Pubmed du 02/10/19

mercredi 2 octobre 2019

1. Alanzi T, Alhashem A, Dagriri K, Alzahrani F, Alkuraya FS. A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis. Eur J Hum Genet ;2019 (Sep 30)

Congenital heart disease (CHD) is the most common type of birth defects with family- and population-based studies supporting a strong hereditary component. Multifactorial inheritance is the rule although a growing number of Mendelian forms have been described including candidates that have yet to be confirmed independently. TLL1 is one such candidate that was proposed in the etiology of atrial septal defect (ASD). We describe a girl with congenitally corrected transposition of the great arteries (ccTGA) and ASD secundum whose whole-exome sequencing (WES) revealed a de novo splicing (c.1379-2A>G) variant in TLL1 as well as an inherited truncating variant in NODAL. The identification of this dual molecular diagnosis both supports the candidacy of TLL1 in ASD pathogenesis and highlights the power of WES in revealing multilocus cardiac phenotypes.

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2. Crunkhorn S. Reversing Rett syndrome. Nat Rev Drug Discov ;2019 (Sep) ;18(10):748.

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3. Ferguson BJ, Hamlin T, Lantz JF, Villavicencio T, Coles J, Beversdorf DQ. Examining the Association Between Electrodermal Activity and Problem Behavior in Severe Autism Spectrum Disorder : A Feasibility Study. Front Psychiatry ;2019 ;10:654.

Background : Many individuals with autism spectrum disorder (ASD) engage in problem behavior, presenting significant challenges for those providing care and services for this population. Psychophysiological measures of arousal, such as electrodermal activity (EDA), may provide an early indication of subsequent problem behavior. However, variability in EDA patterns associated with behaviors may limit this predictive ability. Methods : EDA data was sampled from eight individuals with severe ASD in a naturalistic setting, while participating in educational programming in a school setting at a residential facility for severely affected individuals with developmental disabilities, to examine variability in EDA patterns. Results : An anticipatory rise in EDA only occurred 60% of the time prior to the problem behavior. Additionally, EDA after a problem behavior returned to median baseline levels only 45% of the time. Conclusions : Heterogeneity of EDA responses in those with the most severe forms of ASD will be an important consideration in future studies utilizing psychophysiological tools such as EDA to anticipate problem behavior, including the need for monitoring of return to baseline after problem behaviors. Incorporation of this consideration may lead to greater reliability of these approaches to help anticipate and manage problem behaviors.

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4. Fewster DL, Govender P, Uys CJ. Quality of life interventions for primary caregivers of children with autism spectrum disorder : a scoping review. J Child Adolesc Ment Health ;2019 (Sep) ;31(2):139-159.

Background : Raising a child with autism spectrum disorder is associated with high levels of stress. Primary caregivers are a group at risk of mental illness and reduced quality of life. Although interventions for the child with autism spectrum disorder exist, there are few or no interventions focusing on the physical, emotional and psychological needs of the primary caregivers. Objectives : The aim of this scoping review paper was to identify and describe quality of life interventions offered to primary caregivers of children with autism spectrum disorder. The content, structure, and mechanism of delivery of these interventions, including their contribution to improving the quality of life of these caregivers, are discussed. Method : A scoping review protocol and methodology was developed and implemented according to a five-step process ; namely, identification of the research question including the PICo, identification of suitable studies using selected search strings, selection of studies using PRISMA guidelines, charting of the results, and collation and summarising of the information. Reviewers where active at various stages to maintain the rigour of the study. Twenty one studies were reviewed and eligible for analysis. Results : The content and trends in structure and mechanism of delivery are described. Three themes emanated from the interventions’ content. The studies were analysed according to quality of life domains addressed in the interventions. Conclusion : The scoping review highlights current practices informing interventions for primary caregivers of children with autism spectrum disorder and may serve as a guide by practitioners and researchers for developing future evidence-based interventions for this population.

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5. Harville T, Rhodes-Clark B, Bennuri SC, Delhey L, Slattery J, Tippett M, Wynne R, Rose S, Kahler S, Frye RE. Inheritance of HLA-Cw7 Associated With Autism Spectrum Disorder (ASD). Front Psychiatry ;2019 ;10:612.

