Browsing by Subject "Autism Spectrum Disorder"
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Item COVID-19 Pandemic Highlights Access Barriers for Children with Autism Spectrum Disorder(Wolters Kluwer, 2021-09) McNally Keehn, Rebecca; Tomlin, Angela; Ciccarelli, Mary R.; Pediatrics, School of MedicineEngagement in early intensive behavioral intervention has been shown to improve outcomes and lower lifetime care costs for children with autism spectrum disorder (ASD). However, in most regions of the United States, a medical diagnosis of ASD is necessary to access these interventions. A shortage of expert diagnosticians, inefficient evaluation models, and long evaluation wait times result in substantial delays in ASD diagnosis and markedly later entry into services. These delays are increased for children from diverse racial and socioeconomic backgrounds and underresourced regions. Although systemic barriers require ongoing attention, we highlight here the critical role that insurers play in limiting intervention access through application of inappropriate medical review criteria for ASD diagnostic evaluations. Specifically, to consider a medical diagnosis as valid and authorize specialized interventions, many insurers mandate the use of a specific assessment tool(s) instead of allowing qualified clinicians to use a flexible evidence-informed evaluation protocol. This has become especially problematic during COVID-19, when evaluation practices have rapidly shifted to meet demands for remote and/or socially distanced procedures through implementation of telehealth and use of novel diagnostic tools that are not yet accepted by insurers. When insurers erroneously deem ASD diagnoses as invalid, children are unable to benefit from needed interventions, resulting in a cascade of deleterious consequences.Item Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior(Elsevier, 2021) Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E.H.; Volker-Touw, Catharina M.L.; van Gassen, Koen L.I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B.A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.; Neurology, School of MedicinePurpose: We describe a novel neurobehavioral phenotype of autism spectrum disorder (ASD), intellectual disability, and/or attention-deficit/hyperactivity disorder (ADHD) associated with de novo or inherited deleterious variants in members of the RFX family of genes. RFX genes are evolutionarily conserved transcription factors that act as master regulators of central nervous system development and ciliogenesis. Methods: We assembled a cohort of 38 individuals (from 33 unrelated families) with de novo variants in RFX3, RFX4, and RFX7. We describe their common clinical phenotypes and present bioinformatic analyses of expression patterns and downstream targets of these genes as they relate to other neurodevelopmental risk genes. Results: These individuals share neurobehavioral features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. Conclusion: These results establish a likely role of deleterious variation in RFX3, RFX4, and RFX7 in cases of monogenic intellectual disability, ADHD and ASD, and position these genes as potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.Item Effectiveness of Occupational Therapy Interventions to Promote Social Participation in Children and Young Adults with Autism Spectrum Disorder(2023-05) Chelmella, Payton; Jackman, Ellie; Negash, Shushan; Richardson, Nicole; Vaccaro, Hannah; Chase, Tony; Sego, Daniel; Department of Occupational Therapy, School of Health and Human SciencesA systematic review of the literature related to effective occupational therapy interventions on socialization for children and adolescents with Autism Spectrum Disorder (ASD). This review provides a comprehensive overview and discussion of 25 studies that addressed the variety of interventions that can be used when targeting social skills including sensory integration, animal-assisted interventions, technology, play, school-based, and caregiver-assisted interventions. The findings reveal that the use of these interventions is clinically significant yet there is limited evidence to support generalizability to the population. This review supports the premise that children and adolescents with ASD who experience socialization challenges as compared to typically developing peers can improve their social skills through these interventions.Item Emergency Department Utilization Among Pediatric and Young Adults with Intellectual and Developmental Disabilities (2009-2014)(2019-04) Mullen, Cody J.; Stone, Cynthia; Menachemi, Nir; Monahan, Patrick; Johnston, AnnIntroduction: The prevalence of those aged 3-25 with an intellectual and developmental disability (I/DD), has increased 17.1% from 1997 to 2008. This study focused on these I/DD: autism spectrum