Pubmed du 19/07/19

vendredi 19 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. Adornetti I, Ferretti F, Chiera A, Wacewicz S, Zywiczynski P, Deriu V, Marini A, Magni R, Casula L, Vicari S, Valeri G. Do Children With Autism Spectrum Disorders Understand Pantomimic Events ?. Front Psychol ;2019 ;10:1382.

Impairments of motor representation of actions have been reported as a core component of autism spectrum disorders (ASD). Individuals with ASD have difficulties in a number of functions such as assuming anticipatory postures, imitating body movements, producing and understanding gestures, and recognizing motor intentions. Such cognitive-motor abilities are all involved in pantomime. However, the available evidence on the production and comprehension of pantomime in individuals with ASD is still inconclusive. The current investigation assessed pantomime comprehension in 40 children with high-functioning ASD and 40 children with typical development balanced for age, IQ, level of formal education, and cognitive profile. The participants were asked to watch video recordings of pantomimes representing simple transitive events enacted by actors and match them to the corresponding pictorial representations. Such pantomimes were delivered in two conditions with different levels of information content (i.e., lean or rich). The two groups of children performed similarly on these tasks. Nonetheless, children with ASD who were administered the pantomimes in the lean condition performed worse than participants who were administered the informatively richer pantomimes. The methodological implications for interpretation of previous findings and future studies are discussed.

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3. Beetham KS, Bundy AC, Wyver S, Ragen J, Villeneuve M, Tranter P, Naughton G. Construct Validity and Test-Retest Reliability of the Coping Inventory (CI) for Children With Developmental Disabilities. Am J Occup Ther ;2019 (Jul/Aug) ;73(4):7304205100p7304205101-7304205100p7304205110.

OBJECTIVE : A reliable, valid, and readily usable method of measuring coping is essential for occupational therapy practitioners and researchers working with children with developmental disabilities. The aim of this study was to examine evidence for the construct validity and internal and test-retest reliability of the Coping Inventory (CI), a 48-item survey designed for use with children. METHOD : School staff (N = 39) completed CIs for 79 students with developmental disabilities age 5-13 yr (mean = 8.0, standard deviation = 2.0) who were primarily boys (n = 52 ; 68%) with autism spectrum disorder (n = 40 of 47 diagnoses provided). We used Rasch analysis to examine construct validity, internal reliability, and possible redundancy of items and intraclass correlations, Pearson correlations, Bland-Altman plots, and t tests were used to examine test-retest reliability. RESULTS : Rasch analysis provided evidence of construct validity : All items correlated positively with the overall measure ; data from 94% of items conformed with Rasch expectations, and the items form a logical hierarchy. Intraclass correlations revealed an average coefficient of .96, providing evidence of test-retest reliability. CONCLUSION : The CI demonstrated good evidence for construct validity and internal and test-retest reliability. Redundancy of items suggests that some items could be eliminated after further research.

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4. Bilaver LA, Havlicek J. Racial and Ethnic Disparities in Autism-Related Health and Educational Services. J Dev Behav Pediatr ;2019 (Jul 10)

OBJECTIVE : The objective of this study is to measure racial and ethnic disparities in autism-related services among U.S. children with parent-reported autism spectrum disorder (ASD). METHODS : Using the 2011 Survey of Pathways to Diagnosis and Services, we analyzed parent-reported data on 1420 children with current ASD in the nationally representative sample. An estimation method consistent with the Institute of Medicine’s definition of health care disparities is used to measure racial and ethnic disparities. RESULTS : The findings revealed Latino-white disparities in the percentage of children currently using school-based occupational and physical therapy and Latino-white and "other race"-white disparities in the percentage of children using physical therapy outside of school. There were no statistically significant black-white disparities. Instead, the study found that the percentage of black children with ASD receiving school-based services was 8 points higher than that of white children (p < 0.04). Factors unrelated to the need for autism services were largely unassociated with the receipt of services. CONCLUSION : The findings provide a partial baseline and identify a need for further examination of the source of existing disparities and the lack of disparities found for specific services and minority groups.

