Pubmed du 18/07/19

jeudi 18 juillet 2019

1. Aabe NO, Fox F, Rai D, Redwood S. Inside, outside and in-between : The process and impact of co-producing knowledge about autism in a UK Somali community. Health Expect ;2019 (Jul 18)

BACKGROUND : Co-production is predicated on equal power-sharing and responsibility in research partnerships. However, relatively few accounts exist that explore the subjective experience of how co-researchers achieve such equality, from the perspectives of public contributors and researchers. AIM : This paper aims to provide a unique insight into the process of co-production, by weaving personal reflections with principles to evaluate the impact arising from co-produced knowledge. It is based upon participatory research that was initiated by a ’lay’ person, on behalf of a community organization, seeking support for Somali families who are affected by autism. The paper explores the evolving partnerships that began with community theatre and qualitative research and leading to extensive dissemination and impact, all of which has been jointly owned and negotiated by the co-researchers and community organizations. DISCUSSION : Initially, this paper reflects on the process, drawing on principles defined for co-production in health research and combining it with the co-researcher’s personal reflections of their experiences as insiders and outsiders, stepping in and out of each other’s worlds. The value of reciprocity, flexibility and continuous reflection is illustrated. The latter part of the paper explores the impact of this co-produced knowledge using a theoretical framework, to assess the specific impacts and its broader transformative potential. It demonstrates how (1) opportunities for all partners to be equitably involved to the maximum degree possible throughout the research process can affect social change and (2) co-produced research can become a catalyst that is dynamic and complex, achieving multi-layered impact.

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2. Bai D, Yip BHK, Windham GC, Sourander A, Francis R, Yoffe R, Glasson E, Mahjani B, Suominen A, Leonard H, Gissler M, Buxbaum JD, Wong K, Schendel D, Kodesh A, Breshnahan M, Levine SZ, Parner ET, Hansen SN, Hultman C, Reichenberg A, Sandin S. Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort. JAMA Psychiatry ;2019 (Jul 17)

Importance : The origins and development of autism spectrum disorder (ASD) remain unresolved. No individual-level study has provided estimates of additive genetic, maternal, and environmental effects in ASD across several countries. Objective : To estimate the additive genetic, maternal, and environmental effects in ASD. Design, Setting, and Participants : Population-based, multinational cohort study including full birth cohorts of children from Denmark, Finland, Sweden, Israel, and Western Australia born between January 1, 1998, and December 31, 2011, and followed up to age 16 years. Data were analyzed from September 23, 2016 through February 4, 2018. Main Outcomes and Measures : Across 5 countries, models were fitted to estimate variance components describing the total variance in risk for ASD occurrence owing to additive genetics, maternal, and shared and nonshared environmental effects. Results : The analytic sample included 2001631 individuals, of whom 1027546 (51.3%) were male. Among the entire sample, 22156 were diagnosed with ASD. The median (95% CI) ASD heritability was 80.8% (73.2%-85.5%) for country-specific point estimates, ranging from 50.9% (25.1%-75.6%) (Finland) to 86.8% (69.8%-100.0%) (Israel). For the Nordic countries combined, heritability estimates ranged from 81.2% (73.9%-85.3%) to 82.7% (79.1%-86.0%). Maternal effect was estimated to range from 0.4% to 1.6%. Estimates of genetic, maternal, and environmental effects for autistic disorder were similar with ASD. Conclusions and Relevance : Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%, indicating that the variation in ASD occurrence in the population is mostly owing to inherited genetic influences, with no support for contribution from maternal effects. The results suggest possible modest differences in the sources of ASD risk between countries.

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3. Broder-Fingert S, Stadnick NA, Hickey E, Goupil J, Diaz Lindhart Y, Feinberg E. Defining the core components of Family Navigation for autism spectrum disorder. Autism ;2019 (Jul 16):1362361319864079.

This study aimed to define the core components of Family Navigation for autism spectrum disorder, a promising intervention to reduce disparities in care for this population. Teams from four trials of Family Navigation for autism spectrum disorder completed the Template for Intervention Description and Replication checklist to outline intervention components. Through intervention component analysis and qualitative synthesis, we identified 11 core components across three domains : Training and Supervision, Navigator Tools, and Navigator Activities. We discuss the importance of identifying these core components and implications for future research and practice.

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4. Drmic IE, Szatmari P, Volkmar F. Life Course Health Development in Autism Spectrum Disorders.2018:237-274.