disorder (ASD), cerebral palsy, learning disabilities and spina bifida. Previous studies have found that individuals with an I/DD use health services and the emergency department (ED) more frequently, regardless of payer. Methods: This dissertation will describe and define the characteristics of ED use among children and young adults with an I/DD. A repeated, cross-section of annual data of a national sample distributed by the Agency for Healthcare Research and Quality Healthcare Utilization Project National Emergency Department Sample will be analyzed from 2009-2014. This approach will document the primary clinical reason for ED use, the appropriateness of the need for a visit, and demographic, geographic, and temporal correlates for medical, injury, and psychiatric care visits in the ED. The appropriateness of need will be assessed by the New York University (NYU) Emergency Department Diagnosis Classification method for medical care visits. A logistic regression model will be specified for each visit type. Results: The sample included 386,632 visits with an I/DD diagnosis. The NYU classification method found that 44.6% of all visits for ASD were classified as nonemergent yet the other three I/DD had a non-emergent visit rate ranging 25.9%-28.8%. The ASD sub-sample was 51.8% of all visits for psychiatric care and 50.5% of all visits for injury care. All independent variables tested: admission on weekend, ED trauma level, age, sex, payer source, patient zip code income quarterlies, and patient rurality, were found to be statistically different for each model. Conclusion: The findings indicate the need for development of interventions that are specific to reducing non-emergent ED utilization for children and young adults with a diagnosis of ASD and interventions developed for reduction of emergent ED care for the other I/DD’s. In addition, unique interventions are needed to reduce the utilization of the ED for psychiatric care specifically for the ASD population and utilization of the ED for injury care for all I/DD diagnoses.Item An empirical study of multidimensional fidelity of COMPASS consultation(American Psychological Association, 2018-06) Wong, Venus; Ruble, Lisa A.; McGrew, John H.; Yu, Yue; Psychology, School of ScienceConsultation is essential to the daily practice of school psychologists (National Association of School Psychologist, 2010). Successful consultation requires fidelity at both the consultant (implementation) and consultee (intervention) levels. We applied a multidimensional, multilevel conception of fidelity (Dunst, Trivette, & Raab, 2013) to a consultative intervention called the Collaborative Model for Promoting Competence and Success (COMPASS) for students with autism. The study provided 3 main findings. First, multidimensional, multilevel fidelity is a stable construct and increases over time with consultation support. Second, mediation analyses revealed that implementation-level fidelity components had distant, indirect effects on student Individualized Education Program (IEP) outcomes. Third, 3 fidelity components correlated with IEP outcomes: teacher coaching responsiveness at the implementation level, and teacher quality of delivery and student responsiveness at the intervention levels. Implications and future directions are discussed. (PsycINFO Database Record.Item Establishing OT’s Role in Addressing Sleep Disturbances for Autistic Children: A Rapid Systematic Review(2024-04-25) Arnold, Logan; Bacon, Veronica; Conn, Sydney; Cowgur, Chloe; Metaxas, Nina; Mehringer, Jadon; Chase, Anthony; Lee, Chang Dae; Department of Occupational Therapy, School of Health and Human SciencesThis rapid systematic review examined the relationship between various interventions and sleep measures for autistic children and adolescents. Establishing this link can aid occupational therapists in understanding how to select and apply established interventions to practice. A variety of interventions were found within current literature to treat sleep disturbances including melatonin, non-melatonin pharmaceuticals, physical activity, behavioral and educational sleep hygiene, and sensory based interventions. The results indicated that all but the non-pharmaceutical interventions consistently yielded beneficial outcomes in decreasing sleep problems in the autistic children. However, these positive outcomes were briefly sustained once the studies ended. These findings suggest there is a trend within literature that sleep interventions have limitations when attempting to apply them to real-life cases. This dynamic highlights a gap between evidence-based outcomes that may improve sleep deficits in autistic children and the ability for these outcomes to be implemented in family’s homes. Occupational therapists have the potential to fill the gap and provide translational