Pubmed du 09/08/19

vendredi 9 août 2019

1. Bou Khalil R. The growth factors/neuropeptides axis in the pathogenesis of autism spectrum disorder and schizophrenia. Asian J Psychiatr ;2019 (Jul 30) ;44:170-171.

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2. Fenning RM, Erath SA, Baker JK, Messinger DS, Moffitt J, Baucom BR, Kaeppler AK. Sympathetic-Parasympathetic Interaction and Externalizing Problems in Children with Autism Spectrum Disorder. Autism Res ;2019 (Aug 9)

Children with autism spectrum disorder (ASD) exhibit significant difficulties with emotion regulation and reactivity, which may be linked to underlying psychophysiology. The present study examined associations between autonomic nervous system activity and individual differences in externalizing behavior problems in children with ASD. A multisystem approach was adopted to consider the interplay between markers of sympathetic (electrodermal reactivity-EDA-R) and parasympathetic reactivity (respiratory sinus arrhythmia reactivity-RSA-R) in relation to behavioral challenges. Fifty-two children with ASD ages 6-10 years contributed complete psychophysiological data. Measures of EDA-R and RSA-R (RSA withdrawal) were obtained in response to a laboratory challenge task and parents reported on child externalizing behavior problems using a standardized questionnaire and a structured clinical interview. An equifinality model was supported, with two distinct psychophysiological pathways linked to heightened externalizing behavior problems. Greater RSA-R was associated with more externalizing problems in the context of higher levels of EDA-R, and lower EDA-R was associated with increased externalizing problems at lower levels of RSA-R. Findings underscore the importance of considering the role of psychophysiology in the unfolding of comorbid externalizing problems in children with ASD. Potential implications for tailoring coregulatory supports are discussed. Autism Res 2019, 00 : 1-15. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Children with autism spectrum disorder (ASD) exhibit elevated rates of challenging behavior. This study identified specific psychophysiological profiles (low sympathetic-low parasympathetic reactivity, and high sympathetic-high parasympathetic reactivity) that may place these children at greater risk for behavior problems. Findings have implications for better understanding behavioral challenges in children with ASD, and for tailoring supports to address underlying psychophysiology.

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3. Herbrecht E, Lazari O, Notter M, Schmeck K, Spiegel R. Process research in early intensive intervention in autism spectrum disorder : Sensitivity to change of the autism behavior coding system. Autism Res ;2019 (Aug 9)

The development of sensitive measures to capture changes in core autism symptoms is crucial in early intervention research. The study examines the sensitivity to change of the Autism Behavior Coding System (ABCS), a video-based instrument to assess core autism symptoms during therapist-child interaction. Video sequences of 40 young children treated in the Fruhintervention bei Autistischen Storungen center were analyzed with regard to the question of whether short-term changes during an 18 day period of early intervention could be captured, and whether these results are reflected in an independent clinical assessment (Developmental Disorders-Child-Global Assessment Scale [DD-C-GAS]). ABCS results showed statistically significant improvements on behavioral domains such as "expression of wishes" and "social cooperative behavior" (P < 0.01), less pronounced on "eye contact." Improvements on the DD-C-GAS were highly significant on all subdomains. Both scales showed high correlations within their subdomains, yet no significant correlations between the changes in both instruments’ scores were found. An additional analysis between the DD-C-GAS scores at day 18 and the changes in the ABCS scores showed statistically significant associations in the expected direction between the changes in the variable "eye contact" and all DD-C-GAS subdomains. The correspondence of the two levels of assessment is low, but the specifics of this relationship deserve further study. The ABCS may prove useful in addition to standard assessment tools, especially in early intervention research settings, as it allows reliable analysis of core behavioral elements in young children with autism. Autism Res 2019, 00 : 1-12. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY : The study examined the sensitivity of an autism-specific video coding system (ABCS) in assessing changes after an 18 day period of intensive early intervention. Video sequences of therapist-child-interaction of 40 young children with autism spectrum disorder (ASD) were analyzed. Children’s behavior improved in expression of wishes, social cooperativity and eye contact. A therapist-based global assessment scale also showed important improvement after 18 days, yet both assessment instruments showed weak correlations between their respective changes. We showed that the ABCS may prove useful in capturing short-term changes in autism-related behaviors, especially in early intervention research.

