Advancing Health Policy and Outcomes for People With Intellectual or Developmental Disabilities: A Community-Led Agenda.

Importance: At least 10 million people in the United States have an intellectual and/or developmental disability (IDD). People with IDD experience considerably higher rates of poor overall health, chronic conditions including diabetes, mental health challenges, maternal mortality, and preventable deaths. This Special Communication proposes national goals based on a community-led consensus model that advances priority health outcomes for people with IDD and their caregivers/partners and identifies critical policy opportunities and challenges in achieving these goals. A community-led consensus agenda offers a foundation for focusing research, improving data collection and quality measurement, enhancing coverage and payment for services, and investing in a prepared clinical workforce and infrastructure in ways that align with lived experiences and perspectives of community members. Observations: People with IDD prioritize holistic health outcomes and tailored supports and services, driven by personalized health goals, which shift over their life course. Caregivers/partners need support for their own well-being, and easy access to resources to optimize how they support loved ones with IDD. Development of an adequately prepared clinical workforce to serve people with IDD requires national and regional policy changes that incentivize and structure training and continuing education. Ensuring effective and high-value coverage, payment, and clinical decisions requires investments in new data repositories and data-sharing infrastructure, shared learning across public and private payers, and development of new technologies and tools to empower people with IDD to actively participate in their own health care. Conclusions and Relevance: Consensus health priorities identified in this project and centered on IDD community members' perspectives are generalizable to many other patient populations. Public and private payers and regulators setting standards for health information technology have an opportunity to promote clinical data collection that focuses on individuals' needs, quality measurement that emphasizes person-centered goals rather than primarily clinical guidelines, and direct involvement of community members in the design of payment policies. Clinical education leaders, accrediting bodies, and investors/entrepreneurs have an opportunity to innovate a better prepared health care workforce and shared data infrastructure to support value-based care programs.

Exploring context for implementation of inclusive education for children with developmental disabilities in mainstream primary schools in Ethiopia.

A large gap in provision of services for children with developmental disabilities (DD) has been identified in Ethiopia, especially in the education system. Including children with disabilities in mainstream schools is encouraged by policies, but progress in this direction has been limited. This study aimed to explore stakeholders' perspectives on contextual factors relevant for inclusive education for children with DD in mainstream schools in Ethiopia, with a focus on Adis Ababa. Data were collected through semi-structured interviews with 39 local stakeholders, comprising caregivers of children with DD, school teachers and principals/managers, non-governmental organisation representatives, government officials, clinicians and academics/consultants. We used template analysis to code the data and map them onto domains of the Context and Setting dimensions of the Context and Implementation of Complex Interventions framework. Stakeholders discussed frameworks in the Legal and Ethical context endorsing the right of all children to education. However, they reported multiple reasons why children with DD in Ethiopia have limited access to education, either in special or mainstream schools. First, individual features, such as gender and support needs, discussed in the Epidemiological context, may affect the likelihood of a child with DD to be accepted in school. Transportation challenges are a key barrier in the Geographical context. Socio-economic and Socio-cultural contexts present barriers at the levels of the nation, school and family, mostly related to limited services and material and financial resources and limited awareness of DD. Stakeholders believe the currently limited but growing commitment in the Political context can support progress towards the removal of these barriers. Our findings can form the basis for development of an implementation plan that addresses such barriers and capitalises on existing facilitators.

Attending to Persons with Intellectual and/or Other Developmental Disorders in Crisis Settings.

Crisis response is growing across the United States with increasingly broad phone, text, and chat response systems that lead to triaging callers who may be in need of further outreach. This might include deploying a mobile crisis response team and/or referring a caller to a crisis stabilization unit. The information set forth earlier aims to help advance the field and individual practices to ensure that persons with intellectual and/or other developmental disorders receive equivalent care and treatment with information that helps focus on this population's unique features and needs.

Evaluation of adapted parent training for challenging behaviour in pre-school children with moderate to severe intellectual developmental disabilities: A randomised controlled trial.

