Pubmed du 27/05/19

lundi 27 mai 2019

1. Alfageh BH, Wang Z, Mongkhon P, Besag FMC, Alhawassi TM, Brauer R, Wong ICK. Safety and Tolerability of Antipsychotic Medication in Individuals with Autism Spectrum Disorder : A Systematic Review and Meta-Analysis. Paediatr Drugs ;2019 (May 27)

BACKGROUND : Antipsychotic medication is a commonly prescribed drug class in individuals with autism spectrum disorder (ASD). However, the safety of these agents has not been fully assessed. OBJECTIVE : Our objective was to investigate the safety and tolerability profile of antipsychotics in individuals with ASD. METHODS : The Cochrane Library, MEDLINE, Embase and PsycINFO databases were searched up to January 2018. We included studies that reported adverse events (AEs) in participants with ASD taking first- or second-generation antipsychotic medication. The studies included in the analysis were randomized controlled trials (RCTs) and observational studies that were comparative or noncomparative and published as full text in the English language. The primary outcome of this review was AEs of any severity reported with antipsychotic use at any dose. Meta-analysis was performed on studies with child and adolescent participants to estimate the pooled prevalence of the overall AEs and the relative risk (RR) of AEs associated with antipsychotic use using a random-effects model. The Cochrane Collaboration tool and the modified Newcastle-Ottawa Scale (NOS) were used to assess the risk of bias of the included RCTs and observational studies, respectively. RESULTS : In total, 54 citations fulfilled the inclusion criteria, of which 40 were RCTs and 14 were observational studies ; eight RCTs were included in the meta-analysis to estimate the RR of AEs associated with antipsychotic use and seven observational studies were included to estimate the pooled prevalence of AEs. The RR of AEs with antipsychotic treatment was 22% higher than with placebo (RR 1.22 ; 95% confidence interval [CI] 1.11-1.34 ; I(2) = 30.6% ; p = 0.184). The estimated pooled prevalence of AEs was 50.5% (95% CI 33-67). The most commonly reported AEs were increased appetite and weight gain, which were associated with discontinuation in many participants. CONCLUSION : Antipsychotic-related AEs were common among patients with ASD. Further studies to investigate the implications of antipsychotic-related AEs on health and medication adherence are warranted. PROSPERO registration number : (CRD42018083632).

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2. Ali A, Vasileva S, Langguth M, Alexander S, Cui X, Whitehouse A, McGrath JJ, Eyles D. Developmental Vitamin D Deficiency Produces Behavioral Phenotypes of Relevance to Autism in an Animal Model. Nutrients ;2019 (May 27) ;11(5)

Emerging evidence suggests that gestational or developmental vitamin D (DVD) deficiency is associated with an increased risk of autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder characterized by impairments in social interaction, lack of verbal and non-verbal communications, stereotyped repetitive behaviors and hyper-activities. There are several other clinical features that are commonly comorbid with ASD, including olfactory impairments, anxiety and delays in motor development. Here we investigate these features in an animal model related to ASD-the DVD-deficient rat. Compared to controls, both DVD-deficient male and female pups show altered ultrasonic vocalizations and stereotyped repetitive behavior. Further, the DVD-deficient animals had delayed motor development and impaired motor control. Adolescent DVD-deficient animals had impaired reciprocal social interaction, while as adults, these animals were hyperactive. The DVD-deficient model is associated with a range of behavioral features of interest to ASD.

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3. Angulo-Jimenez H, DeThorne L. Narratives About Autism : An Analysis of YouTube Videos by Individuals Who Self-Identify as Autistic. Am J Speech Lang Pathol ;2019 (May 27) ;28(2):569-590.

Purpose The goal of this study was to expand the field’s understanding of autism through the analysis of 1st-person perspectives from autistic video webloggers (vloggers). Method This study analyzed the representation of autism in 39 YouTube videos authored by self-identified autistic individuals and published between 2007 and 2015. Consistent with the cross-disciplinary tradition of narrative inquiry, thematic analyses of the video transcripts were conducted. Findings Vloggers were predominantly, but not exclusively, White male adults who spoke mainstream American English and self-identified as experiencing Asperger’s syndrome. Key findings included (a) the predominance of a narrative about autism that incorporated features of both the medical model of disability and the neurodiversity paradigm to varying degrees, (b) a trend toward more medical model features across most content areas, and (c) a relatively high prevalence of neurodiversity paradigm features related specifically to language use and the description of autistic traits. Conclusions Implications include the need for clinicians to (a) familiarize themselves with the varying views of autism held within the autistic community, (b) reflect on the language used to talk about autism and listen to how clients and/or their caregivers talk about it, and (c) consider the exploration of potential positive dimensions of autistic traits.