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5. Croen LA, Qian Y, Ashwood P, Zerbo O, Schendel D, Pinto-Martin J, Daniele Fallin M, Levy S, Schieve LA, Yeargin-Allsopp M, Sabourin KR, Ames JL. Infection and Fever in Pregnancy and Autism Spectrum Disorders : Findings from the Study to Explore Early Development. Autism Res ;2019 (Jul 17)

Maternal infection and fever during pregnancy have been implicated in the etiology of autism spectrum disorder (ASD) ; however, studies have not been able to separate the effects of fever itself from the impact of a specific infectious organism on the developing brain. We utilized data from the Study to Explore Early Development (SEED), a case-control study among 2- to 5-year-old children born between 2003 and 2006 in the United States, to explore a possible association between maternal infection and fever during pregnancy and risk of ASD and other developmental disorders (DDs). Three groups of children were included : children with ASD (N = 606) and children with DDs (N = 856), ascertained from clinical and educational sources, and children from the general population (N = 796), randomly sampled from state birth records. Information about infection and fever during pregnancy was obtained from a telephone interview with the mother shortly after study enrollment and maternal prenatal and labor/delivery medical records. ASD and DD status was determined by an in-person standardized developmental assessment of the child at 3-5 years of age. After adjustment for covariates, maternal infection anytime during pregnancy was not associated with ASD or DDs. However, second trimester infection accompanied by fever elevated risk for ASD approximately twofold (aOR = 2.19, 95% confidence interval 1.14-4.23). These findings of an association between maternal infection with fever in the second trimester and increased risk of ASD in the offspring suggest that the inflammatory response to the infectious agent may be etiologically relevant. Autism Res2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Using data from a large multisite study in the United States-the Study to Explore Early Development-we found that women who had an infection during the second trimester of pregnancy accompanied by a fever are more likely to have children with ASD. These findings suggest the possibility that only more severe infections accompanied by a robust inflammatory response increase the risk of ASD.

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6. Dy ABC, Tanchanco LS. Co-Occurrence of Autism Spectrum Disorder and Achondroplasia. Front Psychiatry ;2019 ;10:450.

Autism spectrum disorder (ASD) and achondroplasia are common disorders on their own. However, this case of co-occurrence in the same patient has not yet been reported in literature except for a hypothesized statistical probability based on prevalence studies stating that two to five in 10 million children could have the probability of having both conditions occurring simultaneously. Achondroplasia typically presents with motor delays and difficulties that are related to musculoskeletal impairments that can affect self-care, mobility, and social cognition ; however, the presence of delays in other domains of development, particularly in social communication, raises a suspicion of a co-occurring autism spectrum disorder. The content of this report reviews the common delays and difficulties seen in children with achondroplasia and those with autism spectrum disorder and describes the presence of both in the child presented in this case.

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7. Gale CM, Eikeseth S, Klintwall L. Children with Autism show Atypical Preference for Non-social Stimuli. Sci Rep ;2019 (Jul 17) ;9(1):10355.

The present investigation describes three studies testing the hypothesis that children with Autism Spectrum Disorder (ASD) show an atypical preference for non-social stimuli. Preference for non-social and social stimuli was assessed using applications on a portable tablet computer. Twenty-eight children with ASD were matched on developmental age with the chronological age of 41 typically developing (TD) children. The non-social stimuli consisted of six different films of abstract moving geometric patterns. Social stimuli were six different films of the face of young adults (Study 1 and 3) or six films of different dogs’ faces (Study 2). When given a choice between the non-social and social stimuli, children with ASD preferred the non-social stimuli. When the human faces were replaced with dogs’ faces the participants with ASD continued to prefer the non-social stimuli. A high reinforcement value of non-social stimuli was also demonstrated when the non-social stimuli were presented alone, suggesting the preference for the non-social stimuli was not simply an avoidance of social stimuli. Whenever an infant prefers non-social stimuli over social stimuli, non-typical development in social communication and social interests may result, together with the development of high levels and frequently occurring stereotyped and repetitive behavior. These behaviors define Autism.

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8. Gao Y, Linke A, Jao Keehn RJ, Punyamurthula S, Jahedi A, Gates K, Fishman I, Muller RA. The Language Network in Autism : Atypical Functional Connectivity With Default Mode and Visual Regions. Autism Res ;2019 (Jul 17)