OBJECTIVES: There is limited evidence on the effectiveness of parenting interventions to improve disruptive behaviour in children with intellectual developmental disabilities. This clinical trial evaluated whether an adapted group parenting intervention for preschool children with intellectual developmental disabilities who display challenging behaviour is superior to treatment as usual in England. STUDY DESIGN: 261 children aged 30-59 months with moderate to severe intellectual developmental disabilities and challenging behaviour were randomised to either the intervention (Stepping Stones Triple P) and treatment as usual or treatment as usual alone. The primary outcome was the parent-rated Child Behaviour Checklist at 52 weeks after randomisation. A health economic evaluation was also completed. RESULTS: We found no significant difference between arms on the primary outcome (mean difference -4.23; 95% CI: -9.99 to 1.53; p = 0.147). However, a subgroup analysis suggests the intervention was effective for participants randomised before the COVID-19 pandemic (mean difference -7.12; 95% CI: -13.44 to -0.81; p = 0.046). Furthermore, a complier average causal effects analysis (mean difference -11.53; 95% CI: -26.97 to 3.91; p = 0.143) suggests the intervention requires participants to receive a sufficient intervention dose. The intervention generated statistically significant cost savings (-£1,057.88; 95% CI -£3,218.6 to -£46.67) but the mean point estimate in Quality Adjusted Life Years was similar in both groups. CONCLUSION: This study did not find an effect of the intervention on reducing challenging behaviour, but this may have been influenced by problems with engagement. The intervention could be considered by services as an early intervention if families are supported to attend, especially given its low cost.

Infant and Early Childhood Mental Health (IECMH) and Early Childhood Intervention: Intentional Integration.

Infant and Early Childhood Mental Health (IECMH) is a multidisciplinary field of inquiry, practice, and policy concerned with enhancing the social-emotional competence of infants and young children. Early Childhood Intervention (ECI) is a system of services that supports infants and toddlers with disabilities and their families. ECI providers promote a child's development in all domains, including social-emotional. The purpose of this paper is to describe how two systems, Early Childhood Intervention and Infant Early Childhood Mental Health, collaborate when serving children who have developmental delays or disabilities and their families and other caregivers. We will discuss two models used to promote social-emotional development, the Pyramid Model and IECMH Consultation, and provide three examples that demonstrate how ECI and IECMH intersect at both the family, classroom, and system levels.

Creating Family-Centred Support for Children with Developmental Disabilities in Africa: Examples of Local Community Interventions.

Preschoolers with disabilities and their family caregivers are overlooked by many public health initiatives, especially in low-income countries. Yet they can benefit from early intervention to promote their development soon after birth and to provide a better quality of life for their families. In this paper, we describe how a community-based approach has been implemented with minimal funding in two areas in Zimbabwe: a township in Harare and in rural areas of Manicaland Province. Our aim in sharing this information-allied with references to research studies recently undertaken in Africa-is that it will enable similar support to be replicated in other communities by local personnel. A logic model is used to describe the situation in which the two projects work, the various inputs they have provided to their community, and the different forms of support they have offered to the children and their caregivers. The project outputs are listed in terms of the number of beneficiaries helped and the activities undertaken. The outcomes achieved for the children, families, and communities are reported. The sustainability and extensions of community-based projects to address unmet needs are discussed. The main conclusion is that disadvantaged communities can be energised to address the needs of their most marginalised residents.

Oral Health Care for Children and Youth With Developmental Disabilities: Clinical Report.

Oral health is an essential component of overall health for all individuals. The oral health of children and youth with developmental disabilities (CYDD) involves unique characteristics and needs of which pediatricians and pediatric clinicians can be aware. Risk for oral disease in CYDD is multifactorial and includes underlying medical conditions, medications, and ability to participate in preventive oral health care and treatment, and lack of access to providers is common for this population despite being eligible for Medicaid. Pediatric clinicians are uniquely positioned to support the oral health needs of CYDD and their families through the medical home. This clinical report aims to inform pediatric clinicians about the unique oral health needs of CYDD. It provides guidance on assessing caries risk and periodontal status using structured screening instruments; understanding dental trauma, the role of diet and caries risk, trauma prevention, and malocclusion; and providing anticipatory guidance on oral hygiene that includes tooth brushing, use of fluoridated toothpaste, assessing community water fluoridation, advocating for a dental home by 1 year of age, and transition to adult dental care as part of adolescent health care. It also highlights special considerations for dental treatment rendered under sedation or general anesthesia that CYDD may need. Pediatric clinicians can help reduce risk of CYDD developing dental disease by understanding the unique needs of their patients and their barriers to accessing oral health care in their community, communicating with the child's dental home, and advocating for safe and accessible dental procedures.

