BACKGROUND: The purpose of this scoping review was to systematically synthesize barriers and facilitators for physical activity (PA) among children and youth with autism spectrum disorders (ASD) across the socioecological model.
METHODS: Five electronic databases were searched in March 2022 for studies examining barriers and facilitators for PA among children and youth with ASD. An updated search was performed in April 2024. The framework synthesis method was utilized, and the socioecological model was the chosen framework.
RESULTS: Fifty-four studies published from 2008 to 2024 were included. Among the included studies, 57% included the perspectives of children and youth with ASD alone or together with proxies (eg, parents, teachers, and coaches), while 43% included only the perspectives of proxies. Barriers and facilitators on the intrapersonal and interpersonal levels were most substantial. The analysis led to 2 main categories of barriers and facilitators, those unique to children and youth with ASD, and those similar to what had been identified through research on children and youth, both typically developing and with other disabilities.
CONCLUSIONS: This comprehensive scoping review shows the complexity of factors contributing to barriers and facilitators for PA among children and youth with ASD, and highlights both the factors unique to this population and more general factors affecting PA participation. The findings from this synthesis might be used to guide the development of inclusive PA in physical education, organized sports, and other community PA arenas.

OBJECTIVE: PCDH19 gene variants, termed PCDH19 clustering epilepsy, represent a distinct etiology of epilepsy. This study aimed to elucidate the clinical manifestations and explore the genotypes and phenotypes of children affected by PCDH19 clustering epilepsy.
METHODS: This retrospective study included medical history, magnetic resonance imaging, video-electroencephalography, and genetic analysis of patients diagnosed with PCDH19 Clustering Epilepsy at the Neurology Department of Beijing Children\'s Hospital from 2015 to 2023. Chi-square tests and logistic regression analyses were conducted to study the factors associated with developmental delay in patients.
RESULTS: The age at seizure onset ranged from 5 to 61 months among all 30 patients (median 14 months; IQR 9.25-22.5 months). Among the 30 patients, 29 were female and 1 was male. Clusters of seizures and fever-triggered seizures were observed, with the most prevalent seizure types being focal to bilateral tonic-clonic seizures (FBTCS). Seizures were successfully controlled in 15 patients. Unfortunately, one patient experienced a sudden unexpected death in epilepsy (SUDEP). Additionally, 14 patients had hereditary mutations, 14 had de novo mutations, 1 had both hereditary and de novo mutations, and 1 male patient had a mosaic component mutation of 0.64 due to a somatic mutation. Developmental delays were identified in 17 patients (56.7 %), and 6 patients (20 %) were diagnosed with autism spectrum disorder (ASD). Among the 17 patients, 9 experienced developmental delays before the onset of epilepsy, while 8 were initially normal but later developed developmental delays during disease progression. Statistical analysis revealed that the presence of drug-resistant epilepsy was an independent risk factor for the occurrence of developmental delays (P = 0.020, OR = 9.758, 95 % CI (1.440-66.111)).
CONCLUSIONS: In this study, 13 new potential rare pathogenic variations in PCDH19 clustering epilepsy were identified. The clinical features observed in patients are consistent with known phenotypic features, and we found that patients with drug-resistant epilepsy are more likely to have developmental delays. The severity of the phenotype in patients with PCDH19 variants ranged from drug-responsive seizures to refractory epilepsy.

BACKGROUND: Individuals with intellectual disabilities experience barriers to quality healthcare. To reduce this disparity, equipping medical trainees with the knowledge and skills required for treating this patient population is critical. Our aim is to describe the breadth of instructional interventions and identify gaps in intellectual disability medical education curricula.
METHODS: Using scoping review methods, the intellectual disability programmes described in 27 articles were evaluated and their coverage of the six core competencies on disability for health care education was examined.
RESULTS: The most frequently represented core competencies were disability conceptual frameworks, professionalism and communication, and clinical assessment, which were, in most programmes, fulfilled by activities involving individuals with intellectual disabilities. Uneven competency coverage warrants consideration.
CONCLUSIONS: Considerable variabilities exist in medical school curricula on intellectual disabilities. Using core competencies on disability for health care education for curricular design and evaluation would provide a coherent training experience in this important area.