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4. Ignaszewski MJ, Munshi K, Fogler J, Augustyn M. Transitions, Suicidality, and Underappreciated Autism Spectrum Disorder in a High School Student. J Dev Behav Pediatr ;2019 (Aug 1)

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5. Kernohan KD, McBride A, Hartley T, Rojas SK, Dyment DA, Boycott KM, Dyack S. p21 protein-activated kinase 1 (PAK1) is associated with severe regressive autism, and epilepsy. Clin Genet ;2019 (Aug 7)

The PAK family of proteins function as key effectors of RHO family GTPases in mammalian cells to regulate many pathways including Ras/Raf/MEK/ERK and Wnt/beta-catenin, amongst others. Here we report an individual with a novel autosomal dominant disorder characterized by severe regressive autism, intellectual disability, and epilepsy. Exome sequencing of the proband and her parents revealed a de novo variant in the PAK1 gene ([NM_001128620] c.362C > T/p.Pro121Leu). Studies in patient cells demonstrated a clear effect on PAK1 protein function, including altered phosphorylation of targets (JNK and ERK), decreased abundance of beta-catenin, and concomitant altered expression downstream of these key regulators. Our findings add PAK1 to the list of PAK proteins and kinases which when mutated cause rare genetic diseases. This article is protected by copyright. All rights reserved.

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6. Kim JW, Park K, Kang RJ, Gonzales EL, Oh HA, Seung H, Ko MJ, Cheong JH, Chung C, Shin CY. Gene-environment interaction counterbalances social impairment in mouse models of autism. Sci Rep ;2019 (Aug 7) ;9(1):11490.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive/restricted behaviors. Although gene-environment interactions may explain the heterogeneous etiology of ASD, it is still largely unknown how the gene-environment interaction affects behavioral symptoms and pathophysiology in ASD. To address these questions, we used Cntnap2 knockout mice (genetic factor, G) exposed to valproic acid during embryonic development (environmental factor, E) as a gene-environment interaction (G x E) model. Paradoxically, the social deficits observed in the respective G and E models were improved in the G x E model ; however, the high seizure susceptibility was more severe in the G x E -model than in the G and E models. Repetitive self-grooming and hyperactivity did not differ among the three models. The amplitudes of miniature excitatory postsynaptic currents in layer 2/3 pyramidal neurons of the medial prefrontal cortex were aberrant and similar in the G x E model when compared to the control group. Our findings suggest that the interaction of two risk factors does not always aggravate ASD symptoms but can also alleviate them, which may be key to understanding individual differences in behavioral phenotypes and symptom intensity.

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7. Kokol P, Vosner HB, Zavrsnik J, Vermeulen J, Shohieb S, Peinemann F. Serious game-based intervention for children with developmental disabilities. Curr Pediatr Rev ;2019 (Aug 8)

BACKGROUND : Children with developmental disabilities may need support with motor skills such as balance improvement, cognitive skills such as vocabulary learning, or social skills such as adequate interpretation of emotional expressions. Digital interactive games could support the standard treatments. We aimed to review clinical studies which investigated the application of serious games in children with developmental disabilities. METHOD : We searched MEDLINE and Scopus on 05 May 2019 limited to English language. We included people between two and 24 years of age who were affected by neurodevelopmental disorders who received digital serious game-based medical interventions such as any computer-based or video-based games. We considered any study design reporting primary data. We used title, abstract, and full-text of journal articles to build diagnostic groups, and we described some selected specific game applications. RESULTS : The majority of the 145 relevant studies reported on autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), developmental coordination disorder (DCD), and disabilities affecting intellectual abilities (DAIA). 30 of the 145 studies reported a randomized design. We detailed six specific applications aimed at improving abilities in children with ASD, ADHD, cerebral palsy, and Down syndrome. We visualized the diagnostic groups by bibliographic mapping, and we limited the text to the title and abstract of journal articles. CONCLUSION : We identified promising results regarding anxiety reduction, stress regulation, emotion recognition, and rehabilitation. Currently, there appears to be a lack of clinical evidence that children with neurodevelopmental disorders can benefit from the application of serious games.

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8. Monteiro S, Pinto J, Mira Coelho A, Leao M, Doria S. Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders. Neuropediatrics ;2019 (Aug 9)