Evaluating a Novel Disability Education and Awareness Event for Health Professions Trainees.

BACKGROUND: People with intellectual and developmental disabilities (IDD) are at high risk for unmet health care needs and face barriers to equitable care, yet few health professions students receive adequate training to meet these needs. OBJECTIVES: An interactive panel discussion with Special Olympics Pennsylvania (SOPA) athletes and staff was planned and implemented so that health professions students/trainees would gain knowledge of IDD, health barriers, SOPA resources, and volunteer opportunities. METHODS: Panelists included two SOPA athletes and their mentors; questions solicited responses about personal health care experiences (Fall 2019). Attendees completed a mixed-methods post-event survey capturing event satisfaction, reflections, and interest in learning more about patients with IDD. RESULTS: Sixty individuals attended, and 43 (72%) completed post-event evaluation. Attendees reported high satisfaction (88%), desire for future trainings (100%), and interest in learning about communicating (88%), providing care (88%), and addressing IDD health barriers (91%). CONCLUSIONS: Collaborative community panels could be effective in engaging health care students in discussion about caring for patients with IDD.

Early Childhood Care Coordination Through 211: A Randomized Clinical Trial.

BACKGROUND AND OBJECTIVES: Early intervention services can improve outcomes for children with developmental delays. Health care providers, however, often struggle to ensure timely referrals and services. We tested the effectiveness of telephone-based early childhood developmental care coordination through 211 LA, a health and human services call center serving Los Angeles County, in increasing referral and enrollment in services. METHODS: In partnership with 4 clinic systems, we recruited and randomly assigned children aged 12 to 42 months with upcoming well-child visits and without a known developmental delay, to intervention versus usual care. All children received developmental screening and usual clinic care. Intervention children also received telephone connection to a 211 LA early childhood care coordinator who made referrals and conducted follow-up. Primary outcomes at a 6-month follow-up included parent-reported referral and enrollment in developmental services. Secondary outcomes included referral and enrollment in early care and education (ECE). Logistic regression models were used to estimate the odds of outcomes, adjusted for key covariates. RESULTS: Of 565 families (282 intervention, 283 control), 512 (90.6%) provided follow-up data. Among all participants, more intervention than control children were referred to (25% vs 16%, adjusted odds ratio [AOR] 2.25, P = .003) and enrolled in (15% vs 9%, AOR 2.35, P = .008) ≥1 service, and more intervention than control children were referred to (58% vs 15%, AOR 9.06, P < .001) and enrolled in (26% vs 10%, AOR 3.75, P < .001) ECE. CONCLUSIONS: Telephone-based care coordination through 211 LA is effective in connecting young children to developmental services and ECE, offering a potentially scalable solution for gaps and disparities.

Establishing Best Practices in Telehealth Care for Adults with Developmental Disabilities in the United States: An e-Delphi Study.

Background: Telehealth care is now a key element of mainstream health care since the COVID-19 pandemic, with all types of health care providers joining the digital revolution. As a population experiencing health care disparities, adults with developmental disabilities and their supporters have described variable experiences with telehealth care that contribute to overall care quality and health outcomes. Methods: This e-Delphi study established consensus on best practices in telehealth care for adults with developmental disabilities in the United States. Online surveys and videoconferencing interviews were conducted with 44 expert panelists with experience with telehealth care and developmental disabilities, including adults with developmental disabilities, family members, direct support professionals, nurses, and health care providers. Results: Three rounds of surveys resulted in a set of 9 guidelines consisting of 42 items. The guidelines addressed 1) appropriate situations for telehealth care, 2) communication needs and preferences, 3) support person collaboration, 4) education and anticipatory guidance, 5) reminders, 6) coordination of care, 7) equitable and fair access, 8) privacy and safety, and 9) evidence-based practice. Conclusion: Health care providers can adopt these best practice guidelines to ensure telehealth care is provided equitably and safely to adults with developmental disabilities. Policy advocacy is needed for the uptake of these guidelines and for health care providers and adults with developmental disabilities to access the resources needed for safe and effective telehealth care use.