OBJECTIVE: Advances in mobile technology are helping with health management practices, and smart toothbrushes provide proper dental care by collecting and analyzing users\' toothbrushing data. The purpose of this study is to assess the effect of a telemonitoring device on oral hygiene management in individuals with intellectual or developmental disabilities and its role in promoting oral health.
METHODS: Participants were split into two groups: one initially using the telemonitoring device (telemonitoring device/manual toothbrush) and the other using it later (manual toothbrush/telemonitoring device), with a one-month washout period. The study compared plaque index, halitosis, changes in oral microbiota, and guardian questionnaire responses between the groups.
RESULTS: In period 1, the QHI index score significantly decreased from 1.93 to 0.83 in the group using the remote monitoring device, compared to an increase from 1.75 to 2.01 in the manual toothbrush group. Additionally, toothbrushing frequency, time, and cooperation increased by 0.82 ± 0.60, 0.82 ± 1.16, and 1.09 ± 0.94, respectively, with initial telemonitoring device use. However, these measures decreased by -1.45 ± 0.68, -1.09 ± 0.70, and - 1.00 ± 1.00 after switching to a manual toothbrush, and decreased by -0.64 ± 0.67, -0.27 ± 1.19, and 0.09 ± 0.94 overall, respectively. However, there were no significant differences in oral microbiota between the groups at these different time points.
CONCLUSIONS: The study shows that telemonitoring devices effectively reduce plaque index and improve toothbrushing frequency, time, and cooperation. However, these benefits decrease after switching to a manual toothbrush. Follow-up is needed to assess satisfaction and compliance with telemonitoring device use.
CONCLUSIONS: Using telemonitoring devices in the oral health management of individuals with intellectual and developmental disabilities can improve their oral health quality.

Youth with intellectual and developmental disabilities typically have higher rates of tics and stereotypies compared to children with otherwise typical development. Differentiating between these two pediatric movement disorders can be challenging due to overlapping clinical features, but is relevant due to distinct treatment modalities. The current study evaluated sensitivity and specificity of a tic screening measure, the Motor or Vocal Inventory of Tics (MOVeIT) in a pediatric sample enriched for stereotypy and tics. Children (n=199, age 2-15 years old) receiving care in a developmental-behavioral pediatrics clinic underwent a gold-standard diagnostic assessment by a tic expert; these evaluations were compared to the MOVeIT. The MOVeIT demonstrated good sensitivity (89.8%) and relatively lower specificity (57.1%) compared to tic expert for detecting tics in the overall sample. Specificity of the MOVeIT to identify tics improved to 75% when excluding children with co-occurring stereotypy. For children with tics and co-occurring stereotypy, sensitivity remained high (91.9%) but specificity was low (39.1%). The area under the curve (AUC) value to detect tics on the MOVeIT compared to the tic expert gold standard was significantly higher for children without stereotypy (AUC=85.7%) than those with stereotypy (AUC=64.3%, p <0.01). Overall, the ability to detect tics was better in those without co-occurring stereotypy symptoms. Further work is needed to establish the utility of the MOVeIT in populations where there is a high likelihood of co-occurring tics and stereotypy and in general population settings. Accurate distinction between tics and stereotypy will guide choices for intervention and anticipatory guidance for families.

UNASSIGNED: To elicit experiences of parents of children with neurodevelopmental conditions using a new perioperative pathway.
UNASSIGNED: Parents of children accessing an adapted perioperative clinical pathway in a tertiary children\'s hospital between July 2019 and December 2020 were invited to participate. A mixed method study was conducted comprising a short survey questionnaire followed by telephonic interviews.
UNASSIGNED: From 67 postal surveys sent out, 20 were completed. Six out of 20 parents participated in phone interviews and one parent submitted written prose. Parents were positive about their experiences. Six themes emerged: Negative past experiences (highlighting the need for adapted perioperative pathways); Reasonable adjustments (improving child and parent\'s hospital journey); Facilitating communication, convenience and collaboration; Parent\'s satisfaction and relief; Barriers to overcome and Areas in need of improvement were discussed.
UNASSIGNED: Parents of children with neurodevelopmental conditions report great satisfaction and relief from their experiences of a more efficient, streamlined and stress-free way for their child to have tests or procedures done. Parents report improved communication, convenience and collaboration with staff resulted in timely, safe and high-quality care.

