SMC1A epilepsy syndrome: clinical data from a large international cohort.

SMC1A epilepsy syndrome or developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85, OMIM #301044) is an X-linked neurologic disorder associated with mutations of the SMC1A gene, which is also responsible for about 5% of patients affected by Cornelia de Lange syndrome spectrum (CdLS). Only described in female patients, SMC1A epilepsy syndrome is characterized by the onset of severe refractory epileptic seizures in the first year of life, global developmental delay, a variable degree of intellectual disability, and dysmorphic facial features not typical of CdLS. This was a descriptive observational study for the largest international cohort with this specific disorder. The main goal of this study was to improve the knowledge of the natural history of this phenotype with particular attention to the psychomotor development and the epilepsy data. The analyzed cohort shows normal prenatal growth with the subsequent development of postnatal microcephaly. The incidence of neonatal problems (seizures and respiratory compromise) is considerable (51.4%). There is a significant prevalence of central nervous system (20%) and cardiovascular malformations (20%). Motor skills are generally delayed. The presence of drug-resistant epilepsy is confirmed; the therapeutic role of a ketogenic diet is still uncertain. The significant regression of previously acquired skills following the onset of seizures has been observed. Facial dysmorphisms are variable and no patient shows a classic CdLS phenotype. To sum up, SMC1A variants caused drug-resistant epilepsy in these patients, more than two-thirds of whom were shown to progress to developmental and epileptic encephalopathy. The SMC1A gene variants are all different from each other (apart from a couple of monozygotic twins), demonstrating the absence of a mutational hotspot in the SMC1A gene. Owing to the absence of phenotypic specificity, whole-exome sequencing is currently the diagnostic gold standard.

Adherence to adhesive patch electrocardiographic monitoring among adults with disabilities.

BACKGROUND: Individuals with developmental and/or intellectual disabilities (I/DD) are at a greater risk for atrial fibrillation (AF), the most common type of cardiac arrhythmia. AF is associated with heart failure, stroke, poor mental health, and reduced quality of life. Management and treatment decisions are based on the ability to detect AF; however, noninvasive, remote cardiac monitoring may not be tolerated by individuals with I/DD. OBJECTIVE: To examine adherence to the placement of an ambulatory cardiac rhythm monitoring patch device by adult patients with I/DD. METHODS: Investigators extracted chart data from a consecutive series of adult patients (18 years+) who received the patch device as part of standard treatment at an adult health center between November 1, 2015 and October 31, 2019. RESULTS: A total of 95 patients were included in data analysis. Average age of subjects was 53.8 ± 13.9 years (range: 20.2-88.5); 66.7% were male. All subjects had intellectual disabilities as follows: mild, 37.9%; moderate, 29.5%; severe, 21.0%; and, profound, 11.6%. With a prescribed duration of 14 days, subjects wore the device a median (interquartile range [IQR]) of 12.2 days (4.1-14.0); total analysis time was a median of 9.5 days (3.4-13.5). A total of 29 subjects (30.5%) received cardiac diagnoses not previously identified (median = 1 new diagnosis; range: 1-5). CONCLUSIONS: This pilot study suggests the possible utility of an ambulatory monitoring patch device in an adult population with I/DD. Investigators recommend larger studies to confirm such preliminary findings to ultimately improve clinical management and patient quality of life.

Perceived barriers and facilitators to infection prevention and control in Dutch residential care facilities for people with intellectual and developmental disabilities: a cross-sectional study.

BACKGROUND: Adequate implementation of infection prevention and control (IPC) in residential care facilities (RCFs) for people with intellectual and developmental disabilities (IDDs) is crucial to safeguarding this vulnerable population. Studies in this field are scarce. This study aimed to identify perceived barriers to and facilitators of IPC among professionals working in these settings, along with recommendations to improve IPC, to inform the development of targeted interventions. METHODS: We administered an online questionnaire to 319 professionals from 16 Dutch RCFs for people with IDDs (March 2021-March 2022). Perceived multilevel barriers and facilitators (guideline, client, interpersonal, organisational, care sector, and policy level) were measured on a 5-point Likert scale (totally disagree-totally agree). Recommendations were assessed using a 5-point Likert scale (not at all helpful-extremely helpful), supplemented by an open-ended question. Barriers, facilitators, and recommendations were analysed by descriptive statistics. Open answers to recommendations were analysed through thematic coding. RESULTS: Barriers to IPC implementation included the client group (e.g., lack of hygiene awareness) (63%), competing values between IPC and the home-like environment (42%), high work pressure (39%), and the overwhelming quantity of IPC guidelines/protocols (33%). Facilitators included perceived social support on IPC between professionals and from supervisors (90% and 80%, respectively), procedural clarity of IPC guidelines/protocols (83%), and the sense of urgency for IPC in the organisation (74%). Main recommendations included the implementation of clear IPC policies and regulations (86%), the development of a practical IPC guideline (84%), and the introduction of structural IPC education and training programmes (for new staff members) (85%). Professionals also emphasised the need for IPC improvement efforts to be tailored to the local care context, and to involve clients and their relatives. CONCLUSIONS: To improve IPC in disability care settings, multifaceted strategies should be adopted. Initial efforts should involve clients (and relatives), develop a practical and context-specific IPC guideline, encourage social support among colleagues through interprofessional coaching, reduce workload, and foster an IPC culture including shared responsibility within the organisation.

