1. Ehrhart F, Coort SL, Eijssen L, Cirillo E, Smeets EE, Bahram Sangani N, Evelo CT, Curfs LMG. {{Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes}}. {World J Biol Psychiatry};2019 (Mar 25):1-23.
OBJECTIVES: Rett syndrome (RTT) is a rare disorder causing severe intellectual and physical disability. The cause is a mutation in the gene coding for the methyl-CpG binding protein 2 (MECP2), a multifunctional regulator protein. Purpose of the study was integration and investigation of multiple gene expression profiles in human cells with impaired MECP2 gene to obtain a robust, data-driven insight in molecular disease mechanisms. METHODS: Information about changed gene expression was extracted from five previously published studies, integrated and the resulting differentially expressed genes were analyzed using overrepresentation analysis of biological pathways and gene ontology, and network analysis. RESULTS: We identified a set of genes, which are significantly changed not in all but several transcriptomics datasets and were not mentioned in the context of RTT before. We found that these genes are involved in several processes and molecular pathways known to be affected in RTT. Integrating transcription factors we identified a possible link how MECP2 regulates cytoskeleton organization via MEF2C and CAPG. CONCLUSION: Integrative analysis of omics data and prior knowledge databases is a powerful approach to identify links between mutation and phenotype especially in rare disease research where little data is available.
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2. Friedlaender E, Griffis H, Faerber J, Quarshie W, Ely B. {{Disparities in Care: Do Children with Autism Spectrum Disorder Experience Differential Medication Receipt In The Emergency Department?}}. {J Dev Behav Pediatr};2019 (Apr);40(3):170-175.
OBJECTIVE: The primary objective of this study was to describe analgesia administration between neurotypical (NT) individuals and those with autism spectrum disorder (ASD) diagnosed with appendicitis or long bone fractures in the emergency department (ED). A secondary objective was to compare the rates of complicated appendicitis as a proxy for delayed diagnosis between the groups. METHODS: This is a retrospective cohort study using the Pediatric Health Information System database. Study participants were children aged 6 to 18 years with ASD and with an ED visit for appendicitis or fracture between 2004 and 2015 who were matched to demographically similar NT children. Children with a developmental disorder and/or complex chronic condition were excluded. Coarsened exact matching and logistic regression were used to investigate the association between ASD status and opioid and non-opioid medication receipt. Comparison of the rates of complicated appendicitis in children with ASD and NT children was conducted before matching. RESULTS: From 2004 to 2015, 126,412 children with appendicitis and 392,151 children with long bone fractures were identified. Of these, 889 children had a diagnosis of ASD and were matched to 35,672 NT controls with appendicitis. In addition, 2117 children with ASD were matched to 200,635 NT controls with long bone fractures. Receipt of opioids or nonsteroidal anti-inflammatory drugs was not found to be significantly different between the 2 groups. However, a larger proportion of children with ASD presented with complicated appendicitis compared with NT controls (37.1% vs 29.9%, respectively; p < 0.001). CONCLUSION: Receipt of analgesia did not differ significantly between populations of ASD and NT peers. Children with ASD have increased rates of complex appendicitis, possibly suggesting limited access to care or provider difficulty in evaluating this patient population. Lien vers le texte intégral (Open Access ou abonnement)
3. Glasper A. {{Will extra training improve care of service users with learning disabilities or autism?}}. {Br J Nurs};2019 (Mar 14);28(5):315-316.
Emeritus Professor Alan Glasper, University of Southampton, discusses a new initiative for additional training for health professionals in England. An open consultation is inviting nurses and others to comment on the proposals.
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4. Irwin M, Harstad E, Deister D, Augustyn M. {{Features of Catatonia in a 12-Year-Old Boy with Autism Spectrum Disorder}}. {J Dev Behav Pediatr};2019 (Apr);40(3):237-238.
CASE: Thomas is a 12-year-old boy with autism spectrum disorder who presents to his primary care clinician with symptoms of worsening mood in the last 3 months. On review of his last school testing, his cognitive abilities are found to be within the average range, with a relative vulnerability with his processing speed. He can speak in sentences to communicate and answer questions, but he rarely picks up on conversational bids. He has had difficulties developing friendships and often prefers to play by himself.Thomas has a long history of some features of anxiety and depression for which it was recommended that he establish care with a therapist, but his family has had a hard time finding a provider for him. At this visit, the mother reports that for the past several months he has been more anxious, sad, and easily overwhelmed. He seems irritable at home and school and cries often. His family has been advocating for him to receive increased school supports, as school is a source of anxiety for him, but there are no recent changes in school services. There is a family history of both anxiety and depression. Given his worsening mood functioning, Thomas was started on selective serotonin reuptake inhibitor (SSRI) medication in addition to again recommending a therapist. Weekly phone call check-ins and an in-person clinic visit in 1 month are planned.About 1 month after starting the SSRI medication, he is still not showing any improvement in mood functioning, and his family reports he seems more « sluggish » than usual. There are no side effects reported with the medication, and the dose is increased to see whether it will help. However, about 2 weeks later, he is seen again in the clinic because there are increasing concerns. He continues to be « sluggish. » During the clinic visit, he lies down on the examination table, sometimes holding his head off the edge of the table, which he has never done before. He responds very slowly to the questions and often says « I don’t know, I don’t know, » almost in an automatic way. His mother reports that he is now engaging in some repetitive hand movements which he had not done previously. He is no longer able to shower independently. He is still eating and drinking adequately. What would you do next?