Autism spectrum disorders (ASDs) are neurodevelopmental disorders associated with atypical brain connectivity. Although language abilities vary widely, they are impaired or atypical in most children with ASDs. Underlying brain mechanisms, however, are not fully understood. The present study examined intrinsic functional connectivity (iFC) of the extended language network in a cohort of 52 children and adolescents with ASDs (ages 8-18 years), using resting-state functional magnetic resonance imaging. We found that, in comparison to typically developing peers (n = 50), children with ASDs showed increased connectivity between some language regions. In addition, seed-to-whole brain analyses revealed increased connectivity of language regions with posterior cingulate cortex (PCC) and visual regions in the ASD group. Post hoc effective connectivity analyses revealed a mediation effect of PCC on the iFC between bilateral inferior frontal and visual regions in an ASD subgroup. This finding qualifies and expands on previous reports of recruitment of visual areas in language processing in ASDs. In addition, increased iFC between PCC and visual regions was linked to lower language scores in this ASD subgroup, suggesting that increased connectivity with visual cortices, mediated by default mode regions, may be detrimental to language abilities. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : We examined the functional connectivity between regions of the language network in children with autism spectrum disorders (ASDs) compared to typically developing peers. We found connectivity to be intact between core language in the ASD group, but also showed abnormally increased connectivity between regions of an extended language network. Additionally, connectivity was increased with regions associated with brain networks responsible for self-reflection and visual processing.

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9. 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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10. Hope KA, Flatten D, Cavitch P, May B, Sutcliffe JS, O’Donnell J, Reiter LT. The Drosophila Gene Sulfateless Modulates Autism-Like Behaviors. Front Genet ;2019 ;10:574.

Major challenges to identifying genes that contribute to autism spectrum disorder (ASD) risk include the availability of large ASD cohorts, the contribution of many genes overall, and small effect sizes attributable to common gene variants. An alternative approach is to use a model organism to detect alleles that impact ASD-relevant behaviors and ask whether homologous human genes infer ASD risk. Here we utilized the Drosophila genetic reference panel (DGRP) as a tool to probe for perturbation in naturally occurring behaviors in Drosophila melanogaster that are analogous to three behavior domains : impaired social communication, social reciprocity and repetitive behaviors or restricted interests. Using 40 of the available DGRP lines, we identified single nucleotide polymorphisms (SNPs) in or near genes controlling these behavior domains, including ASD gene orthologs (neurexin 4 and neuroligin 2), an intellectual disability (ID) gene homolog (kirre), and a gene encoding a heparan sulfate (HS) modifying enzyme called sulfateless (sfl). SNPs in sfl were associated with all three ASD-like behaviors. Using RNAi knock-down of neuronal sfl expression, we observed significant changes in expressive and receptive communication during mating, decreased grooming behavior, and increased social spacing. These results suggest a role for HS proteoglycan synthesis and/or modification in normal social communication, repetitive behavior, and social interaction in flies. Finally, using the DGRP to directly identify genetic effects relevant to a neuropsychiatric disorder further demonstrates the utility of the Drosophila system in the discovery of genes relevant to human disease.

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11. Iourov IY, Vorsanova SG, Zelenova MA, Vasin KS, Kurinnaia OS, Korostelev SA, Yurov YB. [Epigenomic variations manifesting as a loss of heterozygosity affecting imprinted genes represent a molecular mechanism of autism spectrum disorders and intellectual disability in children]. Zh Nevrol Psikhiatr Im S S Korsakova ;2019 ;119(5):91-97.

AIM : Long continuous stretches of homozygosity (LCSH) are regularly detected in studies using molecular karyotyping (SNP array). Despite this type of variation being able to provide meaningful data on the parents’ kinship, uniparental disomy and chromosome rearrangements, LCSH are rarely considered as a possible epigenetic cause of neurodevelopmental disorders. Despite their direct relationship to imprinting, LCSH in imprinted loci have not been considered in terms of pathogenicity. The present work is aimed at studying LCSH in chromosomal regions containing imprinted genes previously associated with disease in children with idiopathic intellectual disability, autism, congenital malformations and/or epilepsy. MATERIAL AND METHODS : Five hundred and four patients with autism spectrum disorders and intellectual disability were examined. RESULTS : LCSH affecting imprinted loci associated with various diseases were identified in 40 (7.9%) individuals. Chromosomal region 7q21.3 was affected in twenty three cases, 15q11.2 in twelve, 11p15.5 in five, 7q32.2 in four. Four patients had 2 LCSH affecting imprinted loci. Besides one LCSH in 7q31.33q32.3 ( 4 Mbp) region, all LCSH were 1-1.6 Mbp. Clinically, these cases resembled the corresponding imprinting diseases (e.g. Silver-Russell, Beckwith-Wiedemann, Prader-Willi, Angelman syndromes). Parental kinship was identified in 8 cases (1.59%), which were not affected by LCSH at imprinted loci. CONCLUSION : The present study shows that LCSH affecting chromosomal regions 7q21.3, 7q32.2, 11p15.5 and 15p11.2 occur in about 7.9% of children with intellectual disability, autism, congenital malformations and/or epilepsy. Consequently, this type of epigenetic mutations is obviously common in a group of children with neurodevelopmental disorders. LCSH less than 2.5-10 Mbp are usually ignored in molecular karyotyping (SNP array) studies and, therefore, an important epigenetic cause of intellectual disability, autism or epilepsy with high probability remains without attention.