Tailored vs. General COVID-19 prevention for adults with mental disabilities residing in group homes: a randomized controlled effectiveness-implementation trial.

BACKGROUND: People with serious mental illness (SMI) and people with intellectual disabilities/developmental disabilities (ID/DD) are at higher risk for COVID-19 and more severe outcomes. We compare a tailored versus general best practice COVID-19 prevention program in group homes (GHs) for people with SMI or ID/DD in Massachusetts (MA). METHODS: A hybrid effectiveness-implementation cluster randomized control trial compared a four-component implementation strategy (Tailored Best Practices: TBP) to dissemination of standard prevention guidelines (General Best-Practices: GBP) in GHs across six MA behavioral health agencies. GBP consisted of standard best practices for preventing COVID-19. TBP included GBP plus four components including: (1) trusted-messenger peer testimonials on benefits of vaccination; (2) motivational interviewing; (3) interactive education on preventive practices; and (4) fidelity feedback dashboards for GHs. Primary implementation outcomes were full COVID-19 vaccination rates (baseline: 1/1/2021-3/31/2021) and fidelity scores (baseline: 5/1/21-7/30/21), at 3-month intervals to 15-month follow-up until October 2022. The primary effectiveness outcome was COVID-19 infection (baseline: 1/1/2021-3/31/2021), measured every 3 months to 15-month follow-up. Cumulative incidence of vaccinations were estimated using Kaplan-Meier curves. Cox frailty models evaluate differences in vaccination uptake and secondary outcomes. Linear mixed models (LMMs) and Poisson generalized linear mixed models (GLMMs) were used to evaluate differences in fidelity scores and incidence of COVID-19 infections. RESULTS: GHs (n=415) were randomized to TBP (n=208) and GBP (n=207) including 3,836 residents (1,041 ID/DD; 2,795 SMI) and 5,538 staff. No differences were found in fidelity scores or COVID-19 incidence rates between TBP and GBP, however TBP had greater acceptability, appropriateness, and feasibility. No overall differences in vaccination rates were found between TBP and GBP. However, among unvaccinated group home residents with mental disabilities, non-White residents achieved full vaccination status at double the rate for TBP (28.6%) compared to GBP (14.4%) at 15 months. Additionally, the impact of TBP on vaccine uptake was over two-times greater for non-White residents compared to non-Hispanic White residents (ratio of HR for TBP between non-White and non-Hispanic White: 2.28, p = 0.03). CONCLUSION: Tailored COVID-19 prevention strategies are beneficial as a feasible and acceptable implementation strategy with the potential to reduce disparities in vaccine acceptance among the subgroup of non-White individuals with mental disabilities. TRIAL REGISTRATION: ClinicalTrials.gov, NCT04726371, 27/01/2021. https://clinicaltrials.gov/study/NCT04726371 .

Pregnancy Planning and its Association with Autism Spectrum Disorder: Findings from the Study to Explore Early Development.

