 10(1) : 5034.

Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited. Here, we first conducted whole exome sequencing (WES) of 100 children with ASD and their unaffected parents. Our stringent analysis pipeline was able to detect 18 unique variants (8 de novo and 10 x-linked, all validated), including 12 newly discovered variants. Interestingly, a notable number of X-linked variants were detected (56%), and all of them were found in affected males but not in affected females. We uncovered 17 genes from our ASD cohort in which CHD8, DYRK1A, GRIN2B, SCN2A, OFD1 and MDB5 have been previously identified as ASD risk genes, suggesting the universal aetiology of ASD for these genes. In addition, we identified six genes that have not been previously reported in any autism database : CHM, ENPP1, IGF1, LAS1L, SYP and TBX22. Gene ontology and phenotype-genotype analysis suggested that variants in IGF1, SYP and LAS1L could plausibly confer risk for ASD. Taken together, this study adds to the genetic heterogeneity of ASD and is the first report elucidating the genetic landscape of ASD in Vietnamese children.

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13. Yoshizaki K, Asai M, Nakayama A. Impaired social facilitation on voluntary exercise of BALB/cCrSlc mice, a proposed as an autism spectrum disorder model. Neurosci Res. 2020.

Impaired social facilitation was reported in autism spectrum disorder (ASD) children. However, behavioral analysis methods of social facilitation for ASD model have not been reported. We developed a novel breeding home cage for social facilitation. Voluntary exercise of more social C57BL/6 J mice was significantly increased in the presence of observer mouse compared to that in the absence of observer mouse. In contrast, the presence of observer mouse did not affect voluntary exercise of less social BALB/cCrSlc mice. These suggest that BALB/cCrSlc mice, a mouse model of ASD, exhibited impaired social facilitation. Our method would provide novel clues for ASD pathophysiology.

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14. Zhang Z, Peng P, Zhang D. Executive Function in High-Functioning Autism Spectrum Disorder : A Meta-analysis of fMRI Studies. J Autism Dev Disord. 2020.

Abnormalities in executive function (EF) are clinical markers for autism spectrum disorder (ASD). However, the neural mechanisms underlying abnormal EF in ASD remain unclear. This meta-analysis investigated the construct, abnormalities, and age-related changes of EF in ASD. Thirty-three fMRI studies of inhibition, updating, and switching in individuals with high-functioning ASD were included (n = 1114 ; age range 7-57 years). The results revealed that the EF construct in ASD could be unitary (i.e., common EF) in children/adolescents, but unitary and diverse (i.e., common EF and inhibition) in adults. Abnormalities in this EF construct were found across development in individuals with ASD in comparison with typically developing individuals. Implications and recommendations are discussed for EF theory and for practice in ASD.

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