1. Bambara LM, Cole CL, Telesford A, Bauer K, Bilgili-Karabacak I, Weir A, Thomas A. Using Peer Supports to Encourage Adolescents With Autism Spectrum Disorder to Show Interest in Their Conversation Partners. Journal of speech, language, and hearing research : JSLHR. 2021; 64(12): 4845-60.

PURPOSE: This study was conducted to evaluate the effects of a multicomponent peer-mediated intervention (PMI) on teaching adolescents with autism spectrum disorder (ASD) how to show interest in peer conversation partners by asking partner-focused questions about the person, their interests, or their experiences and by making partner-focused comments that positively affirm peer statements or express concern. METHOD: A multiple-baseline design across three verbally fluent high school students with ASD was used to assess the effects of the PMI, which involved training peers (n = 10) to support conversation and the students’ use of target skills, and training the students to use partner-focused skills with the aid of a self-reflection cue sheet during conversation with trained peers in a high school cafeteria. Ten-minute samples of student-peer conversations were transcribed and analyzed. Generalization with untrained peers was assessed. RESULTS: The PMI was highly effective in increasing all students’ use of partner-focused skills. Gains were maintained by two students in a return-to-baseline condition. Generalization was evident for all students with varied results. Peers and students with ASD perceived the intervention to be beneficial. CONCLUSIONS: This study adds to the limited research showing that PMI can be used in high school settings to improve target conversational skills and provides preliminary evidence that PMI can successfully address an underresearched pragmatic language difficulty (i.e., introducing and maintaining topics of conversation of relevance and interest to conversation partners) common among adolescents with ASD. These findings invite replication to extend generality and assess the impact of the intervention on peer relationships. Supplemental Material https://doi.org/10.23641/asha.16915663.

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2. Bui TA, Shatto J, Cuppens T, Droit A, Bolduc FV. Phenotypic Trade-Offs: Deciphering the Impact of Neurodiversity on Drug Development in Fragile X Syndrome. Frontiers in psychiatry. 2021; 12: 730987.

Fragile X syndrome (FXS) is the most common single-gene cause of intellectual disability and autism spectrum disorder. Individuals with FXS present with a wide range of severity in multiple phenotypes including cognitive delay, behavioral challenges, sleep issues, epilepsy, and anxiety. These symptoms are also shared by many individuals with other neurodevelopmental disorders (NDDs). Since the discovery of the FXS gene, FMR1, FXS has been the focus of intense preclinical investigation and is placed at the forefront of clinical trials in the field of NDDs. So far, most studies have aimed to translate the rescue of specific phenotypes in animal models, for example, learning, or improving general cognitive or behavioral functioning in individuals with FXS. Trial design, selection of outcome measures, and interpretation of results of recent trials have shown limitations in this type of approach. We propose a new paradigm in which all phenotypes involved in individuals with FXS would be considered and, more importantly, the possible interactions between these phenotypes. This approach would be implemented both at the baseline, meaning when entering a trial or when studying a patient population, and also after the intervention when the study subjects have been exposed to the investigational product. This approach would allow us to further understand potential trade-offs underlying the varying effects of the treatment on different individuals in clinical trials, and to connect the results to individual genetic differences. To better understand the interplay between different phenotypes, we emphasize the need for preclinical studies to investigate various interrelated biological and behavioral outcomes when assessing a specific treatment. In this paper, we present how such a conceptual shift in preclinical design could shed new light on clinical trial results. Future clinical studies should take into account the rich neurodiversity of individuals with FXS specifically and NDDs in general, and incorporate the idea of trade-offs in their designs.

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3. Desroches ML, Fisher K, Ailey S, Stych J. « We Were Absolutely in the Dark »: Manifest Content Analysis of Developmental Disability Nurses’ Experiences During the Early COVID-19 Pandemic. Global qualitative nursing research. 2021; 8: 23333936211051705.