Life course health development (LCHD) incorporates theories and empirical evidence from the biological, physical, and social sciences to formulate a framework that explains how health develops over the life course. The life course health development conceptual framework can be applied to autism spectrum disorders (ASD) to help prioritize a research agenda and improve health development across the lifespan for individuals with ASD, their families, and communities. The following chapter highlights some issues and findings that are pertinent to an understanding of ASD using the lens of the life course health development principles. The chapter begins with a description of the clinical phenotype, followed by epidemiology of the disorder, and reviews changes in classification and diagnosis over time. Pathogenesis of the disorder is discussed, including information pertaining to hereditability, genetic and nongenetic factors, epigenetics, biomarkers, and genotype-phenotype correlations. Long-term follow-up outcome studies of adult independence and quality of life are reviewed, including examination of predictors of outcome, as well as stability of the diagnosis, symptom presentation, and cognitive functioning over time. Areas of key transitions over the life course are discussed from childhood to later adulthood. In addition, the importance of mental health status and care are highlighted. Finally, a number of research, data/methods, and translational priorities are offered that may help lead to a better understanding of life course health development in ASD.

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5. Gogou M, Kolios G. Nutritional Supplements During Gestation and Autism Spectrum Disorder : What Do We Really Know and How Far Have We Gone ?. J Am Coll Nutr ;2019 (Jul 18):1-11.

Nutritional interventions are gaining remarkable attention as complementary management options for autism. Our aim is to provide literature data about the impact of the administration of dietary supplements during pregnancy on the risk of autism spectrum disorder in the offspring. A comprehensive search was undertaken by 2 reviewers independently using PubMed as the medical database source. Prospective clinical and experimental studies were considered and no year-of-publication restriction was placed. We were able to identify 4 basic (conducted in rodents) and 3 clinical research papers fulfilling our selection criteria. Supplements studied included folic acid, iron, multivitamins, choline, vitamin D, and docosahexaenoic acid. Choline and folic acid had a significant impact on the expression of autism-related genes. However, from a clinical point of view, prenatal folate administration did not reduce the risk of autism. Similarly, iron had no significant impact, while the use of multivitamins in moderate frequency had a protective effect. The use of vitamin D and docosahexaenoic acid during gestation decreased the incidence of autism in animal models. In conclusion, available data are controversial and cannot change current routine practice. More large-scale prospective studies are needed to identify the real effect of nutritional supplements and also optimize their administration. Key teaching points Multivitamins use during pregnancy can exert a protective effect on the risk of autism, although depending on the frequency of use. Nevertheless, prenatal iron and folate were not shown to have any significant impact. Research based on animal models showed that choline and folic acid can have a significant impact on the expression of autism-related genes in a sex-specific manner. Furthermore, the use of vitamin D and docosahexaenoic acid during gestation seem to decrease the incidence of autism in animal offspring. In the future, more clinical, large-scale prospective and methodologically homogenous clinical studies are needed to further investigate the effect of the periconceptional use of nutritional supplements on autism risk.

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6. Hamner T, Raitano Lee N, Hocking DR, Vivanti G. Shared and syndrome-specific adaptive difficulties in preschoolers with Williams syndrome and autism spectrum disorder : a cross-syndrome study. J Intellect Disabil Res ;2019 (Jul 18)

BACKGROUND : Understanding adaptive functioning profiles in children with Williams syndrome (WS) and autism spectrum disorder (ASD) is critical to inform treatment strategies. However, knowledge in this area is limited and inconclusive. METHOD : The current study aimed to characterise the early adaptive profiles of young children with WS (n = 18 ; Mage = 47 months) and ASD (n = 26 ; Mage = 45 months) matched on chronological age and developmental age using the Vineland Scales of Adaptive Behavior, Second Edition. RESULTS : Results suggest that young children with WS and ASD do not differ on their overall level of adaptive functioning but that those with WS show relative strengths in the Socialisation scale compared with children with ASD. No other subscales differed between groups. Within groups, the WS group showed a profile of Communication, Daily Living Skills and Motor < Socialisation, whereas the ASD group did not evidence differences across subscales. CONCLUSIONS : Consideration of the shared and syndrome-specific adaptive profiles provides relevant insight on intervention targets and strategies. Given the shared challenges across the two clinical groups, implications and future directions are discussed.

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7. Hull L, Lai MC, Baron-Cohen S, Allison C, Smith P, Petrides KV, Mandy W. Gender differences in self-reported camouflaging in autistic and non-autistic adults. Autism ;2019 (Jul 18):1362361319864804.