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12. Lai J, Klag M, Shikako-Thomas K. Designing a program evaluation for a medical-dental service for adults with autism and intellectual disabilities using the RE-AIM framework. Learn Health Syst ;2019 (Jul) ;3(3):e10192.

Introduction : Robust evaluation of service models can improve the quality and efficiency of care while articulating the models for potential replication. Even though it is an essential part of learning health systems, evaluations that benchmark and sustain models serving adults with developmental disabilities are lacking, impeding pilot programs from becoming official care pathways. Here, we describe the development of a program evaluation for a specialized medical-dental community clinic serving adults with autism and intellectual disabilities in Montreal, Canada. Method : Using a Participatory Action-oriented approach, researchers and staff co-designed an evaluation for a primary care service for this population. We performed an evaluability assessment to identify the processes and outcomes that were feasible to capture and elicited perspectives at both clinical and health system levels. The RE-AIM framework was used to categorize and select tools to capture data elements that would inform practice at the clinic. Results : We detail the process of conceptualizing the evaluation framework and operationalizing the domains using a mixed-methods approach. Our experience demonstrated (1) the utility of a comprehensive framework that captures contextual factors in addition to clinical outcomes, (2) the need for validated measures that are not cumbersome for everyday practice, (3) the importance of understanding the functional needs of the organization and building a sustainable data infrastructure that addresses those needs, and (4) the need to commit to an evolving, "living" evaluation in a dynamic health system. Conclusions : Evaluation employing rigorous patient-centered and systems-relevant metrics can help organizations effectively implement and continuously improve service models. Using an established framework and a collaborative approach provides an important blueprint for a program evaluation in a learning health system. This work provides insight into the process of integrating care for vulnerable populations with chronic conditions in health care systems and integrated knowledge generation processes between research and health systems.

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13. Leonzino M, Ponzoni L, Braida D, Gigliucci V, Busnelli M, Ceresini I, Duque-Wilckens N, Nishimori K, Trainor BC, Sala M, Chini B. Impaired approach to novelty and striatal alterations in the oxytocin receptor deficient mouse model of autism. Horm Behav ;2019 (Jul 19) ;114:104543.

Long-standing studies established a role for the oxytocin system in social behavior, social reward, pair bonding and affiliation. Oxytocin receptors, implicated in pathological conditions affecting the social sphere such as autism spectrum disorders, can also modulate cognitive processes, an aspect generally overlooked. Here we examined the effect of acute (pharmacological) or genetic (Oxtr(-/-)) inactivation of oxytocin receptor-mediated signaling, in male mice, in several cognitive tests. In the novel object recognition test, both oxytocin receptor antagonist treated wild type animals and Oxtr(-/-) mice lacked the typical preference for novelty. Oxtr(-/-) mice even preferred the familiar object ; moreover, their performance in the Morris water maze did not differ from wild types, suggesting that oxytocin receptor inactivation did not disrupt learning. Because the preference for novel objects could be rescued in Oxtr(-/-) mice with longer habituation periods, we propose that the loss of novelty preferences following Oxtr inactivation is due to altered processing of novel contextual information. Finally, we observed an increased expression of excitatory synaptic markers in the striatum of Oxtr(-/-) mice and a greater arborization and higher number of spines/neuron in the dorsolateral area of this structure, which drives habit formation. Our data also indicate a specific reshaping of dorsolateral striatal spines in Oxtr(-/-) mice after exposure to a novel environment, which might subtend their altered approach to novelty, and support previous work pointing at this structure as an important substrate for autistic behaviors.