Autism spectrum disorder (ASD) is a behaviorally defined disorder that is now thought to affect approximately 1 in 69 children in the United States. In most cases, the etiology is unknown, but several studies point to the interaction of genetic predisposition with environmental factors. The immune system is thought to have a causative role in ASD, and specific studies have implicated T lymphocytes, monocytes, natural killer (NK) cells, and certain cytokines. The human leukocyte antigen (HLA) system is involved in the underlying process for shaping an individual’s immune system, and specific HLA alleles are associated with specific diseases as risk factors. In this study, we determine whether a specific HLA allele was associated with ASD in a large cohort of patients with ASD. Identifying such an association could help in the identification of immune system components which may have a causative role in specific cohorts of patients with ASD who share similar specific clinical features. Specimens from 143 patients with ASD were analyzed with respect to race and ethnicity. Overall, HLA-Cw7 was present in a much greater frequency than expected in individuals with ASD as compared to the general population. Further, the cohort of patients who express HLA-Cw7 shares specific immune system/inflammatory clinical features including being more likely to have allergies, food intolerances, and chronic sinusitis as compared to those with ASD who did not express HLA-Cw7. HLA-Cw7 has a role in stimulating NK cells. Thus, this finding may indicate that chronic over-activation of NK cells may have a role in the manifestation of ASD in a cohort of patients with increased immune system/inflammatory features.

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6. Jain RA, Prakash A, Medhi B. Newer potential pharmacological targets for autism spectrum disorder. Indian J Pharmacol ;2019 (Jul-Aug) ;51(4):284-286.

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7. Mahendiran T, Dupuis A, Crosbie J, Georgiades S, Kelley E, Liu X, Nicolson R, Schachar R, Anagnostou E, Brian J. Sex Differences in Social Adaptive Function in Autism Spectrum Disorder and Attention-Deficit Hyperactivity Disorder. Front Psychiatry ;2019 ;10:607.

Background : Social-communication difficulties, a hallmark of ASD, autism spectrum disorder (ASD) are often observed in attention - deficit/ hyperactivity disorder (ADHD), although are not part of its diagnostic criteria. Despite sex differences in the prevalence of ASD and ADHD, research examining how sex differences manifest in social and communication functions in these disorders remains limited, and findings are mixed. This study investigated potential sex differences with age in social adaptive function across these disorders, relative to controls. Method : One hundred fifteen youth with ASD, 172 youth with ADHD, and 63 typically developing controls (age range 7-13 years, 75% males) were recruited from the Province of Ontario Neurodevelopmental Disorder (POND) Network. Social adaptive function was assessed using the Adaptive Behavior Assessment System-Second Edition (ABAS-II). The proportions of adaptive behaviors present in each skill area were analyzed as a binomial outcome using logistic regression, controlling for age, and testing for an age-by-sex interaction. In an exploratory analysis, we examined the impact of controlling for core symptom severity on the sex effect. Results : Significant sex-by-age interactions were seen within ASD in the communication (p = 0.005), leisure (p = 0.003), and social skill areas (p < 0.0001). In all three areas, lower scores (indicating poorer function) were found in females compared to males at older ages despite females performing better at younger ages. There were significant differences in the sex-by-age interactions in the social and leisure domains between those with ASD and typically developing controls, with typically developing females showing better scores at older, compared to younger, ages. There were also significant differences in the sex-by-age interactions between ASD and ADHD on the social and leisure domains, as females with ADHD consistently scored higher on social skills than males across all ages, unlike those with ASD. Sex differences across age in the social domains for ADHD were similar to those in the typically developing group. Conclusion : Sex differences in social and communication skill areas were observed between ASD and ADHD, and typically developing controls, with females with ASD performing worse than males at older ages, despite an earlier advantage. These findings reinforce the need to take a developmental approach to understanding sex differences which may have diagnostic, prognostic, and treatment implications.

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8. McDonald TAM. Correction to : Discriminative and Criterion Validity of the Autism Spectrum Identity Scale (ASIS). J Autism Dev Disord ;2019 (Sep 30)

The original version of this article contains an error in Results and Discussion sections and in Table 2. The corrected text and table are given below. Results : Participants’ scores were higher for overall stigma and discrimination than those reported by King et al (2007). The pattern of descriptive statistics for the AAQOL was simialr to that reported by Brod et al. (2006). Discussion : Of note, participants in this study scored approximately 30 points lower than the non-ADHD scores on the AAQOL as reported by Brod and colleagues (2006). The distribution of scores in the current study more closely resembled the distribution of scores by those with ADHD than the non-ADHD control group. This is consistent with the widespread reports of decreased quality of life for adults on the autism spectrum (e.g., Howlin and Moss 2012 ; Taylor & Seltzer 2011). Further, and consistent with reports of increased stigma (e.g., Shtayermnan, 2009 ; Tyman, Salor, Saia, et al. 2010), participants in this study scored approximately 20 points higher for overall stigma, and ten points higher for discrimination, than participants with mental illness as reported by King and colleagues (2007).