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4. Bangert KJ, Halverson DM, Finestack LH. Evaluation of an Explicit Instructional Approach to Teach Grammatical Forms to Children With Low-Symptom Severity Autism Spectrum Disorder. Am J Speech Lang Pathol ;2019 (May 27) ;28(2):650-663.

Purpose Weaknesses in the use of grammatical forms may reduce the functional use of language for verbally expressive children with autism spectrum disorder (ASD) and exacerbate difficulties with academic and social skill development. This early efficacy study evaluated a combined explicit-implicit instructional approach to teach novel grammatical forms to children with ASD. Method Seventeen children with ASD between the ages of 4 and 10 years who demonstrated weaknesses in expressive grammatical language completed 2 tasks, each targeting a different novel grammatical form. One form was a gender marking, which required the child to modify the verb if the sentence subject was a boy. The other form was a person marking, which required the child to modify the verb if the sentence subject was the 1st person, "I." Each form was targeted using implicit-only instruction or combined explicit-implicit instruction. With implicit-only instruction, the examiner presented models and recasts of the targeted form. With explicit-implicit instruction, the examiner presented the rule guiding the form as well as models and recasts. Learning was assessed during each of 4 treatment sessions and after a 1-week delay in 2 contexts. Results For the gender target form, significantly more children reliably produced the target form with explicit-implicit instruction (chi(2) = 4.10, p = .04). For the person target form, the difference in instruction was not statistically significant. Task performance revealed a positive association with receptive language skills, but not age, nonverbal intelligence, or severity of autism-related behaviors for the person form. Conclusion This study provides preliminary evidence that expressively verbal children with low-symptom severity ASD can successfully learn novel grammatical forms with intervention that comprises both explicit and implicit instruction.

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5. Bertoncelli CM, Altamura P, Vieira ER, Bertoncelli D, Latalski M, Berthet S, Solla F. Predictive Model for Gastrostomy Placement in Adolescents With Developmental Disabilities and Cerebral Palsy. Nutr Clin Pract ;2019 (May 27)

BACKGROUND : Factors associated with gastrostomy placement in adolescents with developmental disabilities (DDs) and cerebral palsy (CP) are poorly investigated. We aimed to develop and validate a machine learning (ML) model for gastrostomy placement in adolescents with DDs and CP. METHODS : We performed a multinational, double-blinded, case-control study including 130 adolescents with severe DD and CP (72 males, 58 females ; mean age 16 +/- 2 years). Data on etiology, diagnosis, spasticity, epilepsy, clinical history, and functional assessments such as the Eating and Drinking Ability Classification System, Manual Ability Classification System, and Gross Motor Function Classification System were collected between 2005 and 2015. Analysis included Fisher exact test, multiple logistic regressions, and a supervised ML model, named PredictMed, to identify factors associated with gastrostomy placement. "Transparent Reporting of a multivariable prediction model for Individual Prognosis or Diagnosis" guidelines were followed. RESULTS : Poor motor function (P < 0.001), trunk muscle tone disorder (P < 0.001), male gender (P < 0.01), epilepsy (P = 0.01), and severe neuromuscular scoliosis (P = 0.04) were factors linked with gastrostomy placement in univariate analysis. Epilepsy (P = 0.03), poor motor function (P = 0.04), and male gender (P = 0.04) were associated with gastrostomy placement in multivariate analysis with 95% accuracy. CONCLUSION : Epilepsy, poor motor function, trunk muscles tone disorder, and male gender were accurate, sensitive, and specific factors associated with gastrostomy need.

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6. Biller MF, Johnson CJ. Social-Cognitive and Speech Sound Production Abilities of Minimally Verbal Children With Autism Spectrum Disorders. Am J Speech Lang Pathol ;2019 (May 27) ;28(2):377-393.