Implementation of Learn to Play Therapy for Children in Special Schools.

IMPORTANCE: Play is the primary occupation in childhood and fundamental to occupational therapy practice. OBJECTIVE: To evaluate a play intervention in special school settings. DESIGN: Pre- and postinvolvement of a 7-mo play program. SETTING: Four special schools in Victoria, Australia, for children with IQs < 70. PARTICIPANTS: Thirty-eight children with diagnoses including intellectual disability, autism, and global developmental delay, 7 teachers, 2 speech pathologists, and 2 occupational therapists. INTERVENTION: Learn to Play Therapy for 1 hr per week over a 7-mo period. OUTCOMES AND MEASURES: Pre-post outcome measures included children's pretend play skills, language, social skills, emotional regulation, and academic competence. RESULTS: Mean age of 38 children (15 girls and 23 boys) at baseline was 5 yr 7 mo (SD = 0.46 yr). Results showed significant changes in children's pretend play (p = .03), ability to recall sentences (p = .02), social skills (p = .022), and academic competence (p = .012). Learn to Play had a large effect on children's narrative skills (d = 2.72). At follow-up, object substitution at baseline influenced expressive language (p < .001), narrative mean language utterance (MLU; p = .015), social skills (p < .001), and academic competence (p < .001); elaborate play at baseline plus time influenced social skills (p < .001); and elaborate play at baseline influenced narrative MLU (p =. 016), sentence recall (p = .009), and academic competence (p = .001). CONCLUSIONS AND RELEVANCE: Embedding pretend play within practice positively influenced children's language, narrative, social, and academic skills. Plain-Language Summary: This study adds to the limited research on play-based therapy programs in special school settings for children with an IQ of less than 70. Children participated in Learn to Play Therapy, during which an occupational therapist, who has observed and assessed the child's play and understands the child's play abilities, played beside the child. Learn to Play Therapy is a child-centered therapy that is used to increase a child's ability to self-initiate and enjoy pretend play. The positive impacts of supporting the children's pretend play ability were highlighted by increases in their pretend play, language, social skills, academic competence, and narrative language after participating in Learn to Play Therapy in their special schools.

Exploring needs and requirements for a prototype device measuring physical activity in pediatric physical therapy: A qualitative study.

AIMS: To analyze needs and requirements of Pediatric Physical Therapists (PPTs), parents, children and adolescents with and without developmental disabilities in the future use of an activity monitor prototype (AM-p) in everyday clinical practice. METHODS: Qualitative exploratory study with a thematic analysis approach, based on Braun and Clarke's six steps. Codes derived from the analysis and central themes were collated, based on Fleuren et al.'s groupings of determinants. RESULTS: We interviewed 25 PPTs, 12 parents, and 12 children and adolescents. Within four groupings of determinants, we found nine themes: 1) development of information materials; 2) application: output visualization and ease of use; 3) design; 4) relevance and acceptance; 5) shared decision-making; 6) compatibility in daily living; 7) finances, 8) time, and 9) legislation and regulations. CONCLUSIONS: End-users have similar basic needs, with individual fine-tuning to be addressed during further development of the AM-p. A child-friendly design, information material, and an easy-to-use application to read and interpret results, need to be developed. Efficient training for PPTs is important for the use of the AM-p and analysis of results. Communication between PPTs and children as well as parents enhances shared decision-making. We recommend involving diverse end-users to enable maximum customization of the AM-p.

Creating Family-Centred Support for Preschoolers with Developmental Disabilities in Low-Income Countries: A Rapid Review to Guide Practitioners.

Preschoolers with disabilities and their caregivers have been neglected in health and social service provision in most low-income countries and arguably also in low-resourced areas of more affluent nations. Yet as this rapid review of the published literature identifies, there are low-cost, evidence-based strategies to address their needs that can be implemented in communities by local people. Five key features of the necessary supports are examined. First, the leadership functions required to create and implement the support services. Second, the family-centred, home-based support provided to caregivers and the personnel undertaking this form of support. Third, providing opportunities for peer support to flourish and encouraging the formation of advocacy groups across families. Fourth, mobilizing the support of significant groups within the community: notably, traditional healers and leaders, health services and poverty alleviation initiatives. Fifth, devising ways in which preschool educational opportunities can be offered to children as a prelude to their inclusion in primary schools. The review serves a further purpose. It provides an example of how public health researchers and academics could achieve more rapid implementation of evidence-based knowledge into existing and new support services through dissemination to community practitioners.

Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases.

Genetic counseling and treatment options for rare developmental disabilities (DDs) have been revolutionized by the opportunities made possible by using massively parallel sequencing for diagnostic purposes [...].

Perceptions on support, challenges and needs among parents and caregivers of children with developmental disabilities in Croatia, North Macedonia and Serbia: a cross-sectional study.

BACKGROUND: Parents/caregivers of children with developmental disabilities (CDD) have a wide range of support needs and there are various interventions available. Support, challenges, and needs among parents/caregivers of CDD likely vary in different geographical settings. This study aimed to analyze the perceptions of support, challenges, and needs among parents/caregivers of CDD in Croatia, North Macedonia, and Serbia. METHODS: We conducted a cross-sectional study in March-April 2023 within the Erasmus + SynergyEd project. The eligible participants were parents and caregivers of CDD in Croatia, North Macedonia, and Serbia, who filled out a modified Caregiver Needs Survey online. RESULTS: Among 953 participants, 542 (57%) were from Croatia, 205 (21%) were from North Macedonia and 206 (22%) were from Serbia. The most common diagnosis of participants' children was autism spectrum disorder (26%). The child most often received the first diagnosis at the median of 2 years, diagnosed by a team of professionals. More than half (58%) of children attended preschool and public school, while 22% did not attend any schooling. Additional support from the state/city/county was received by 66% of CDD. Most participants declared not participating in association/organization for family support. Participants mostly (68%) used experts who work with the child as a source of information about their child's condition, followed by the Internet (53%). In the last 12 months, 60% of participants had difficulties with the availability of services in their area or problems getting appointments. The biggest problem in getting support was ensuring the child's basic rights were protected. Participants stated that ensuring greater rights for CDD was the greatest need for their families. CONCLUSION: Parents/caregivers of CDD in Croatia, North Macedonia, and Serbia faced multiple challenges, but most of them were satisfied with the services provided to their children. Future efforts to develop policies and services related to CDD should consider the opinions of their parents/caregivers and disparities in access to services.

Trainee advocacy for medical education on the care of people with intellectual and/or developmental disabilities: a sequential mixed methods analysis.

BACKGROUND: Medical trainees (medical students, residents, and fellows) are playing an active role in the development of new curricular initiatives; however, examinations of their advocacy efforts are rarely reported. The purpose of this study was to understand the experiences of trainees advocating for improved medical education on the care of people with intellectual and/or developmental disabilities. METHODS: In 2022-23, the authors conducted an explanatory, sequential, mixed methods study using a constructivist paradigm to analyze the experiences of trainee advocates. They used descriptive statistics to analyze quantitative data collected through surveys. Participant interviews then yielded qualitative data that they examined using team-based deductive and inductive thematic analysis. The authors applied Kern's six-step approach to curriculum development as a framework for analyzing and reporting results. RESULTS: A total of 24 participants completed the surveys, of whom 12 volunteered to be interviewed. Most survey participants were medical students who reported successful advocacy efforts despite administrative challenges. Several themes were identified that mapped to Steps 2, 4, and 5 of the Kern framework: "Utilizing Trainee Feedback" related to Needs Assessment of Targeted Learners (Kern Step 2); "Inclusion" related to Educational Strategies (Kern Step 4); and "Obstacles", "Catalysts", and "Sustainability" related to Curriculum Implementation (Kern Step 5). CONCLUSIONS: Trainee advocates are influencing the development and implementation of medical education related to the care of people with intellectual and/or developmental disabilities. Their successes are influenced by engaged mentors, patient partners, and receptive institutions and their experiences provide a novel insight into the process of trainee-driven curriculum advocacy.

Nurturing care practices for children with developmental disabilities in sub-Saharan Africa: A scoping review protocol.