BACKGROUND : Autism spectrum disorders (ASD) affect many children with an estimated prevalence of 1%. Array-comparative genomic hybridization (CGH) offers significant sensitivity for the identification of submicroscopic chromosomal abnormalities and it is one of the most used techniques in daily practice. The main objective of this study was to describe the usefulness of array-CGH in the etiologic diagnosis of ASD. METHODS : Two-hundred fifty-three patients admitted to a neurogenetic outpatient clinic and diagnosed with ASD were selected for array-CGH (4 x 180K microarrays). Public databases were used for classification in accordance with the American College of Medical Genetics Standards and Guidelines. RESULTS : About 3.56% (9/253) of copy number variations (CNVs) were classified as pathogenic. When likely pathogenic CNVs were considered, the rate increased to 11.46% (29/253). Some CNVs apparently not correlated to the ASD were also found. Considering a phenotype-genotype correlation, the patients were divided in two groups. One group according to previous literature includes all the CNVs related to ASDs (23 CNVs present in 22 children) and another with those apparently not related to ASD (10 CNVs present in 7 children). In 18 patients, a next-generation sequencing (NGS) panel were performed. From these, one pathogenic and 16 uncertain significance variants were identified. CONCLUSION : The results of our study are in accordance with the literature, highlighting the relevance of array-CGH in the genetic of diagnosis of ASD population, namely when associated with other features. Our study also reinforces the need for complementarity between array-CGH and NGS panels or whole exome sequencing in the etiological diagnosis of ASD.

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9. Okyere C, Aldersey HM, Lysaght R. The experiences of children with intellectual and developmental disabilities in inclusive schools in Accra, Ghana. Afr J Disabil ;2019 ;8:542.

Background : Inclusive education is internationally recognised as the best strategy for providing equitable quality education to all children. However, because of the unique challenges they often present, children with intellectual and developmental disabilities (IDDs) are often excluded from inclusive schools. To date, limited research on inclusion has been conducted involving children with IDD as active participants. Objectives : The study sought to understand the experiences of children with IDDs in learning in inclusive schools in Accra, Ghana. Method : A qualitative descriptive design was utilised with 16 children with IDDs enrolled in inclusive schools in Accra, Ghana. Participants were recruited through purposive sampling and data were collected using classroom observations, the draw-and-write technique and semi-structured interviews. The data were analysed to identify themes as they emerged. Results : Children’s experiences in inclusive schools were identified along three major themes : (1) individual characteristics, (2) immediate environments and (3) interactional patterns. Insights from children’s experiences reveal that they faced challenges including corporal punishment for slow performance, victimisation and low family support relating to their learning. Conclusion : Although children with IDDs receive peer support in inclusion, they experience diverse challenges including peer victimisation, corporal punishment and low family and teacher support in their learning. Improvement in inclusive best practices for children with IDD requires systematic efforts by diverse stakeholders to address identified challenges.

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10. Sukhodolsky DG, Lecavalier L, Johnson C, Smith T, Swiezy N, Bearss K, Kalvin CB, Scahill L. Anxiety in 3- to 7-year-old children with autism spectrum disorder seeking treatment for disruptive behavior. Autism ;2019 (Aug 7):1362361319866561.

Anxiety is a common and impairing problem in children with autism spectrum disorder, but little is known about it in preschool children with autism spectrum disorder. This article reports on the characteristics of anxiety symptoms in young children with autism spectrum disorder using a parent-completed rating scale. One hundred and eighty children (age 3-7 years) participated in a clinical trial of parent training for disruptive behaviors. Anxiety was measured as part of pre-treatment subject characterization with 16 items from the Early Childhood Inventory, a parent-completed scale on child psychiatric symptoms. Parents also completed other measures of behavioral problems. Sixty-seven percent of children were rated by their parents as having two or more clinically significant symptoms of anxiety. There were no differences in the Early Childhood Inventory anxiety severity scores of children with IQ < 70 and those with 70. Higher levels of anxiety were associated with severity of oppositional defiant behavior and social disability. Anxiety symptoms are common in preschoolers with autism spectrum disorder. These findings are consistent with earlier work in school-age children with autism spectrum disorder. There were no differences in anxiety between children with IQ below 70 and those with IQ of 70 and above. Social withdrawal and oppositional behavior were associated with anxiety in young children with autism spectrum disorder.

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11. Yang G, Shcheglovitov A. Probing disrupted neurodevelopment in autism using human stem cell-derived neurons and organoids : an outlook into the future diagnostics and drug development. Dev Dyn ;2019 (Aug 9)

Autism spectrum disorders (ASDs) represent a spectrum of neurodevelopmental disorders characterized by impaired social interaction, repetitive or restrictive behaviors, and problems with speech. According to a recent report by the Centers for Disease Control and Prevention, one in 68 children in the US is diagnosed with ASDs. Although ASD-related diagnostics and the knowledge of ASD-associated genetic abnormalities have improved in recent years, our understanding of the cellular and molecular pathways disrupted in ASD remains very limited. As a result, no specific therapies or medications are available for individuals with ASDs. In this review, we describe the neurodevelopmental processes that are likely affected in the brains of individuals with ASDs and discuss how patient-specific stem cell-derived neurons and organoids can be used for investigating these processes at the cellular and molecular levels. Finally, we propose a discovery pipeline to be used in the future for identifying the cellular and molecular deficits and developing novel personalized therapies for individuals with idiopathic ASDs. This article is protected by copyright. All rights reserved.