People with developmental disabilities (DD) are devastatingly impacted by COVID-19, yet no studies have explored the experiences of developmental disability nurses during the pandemic. In April 2020, as part of a multiple method study, we used manifest content analysis to evaluate nurses’ 287 open-ended responses to our online survey question: « What is the experience of being a developmental disability nurse while encountering challenges to meeting basic care needs during the early COVID-19 pandemic? » We identified four themes: living with fear and stress, helping others to understand and cope, navigating a changing landscape, and being left out. Findings reinforce the need for accessible health information for people with developmental disability, guidelines relevant to developmental disability nursing settings, emotional support for developmental disability nurses, and education of health care professionals about the contribution of the developmental disability nurse in supporting the holistic well-being of people with DD.

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4. Gallardo-Carrasco MC, Jiménez-Barbero JA, Bravo-Pastor MDM, Martin-Castillo D, Sánchez-Muñoz M. Serum Vitamin D, Folate and Fatty Acid Levels in Children with Autism Spectrum Disorders: A Systematic Review and Meta-Analysis. Journal of autism and developmental disorders. 2021.

Vitamin and fatty acid deficiency in children diagnosed with autism has been linked to the etiology and course of the disease but the results have been inconsistent. In our work, we present a narrative review, which includes 20 observational studies that provide data on the blood levels of vitamin D, folate, or fatty acids of children diagnosed with ASD (Autism Spectrum Disorder-AG group), and of a control group (children without this disorder-CG group). The main characteristics and results are presented in a summary table. Of the 20 above-mentioned studies, a meta-analysis of vitamin D and folate levels was carried out in 14 of them, with a total of 2269 children (AG = 1159, CG = 1110). Vitamin D levels were lower in AG compared to CG: SMD, 95% CI = - 0.83 [- 1.15, – 0.50]. In terms of folate levels, a total of 299 children (AG = 148, CG = 151) were analyzed, finding no significant differences with the control group: SMD, 95% CI = - 0.16 [- 0.63, 0.32]. Only one study that provided data on fatty acids in children with ASD was included in the review although it was not possible to include it in the meta-analysis. We conclude that the nutritional status (vitamin and fatty acid levels) of patients diagnosed with ASD should be taken into account, as correct adjustment of these levels-may produce an improvement in the course of the disease and could also reduce the risk of its development.

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5. Ghanouni P, Hood G, Weisbrot A, McNeil K. Utilization of health services among adults with autism spectrum disorders: Stakeholders’ experiences. Research in developmental disabilities. 2021; 119: 104120.

BACKGROUND: Autism spectrum disorder (ASD) is a lifelong disorder, beginning in early childhood, which often accompanies with several healthcare challenges. There is a need for consistent and continued healthcare services throughout the life of an individual with ASD. The majority of previous studies have examined healthcare services in children with ASD and there is limited evidence about healthcare needs of adults with ASD. OBJECTIVE: The aim of this project was to capture the experiences of stakeholders including adults with ASD in receiving healthcare services. METHOD: We interviewed 22 stakeholders, including adults with ASD (n = 13), parents of adults with ASD (n = 5), and service providers (n = 4). Open-ended questions were used to explore their experiences with the healthcare system. We analysed the data thematically to develop the overarching themes. RESULTS: Three themes emerged from interviews including a) availability and accessibility of healthcare services, b) provision of quality healthcare and service delivery, and c) striving for better health outcomes. CONCLUSION: This study found that many adults with ASD can experience a continued lack of access to services and the care they receive is often of limited quality. The unmet healthcare needs lead stakeholders to feel stress, frustration, exhaustion, and possible burnout. The detrimental cost of limited services not only impacts adults with ASD but also their caregivers.

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6. Luque CG, Atkins-Labelle C, Pauwels J, Costello R, Kozak FK, Chadha NK. Intranasal Dexmedetomidine increases the successful sedation of children with autism for out-patient auditory brainstem response hearing tests. International journal of pediatric otorhinolaryngology. 2021; 151: 110945.