Purpose To date, there has been a dearth of systematic research that examines both social-cognitive (SC) and speech sound production (SSP) abilities simultaneously in minimally verbal (MV) children with autism spectrum disorders (ASDs). Such an analysis would allow a unified and comprehensive view of the children’s communication abilities. The purpose of this study was to develop detailed descriptive profiles of MV children with ASD and uncover patterns in their SC and SSP abilities that may pertain to spoken language. Method This study was a descriptive, multiple clinical case study that examined 5 MV children with ASD, 4 boys and 1 girl, aged 3-6 years. The case studies consisted of demographic information, parent report, and formal and informal assessment of the children. Four SC abilities and 3 SSP abilities were assessed. Results The 5 children’s SC score, SSP score, and number of spoken words were converted to z scores. This analysis revealed 2 different patterns of development : 3 of the children had lower SC than SSP abilities, and 2 of the children had the reverse pattern. Conclusions The 5 children were low in both SC and SSP abilities. Although both domains were low, the measure that coincided most with spoken vocabulary among the 5 children was their SSP abilities. Specifically, the children had difficulty in demonstrating emerging control of the onset of voicing for specific speech sounds and verbal imitation of single speech sounds and syllables. Clinical implications of simultaneously assessing and treating SC and SSP abilities in MV children are discussed.

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7. Bozkurt G, Uysal G, Duzkaya DS. Examination of care burden and stress coping styles of parents of children with Autism Spectrum Disorder. J Pediatr Nurs ;2019 (May 27) ;47:142-147.

OBJECTIVE : The study was conducted to examine the caregiver burden and stress coping styles of parents of children with Autism Spectrum Disorder (ASD). DESIGN AND METHODS : This descriptive cross-sectional study was conducted with parents of 131 children with ASD who were enrolled in a private education practice center in Istanbul between August 2015 and August 2016. The data were collected using a questionnaire prepared by the researchers, and the "Caregiver Strain Index" and "Ways of Coping Questionnaire." RESULTS : The mean age of the children in the sample group was 4.83+/-0.99years ; 63.4% were boys. Nearly 40% (38.2%) were diagnosed as having ASD at the age of 2years. It was determined that the parents of children with ASD had a higher burden of care (CSI mean score : 7.68+/-4.30). The caregiver burden was significantly higher (p<0.05) for parents of one child as compared to parents with more children, and parents with daughters compared to parents with sons. In addition, the mothers were found to have higher scores of ’submissive approach’ and ’seeking social support’ than fathers. CONCLUSION : Parents of children with ASD had a higher caregiver burden. Scores of approach types of self-confident, helpless, optimistic, and seeking social support were significant predictors of caregiver burden. PRACTICE IMPLICATIONS : Nurses are encouraged to take a more active role to improve the health of children with autism and families should contribute to mitigating the burden care of parents by informing families about social support systems.

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8. Chadman KK, Fernandes S, DiLiberto E, Feingold R. Do animal models hold value in Autism spectrum disorder (ASD) drug discovery ?. Expert Opin Drug Discov ;2019 (May 27):1-8.

Introduction : Autism spectrum disorder (ASD) defines impairments in a broad range of behaviors in two domains, social communication and repetitive behaviors and/or restricted interests. Drug discovery is ongoing for ASD, but no drugs have been approved for the core behaviors. Animal models are invaluable for drug discovery, but are limited by the face, construct, and predictive validity for ASD. The genetic construct validity of animal models has provided potential targets including biological events early in development which are indeed challenging to treat pharmacologically. Areas covered : The focus of this review is on the current models for ASD being used to test potential therapeutics. Drugs reviewed include sulforaphane, propranolol, oxytocin, vasopressin antagonists, arbaclofen, and bumetanide, that have been evaluated on behaviors with face validity for both the core behaviors of ASD, social and repetitive behaviors, and the modifying behaviors including learning and memory. Expert opinion : Animal models for the core symptoms of ASD have suffered from the same problems hampering research in humans, including lack of a biomarker, heterogeneity of symptom severity, and appropriate endpoints for evaluation. Despite this, the data from animal models has allowed several drugs to move on to clinical testing.

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9. DeCarlo J, Bean A, Lyle S, Paden Miller Cargill L. The Relationship Between Operational Competency, Buy-In, and Augmentative and Alternative Communication Use in School-Age Children With Autism. Am J Speech Lang Pathol ;2019 (May 27) ;28(2):469-484.