Social camouflaging describes the use of strategies to compensate for and mask autistic characteristics during social interactions. A newly developed self-reported measure of camouflaging (Camouflaging Autistic Traits Questionnaire) was used in an online survey to measure gender differences in autistic (n = 306) and non-autistic adults (n = 472) without intellectual disability for the first time. Controlling for age and autistic-like traits, an interaction between gender and diagnostic status was found : autistic females demonstrated higher total camouflaging scores than autistic males (partial eta(2) = 0.08), but there was no camouflaging gender difference for non-autistic people. Autistic females scored higher than males on two of three Camouflaging Autistic Traits Questionnaire subscales : Masking (partial eta(2) = 0.05) and Assimilation (partial eta(2) = 0.06), but not on the Compensation subscale. No differences were found between non-autistic males and females on any subscale. No differences were found between non-binary individuals and other genders in either autistic or non-autistic groups, although samples were underpowered. These findings support previous observations of greater camouflaging in autistic females than males and demonstrate for the first time no self-reported gender difference in non-autistic adults.

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8. Jobin A. Varied treatment response in young children with autism : A relative comparison of structured and naturalistic behavioral approaches. Autism ;2019 (Jul 16):1362361319859726.

Heterogeneity of treatment response is common in children with autism spectrum disorder. Thus, many providers vary the intervention used based on child characteristics and learning domain. An improved understanding of how to match treatments to different children and domain areas may enhance efforts to individualize treatment and improve treatment response. This study evaluated the relative efficacy of discrete trial training and pivotal response training for teaching young children at risk for autism spectrum disorder receptive and expressive language, play, and imitation skills. Using a single-subject adapted alternating treatments design, children received both the treatments for 12 weeks. Data were collected during treatment and at 3-month follow-up. All participants acquired target skills in both treatments and demonstrated some generalization, maintenance, and spontaneous skill use. Pivotal response training and discrete trial training were each more effective for some children and domains. The results suggest that early rates of learning may be predictive of longer-term treatment response and useful in informing treatment decisions.

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9. Jutla A, Reed H, Veenstra-VanderWeele J. The Architecture of Autism Spectrum Disorder Risk : What Do We Know, and Where Do We Go From Here ?. JAMA Psychiatry ;2019 (Jul 17)

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10. Kwon S, Sung IY, Ko EJ, Kim HS. Effects of Therapeutic Horseback Riding on Cognition and Language in Children With Autism Spectrum Disorder or Intellectual Disability : A Preliminary Study. Ann Rehabil Med ;2019 (Jun) ;43(3):279-288.

OBJECTIVE : To investigate if therapeutic horseback riding (THR) can improve language and cognitive function in children with autism spectrum disorder (ASD) or intellectual disability (ID). METHODS : We conducted a prospective case-control study on children diagnosed with ASD or ID. Eighteen and 11 children were enrolled for THR and control groups, respectively. For 8 weeks, those in the THR group underwent conventional therapy plus 30 minutes of THR per week while controls only received conventional therapy. Participants’ language (using Receptive and Expressive Vocabulary Test [REVT] and Preschool Receptive-Expressive Language Scale [PRES]) and cognitive abilities (using Kaufman Assessment Battery for Children [K-ABC] and the cognitive domain of Bayley Scales of Infant Development-II [BSID-II]) were assessed at baseline and at 8 weeks after treatment. RESULTS : There was no baseline difference between the two groups. In the THR group, there were statistically significant improvements in most domains after THR including receptive and expressive language and cognition compared to those before THR. In the control group, however, only receptive vocabulary ability assessed by REVT and cognitive function assessed by BSID-II showed improvements after conventional therapy. However, there were no statistically significant differences in language or cognitive abilities between the two groups at 8 weeks after treatment. CONCLUSION : These results suggest that THR might improve language and cognitive abilities. Although the mechanisms and pathways involved in such improvements are currently unclear based on our findings, THR might have potential to optimize language and cognitive abilities of children with ASD and ID.

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11. Landes SD, Stevens JD, Turk MA. Heterogeneity in age at death for adults with developmental disability. J Intellect Disabil Res ;2019 (Jul 16)

BACKGROUND : Although increased attention has been devoted to mortality trends for adults with developmental disability, research has not accounted for possible differences in age at death between disability types. We examine whether heterogeneity is present in age at death between adults with different types of developmental disability. METHODS : Data were from the 2012-2016 U.S. Multiple Cause-of-Death Mortality files. Mean age at death and age at death distributions were analysed for adults, aged 18-126, with and without developmental disability collectively and then stratified by biological sex. RESULTS : There were 33 154 decedents with and 13 026 759 without developmental disability. Compared with adults without developmental disability, age at death was lower for all decedents with developmental disability but varied markedly by disability type and biological sex. Among adults with developmental disability, those with intellectual disability had the highest age at death, and those with cerebral palsy or other rare developmental disabilities, especially if co-morbid for a second developmental disability, had the lowest age at death. CONCLUSION : Research on age at death for adults with developmental disability must account for heterogeneity among disability types in order to ensure reliable estimates. Failure to do so conceals important differences between disability types, which can misguide public health and preventive care efforts to reduce premature mortality and/or provide aging-related supports.