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14. Michelotto ALL, Anater A, Guebert MCC, Borges TD, Michelotto PV, Jr., Pimpao CT. Animal-Assisted Activity for Children with Autism Spectrum Disorder : Parents’ and Therapists’ Perception. J Altern Complement Med ;2019 (Jul 19)

Autism spectrum disorder (ASD), characterized by communication and social interaction difficulties, might be positively influenced by animal-assisted activity (AAA). The aim of this study was to investigate the parents’ and therapists’ perception to behavior in children with ASD after they underwent AAA. The study was performed in a specialized therapeutic center in Curitiba, South of Brazil. A total of 15 children (14 boys and 1 girl), aged 5.6 +/- 1.6 years, diagnosed with ASD, underwent at least 10 weekly 30-min AAA sessions. Three trained dogs were used in total, and there were two dogs in each session. Children were free to interact with dogs and among themselves, in groups of 11.2 +/- 2.2 children per session, in the presence of therapists, the researcher, and a veterinarian observing the dogs and ensuring safety. The parents and therapists completed two questionnaires on their perception of the children’s behavior before and after AAA. A total of 18 visits were necessary to complete the 10 sessions for each of the 15 children. According to the therapists’ perception, AAA increased positive gestures and facial expression in children (p = 0.010) and improved peer interaction. Even though there was a 50% reduction in the parents’ feedback at the end of the study, according to their perception there was a reduction in self-aggression and repetitive stereotyped movements, as well as an improvement in speech communication and creativity. This study demonstrated the positive effects of the AAA on the social behavior of children with ASD.

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15. Millar L, McConnachie A, Minnis H, Wilson P, Thompson L, Anzulewicz A, Sobota K, Rowe P, Gillberg C, Delafield-Butt J. Phase 3 diagnostic evaluation of a smart tablet serious game to identify autism in 760 children 3-5 years old in Sweden and the United Kingdom. BMJ Open ;2019 (Jul 16) ;9(7):e026226.

INTRODUCTION : Recent evidence suggests an underlying movement disruption may be a core component of autism spectrum disorder (ASD) and a new, accessible early biomarker. Mobile smart technologies such as iPads contain inertial movement and touch screen sensors capable of recording subsecond movement patterns during gameplay. A previous pilot study employed machine learning analysis of motor patterns recorded from children 3-5 years old. It identified those with ASD from age-matched and gender-matched controls with 93% accuracy, presenting an attractive assessment method suitable for use in the home, clinic or classroom. METHODS AND ANALYSIS : This is a phase III prospective, diagnostic classification study designed according to the Standards for Reporting Diagnostic Accuracy Studies guidelines. Three cohorts are investigated : children typically developing (TD) ; children with a clinical diagnosis of ASD and children with a diagnosis of another neurodevelopmental disorder (OND) that is not ASD. The study will be completed in Glasgow, UK and Gothenburg, Sweden. The recruitment target is 760 children (280 TD, 280 ASD and 200 OND). Children play two games on the iPad then a third party data acquisition and analysis algorithm (Play.Care, Harimata) will classify the data as positively or negatively associated with ASD. The results are blind until data collection is complete, when the algorithm’s classification will be compared against medical diagnosis. Furthermore, parents of participants in the ASD and OND groups will complete three questionnaires : Strengths and Difficulties Questionnaire ; Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations Questionnaire and the Adaptive Behavioural Assessment System-3 or Vineland Adaptive Behavior Scales-II. The primary outcome measure is sensitivity and specificity of Play.Care to differentiate ASD children from TD children. Secondary outcomes measures include the accuracy of Play.Care to differentiate ASD children from OND children. ETHICS AND DISSEMINATION : This study was approved by the West of Scotland Research Ethics Service Committee 3 and the University of Strathclyde Ethics Committee. Results will be disseminated in peer-reviewed publications and at international scientific conferences. TRIAL REGISTRATION NUMBER : NCT03438994 ; Pre-results.

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16. Parker ML, Diamond RM, Del Guercio AD. Care Coordination of Autism Spectrum Disorder : A Solution-Focused Approach. Issues Ment Health Nurs ;2019 (Jul 19):1-8.

The expanding practice of multi-disciplinary care to address the complex nature of Autism Spectrum Disorder (ASD) suggests that there is a need for a means of coordinating care that transcends the disciplinary distinctions of relevant ASD treatment providers. As ASD services become more specialized, there is a growing need for effective care coordination with providers across the systems of care. Nursing professionals are ideally qualified to support families affected by ASD, as they provide a necessary holistic lens of health and wellbeing to obtain the appropriate treatments. Solution-focused brief therapy has been applied to a growing number of clinical settings, indicating solution-focused techniques are applicable to the various contexts associated with ASD treatments. We provide a case presentation to demonstrate a solution-focused approach to address ASD-related concerns within the family that are generalizable to coordination of care.