OBJECTIVES: To examine associations between pregnancy planning and autism spectrum disorder (ASD) in offspring. METHODS: The Study to Explore Early Development (SEED), a multi-site case-control study, enrolled preschool-aged children with ASD, other DDs, and from the general population (POP). Some children with DDs had ASD symptoms but did not meet the ASD case definition. We examined associations between mother's report of trying to get pregnant (pregnancy planning) and (1) ASD and (2) ASD symptomatology (ASD group, plus DD with ASD symptoms group combined) (each vs. POP group). We computed odds ratios adjusted for demographic, maternal, health, and perinatal health factors (aORs) via logistic regression. Due to differential associations by race-ethnicity, final analyses were stratified by race-ethnicity. RESULTS: Pregnancy planning was reported by 66.4%, 64.8%, and 76.6% of non-Hispanic White (NHW) mothers in the ASD, ASD symptomatology, and POP groups, respectively. Among NHW mother-child pairs, pregnancy planning was inversely associated with ASD (aOR = 0.71 [95% confidence interval 0.56-0.91]) and ASD symptomatology (aOR = 0.67 [0.54-0.84]). Pregnancy planning was much less common among non-Hispanic Black mothers (28-32% depending on study group) and Hispanic mothers (49-56%) and was not associated with ASD or ASD symptomatology in these two race-ethnicity groups. CONCLUSION: Pregnancy planning was inversely associated with ASD and ASD symptomatology in NHW mother-child pairs. The findings were not explained by several adverse maternal or perinatal health factors. The associations observed in NHW mother-child pairs did not extend to other race-ethnicity groups, for whom pregnancy planning was lower overall.

The inequity of education, health and care plan provision for children and young people with intellectual and developmental disabilities.

BACKGROUND: Children and young people (CYP) with intellectual and developmental disabilities (IDDs) have significant additional educational needs compared with the general population. In England, the government has established a system of education, health and care plans (EHCPs) to support children with special educational needs and disabilities, but disparities exist between the degree of need and the availability of support. We conducted a prospective UK national cohort study (IMAGINE) of children with rare pathogenic genomic variants, all of which are associated with IDD, to investigate associated neuropsychiatric risk. Subsequently, we obtained information from the UK's National Pupil Database on their educational progress through the state school system. We aimed to identify whether they had received EHCP provision and whether that support was associated with their family's socioeconomic status, region of domicile, ethnicity, sex, primary special educational needs (SEN) type, academic performance and mental health well-being. METHODS: We recruited 2738 CYP from England into the IMAGINE study between 2014 and 2019. The educational histories of the participants (6-28 years old, mean ± standard deviation = 14 ± 4 years, 56% male) were obtained from the Department for Education's National Pupil Database in 2021. Educational data included attainment scores from the Early Year Foundation Stage (<5 years) to key stage 4 (15-16 years). Each family was assigned an index of multiple deprivation (IMD) score based on their home address postcode. Parents or carers rated their child's emotional and behavioural adjustment on the Strengths and Difficulties Questionnaire (SDQ). The association between receiving an EHCP and the child's IMD score, eligibility for free school meals, English region of domicile, ethnicity, sex, primary SEN type, academic attainment and SDQ score was investigated. RESULTS: In this cohort, 78% of participants had received an EHCP. CYP living in the most deprived IMD deciles were substantially less likely to receive EHCP support than those in the least deprived decile, irrespective of their degree of intellectual developmental disability, academic performance or associated mental health problems. There were no sex differences. Children of Asian heritage were more likely to have been granted an EHCP than White children from equivalent IMD deciles. There were striking regional disparities. Participants living in London were significantly more likely to have been awarded an EHCP than participants living anywhere else in England, regardless of their IMD decile; those in the least deprived decile had almost 100% EHCP provision. CONCLUSIONS: This study found evidence for nationwide regional inconsistencies in the awarding of EHCP to CYP with significant intellectual impairments of known genetic aetiology. Disparities in funds available to education authorities could be a contributory factor. EHCP support was potentially influenced by how strongly a parent advocates for their child.

A systematic review of the psychometric properties of tools for measuring depression in youths with intellectual disability.

While youths with intellectual disability (ID) have increased vulnerability for depressive disorders, cognitive problems and combined functional barriers make them less prone to receive adequate treatments. A systematic review of the literature was conducted (PROSPERO Registration number: CRD42022347703) based on several databases from 1980 to 2022 to examine the quality of tools for measuring depression in children and adolescents with ID. The COSMIN (COnsensus-based Standards for the selection of health status Measurement Instruments) checklist was used to assess several psychometric domains. Twelve studies evaluated the properties of six tools for measuring depression in youths with ID. The Center for Epidemiologic Studies Depression Scale-Intellectual Disability (CESD-ID) was the only scale with at least five domains of psychometric properties assessed to have strong or moderate evidence. Based on the reviewed findings, tools specifically developed for populations with developmental disabilities should be considered first in order to screen depression in youths with ID. Much work is required to confirm their validity in clinical samples with patients with a complex form of developmental disabilities. As a complement to self- and caregivers-report questionnaires, clinician rating scales were considered useful to catch the full picture of depression in youths with ID, in particular associated behavioral expressions. Their validity received little scrutiny and certainly deserve more attention to improve care practice of youths with ID.