BACKGROUND: The majority of children with neurodevelopmental disorders (NDDs) reside in low- and middle-income countries (LMICs). NDDs are a public health concern in countries in sub-Saharan Africa (SSA). Nurturing care has been recommended as a pathway for addressing the developmental needs and unlocking the full potential of children, including those with NDDs. However, little information exists on the strategies to support children with NDDs using the Nurturing Care Framework in many countries in SSA. This review aims to synthesize information on nurturing care practices for children with NDDs in SSA. The review will also determine gaps in the provision of nurturing care for children with NDDs. Further, the review will highlight the drivers of care as well as the experiences of the caregivers. METHODS: The review will be implemented in six steps: specification of the research question, identification of relevant studies, selection of studies to be included, extracting, mapping, and charting the data, collating, summarizing, and reporting the results, and stakeholder consultation. We propose a database search followed by a manual search for the literature synthesis. We will search the following electronic databases: PubMed, ScienceDirect, Scopus, Open Grey and African Journals Online (AJOL). All studies published after May 2018 to May 2023 that include relevant terms will be identified and included. The research team will develop a data extraction form for use in capturing relevant information from each of the included studies. A patterning chart that will summarize and analyze the key findings of each article will be created. DISCUSSION: We anticipate that the study will provide evidence on the existing nurturing care practices and unearth gaps in the provision of nurturing care for children with NDDs. Key determinants of care and the experiences of the parents/caregivers of children will also be identified. The study will provide key recommendations on interventions to improve the quality of care for children with NDDs. Through this study, awareness of the unmet nurturing care needs of these children will be increased. The evidence generated may assist policymakers and stakeholders in addressing the needs of children with NDDs.

Developmental surveillance and screening practices in a pediatric oncology clinic: Initial progress of a quality improvement study.

BACKGROUND: Pediatric cancer patients' oncology teams regularly take on a primary care role, but due to the urgent nature of cancer treatment, developmental screenings may be deprioritized. This leaves patients at risk of developmental diagnoses and referrals being delayed. AIMS: Clarify the current developmental surveillance and screening practices of one pediatric oncology team. MATERIALS AND METHODS: Researchers reviewed charts for patients (n = 66) seen at a pediatric oncology clinic in a suburban academic medical center to determine engagement in developmental screening (including functioning around related areas such as speech, neurocognition, etc.) and referrals for care in these areas. RESULTS: Developmental histories were collected from all patients through admission history and physical examination (H&P), but there was no routinized follow-up. Physicians did not conduct regular developmental screening per American Academy of Pediatrics guidelines for any patients but identified n = 3 patients with needs while the psychology team routinely surveilled all patients seen during this time (n = 41) and identified n = 18 patients as having delays. DISCUSSION: Physicians did not routinely screen for development needs beyond H&P and were inconsistent in developmental follow-up/referrals. Integrated psychologists were key in generating referrals for developmental-based care. However, many oncology patients were not seen by psychologists quickly or at all, creating a significant gap in care during a crucial developmental period. CONCLUSION: The case is made for further routinization of ongoing developmental screening in pediatric oncology care.

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.

The NR4A2 gene encodes an orphan transcription factor of the steroid-thyroid hormone-retinoid receptor superfamily. This review focuses on the clinical findings associated with the pathogenic variants so far reported, including three unreported cases. Also, its role in neurodegenerative diseases, such as Parkinson's or Alzheimer's disease, is examined, as well as a brief exploration on recent proposals to develop novel therapies for these neurological diseases based on small molecules that could modulate NR4A2 transcriptional activity. The main characteristic shared by all patients is mild to severe developmental delay/intellectual disability. Moderate to severe disorder of the expressive and receptive language is present in at least 42%, while neuro-psychiatric issues were reported in 53% of patients. Movement disorders, including dystonia, chorea or ataxia, are described in 37% patients, although probably underestimated because of its frequent onset in late adolescence-young adulthood. Finally, epilepsy was surprisingly present in 42% of patients, being drug-resistant in three of them. The age at onset varied widely, from five months to twenty-six years, as did the classification of epilepsy, which ranged from focal epilepsy to infantile spasms or Lennox-Gastaut syndrome. Accordingly, we propose that NR4A2 should be considered as a first-tier target gene for the genetic diagnosis of developmental and epileptic encephalopathy.