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17. Perez-Crespo L, Prats-Uribe A, Tobias A, Duran-Tauleria E, Coronado R, Hervas A, Guxens M. Temporal and Geographical Variability of Prevalence and Incidence of Autism Spectrum Disorder Diagnoses in Children in Catalonia, Spain. Autism Res ;2019 (Jul 17)

This study aims to estimate the prevalence of autism spectrum disorders (ASD) in 2017 and the ASD diagnosis incidence between 2009 and 2017 in children living in Catalonia region in Spain, and their temporal and geographical variability. We used administrative data for all children aged 2-17 years who were insured in the public Catalan Health System between 2009 and 2017. We identified all ASD cases diagnosed between 2009 and 2017 (ICD-9 codes 299.0, 299.1, 299.8, and 299.9). We estimated the ASD prevalence in 2017 and the overall annual incidence between 2009 and 2017, then stratified by sex, age group, and healthcare area. We used Poisson regression models to assess temporal trends in the incidence and mixed-effects Poisson regression models to assess geographical variability. We observed an ASD prevalence of 1.23% (95% confidence interval [CI] 1.21-1.25) in 2017, with 1.95% (95% CI 1.92-1.99) for boys and 0.46% (95% CI 0.44-0.48) for girls, the highest prevalence being in 11- to 17-year-olds (1.80%, 95% CI 1.76-1.83). The ASD diagnosis incidence increased from 0.07% (95% CI 0.06-0.09) in 2009 to 0.23% (95% CI 0.21-0.24) in 2017, with a higher increase in girls, and in children aged 2-5 years at the time of diagnosis. We only observed geographical differences in prevalence in the 2017 data. We also detected a threefold increase in the diagnosis incidence overall, which was even more pronounced in girls and at early ages. In conclusion, the ASD prevalence observed in this study was 1.23% in 2017, with a sex ratio of 4.5 in favor of boys, which is consistent with previous studies. Autism Res2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Autism spectrum disorders (ASD) are currently well known in our society as one of the most common neurodevelopmental disorders during childhood. The results of our study showed that, in 2017 in Catalonia, slightly more than one in a 100 children had an ASD diagnosis, it was more common in boys than in girls, and also in older children. In addition, between 2009 and 2017, we observed an increase in the number of new cases diagnosed each year. The data presented in this study will assist in planning and evaluating the needs of health services in this geographical region.

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18. Pham T, Kuznetsova A, Gim H, Cordrey K, Milanaik R. The Internet’s Effect on Parental Trust in Pediatrician Diagnosis of Autism and Likelihood of Seeking a Second Opinion. J Autism Dev Disord ;2019 (Jul 17)

This study assessed how web-based information affects parental trust in physician’s diagnosis of autism (PDA) and likelihood of seeking a second opinion. Participants of an online survey were randomly allocated to one of three hypothetical scenarios, all were given a vignette of a non-verbal 18-month-old child followed by (1) not viewing Internet results, (2) viewing results suggesting autism, or (3) viewing results suggesting language delay and rated their trust and likelihood of seeking a second opinion. When Internet results contradicted PDA, parents reported less trust in PDA and greater likelihood of seeking a second opinion. Due to the Internet’s influence on parents’ response to PDA, clinicians should discuss their differential diagnosis with parents, address Internet-related concerns, and recommend trustworthy sources.

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19. Ramaekers VT, Sequeira JM, DiDuca M, Vrancken G, Thomas A, Philippe C, Peters M, Jadot A, Quadros EV. Improving Outcome in Infantile Autism with Folate Receptor Autoimmunity and Nutritional Derangements : A Self-Controlled Trial. Autism Res Treat ;2019 ;2019:7486431.