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12. Patra S, Kumar Patro B. Affiliate stigma among parents of children with autism in eastern India. Asian J Psychiatr ;2019 (Jul 8) ;44:45-47.

Parents of children with autism experience high levels of stigma. They often internalize stigma which results in high psychological distress and has negative impact on seeking and providing care. Qualitative methodology has been used to study stigma in Indian population while quantitative studies have not been reported. The authors report affiliate stigma perception among parents of children with autism in a tertiary care medical centre using Affiliate Stigma Scale. Thirty-eight parents participated in this cross- sectional study. We discuss predictors of stigma in terms of caregiver characteristics and symptom profile. Identification of predictors of stigma perception can help in identifying populations at risk.

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13. Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, Weksberg R. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci : 16p11.2 deletions and CHD8 variants. Clin Epigenetics ;2019 (Jul 16) ;11(1):103.

BACKGROUND : Autism spectrum disorder (ASD) is a common and etiologically heterogeneous neurodevelopmental disorder. Although many genetic causes have been identified (> 200 ASD-risk genes), no single gene variant accounts for > 1% of all ASD cases. A role for epigenetic mechanisms in ASD etiology is supported by the fact that many ASD-risk genes function as epigenetic regulators and evidence that epigenetic dysregulation can interrupt normal brain development. Gene-specific DNAm profiles have been shown to assist in the interpretation of variants of unknown significance. Therefore, we investigated the epigenome in patients with ASD or two of the most common genomic variants conferring increased risk for ASD. Genome-wide DNA methylation (DNAm) was assessed using the Illumina Infinium HumanMethylation450 and MethylationEPIC arrays in blood from individuals with ASD of heterogeneous, undefined etiology (n = 52), and individuals with 16p11.2 deletions (16p11.2del, n = 9) or pathogenic variants in the chromatin modifier CHD8 (CHD8(+/-), n = 7). RESULTS : DNAm patterns did not clearly distinguish heterogeneous ASD cases from controls. However, the homogeneous genetically-defined 16p11.2del and CHD8(+/-) subgroups each exhibited unique DNAm signatures that distinguished 16p11.2del or CHD8(+/-) individuals from each other and from heterogeneous ASD and control groups with high sensitivity and specificity. These signatures also classified additional 16p11.2del (n = 9) and CHD8 (n = 13) variants as pathogenic or benign. Our findings that DNAm alterations in each signature target unique genes in relevant biological pathways including neural development support their functional relevance. Furthermore, genes identified in our CHD8(+/-) DNAm signature in blood overlapped differentially expressed genes in CHD8(+/-) human-induced pluripotent cell-derived neurons and cerebral organoids from independent studies. CONCLUSIONS : DNAm signatures can provide clinical utility complementary to next-generation sequencing in the interpretation of variants of unknown significance. Our study constitutes a novel approach for ASD risk-associated molecular classification that elucidates the vital cross-talk between genetics and epigenetics in the etiology of ASD.

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14. Unruh KE, Martin LE, Magnon GC, Vaillancourt DE, Sweeney JA, Mosconi MW. Cortical and subcortical alterations associated with precision visuomotor behavior in individuals with autism spectrum disorder. J Neurophysiol ;2019 (Jul 17)

In addition to core deficits in social-communication abilities and repetitive behaviors and interests, many patients with autism spectrum disorder (ASD) experience developmental comorbidities, including sensorimotor issues. Sensorimotor issues are common in ASD and associated with more severe clinical symptoms. Importantly, sensorimotor behaviors are precisely quantifiable and highly translational, offering promising targets for neurophysiological studies of ASD. We used functional MRI to identify brain regions associated with sensorimotor behavior using a visually-guided precision gripping task in individuals with ASD (N=20) and age-, IQ-, and handedness-matched controls (N=18). During visuomotor behavior, individuals with ASD showed greater force variability than controls. BOLD signal for multiple cortical and subcortical regions was associated with force variability, including motor and premotor cortex, posterior parietal cortex, extrastriate cortex, putamen, and cerebellum. Activation in right premotor cortex scaled with sensorimotor variability in controls, but not in ASD. Individuals with ASD showed greater activation than controls in left putamen and left cerebellar lobule VIIb and activation in these regions was associated with more severe clinically-rated symptoms of ASD. Together, these results suggest that greater sensorimotor variability in ASD is associated with altered cortical-striatal processes supporting action selection and cortical-cerebellar circuits involved in feedback-guided reactive adjustments of motor output. Our findings also indicate that atypical organization of visuomotor cortical circuits may result in heightened reliance on subcortical circuits typically dedicated to motor skill acquisition. Overall, these results provide new evidence that sensorimotor alterations in ASD involve aberrant cortical and subcortical organization that may contribute to key clinical issues in patients.

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