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5. Kurz EM, Conzelmann A, Barth GM, Hepp L, Schenk D, Renner TJ, Born J, Zinke K. {{Signs of enhanced formation of gist memory in children with autism spectrum disorder – a study of memory functions of sleep}}. {J Child Psychol Psychiatry};2019 (Mar 25)
BACKGROUND: Autism spectrum disorder (ASD) is characterized by impaired cognitive and social skills, including emotional dysregulation, and symptoms have been suspected to partly arise from impaired formation of memory representations regulating these behaviours. Sleep, which is subjectively impaired in ASD, is critical for forming long-term memories and abstracted gist-based representations. We expected a generally reduced memory benefit from sleep in children with ASD, and a diminished enhancement of gist representations, in particular. METHODS: We compared effects of sleep on memory consolidation between boys (9-12 years) with ASD (n = 21) and typically developing (TD, n = 20) boys, matched for age and IQ, in a within-subjects crossover design. We employed an emotional picture recognition task and the Deese-Roediger-McDermott (DRM) word list task for assessing gist memory formation in the emotional and nonemotional domain, respectively. Learning took place before retention intervals of nocturnal sleep and daytime wakefulness, and retrieval was tested afterwards. RESULTS: Surprisingly, on the DRM task, children with ASD showed an enhanced sleep-dependent formation of gist-based memory (i.e. more recall of ‘critical lure words’ after sleep compared to wakefulness) than TD children, with this effect occurring on top of a diminished veridical word memory. On the picture recognition task, children with ASD also showed a stronger emotional enhancement in memory (i.e. relatively better memory for negative than neutral pictures) than TD children, with this enhancement occurring independent of sleep. Sleep polysomnography was remarkably comparable between groups. CONCLUSIONS: Children with ASD show well-preserved sleep-dependent memory consolidation. Enhanced gist memory formation in these children might reflect a compensatory response for impairments at earlier stages of memory processing, that is during encoding.
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6. Li GK, Ge P, Liu GH, Huang XX, Lu GB, Wang YX, Qian QF, Ou P, Xu YY. {{[Clinical effect of integrated sandplay therapy in children with Asperger syndrome]}}. {Zhongguo Dang Dai Er Ke Za Zhi};2019 (Mar);21(3):234-238.
OBJECTIVE: To study the clinical effect of integrated sandplay therapy in preschool children with Asperger syndrome (AS). METHODS: A total of 44 preschool children with AS were randomly divided into an experimental group and a control group, with 22 children in each group. The children in the control group were given routine training, and those in the experimental group were given integrated sandplay therapy in addition to the routine training. The treatment response was assess by the Social Responsiveness Scale (SRS), emotional recognition tools and changes in sandplay theme characteristics after 6 months of treatment. RESULTS: Before intervention, there were no significant differences between the two groups in the total score of SRS, the score of each factor of SRS, and correct rates of facial expression recognition of the upright position, inverted position, upper face and lower face (P>0.05). After 6 months of intervention, both groups had significant reductions in the total score of SRS and the score of each factor of SRS (P<0.01); the control group had significant increases in the correct rates of facial expression recognition of all positions except the upright position (P<0.05), while the experimental group had significant increases in the correct rates of facial expression recognition of all positions (P<0.05). Compared with the control group after intervention, the experimental group had significantly lower total score of SRS and scores of all factors of SRS except social perception (P<0.01) and significantly higher correct rates of facial expression recognition of all positions (P<0.01). The experimental group had a significant change in the number of sandplay theme characteristics after intervention (P<0.01). CONCLUSIONS: Integrated sandplay therapy can improve social responsiveness and emotion recognition ability in preschool children with AS. Lien vers Pubmed
7. Phelps RA, Coker TR. {{First, Do No Harm: Improving Access in Autism Diagnostic Assessments for Children Without Exacerbating Inequities in Care}}. {J Dev Behav Pediatr};2019 (Apr);40(3):217-218.