This study uses Texas\'s 2017 integration of the state disability and mental health agencies as a case study, combining interviews with Texas agency and advocacy organization leaders to examine perceptions of agency integration and augmented synthetic control analyses of 2014-2020 Medical Expenditure Panel Survey to examine impacts on mental health service use among individuals with co-occurring cognitive disabilities (including intellectual and developmental disabilities) and mental health conditions. Interviewees described the intensive process of agency integration and identified primarily positive (e.g., decreased administrative burden) impacts of integration. Quantitative analyses indicated no effects of integration on receipt of mental health-related services among people with co-occurring conditions. While leaders identified some potentially beneficial impacts of state agency integration, the limited impact of integration beyond the agency suggests that interventions at multiple levels of the service system, including those targeting providers, are needed to better meet the mental health service needs for this population.

OBJECTIVE: Effective strategies and practices can assist in forming future initiatives and policies to improve oral health for individuals with intellectual and developmental disabilities (IDD). This manuscript aims to describe the Tufts Dental Facilities (TDF), a university-state collaboration providing sustained statewide access to comprehensive oral health care for individuals with IDD.
METHODS: The TDF program was established in 1976 as the result of a class action lawsuit to improve medical and dental care for individuals with IDD residing at state institutions in Massachusetts. TDF, A partnership, between Tufts University School of Dental Medicine (TUSDM) and the Commonwealth of Massachusetts, is a network of seven dental clinics strategically positioned across the state. These clinics are specifically designed to meet the oral health needs of individuals with IDD. TUSDM\'s oral health providers with expertise in special care dentistry deliver comprehensive oral health care for over 6500 individuals with IDD, incorporating supportive care services and access to general anesthesia. Additionally, the program provides training in special care dentistry for dental residents and pre-doctoral dental students.
CONCLUSIONS: Leveraging state and university resources, TDF provides a model of a sustainable, long-term system for statewide access to oral health care for individuals with IDD.

UNASSIGNED: Fetal alcohol spectrum disorder (FASD) is a common developmental disability that requires lifelong and ongoing support but is often difficult to find due to the lack of trained professionals, funding, and support available. Technology could provide cost-effective, accessible, and effective support to those living with FASD and their caregivers.
UNASSIGNED: In this review, we aimed to explore the use of technology available for supporting people living with FASD and their caregivers.
UNASSIGNED: We conducted a scoping review to identify studies that included technology for people with FASD or their caregivers; focused on FASD; used an empirical study design; were published since 2005; and used technology for assessment, diagnosis, monitoring, or support for people with FASD. We searched MEDLINE, Web of Science, Scopus, Embase, APA PsycINFO, ACM Digital Library, JMIR Publications journals, the Cochrane Library, EBSCOhost, IEEE, study references, and gray literature to find studies. Searches were conducted in November 2022 and updated in January 2024. Two reviewers (CZC and HW) independently completed study selection and data extraction.
UNASSIGNED: In total, 17 studies exploring technology available for people with FASD showed that technology could be effective at teaching skills, supporting caregivers, and helping people with FASD develop skills.
UNASSIGNED: Technology could provide support for people affected by FASD; however, currently there is limited technology available, and the potential benefits are largely unexplored.

BACKGROUND: People with developmental disability have higher rates of mental health problems such as anxiety, depression, psychological distress, or a limited sense of belonging to a community. Extracurricular activity can help children and adolescents build social connections beyond family, increasing social capital, which may promote mental health in the transition into adulthood. Little is known about such associations among people with developmental disability.
OBJECTIVE: To examine associations of childhood extracurricular activity with mental health in young adulthood among people with and without developmental disability.
METHODS: Data: Panel Study of Income Dynamics (PSID, 1968-2017), its Child Development Supplement (1997, 2002, 2007) and its Transition into Adulthood Supplement (2005-2019) (n = 2801). Time diaries measured time in activity. Outcomes were psychological distress (Kessler K6) and flourishing (Mental Health Continuum-Short Form). Adjusted linear regressions modeled associations.
RESULTS: In nationally representative results, 9.6 % (95 % confidence interval, CI 7.8, 11.4) had a disability. Children without disability reported more average weekly time in group activity, 125.1 min (CI 113.2, 136.9) vs. 93.6 (CI 55.1, 132.0; not significant at conventional levels). In adjusted results, \"some\" group activity (0-180 weekly minutes) was associated with greater flourishing for those with developmental disability (0.89; CI 0.16, 1.61).
CONCLUSIONS: Among people with developmental disability, group activity in childhood was associated with greater flourishing in young adulthood. More research is needed to understand the complex nature of activity participation for children with developmental disabilities.