Purpose The objective of this study was to investigate the relationship between 2 variables that influence augmentative and alternative communication (AAC) use, caregiver operational competency (i.e., the ability to navigate, customize, and program the device), and AAC system buy-in (i.e., understanding that the device acts as the child’s voice and should be treated as an extension of his or her physical body), to determine if there was a relationship between these variables and device use at home and at school in school-age children with autism who use AAC. Method The device use of 29 school-age children ( M age = 7.82 years) with an educational diagnosis of autism who use AAC was tracked using the logging feature on the participants’ AAC devices. Participants’ parents ( n = 29) and teachers ( n = 14, some teachers reported on multiple students) completed a questionnaire assessing caregiver operational competency and AAC system buy-in. Minutes of data use were extracted from each participant’s AAC device ( Cross & Segalman, 2016 ) and averaged across three randomly selected dates. Results The parents and teachers reported high rates of operational competency and buy-in. However, only 10 of the children used their devices at home during the weekends. Despite high rates of parent- and teacher-reported operational competency, participants did not use their devices at high rates. Conclusion Speech-language pathologists may also need to focus on other aspects of parent and teacher training, such as creating communication opportunities for students who use AAC to increase device use at home and at school.

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10. Feldman I, Koller J, Lebowitz ER, Shulman C, Ben Itzchak E, Zachor DA. Family Accommodation in Autism Spectrum Disorder. J Autism Dev Disord ;2019 (May 27)

Family accommodation occurs frequently among families of children with OCD and anxiety disorders, with higher levels of accommodation repeatedly associated with greater symptom severity, lower functioning, and poorer treatment outcomes for children. This is the first examination of family accommodation of restricted and repetitive behaviors (RRBs) in children with autism spectrum disorder (ASD). Parents of children with ASD (N = 86) completed questionnaires assessing their children’s RRBs and parental accommodation of these symptoms. Most participants (80%) reported engaging in accommodation at least once a month and family accommodation was significantly positively correlated with RRB severity. These results suggest accommodation of RRBs follows a pattern similar to that reported in obsessive compulsive and anxiety disorders, and highlight avenues for potential parent-based interventions.

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11. LaClair M, Mandell DS, Dick AW, Iskandarani K, Stein BD, Leslie DL. The effect of Medicaid waivers on ameliorating racial/ethnic disparities among children with autism. Health Serv Res ;2019 (May 27)

OBJECTIVE : To examine the effects of Medicaid Home and Community-based Services (HCBS) waivers on reducing racial/ethnic disparities in unmet need for services among families of children with autism spectrum disorder (ASD). DATA SOURCES : Data from the 2003, 2007, and 2011 waves of the National Survey of Children’s Health and the 2005 and 2010 waves of the National Survey of Children with Special Health Care Needs were used. Data on waiver characteristics were collected from source materials that were submitted in support of each state’s waiver application. Waiver characteristics were combined to create a single waiver generosity variable. STUDY DESIGN : Quasi-difference-in-difference-in-difference models were used to determine the effect of waiver generosity on racial/ethnic disparities in unmet need among children with ASD. PRINCIPAL FINDINGS : Increased waiver generosity was associated with significantly reduced odds of having unmet need for black children with ASD compared with white children with ASD. Unmet needs among black children with ASD were roughly cut in half, a 13 percentage point decrease, with the implementation of an average generosity waiver. No significant differences were seen for Hispanic ethnicity. CONCLUSION : These findings suggest that Medicaid HCBS waivers have the potential to ameliorate disparities in unmet need among children with ASD. Future policy development should focus on replicating the most effective characteristics of these waivers.

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12. Mariscal MG, Oztan O, Rose SM, Libove RA, Jackson LP, Sumiyoshi RD, Trujillo TH, Carson DS, Phillips JM, Garner JP, Hardan AY, Parker KJ. Blood oxytocin concentration positively predicts contagious yawning behavior in children with autism spectrum disorder. Autism Res ;2019 (May 27)