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8. Rojo D, Mayor J, Rueda JJG, Raya L, Potel M. {{A Virtual Reality Training Application for Adults With Asperger’s Syndrome}}. {IEEE Comput Graph Appl};2019 (Mar-Apr);39(2):104-111.
Asperger’s syndrome is a disorder that involves a qualitative impairment in social interactions. While most treatments are aimed at children or adolescents, in this paper we present the development of a virtual reality training application in which adults with Asperger’s syndrome can train in an autonomous and controlled way how to present in public.
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9. Sakai C, Mule C, LeClair A, Chang F, Sliwinski S, Yau Y, Freund KM. {{Parent and Provider Perspectives on the Diagnosis and Management of Autism in a Chinese Immigrant Population}}. {J Dev Behav Pediatr};2019 (Mar 20)
OBJECTIVE: Minority families experience disparities in the diagnosis and management of autism spectrum disorder (hereafter « autism »). To date, the experiences of Chinese immigrant families in the United States have not been explored. Utilizing parent and provider perspectives, this research sought to identify barriers and facilitators to the diagnosis and management of autism among Chinese immigrant children. METHODS: We conducted semistructured qualitative interviews with 16 parents of Chinese children diagnosed with autism and 16 providers who assist in the diagnosis and management of autism. Participant characteristics were analyzed utilizing descriptive statistics. Interviews were audiorecorded, transcribed, translated, and independently coded by 2 researchers until consensus was reached. Coded data were analyzed using a modified grounded therapy approach. RESULTS: Parents and providers both identified cultural beliefs as an influence on the understanding and acceptance of autism as a diagnosis. There was a high degree of alignment in themes related to barriers to health care access and parent-provider communication. Recommendations to improve the system of care include (1) supporting communication, (2) cultural sensitivity, and (3) care coordination programming. CONCLUSION: Findings reinforce that diagnosis and treatment of autism should take into account culturally specific beliefs about child developmental norms and should address systems-, provider-, and family-level barriers.
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10. Slobodin O, Heffler KF, Davidovitch M. {{Screen Media and Autism Spectrum Disorder: A Systematic Literature Review}}. {J Dev Behav Pediatr};2019 (Mar 20)
OBJECTIVE: Previous studies suggest that psychiatric disorders are associated with problematic use of screen media. This article systematically reviews the literature on the associations between screen media and autism spectrum disorder (ASD). The review uses the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. METHOD: Electronic databases were searched from inception to April 2018, using the term « ASD/autism » along with one of the following terms: « screen time »/ »media »/ »computer »/ »phone »/ »television »/ »video game. » RESULTS: A total of 16 studies met the inclusion criteria. The studies support the view that children and adolescents with ASD are exposed to more screen time than their typically developing peers or other clinical groups and that the exposure starts at a younger age. The content and context of screen use (e.g., with parents vs alone) may affect the behaviors associated with media exposure. Correlates and long-term consequences of early screen exposure (before the age of 3 years) remain largely unexamined. CONCLUSION: The current review provides important information about how ASD is associated with screen use and exposure. Future longitudinal research should examine the impact of early screen exposure on child development while accounting for potential moderating environmental factors (e.g., socioeconomic status, parent-child relationship). This will help determine whether-and if so, how much-exposure is detrimental and allow appropriate recommendations and interventions related to screen time among children with ASD.
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11. Voss C, Schwartz J, Daniels J, Kline A, Haber N, Washington P, Tariq Q, Robinson TN, Desai M, Phillips JM, Feinstein C, Winograd T, Wall DP. {{Effect of Wearable Digital Intervention for Improving Socialization in Children With Autism Spectrum Disorder: A Randomized Clinical Trial}}. {JAMA Pediatr};2019 (Mar 25)
Importance: Autism behavioral therapy is effective but expensive and difficult to access. While mobile technology-based therapy can alleviate wait-lists and scale for increasing demand, few clinical trials exist to support its use for autism spectrum disorder (ASD) care. Objective: To evaluate the efficacy of Superpower Glass, an artificial intelligence-driven wearable behavioral intervention for improving social outcomes of children with ASD. Design, Setting, and Participants: A randomized clinical trial in which participants received the Superpower Glass intervention plus standard of care applied behavioral analysis therapy and control participants received only applied behavioral analysis therapy. Assessments were completed at the Stanford University Medical School, and enrolled participants used the Superpower Glass intervention in their homes. Children aged 6 to 12 years with a formal ASD diagnosis who were currently receiving applied behavioral analysis therapy were included. Families were recruited between June 2016 and December 2017. The first participant was enrolled on November 1, 2016, and the last appointment was completed on April 11, 2018. Data analysis was conducted between April and October 2018. Interventions: The Superpower Glass intervention, deployed via Google Glass (worn by the child) and a smartphone app, promotes facial engagement and emotion recognition by detecting facial expressions and providing reinforcing social cues. Families were asked to conduct 20-minute sessions at home 4 times per week for 6 weeks. Main Outcomes and Measures: Four socialization measures were assessed using an intention-to-treat analysis with a Bonferroni test correction. Results: Overall, 71 children (63 boys [89%]; mean [SD] age, 8.38 [2.46] years) diagnosed with ASD were enrolled (40 [56.3%] were randomized to treatment, and 31 (43.7%) were randomized to control). Children receiving the intervention showed significant improvements on the Vineland Adaptive Behaviors Scale socialization subscale compared with treatment as usual controls (mean [SD] treatment impact, 4.58 [1.62]; P = .005). Positive mean treatment effects were also found for the other 3 primary measures but not to a significance threshold of P = .0125. Conclusions and Relevance: The observed 4.58-point average gain on the Vineland Adaptive Behaviors Scale socialization subscale is comparable with gains observed with standard of care therapy. To our knowledge, this is the first randomized clinical trial to demonstrate efficacy of a wearable digital intervention to improve social behavior of children with ASD. The intervention reinforces facial engagement and emotion recognition, suggesting either or both could be a mechanism of action driving the observed improvement. This study underscores the potential of digital home therapy to augment the standard of care. Trial Registration: ClinicalTrials.gov identifier: NCT03569176.