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9. Ntalindwa T, Soron TR, Nduwingoma M, Karangwa E, White R. The Use of Information Communication Technologies Among Children With Autism Spectrum Disorders : Descriptive Qualitative Study. JMIR Pediatr Parent ;2019 (Sep 27) ;2(2):e12176.

BACKGROUND : The prevalence of Autism Spectrum Disorder (ASD) appears to be increasing globally due to the complex interaction of multiple biopsychosocial and environmental factors. Mobile phones, tablets, and other electronic gadgets have transformed our means of communication, and have also changed both healthcare and how we learn. These technological enhancements may have a positive impact on the lives of children, but there is currently a global scarcity of information on how information technology influences the education of children with ASD. OBJECTIVE : This study was conducted in Rwandan schools and communities, and aimed to understand the perceptions of students with ASD, their parents, and their teachers, on the use of Information and Communication Technology (ICT) in the education of those with ASD. METHODS : This qualitative descriptive study was conducted from December 2017 to July 2018. Researchers conducted four focus group discussions (FGDs) with 54 participants from different backgrounds : teachers, parents, and students with ASD. Each of the FGDs took approximately two and a half hours. A predefined set of open-ended questions were selected to discover people’s perceptions regarding assistive technologies used in ASD, their effectiveness, the scope of using them in their context, and upcoming challenges during implementation. The interviews were recorded, transcribed, and analyzed. RESULTS : The findings of the study revealed seven key themes : (1) the use of ICT for the education of children with ASD ; (2) existing augmentative facilities for learning ; (3) current patterns of use of ICT in education ; (4) preferred areas of learning for ASD students ; (5) integration of ICT into educational programs ; (6) areas of interest outside the classroom ; and (7) future opportunities and challenges in Rwanda. We found most of the study participants assumed that appropriate technology and related innovations might solve the challenges faced by learners with ASD in classrooms. Moreover, they thought that children with ASD more so enjoyed watching television, playing digital games, and drawing objects using gadgets than interacting with people or playing with other children. CONCLUSIONS : The use of various low-cost technical devices can aid with teaching and the education of children with autism in Rwanda. However, this area requires further research to discover the impact ICT can have on the education of children with ASD, so this study may become a starting point for further research in the area.

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10. Safar K, Yuk V, Wong SM, Leung RC, Anagnostou E, Taylor MJ. Emotional face processing in autism spectrum disorder : Effects in gamma connectivity. Biol Psychol ;2019 (Sep 28):107774.

Impairments in social functioning are characteristic of autism spectrum disorder (ASD). Differences in functional networks during face processing in ASD compared to controls have been reported ; however, the spatial-temporal dynamics of networks underlying affective processing are still not well understood. The current magnetoencephalography study examined whole-brain functional connectivity to implicit happy and angry faces in 104 adults with and without ASD. A network of reduced gamma band (30-55 Hz) phase synchrony occurring 80-308 ms following angry face presentation was found in adults with ASD compared to controls. The network involved widespread connections primarily anchored in frontal regions, including bilateral orbitofrontal areas, bilateral inferior frontal gyri, and left middle frontal gyrus extending to occipital, temporal, parietal, and subcortical regions. This finding suggests disrupted long-range neuronal communication to angry faces. Additionally, reduced gamma band-specific connectivity may reflect altered E/I balance in brain regions critical for emotional face processing in ASD.