Research suggests that children with autism spectrum disorder (ASD) may have reduced empathy, as measured by an impaired contagious yawn response, compared to typically developing (TD) children. Other research has failed to replicate this finding, instead attributing this phenomenon to group differences in attention paid to yawn stimuli. A third possibility is that only a subgroup of children with ASD exhibits the impaired contagious yawn response, and that it can be identified biologically. Here we quantified blood concentrations of the "social" neuropeptide oxytocin (OXT) and evaluated yawning behavior and attention rates during a laboratory task in children with ASD (N = 34) and TD children (N = 30) aged 6-12 years. No group difference in contagious yawning behavior was found. However, a blood OXT concentration x group (ASD vs. TD) interaction positively predicted contagious yawning behavior (F1,50 = 7.4987 ; P = 0.0085). Specifically, blood OXT concentration was positively related to contagious yawning behavior in children with ASD, but not in TD children. This finding was not due to delayed perception of yawn stimuli and was observed whether attention paid to test stimuli and clinical symptom severity were included in the analysis or not. These findings suggest that only a biologically defined subset of children with ASD exhibits reduced empathy, as measured by the impaired contagious yawn response, and that prior conflicting reports of this behavioral phenomenon may be attributable, at least in part, to variable mean OXT concentrations across different ASD study cohorts. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : People with autism may contagiously yawn (i.e., yawn in response to another’s yawn) less often than people without autism. We find that people with autism who have lower levels of blood oxytocin (OXT), a hormone involved in social behavior and empathy, show decreased contagious yawning, but those who have higher blood OXT levels do not differ in contagious yawning from controls. This suggests that decreased contagious yawning may only occur in a biologically defined subset of people with autism.

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13. McKenzie R, Dallos R, Stedmon J, Hancocks H, Vickery PJ, Ewings P, Barton A, Vassallo T, Myhill C. SAFE, a new therapeutic intervention for families of children with autism : study protocol for a feasibility randomised controlled trial. BMJ Open ;2019 (May 27) ;9(5):e025006.

INTRODUCTION : Incidence of autistic traits, mental health problems, stress and poor coping is high among family members of children with autism. These problems are coupled with challenging behaviour among children with autism. Current treatment for these families is disjointed and costly. The need for whole family support is supported by the National Institute for Health and Care Excellence recommendations, developments regarding children’s service provision, research and requests by families of children with autism. Despite evidence that family therapies can provide benefits to these families, efficacy has not been subject to a randomised controlled trial. Systemic Autism-related Family Enabling (SAFE) is a new family therapy intervention designed specifically for families of children with autism. We aim to establish the feasibility of running a fully powered randomised controlled trial to evaluate SAFE. METHODS AND ANALYSIS : Families of children with autism aged 3-16 years will be invited to participate. Consenting participants will be randomised 2:1 to either SAFE+support as usual or support as usual alone. The proposed primary outcome measure for the main trial will be the Systemic CORE 15. Participants will also complete proposed secondary outcome measures, indexing changes in child behaviour, child-parent attachment, anxiety and depression. Generic health economic outcome measures (EuroQol 5 dimensions and Child Health Utility 9 Dimensions) will also provide data on the feasibility of cost-effectiveness analysis. Questionnaires will be completed at baseline and 32 weeks post-allocation. Data on ability to identify, recruit, randomise, retain and collect data from families, acceptability of outcome measures, adherence of therapists and families to the intervention, appropriateness of resource use questionnaires and effectiveness of training will be collected for feasibility analysis. Qualitative data will also explore acceptability of SAFE and reasons for declining and withdrawing from the study. ETHICS AND DISSEMINATION : The current trial protocol received ethical approval from the South West-Exeter Research Ethics Committee (Ref : 17/SW/0192). The findings of the trial will be disseminated in collaboration with our Family Consultation Group and other partners. Findings will be shared locally, nationally and internationally through events, conferences and published papers. TRIAL REGISTRATION NUMBER : ISCTRN83964946 (Pre-results) IRAS 213527.

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14. Paulus FW, Sander CS, Nitze M, Kramatschek-Pfahler AR, Voran A, von Gontard A. Gaming Disorder and Computer-Mediated Communication in Children and Adolescents with Autism Spectrum Disorder. Z Kinder Jugendpsychiatr Psychother ;2019 (May 27):1-10.

Background : This study investigates how children and adolescents with autism spectrum disorder (ASD) make use of computer gaming and computer-mediated communication (CMC) in comparison to their nonautistic peers. Method : Parents filled out a standardized questionnaire on media use, gaming disorder (GD), and CMC. Sixty-two boys with a diagnosis of ASD aged 4 to 17 years (mean = 11.5 ; SD = 3.2) were compared to 31 healthy control boys (mean = 11.5 ; SD = 3.7). Results : Children and adolescents with ASD used CMC less frequently than their nonautistic peers but played video games for longer times than the controls. They preferred playing alone rather than in company of others and less frequently in multiplayer mode. Levels of GD symptoms were higher in boys with ASD. Conclusions : Children and adolescents with ASD seem to be an especially vulnerable subpopulation for GD. For them, the gaming situation (alone and in single-player mode) and CMC behavior seem to correspond to social patterns in real life. Our findings also provide support for the inclusion of offline gaming in the GD definition.

