Pubmed du 01/09/22
1. Banaschewski T, Bruni O, Fuentes J, Hill CM, Hvolby A, Posserud MB, Schroder C. Practice Tools for Screening and Monitoring Insomnia in Children and Adolescents with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.
Between 50-80% of children with autism spectrum disorder (ASD) have insomnia, which adversely affects their mental and physical health. However, there is no consensus to-date on suitable tools for insomnia screening and monitoring in daily clinical practice. An expert panel of child neuropsychiatry and sleep specialists, with expertise in children with neurodevelopmental disabilities, recommends: (1) performing insomnia screening of all children with ASD; (2) considering discussion or referral to a sleep specialist when comorbid sleep disorders are suspected. The panel further developed structured, brief screening and monitoring tools to facilitate insomnia screening and management in daily practice, monitor treatment effectiveness and standardize and compare outcomes across clinical settings to improve care and well-being of children with ASD and their families.
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2. Bose M, Roullet JB, Gibson KM, Rizzo WB, Mansur HM, McConnell A, Hoffman CA, DiBacco ML, Pearl PL. Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism. Journal of child neurology. 2021; 36(13-14): 1223-30.
Succinic semialdehyde dehydrogenase deficiency (SSADHD), a rare disorder of GABA metabolism, presents with significant neurodevelopmental morbidity. Although there is a growing interest in the concept of quality of life through patient reports as a meaningful outcome in rare disease clinical trials, little is known about the overall impact of SSADHD from the patient/family perspective. The purpose of this study was to determine issues related to quality of life and patient/family experience through a focus group discussion with family caregivers of patients with SSADHD. The discussion included the input of 5 family caregivers, and highlighted concerns related to physical function, cognitive and intellectual function, psychological and behavioral function, social function, and family impact. These themes represent appropriate starting points in the development of a quality-of-life survey that may serve as a meaningful clinical tool in future studies of SSADHD.
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3. Moullin JC, Sklar M, Ehrhart MG, Green A, Aarons GA. Provider REport of Sustainment Scale (PRESS): development and validation of a brief measure of inner context sustainment. Implementation science : IS. 2021; 16(1): 86.
BACKGROUND: Implementation scientists and practitioners often rely on frontline providers for reporting on implementation outcomes. Furthermore, measures of sustainment are few, and available sustainment measures are mainly setting or evidenced-based practice (EBP) specific, require organizational and system-level knowledge to complete, and often lack psychometric rigor. The aim of this study was to develop a brief, pragmatic, and generalizable measure for completion by frontline service providers of the implementation outcome, sustainment. METHODS: We utilized a Rasch measurement theory approach to scale the development and testing of psychometric parameters. Sustainment items were developed to be relevant for direct service providers to complete. In order to promote generalizability, data were collected and items were tested across four diverse psychosocial evidence-based practices (motivational interviewing [MI], SafeCare®, classroom pivotal response training [CPRT], and an individualized mental health intervention for children with autism spectrum disorder [AIM-HI]) and in four service settings (substance use disorder treatment, child welfare, education, and specialty mental health). Associations between the sustainment measure and sustainment leadership, sustainment climate, and attitudes towards the adoption and use of each of the EBPs were assessed to confirm construct validity. RESULTS: Three items for the Provider REport of Sustainment Scale (PRESS) were assessed for measuring the core component of sustainment: continued use of the EBP. Internal consistency reliability was high. The scale indicated fit to the Rasch measurement model with no response dependency, ordered thresholds, no differential item functioning, and supported unidimensionality. Additionally, construct validity evidence was provided based on the correlations with related variables. CONCLUSION: The PRESS measure is a brief, three-item measure of sustainment that is both pragmatic and useable across different EBPs, provider types, and settings. The PRESS captures frontline staffs’ report of their clinic, team, or agency’s continued use of an EBP. Future testing of the PRESS for concurrent and predictive validity is recommended.
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4. Nabors L, Overstreet A, Carnahan C, Ayers K. Evaluation of a Pilot Healthy Eating and Exercise Program for Young Adults with Autism Spectrum Disorder and Intellectual Disabilities. Advances in neurodevelopmental disorders. 2021; 5(4): 413-30.