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11. Torske T, Naerland T, Bettella F, Bjella T, Malt E, Hoyland AL, Stenberg N, Oie MG, Andreassen OA. Autism spectrum disorder polygenic scores are associated with every day executive function in children admitted for clinical assessment. Autism Res ;2019 (Sep 30)

Autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDs) are behaviorally defined disorders with overlapping clinical features that are often associated with higher-order cognitive dysfunction, particularly executive dysfunction. Our aim was to determine if the polygenic score (PGS) for ASD is associated with parent-reported executive dysfunction in everyday life using the Behavior Rating Inventory of Executive Function (BRIEF). Furthermore, we investigated if PGS for general intelligence (INT) and attention deficit/hyperactivity disorder (ADHD) also correlate with BRIEF. We included 176 children, adolescents and young adults aged 5-22 years with full-scale intelligence quotient (IQ) above 70. All were admitted for clinical assessment of ASD symptoms and 68% obtained an ASD diagnosis. We found a significant difference between low and high ASD PGS groups in the BRIEF behavior regulation index (BRI) (P = 0.015, Cohen’s d = 0.69). A linear regression model accounting for age, sex, full-scale IQ, Social Responsiveness Scale (SRS) total score, ASD, ADHD and INT PGS groups as well as genetic principal components, significantly predicted the BRI score ; F(11,130) = 8.142, P < 0.001, R(2) = 0.41 (unadjusted). Only SRS total (P < 0.001), ASD PGS 0.1 group (P = 0.018), and sex (P = 0.022) made a significant contribution to the model. This suggests that the common ASD risk gene variants have a stronger association to behavioral regulation aspects of executive dysfunction than ADHD risk or INT variants in a clinical sample with ASD symptoms. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : People with autism spectrum disorder (ASD) often have difficulties with higher-order cognitive processes that regulate thoughts and actions during goal-directed behavior, also known as executive function (EF). We studied the association between genetics related to ASD and EF and found a relation between high polygenic score (PGS) for ASD and difficulties with behavior regulation aspects of EF in children and adolescents under assessment for ASD. Furthermore, high PGS for general intelligence was related to social problems.

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12. Wilczynski KM, Zasada I, Siwiec A, Janas-Kozik M. Differences in oxytocin and vasopressin levels in individuals suffering from the autism spectrum disorders vs general population - a systematic review. Neuropsychiatr Dis Treat ;2019 ;15:2613-2620.

Introduction : Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interactions, communication, and the presence of stereotyped, repetitive behaviors. Oxytocin (OXT) and arginine-vasopressin are neuropeptides produced in hypothalamus and they are related to processing emotions and social behavior. In the light of a growing number of scientific reports related to this issue, the two neurohormones started to be linked with the basis of neurodevelopmental disorders, including the ASD. The aim of this study was a systematic review of previous studies regarding the differences in OXT and vasopressin levels in ASD and neurotypical persons. Materials and methods : Literature review focused on publications in the last 10 years located via the MEDLINE/PubMed database as well as the Google Scholar browser. Selection was made by assumptive criteria of inclusion and exclusion. Results : From the 487 studies qualified to the initial abstract analysis, 12 met the six inclusion criteria and were included in the full-text review. Conclusion : Currently, available study reports still do not provide unequivocal answers as to the differences in concentrations of those neuropeptides between children with ASD and neurotypical control. Therefore, it is necessary to continue the research taking into account necessity of proper homogenization of study groups, utilization of objective and quantifiable tools for ASD diagnosis and broadening the range of biochemical and molecular factors analyzed.

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13. Zhang A, Li J, Zhang Y, Jin X, Ma J. Epilepsy and Autism Spectrum Disorder : An Epidemiological Study in Shanghai, China. Front Psychiatry ;2019 ;10:658.

Autism spectrum disorder (ASD) is a neurodevelopmental disease that may involve various brain abnormalities. However, there are few large epidemiological studies on the relation between epilepsy and ASD in terms of different genders and ages. This study aimed to evaluate the relation between epilepsy and ASD based on 74,251 Chinese children aged 3-12 years who were recruited from kindergartens and primary schools in China. ASD was diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-V), and verification of epilepsy was based on medical records. The enrolled children diagnosed with ASD were examined by magnetic resonance imaging (MRI) and took genetic tests to rule out other neurological and congenital diseases. The raw odds ratio (OR) was 60.53 [95% confidence interval (CI) = 37.80-96.92, P < 0.01] for epilepsy and ASD, and the adjusted OR was 38.99 (95% CI = 20.70-73.41, P < 0.01) after controlling for the confounders. Moreover, the adjusted OR was significantly higher in girls (OR = 45.26, 95% CI = 16.42-124.76, P < 0.01) than in boys (OR = 32.64, 95% CI = 14.33-74.34, P < 0.01). Among children with younger age, the adjusted OR was the highest (OR = 75.12, 95% CI = 22.80-247.48.16, P < 0.01). These findings suggest that epilepsy might be closely linked to the development of ASD, especially for early-onset epilepsy and among girls.

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