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15. Puli A, Kushki A. Towards Automatic Anxiety Detection in Autism : A Real-Time Algorithm for Detecting Physiological Arousal in the Presence of Motion. IEEE Trans Biomed Eng ;2019 (May 27)

OBJECTIVE : Anxiety is a significant clinical concern in autism spectrum disorder (ASD) due to its negative impact on physical and psychological health. Treatment of anxiety in ASD remains a challenge due to difficulties with self-awareness and communication of anxiety symptoms. To reduce these barriers to treatment, physiological markers of autonomic arousal, collected through wearable sensors, have been proposed as real-time, objective, and language-free measures of anxiety. A critical limitation of existing anxiety detection systems is that physiological arousal is not specific to anxiety and can occur with other user states such as physical activity. This can result in false positives which can hinder the operation of these systems in real-world situations. The objective of this work was to address this challenge by proposing an approach for real-time detection and mitigation of physical activity effects. METHODS : A novel multiple model Kalman-like filter is proposed to integrate heart rate and accelerometry signals. The filter tracks user heart rate under different motion assumptions, and chooses the appropriate model for anxiety detection based on user motion conditions. RESULTS : Evaluation of the algorithm using data from a sample of children with ASD shows a significant reduction in false positives compared to the state-of-the-art, and an overall arousal detection accuracy of 93%. CONCLUSION : The proposed method is able to reduce false detections due to user motion, and effectively detect arousal states during movement periods. SIGNIFICANCE : The results add to the growing evidence supporting the feasibility of wearable technologies for anxiety detection and management in naturalistic settings.

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16. Roy P, Chiat S. The Early Sociocognitive Battery : a clinical tool for early identification of children at risk for social communication difficulties and ASD ?. Int J Lang Commun Disord ;2019 (May 27)

BACKGROUND : A substantial proportion of preschool children referred to speech and language therapy (SLT) services have social communication difficulties and/or autistic spectrum disorders (SC&/ASD) that are not identified until late childhood. These ’late’ diagnosed children miss opportunities to benefit from earlier targeted interventions. Prior evidence from a follow-up clinical sample showed that preschool performance on the Early Sociocognitive Battery (ESB) was a good predictor of children with social communication difficulties 7-8 years later. AIMS : The aims were three-fold : (1) to determine the impact of child/demographic factors on ESB performance in a community sample of young children ; (2) to assess the ESB’s concurrent validity and test-retest reliability ; and (3) to use cut-offs for ’low’ ESB performance derived from the community sample data to evaluate in a clinical sample the predictiveness of the ESB at 2-4 years for outcomes at 9-11 years, including parent-reported SC&/ASD diagnosis. METHODS & PROCEDURES : A community sample of 205 children aged 2-4 years was assessed on the ESB and a receptive vocabulary test. A subsample (n = 20) was retested on the ESB within 2 weeks. Parents completed a questionnaire providing background child/demographic information. The clinical sample from our previous study comprised 93 children assessed on the ESB at 2 ;6 to < 4 ;0 whose parents completed the Social Responsiveness Scale (SRS), our measure of social communication, when the children were 9-11 years. Cut-offs for ’low’ ESB performance derived from the community sample were used to determine the predictive validity of ’low’ ESB scores for social communication outcomes and parent-reported SC&/ASD diagnosis according to age of ESB assessment. OUTCOME & RESULTS : Findings from the community sample confirmed the ESB as psychometrically robust, sensitive to age and language delay, and, in contrast to the receptive vocabulary measure, unaffected by bilingualism. While overall associations between ESB performance and later social communication difficulties in the clinical sample were particularly strong for the youngest age group (2 ;6 to < 3 ;0 ; r = .71, p < .001), ’low’ ESB performance was equally predictive across age groups and overall identified 89% of children with ’late’ SC&/ASD diagnoses (sensitivity), and 75% of those without (specificity). CONCLUSIONS & IMPLICATIONS : Results indicate that the ESB is a valid preschool assessment suitable for use with children from diverse language backgrounds. It identifies deficits in key sociocognitive skills and is predictive of social communication difficulties in school-age children that had not been identified in preschool clinical assessment, supporting earlier targeted interventions for these children.