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12. Yang YC, Lu L, Jeng SF, Tsao PN, Cheong PL, Li YJ, Wang SY, Huang HC, Wu YT. Multidimensional Developments and Free-Play Movement Tracking in 30- to 36-Month-Old Toddlers With Autism Spectrum Disorder Who Were Full Term. Phys Ther ;2019 (Aug 8)

BACKGROUND : Few studies have investigated multidimensional developments and free-play movement performance in toddlers with an early diagnosis of autism spectrum disorder (ASD). OBJECTIVE : This study compared cognitive, motor, and behavioral developments and free-play movement performance in toddlers with ASD who were full term (FT-ASD), toddlers who were full term and are typically developing (FT-TD), and toddlers who were born preterm and had a very low birth weight (VLBW-PT). DESIGN : This was a prospective cross-sectional study. METHODS : Forty-five 30- to 36-month-old age-matched toddlers were recruited and divided into FT-ASD, FT-TD, and VLBW-PT groups. Their developments were examined using the Mullen Scales of Early Learning ; the Peabody Developmental Motor Scales, Second Edition ; the Child Behavior Checklist for Ages 1.5-5 ; and the Repetitive Behavior Scale-Revised. In addition, the toddlers’ free-play movements were tracked in laboratory settings using an automatic movement tracking system. RESULTS : Toddlers with FT-ASD exhibited lower cognitive and motor scores and a higher degree of behavioral problems compared with toddlers with FT-TD or VLBW-PT. Furthermore, the movement tracking data in a free-play setting revealed toddlers with FT-ASD performed a higher degree of turning velocity, a higher moving time, and a higher frequency of moving toward the peripheral region compared with toddlers with FT-TD or VLBW-PT. Moreover, several motor developmental and movement tracking indicators were found to correlate with behavioral problems and cognitive scores in toddlers with FT-ASD. LIMITATIONS : The study results may have been affected by the small sample size, the cross-sectional design, and tracking only the whole body without subtle movements or segmental motions. CONCLUSIONS : The findings suggest varied aspects of co-occurring developmental conditions and movement-based problems in toddlers with FT-ASD. Using standardized and sensitive measures for the early assessment of perceptuo-motor impairments is necessary for timely early intervention for such toddlers.

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13. Zhou W, Liu D, Xiong X, Xu H. Emotional problems in mothers of autistic children and their correlation with socioeconomic status and the children’s core symptoms. Medicine (Baltimore) ;2019 (Aug) ;98(32):e16794.

To investigate the emotional problems (depressive and anxiety symptoms) of mothers of children with autism spectrum disorder (ASD) and explore the role of the mother’s socioeconomic status (SES) and the core symptoms of the child on the mother’s emotional problems.This cross-sectional survey was performed in 180 mothers of children with ASD in Chang Sha city of China. The 7-item Generalized Anxiety Disorder Scale (GAD-7) and the 9-item Patient Health Questionnaire (PHQ-9) were used to assess the anxiety and depressive symptoms of the mothers of the autistic children. The education level and annual family income, as well as occupation, were be selected as components of the mother’s SES. Autism Behaviour Checklist (ABC) and Social Responsiveness Scale (SRS) were used for the evaluation of the core symptoms of the children. A general information questionnaire was also used. The ordinal regression was used to examine the effect of the SES and children’s core symptoms on maternal emotional problems.The valid response rate was 92.7% (167 of 180 questionnaires were returned). Of the mothers studied, 72.5% and 80.2% had depressive and anxiety symptoms, respectively, and 67.1% suffered from both symptoms. Mother’s SES was observed to be unrelated to maternal anxiety symptoms (P >.05). Only 1 component of the SES (junior high school education level) was related to depressive symptoms (OR = 0.31, 95% CI 0.12-0.80). SRS score under 115 (OR = 0.38, 95% CI 0.16-0.93) of autistic children was a protective factor against maternal anxiety symptoms. The borderline and mild behavioral problems (OR = 0.43, 95% CI 0.19-0.99 ; OR = 0.45, 95% CI 0.22-0.94, respectively) of autistic children were protective factors against maternal depressive symptoms.Mothers of autistic children generally exhibited high levels of anxiety and depressive symptoms. The core symptoms of the autistic children were observed to be strongly associated with both maternal anxiety and depressive symptoms. Improvements in the core symptoms of children with ASD may help reduce maternal anxiety and depressive symptoms to some extent.

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