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.

Oral hygiene changes & compliance with telemonitoring device in individuals with intellectual/developmental disabilities: a randomized controlled crossover trial.

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. MATERIALS AND 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. CLINICAL RELEVANCE: Using telemonitoring devices in the oral health management of individuals with intellectual and developmental disabilities can improve their oral health quality.

Mothering a Child With Complexity and Rarity: A Narrative Inquiry Exploring Prader-Willi Syndrome.

Daily experiences of mothers caring for children with Prader-Willi syndrome (PWS) are largely unknown and unvoiced. Knowledge of PWS has generally focused on pathology of the disorder. This emphasis overlooks the challenging moments of everyday life caring for children with PWS. Storied accounts of mothers caring for children with PWS offer expanded narratives to medicalized descriptions of experience. An understanding of everyday challenges in managing physical and mental health issues of PWS including hyperphagia and anxiety may create shifts in social and clinical perspectives. This understanding could improve practices in health and social care for families with PWS. This narrative inquiry studied everyday experience using storied accounts. Participants were mothers caring for children aged 3-17 years with genetically confirmed PWS who were experiencing hyperphagia. Four participants were recruited, and each interviewed 8-12 times over 12 months. Field texts and narrative accounts were co-composed through a collaborative process of analysis. Engaging with participants' day-to-day experiences offered insights into their work of nurturing, caring, and contributing to the care of a child with PWS. Narrative threads focused on complexity and rarity and include the desire to be normal, how ordinary becomes extraordinary, isolation, behaviors and normative standards, and alternative stories of mothering. Recommendations for practice and policy include (a) challenges of mothering a child with complexity, (b) moving beyond functionality and impairment to participation and quality of life, (c) re-storying narratives and supports for families, and (d) engaging with mothers to determine care priorities.

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.

Effects of Texas State Agency Integration on Mental Health Service Use Among Individuals with Co-occurring Cognitive Disabilities and Mental Health Conditions.

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.

Intellectual and developmental disabilities in Ontario's criminal justice and forensic mental health systems: Using data to tell the story.

BACKGROUND: International studies show that adults with intellectual and developmental disabilities (IDD) are disproportionately represented in the criminal justice and forensic mental health systems; however, it is difficult to capture their involvement across systems in any one jurisdiction. AIMS: The current study aimed to estimate the prevalence of IDD across different parts of the criminal justice and forensic mental health systems in Ontario and to describe the demographic and clinical profiles of these individuals relative to their counterparts without IDD. METHODS: This project utilised administrative data to identify and describe the demographic and clinical characteristics of adults with IDD and criminal justice or forensic involvement across four sectors: federal correctional facilities, provincial correctional facilities, forensic inpatient mental health care and community mental health programmes. Questions were driven by and results were contextualised by a project advisory group and people with lived experience from the different sectors studied, resulting in a series of recommendations. RESULTS: Adults with IDD were over-represented in each of the four settings, ranging from 2.1% in federal corrections to 16.7% in forensic inpatient care. Between 20% (forensic inpatient) and 38.4% (provincial corrections) were under the age of 25 and between 34.5% (forensic inpatient) and 41.8% (provincial corrections) resided in the lowest income neighbourhoods. Medical complexity and rates of co-occurring mental health conditions were higher for people with IDD than those without IDD in federal and provincial corrections. CONCLUSIONS: Establishing a population-based understanding of people with IDD within these sectors is an essential first step towards understanding and addressing service and care needs. Building on the perspectives of people who work in and use these systems, this paper concludes with intervention recommendations before, during and after justice involvement.

Cognitive reserve proxies for individuals with intellectual developmental disability: A scoping review.

BACKGROUND: Cognitive reserve (CR) has not been studied in people with Intellectual Developmental Disability, a population with a high incidence of dementia. Commonly adopted CR proxies should be adapted to reflect more specifically the experiences of people with Intellectual Developmental Disability. METHOD: This scoping review intended to identify CR proxies relevant to people with this condition. RESULTS: Some of these were the same already detected in a population without intellectual disabilities (education, occupation, physical activity, leisure, community and social activities); others were found to be specifically relevant for this population: type of schooling, parental educational level, environmental stimulation and living place. CONCLUSIONS: These proxies need to be considered in studies on CR and Intellectual Developmental Disability and in clinical practice. Research on the protective effect of CR aims to encourage policies promoting lifestyle-based educational and preventive interventions and overcome participation barriers for people with Intellectual Developmental Disability.