care to assist families in establishing routines backed by evidence. By improving sleep quality in this population, these guided interventions have the potential to improve the overall well-being and life satisfaction of children and their families.Item The impact of personality traits on outcomes of caregivers of individuals with Autism Spectrum Disorder in the transition period(2017) Yu, Yue; McGrew, John H.The study examined the impact of the “big 5” personality traits on caregiver burden during the period when individuals with ASD transition from high school. Participants (N = 117) were caregivers of individuals with ASD who either will graduate within two years or graduated from high school within the past two years. Participants completed questionnaires measuring study variables predicted to be associated with caregiver burden as guided by the Double ABCX model of family adaptation, i.e., autism symptom severity, problem behaviors, pile-up of life demands, personality traits, social support, cognitive appraisals, and coping strategies. Primary caregivers reported moderate burden in the transition period. Specifically, although caregivers experienced stress in the transition period, they were less overwhelmed than the period when one’s child first receive the ASD diagnosis. Increased problem behaviors, higher neuroticism, lower extraversion, conscientiousness, and agreeableness, lower levels of social support, fewer use of challenge appraisals, and greater use of threat appraisals and passive-avoidance coping strategies predicted greater caregiver burden. Passive-avoidance coping mediated the relationship between caregiving stress and four personality traits respectively (i.e., neuroticism, extraversion, conscientiousness, and agreeableness). The results support the potential importance of personality traits in explaining differences in caregiver stress in families of those with ASD and further indicated that the association between personality and burden was mediated by caregivers’ use of maladaptive coping strategies, i.e., passive-avoidance coping. The findings also have potential applicability for interventions to reduce caregiver burden. Several factors were identified that could help alleviate the stress. For example, parents should be encouraged to avoid using threat appraisals and passive-avoidance coping strategies. In addition, interventions could be developed to provide support or strategies to parents to handle child’s behavioral problems and thus reduce stress.Item Telehealth Evaluation of Pediatric Neurodevelopmental Disabilities During the COVID-19 Pandemic: Clinician and Caregiver Perspectives(Wolters Kluwer, 2022-06) McNally Keehn, Rebecca; Enneking, Brett; James, Cristina; Tang, Qing; Rouse, Maura; Hines, Elesia; Raches, Christine; Etling, Allison; Pediatrics, School of MedicineOBJECTIVE: The objective of this study was to present clinician and caregiver perspectives regarding telehealth neurodevelopmental evaluation delivered at the onset of the coronavirus disease 2019 (COVID-19) pandemic. Specifically, we sought to describe telehealth neurodevelopmental evaluations, examine associations between child characteristics and diagnostic factors, determine the impact of technology and family barriers, and report on clinician and caregiver satisfaction with telehealth evaluation. METHODS: In response to the COVID-19 pandemic, in-person clinical services at a large children's hospital neurodevelopmental clinic were transitioned to telehealth. Data are presented for 254 remote evaluations of children (18-212 months; referral concern: 51% autism spectrum disorder [ASD], 24% developmental delay/intellectual disability, 25% other neurodevelopmental concern) conducted from May to July 2020. Data were gathered from electronic health records as well as clinician and caregiver surveys. RESULTS: A clinical diagnosis was provided in 72% of telehealth evaluations. Clinicians rated diagnostic certainty as "completely" or "somewhat" certain in 74% of evaluations. Certainty ratings were higher for evaluations in which a diagnosis of ASD was provided. Although technology and family challenges were reported, clinicians rarely identified these as disruptive to the evaluation process. Clinicians reported satisfaction with various aspects of delivering telehealth. Caregivers endorsed high satisfaction with receipt of telehealth and reduced travel burden. CONCLUSION: The COVID-19 pandemic has rapidly transformed service delivery for individuals with neurodevelopmental disabilities and provided an unprecedented opportunity to evaluate the deployment of telehealth evaluation to meet the need for ongoing diagnostic care. Our findings suggest that telehealth holds significant promise for neurodevelopmental assessment both within the context of a global pandemic and beyond.