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17. Wright BM, Benigno JP. Autism Spectrum Disorder and Sibling Relationships : Exploring Implications for Intervention Using a Family Systems Framework. Am J Speech Lang Pathol ;2019 (May 27) ;28(2):759-767.

Purpose There is currently a very limited scope of research in the field of speech-language pathology on sibling involvement in the treatment of children with autism spectrum disorder (ASD). Principles of family systems theory (FST) recognize the interrelatedness and dynamic nature of the family unit, making it a relevant and useful guiding framework for future research and practice on sibling involvement in intervention. Method In this article, core principles of FST are reviewed, followed by the state of research related to sibling relationships in ASD, and roles of typically developing siblings and siblings with ASD in intervention programs. Implications for adopting an FST framework as well as considerations and future directions in this area of research and clinical practice are discussed. Results According to the principles of FST on the inclusion of siblings in treatment, there are several considerations to be made at the level of the child with ASD, the sibling(s), and the family unit. Factors such as developmental level, communication status, and areas of strength, challenge, and interest are key features of the children and family that will need to be addressed in order to promote positive sibling involvement and family functioning. Conclusions The development of family-centered sibling intervention programs for individuals with ASD is an area of research that warrants further exploration. With the guidance of the FST framework, researchers and clinicians can work to develop innovative interventions that consider the unique characteristics of each family to optimize outcomes at the levels of each individual, the sibling relationship, and the family as a unit.

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18. Yao W, Huang J, He H. Over-expressed LOC101927196 suppressed oxidative stress levels and neuron cell proliferation in a rat model of autism through disrupting the Wnt signaling pathway by targeting FZD3. Cell Signal ;2019 (May 27)

Accumulating evidence indicates that long non-coding RNAs (lncRNAs) play an important role in autism. Herein, we delineated the functions of LOC101927196 and its potential mitigation effect on a rat model of autism. We retrieved various bioinformatics databases and websites to screen differentially expressed lncRNAs associated with autism. Next, a rat model of autism was established with the neuron cells extracted for transfection of different plasmids. The regulatory effect of LOC101927196 on neuron cell proliferation, apoptosis as well as oxidative stress was also investigated. Firstly, microarray dataset GSE18123 revealed that LOC101927196 was poorly expressed in a rat model of autism. Poor development and growth and oxidative stress disorder were also observed in a rat model of autism. In addition, LOC101927196 targeting FZD3 played a vital role in a rat model of autism through the Wnt signaling pathway. Furthermore, we further demonstrated that over-expressed LOC101927196 blocked neuron cell proliferation and reduced oxidative stress levels, while promoting apoptosis by suppressing the activation of the Wnt signaling pathway. Our findings illustrate that up-regulated LOC101927196 attenuated oxidative stress disorder in a rat model of autism through suppressing the activation of Wnt signaling pathway by targeting FZD3.

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19. Zhou J, Park CY, Theesfeld CL, Wong AK, Yuan Y, Scheckel C, Fak JJ, Funk J, Yao K, Tajima Y, Packer A, Darnell RB, Troyanskaya OG. Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk. Nat Genet ;2019 (May 27)

We address the challenge of detecting the contribution of noncoding mutations to disease with a deep-learning-based framework that predicts the specific regulatory effects and the deleterious impact of genetic variants. Applying this framework to 1,790 autism spectrum disorder (ASD) simplex families reveals a role in disease for noncoding mutations-ASD probands harbor both transcriptional- and post-transcriptional-regulation-disrupting de novo mutations of significantly higher functional impact than those in unaffected siblings. Further analysis suggests involvement of noncoding mutations in synaptic transmission and neuronal development and, taken together with previous studies, reveals a convergent genetic landscape of coding and noncoding mutations in ASD. We demonstrate that sequences carrying prioritized mutations identified in probands possess allele-specific regulatory activity, and we highlight a link between noncoding mutations and heterogeneity in the IQ of ASD probands. Our predictive genomics framework illuminates the role of noncoding mutations in ASD and prioritizes mutations with high impact for further study, and is broadly applicable to complex human diseases.

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