INTRODUCTION: The auditory brainstem response (ABR) hearing test can be challenging in children with autism spectrum disorder (ASD) due to the inherent behavioral challenges associated with this condition. To attempt to increase our success in sedating ASD patients, we added the use of intranasal Dexmedetomidine (Dexmed) to be used alone or with oral Chloral Hydrate (CH) in an ambulatory care setting, with monitoring by a specialist nurse. OBJECTIVES: To determine the success and safety of a protocol for ABR testing performed under sedation with intranasal Dexmed and oral chloral hydrate in ASD patients. To compare the success rate, the occurrence of adverse events and time needed to initiate ABR between Dexmed-CH protocol and previous CH-alone protocol in ASD patients. METHODS: Retrospective review. ASD patients in Dexmed-CH sedation protocol were age- and sex-matched to ASD patients who underwent CH-alone sedation protocol, for comparison. RESULTS: 74 ABR records in ASD children were included, 37 patients using Dex-CH protocol and 37 patients using CH-alone protocol. In the Dexmed-CH protocol group, Dexmed was used in 2 different ways: alone as a first choice in patients who refused to swallow CH (9/37), or combined with CH as a rescue (28/37). Under this sedation protocol, 89% of the attempted ABRs were completed successfully with no major adverse effects. In comparison, in ASD patients sedated using the protocol of CH-alone, the success rate significantly lower (69% vs. 89%). The time needed to initiate the test was not significantly different. CONCLUSION: The use of intranasal Dexmed by itself or in combination with CH was a safe and reliable method of performing sedated ABR in ASD patients. Modifying our previous oral CH protocol to include intranasal Dexmed, substantially improved our success rate of sedation in ASD patients in an ambulatory setting. This study may be of significant value to centers worldwide exploring alternatives to general anesthesia for ABR testing in ASD patients.

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7. Rosencrans M, Tassé MJ, Kim M, Krahn GL, Bonardi A, Rabidoux P, Bourne ML, Havercamp SM. Invisible populations: Who is missing from research in intellectual disability?. Research in developmental disabilities. 2021; 119: 104117.

It is estimated that approximately 41% of adults with intellectual and developmental disability (IDD) are served through the developmental disabilities (DD) system in the US. The remaining 59% include individuals who meet diagnostic criteria but are not actively receiving paid services or may not be known to the DD system. Scholars have referred to this group as the « hidden majority. » Very little is known about the health and well-being of these adults. It remains to be seen if the hidden majority is comparably susceptible to mental health difficulties, given how little is known about this population by DD systems. The purpose of this manuscript is to highlight where one may identify individuals belonging to this hidden population and how researchers might effectively recruit from this group so as to ensure more representative samples of all people with IDD.

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8. Xie Y, Li M, Dong W, Jiang W, Zhao H. M-DATA: A statistical approach to jointly analyzing de novo mutations for multiple traits. PLoS genetics. 2021; 17(11): e1009849.

Recent studies have demonstrated that multiple early-onset diseases have shared risk genes, based on findings from de novo mutations (DNMs). Therefore, we may leverage information from one trait to improve statistical power to identify genes for another trait. However, there are few methods that can jointly analyze DNMs from multiple traits. In this study, we develop a framework called M-DATA (Multi-trait framework for De novo mutation Association Test with Annotations) to increase the statistical power of association analysis by integrating data from multiple correlated traits and their functional annotations. Using the number of DNMs from multiple diseases, we develop a method based on an Expectation-Maximization algorithm to both infer the degree of association between two diseases as well as to estimate the gene association probability for each disease. We apply our method to a case study of jointly analyzing data from congenital heart disease (CHD) and autism. Our method was able to identify 23 genes for CHD from joint analysis, including 12 novel genes, which is substantially more than single-trait analysis, leading to novel insights into CHD disease etiology.

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