OBJECTIVES: The aims of this pilot study were to examine program structure, implementation, and outcomes of a healthy eating and exercise program for young adults with Autism Spectrum Disorder (ASD) and intellectual disabilities (IDs). METHODS: Seventeen young adults with ASD and IDs, six parents, and 10 staff participated. Programming was delivered for over a year and featured healthy eating and exercise lessons. Also, group-based motivational interviewing was used to develop weekly health goals for participants. During COVID-19, lessons were delivered online. The program was modified using lectures with visual material, when participants returned to classrooms. Lessons focused on MyPlate, portion sizes, the food pyramid, vitamins and minerals in foods, and learning to eat « less » of unhealthy food groups. Exercise lessons featured information about importance of exercise, introduction to different types of exercise, and knowledge about how exercise benefits the body. Staff completed implementation logs. Height and weight of participants were examined at regular intervals. Parents completed surveys and participants completed group interviews to assess program impact. RESULTS: Two participants lost a significant amount of weight and others maintained their weight during COVID-19. Participants and parents were satisfied with the program and reported knowledge and behavior change. CONCLUSIONS: Results indicated participating in the intervention resulted in improved knowledge and health behaviors. Findings are preliminary, and research using control groups and assessing change in weight and behaviors over time are needed. Observation of meals and physical activity levels will provide more objective data in future studies.
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5. Ntalindwa T, Nduwingoma M, Karangwa E, Rashid Soron T, Uworwabayeho A, Uwineza A. Development of a Mobile App to Improve Numeracy Skills of Children With Autism Spectrum Disorder: Participatory Design and Usability Study. JMIR pediatrics and parenting. 2021; 4(3): e21471.
BACKGROUND: The use of information and communication technologies is transforming the lives of millions of people including children with autism spectrum disorder (ASD). However, the process of developing a user-friendly and effective mobile app needs to follow a complex standard protocol and culture-sensitive customization, and involves multiple sectors. This complex work becomes even more challenging when considering children with ASD in low- and middle-income countries as the users. OBJECTIVE: This study aimed to design and develop a more intuitive mobile app to improve numeracy skills of children with ASD in Rwanda and evaluate the usability of the app. METHODS: A participatory design approach was utilized in this study in which 40 children with ASD, 5 teachers, and 10 parents of children with ASD participated in focus group discussions (FGDs) and usability testing. A narrative literature review was performed to explore existing mobile apps and compare previous studies to design the questions for FGD and facilitate a framework for designing the app. The agile methodology was used to develop the mobile app, and the heuristics evaluation method was used to test and evaluate the usability of the initial version of the app to improve its functionalities. The interviews were recorded, transcribed, and analyzed following the guidelines of the qualitative narrative analysis (QNA) method. RESULTS: During the FGDs the respondents shared their need for a mobile app in teaching and learning numeracy for children with ASD and pointed to possibilities of integrating the mobile app into existing curriculum. Ten themes emerged from the FGDs and exercise of developing the mobile app. The themes were related to (1) teaching and learning numeracy for children with ASD, (2) planning and development of a mobile app for a person with ASD, (3) testing a mobile app, (4) strength of the developed app against the existing ones, (5) behavioral maintenance and relapse prevention, (6) possibilities to integrate the mobile app into the existing curriculum, (7) data protection for users, (8) social implications, (9) challenges in Rwanda, and (10) focus on future. CONCLUSIONS: The community plays an important role in the planning, development, and evaluation of a mobile app for children with ASD. In this study, inputs from teachers and parents resulted in an optimally designed mobile app that can improve numeracy skills in children diagnosed with ASD to support the implementation of competency-based curriculum in Rwanda.
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6. Pi S, Gong J, Xiao W, Xiao B, Mao X, Long H. The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis. Journal of human genetics. 2022; 67(2): 103-6.
Congenital disorders of glycosylation (CDGs) are inherited metabolic diseases affecting protein and lipid glycosylation. DDOST-CDG is a rare, newly identified type of CDGs, with only one case reported so far. In this study, we report a Chinese patient with a homozygous pathogenic variant in DDOST (c.1187G>A) and who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in our patient. This finding further identifies DDOST as a genetic cause of CDGs and expands the clinical phenotype of DDOST-CDG.