Background : In contrast to multiple rare monogenetic abnormalities, a common biomarker among children with infantile autism and their parents is the discovery of serum autoantibodies directed to the folate receptor alpha (FRalpha) localized at blood-brain and placental barriers, impairing physiologic folate transfer to the brain and fetus. Since outcome after behavioral intervention remains poor, a trial was designed to treat folate receptor alpha (FRalpha) autoimmunity combined with correction of deficient nutrients due to abnormal feeding habits. Methods : All participants with nonsyndromic infantile autism underwent a routine protocol measuring CBC, iron, vitamins, coenzyme Q10, metals, and trace elements. Serum FRalpha autoantibodies were assessed in patients, their parents, and healthy controls. A self-controlled therapeutic trial treated nutritional derangements with addition of high-dose folinic acid if FRalpha autoantibodies tested positive. The Childhood Autism Rating Scale (CARS) monitored at baseline and following 2 years of treatment was compared to the CARS of untreated autistic children serving as a reference. Results : In this self-controlled trial (82 children ; mean age +/- SD : 4.4 +/- 2.3 years ; male:female ratio : 4.8:1), FRalpha autoantibodies were found in 75.6 % of the children, 34.1 % of mothers, and 29.4 % of fathers versus 3.3 % in healthy controls. Compared to untreated patients with autism (n=84) whose CARS score remained unchanged, a 2-year treatment decreased the initial CARS score from severe (mean +/- SD : 41.34 +/- 6.47) to moderate or mild autism (mean +/- SD : 34.35 +/- 6.25 ; paired t-test p<0.0001), achieving complete recovery in 17/82 children (20.7 %). Prognosis became less favorable with the finding of higher FRalpha autoantibody titers, positive maternal FRalpha autoantibodies, or FRalpha antibodies in both parents. Conclusions : Correction of nutritional deficiencies combined with high-dose folinic acid improved outcome for autism, although the trend of a poor prognosis due to maternal FRalpha antibodies or FRalpha antibodies in both parents may warrant folinic acid intervention before conception and during pregnancy.

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20. Rea KE, Armstrong-Brine M, Ramirez L, Stancin T. Ethnic Disparities in Autism Spectrum Disorder Screening and Referral : Implications for Pediatric Practice. J Dev Behav Pediatr ;2019 (Jul 12)

OBJECTIVE : Autism spectrum disorder (ASD) screening completion rates are often low despite their validity and influence on earlier intervention and positive treatment outcomes. This study sought to examine the use of one ASD screening tool, the Modified Checklist for Autism in Toddlers-Revised (MCHAT-R), in a racially and ethnically diverse urban pediatric clinic to review potential disparities within screening rates and referral practices. METHODS : A retrospective chart review was conducted for children (N = 999) within the ages of 17 to 34 months seen for a well-child appointment at one of 3 pediatric clinics : a general pediatric clinic, resident pediatric clinic, and Hispanic pediatric clinic. RESULTS : MCHAT-R screening completion rates were low for all clinics. There were no significant differences in MCHAT-R screening completion based on ethnicity ; however, the percentage of children screening positive on the MCHAT-R was significantly higher for Hispanic versus non-Hispanic children. Referral practices were highly variable across positive screenings, and few children received the appropriate combination of referrals. CONCLUSION : Ethnic disparities in ASD positive screening rates and inconsistent referrals represent a critical issue in current pediatric practice. There is a great need for the development of more culturally sensitive ASD screening instruments. Additionally, to help increase ASD screening rate and accuracy, as well as consistency in referrals, greater emphasis is needed on professional training, parental education, and technology use within pediatric clinics.

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21. Rubenstein E, Bishop L. Is the Autism Boom Headed for Medicaid ? Patterns in the Enrollment of Autistic Adults in Wisconsin Medicaid, 2008-2018. Autism Res ;2019 (Jul 17)

Our primary objective was to describe demographic characteristics and enrollment patterns in a unique 11-year full sample of adult Wisconsin Medicaid beneficiaries with identified autism spectrum disorder (ASD) or intellectual disability (ID). We obtained de-identified Medicaid claims data for adults with a recorded ASD or ID diagnosis aged 21 and older with any Medicaid fee-for-service claims between January 1, 2008 and December 31, 2018. We assessed enrollment, age, number of visits, and paid amount per year using generalized linear models with a random intercept for each beneficiary. We identified claims for 4,775 autistic adults without ID, 2,738 autistic adults with ID, 14,945 adults with ID, and 3,484 adults with Down syndrome. The age distribution of the diagnostic group with ASD diagnoses was right skewed with a majority of beneficiaries less than age 30. The ASD without ID diagnostic group had the least visits and paid amount per person per year compared to other groups. In each age category, the ASD with ID diagnostic group had the most paid amount per person per year compared to other groups. It is urgent that we identify the health and health service needs of autistic adults from young adulthood through old age. Our findings have implications for ensuring adequate health coverage across the lifespan and highlight the importance of a strong and accessible health care system for autistic people. Autism Res 2019, 00 : 1-10. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Medicaid provides health insurance to disabled people who meet income requirements. We assessed patterns of enrollment and service use among autistic adults and adults with developmental disabilities in Wisconsin Medicaid. We found a consistent influx of new young autistic adults without intellectual disability into the Medicaid system, with fewer visits and lower paid amounts compared to other developmental disability groups. The changing population of autistic people using Medicaid has implications for providing health care to autistic adults in the future.