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12. Williams-Arya P, Anixt J, Kuan L, Johnson H, Kent B, Bing N, Ehrhardt J, Manning-Courtney P. {{Improving Access to Diagnostic Assessments for Autism Spectrum Disorder Using an Arena Model}}. {J Dev Behav Pediatr};2019 (Apr);40(3):161-169.
OBJECTIVE: To improve access to diagnostic evaluations for children younger than 3 years with concerns for possible autism spectrum disorder. METHODS: A multidisciplinary « arena model » for children younger than 3 years was developed, tested, and implemented over an approximately 2-year period. Arena assessment teams comprised a developmental behavioral pediatrician (DBP), psychologist, and speech language pathologist (SLP). Quality improvement methods were used during the design phase, conducting Plan-Do-Study-Act (PDSA) cycles and collecting feedback from key stakeholders, and during implementation, plotting data on run charts to measure outcomes of the time to initial visit and time to diagnosis. RESULTS: Over the 9-month implementation period, 6 arena assessment teams were formed to provide 60 evaluation slots per month for children younger than 3 years. The time to first visit was reduced from a median of 122 days to 19 days, and the time to final diagnosis was reduced from 139 days to 14 days, maintaining these outcomes at <35 and <18 days, respectively, over a 2-year period. Total visits required decreased from 4 to 5 visits to just 2 visits, and the average assessment cost was reduced by $992 per patient. Feedback from both providers and families participating in this model was overwhelmingly positive. CONCLUSION: Access for young children referred for developmental assessments can be improved through an understanding of supply and demand and the development of creative and flexible care delivery models. Lien vers le texte intégral (Open Access ou abonnement)
13. Wittman S, Abdala AP, Rubin JE. {{Reduced computational modeling of Kolliker-Fuse contributions to breathing patterns in Rett syndrome}}. {J Physiol};2019 (Mar 25)
KEY POINTS: Reduced computational models are used to test effects of loss of inhibition to the Kolliker-Fuse nucleus (KFn). Three reduced computational models that simulate eupneic and vagotomized respiratory rhythms are considered. All models exhibit the emergence of respiratory perturbations associated with Rett syndrome as inhibition to the KFn is diminished. Simulations suggest that application of 5-HT1A agonists can mitigate the respiratory pathology. The three models can be distinguished and tested based on their predictions about connections and dynamics within the respiratory circuit and about effects of perturbations on certain respiratory neuron populations. This article is protected by copyright. All rights reserved ABSTRACT: Rett syndrome (RTT) is a developmental disorder that can lead to respiratory disturbances featuring prolonged apneas of variable durations. Determining the mechanisms underlying these effects at the level of respiratory neural circuits would have significant implications for treatment efforts and would also enhance our understanding of respiratory rhythm generation and control. While experimental studies have suggested possible factors contributing to the respiratory patterns of RTT, we take a novel computational approach to the investigation of RTT, which allows for direct manipulation of selected system parameters and testing of specific hypotheses. Specifically, we present three reduced computational models, developed using an established framework, all of which successfully simulate respiratory outputs across eupneic and vagotomized conditions. All three models show that loss of inhibition to the Kolliker-Fuse nucleus reproduces the key respiratory alterations associated with RTT and, as suggested experimentally, that effects of 5-HT1A agonists on the respiratory neural circuit suffice to alleviate this respiratory pathology. Each of the models makes distinct predictions regarding the neuronal populations and interactions underlying these effects, suggesting natural directions for future experimental testing.