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22. Sheng GX, Jiang KW. [Research advances in the role of mTOR signaling pathway in autism spectrum disorder]. Zhongguo Dang Dai Er Ke Za Zhi ;2019 (Jul) ;21(7):718-723.

Mammalian target of rapamycin (mTOR) is an intracellular signaling pathway molecule which regulates various fundamental physiological processes. The mTOR signaling pathway plays an important role in synaptic plasticity, information transmission and processing, and neuroregulation. Dysregulation of the mTOR signaling pathway is generally considered to be related to the pathogenesis of autism spectrum disorder (ASD) ; meanwhile, the mTOR inhibitor can ameliorate the symptoms of ASD. The role of mTOR in the pathogenesis of ASD is summarized in this article to provide a theoretical basis for targeted therapy of ASD.

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23. Tye C, Runicles A, Whitehouse AJO, Alvares GA. Corrigendum : Characterizing the Interplay Between Autism Spectrum Disorder and Comorbid Medical Conditions : An Integrative Review. Front Psychiatry ;2019 ;10:438.

[This corrects the article DOI : 10.3389/fpsyt.2018.00751.].

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24. Wolfers T, Floris DL, Dinga R, van Rooij D, Isakoglou C, Kia SM, Zabihi M, Llera A, Chowdanayaka R, Kumar VJ, Peng H, Laidi C, Batalle D, Dimitrova R, Charman T, Loth E, Lai MC, Jones E, Baumeister S, Moessnang C, Banaschewski T, Ecker C, Dumas G, O’Muircheartaigh J, Murphy D, Buitelaar JK, Marquand AF, Beckmann CF. From pattern classification to stratification : towards conceptualizing the heterogeneity of Autism Spectrum Disorder. Neurosci Biobehav Rev ;2019 (Jul 19)

Pattern classification and stratification approaches have increasingly been used in research on Autism Spectrum Disorder (ASD) over the last ten years with the goal of translation towards clinical applicability. Here, we present an extensive scoping literature review on those two approaches. We screened a total of 635 studies, of which 57 pattern classification and 19 stratification studies were included. We observed large variance across pattern classification studies in terms of predictive performance from about 60% to 98% accuracy, which is among other factors likely linked to sampling bias, different validation procedures across studies, the heterogeneity of ASD and differences in data quality. Stratification studies were less prevalent with only two studies reporting replications and just a few showing external validation. In summary, mapping biological differences at the level of the individual with ASD is a major challenge for the field now. Conceptualizing those mappings and individual trajectories that lead to the diagnosis of ASD, will become a major challenge in the near future.

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25. Zhao RH, Zheng PY, Liu SM, Tang YC, Li EY, Sun ZY, Jiang MM. [Correlation between gut microbiota and behavior symptoms in children with autism spectrum disorder]. Zhongguo Dang Dai Er Ke Za Zhi ;2019 (Jul) ;21(7):663-669.

OBJECTIVE : To investigate the composition of gut microbiota and its correlation with the severity of behavior symptoms in children with autism spectrum disorder (ASD). METHODS : A total of 30 children with ASD were enrolled as the ASD group, and 20 healthy children matched for age and sex were enrolled as the healthy control group. Related clinical data were analyzed. The V3-V4 hypervariable regions of the bacterial 16S rRNA gene in fecal samples were sequenced. The severity of behavior symptoms in children with ASD was assessed using the autism behavior checklist. The Spearman’s correlation analysis was used to investigate the correlation between gut microbiota and the severity of behavior symptoms in children with ASD. RESULTS : There was a significant difference in the composition of gut microbiota between the two groups. Compared with the healthy control group, the ASD group had significant reductions in Shannon index and Shannoneven index (P<0.05), as well as a significant reduction in the percentage of Firmicutes and a significant increase in the percentage of Acidobacteria in feces (P<0.05). In the ASD group, the dominant bacteria were Megamonas, Megasphaera, and Barnesiella, while in the healthy control group, the dominant bacteria were Eubacterium_rectale_group, Ezakiella, and Streptococcus. In the children with ASD, the abundance of Megamonas was positively correlated with the scores of health/physical/behavior and language communication (P<0.05). CONCLUSIONS : The development of ASD and the severity of behavior symptoms are closely associated with the composition of gut microbiota.

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