Promoting Cycling Skills and Participation with Two-Wheel Bike Riding for Children with Neurodevelopmental Disorders.

AIMS: Evaluate changes in two-wheel cycling skills and biking participation goals for children with neurodevelopmental disorders (ND) receiving a home visit and email following iCan Bike camp. METHODS: Participants: 11 children with ND, 9-16 years, and one of their parents. A cycling skills checklist, two-wheel riding Goal Attainment Scaling (GAS), and biking participation GAS were completed before camp (T1), at support visit after camp (T2), and three months following camp (T3). Parents completed biking practice logs. Participants received a support visit to provide instruction, coaching, and address questions, and an email to check progress. RESULTS: Significant changes were made in two-wheel riding GAS T1 to T2 (p = 0.01), biking participation GAS T2 to T3 (p = 0.02), and cycling skills T1 to T2 (p = 0.01) and T2 to T3 (p = 0.02). Practice frequency was related to cycling skills (0.72, p = 0.01) and biking participation (0.86, p < 0.001); cycling skills were related to biking participation (0.81, p = 0.003). CONCLUSION: Children improved cycling skills and biking participation following camp, support visit, and email check-in. Children who practiced more had greater cycling skills and biking participation. Encouraging weekly bicycling and providing support may promote cycling skills and participation following camp.

Formal support and service needs of family caregivers of adults with intellectual and/or developmental disabilities in India.

BACKGROUND: Despite the enactment of disability laws/policies in India, research shows that caregivers of adults with intellectual and/or developmental disabilities experience inadequate formal supports/services due to dissemination barriers and lack of awareness about them. To address discrepancy between caregivers' support needs and the professionals' understanding of their needs, the study proposed to conduct a caregiver needs assessment so that culturally-tailored programs are developed. METHOD: A strengths-based mixed methods needs assessment was conducted with a convenience sample of 100 caregivers in Hyderabad, India. One hundred caregivers completed the survey and 15 caregivers participated in semi-structured interviews. RESULTS: Caregivers needed more and improved formal supports/services, particularly from the government. Caregivers faced systemic and attitudinal barriers, and personal impediments to accessing them. Needs differed by care recipients' intellectual disability level, gender, and intellectual disability related conditions. CONCLUSIONS: Researchers, service providers and policymakers need to adopt innovative strategies to improve formal supports/services access.

How are medical students learning to care for patients with intellectual disabilities? A scoping review.

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. METHOD: 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.

Visual fixation patterns to AAC displays are significantly correlated with motor selection for individuals with Down syndrome or individuals on the autism spectrum.

Eye tracking research technologies are often used to study how individuals attend visually to different types of AAC displays (e.g. visual scene displays, grid displays). The assumption is that efficiency of visual search may relate to efficiency of motor selection necessary for communication via aided AAC; however, this assumption has not received direct empirical study. We examined the relation between speed of visual search and speed of motor selection of symbols. Ten individuals on the autism spectrum (AS; Study 1) and nine with Down syndrome (DS; Study 2) participated in a search task using simulated AAC displays with a main visual scene display (VSD) and a navigation bar of thumbnail VSDs. Participants were given an auditory prompt to find one of four thumbnail VSDs in the navigation bar. Eye tracking technologies measured how long it took participants to fixate visually on the thumbnail VSD, and recorded how long it took participants to select the thumbnail VSD with a finger. A statistically significant relationship emerged between visual fixation and selection latencies, confirming the positive relationship between visual processing and motor selection for both groups of participants. Eye tracking data may serve as a useful proxy measure for evaluating how display design influences selection of AAC symbols, especially when individuals are unwilling or unable to comply with traditional behaviorally-based assessment tasks.

A systematic review of acquisition and mastery of skills taught using the Picture Exchange Communication System.

The Picture Exchange Communication System (PECS) is a popular augmentative and alternative communication intervention for individuals with developmental disabilities that includes six, sequential phases of instruction. We systematically reviewed published and unpublished single-case PECS studies for details about the percentage of participants mastering PECS phases, how long it took participants to master PECS phases (in trials to mastery), and what constituted mastery of PECS phases. We found most participants mastered only the first two phases of PECS, and Phases I, II, and IV showed the slowest and widest variability in trials to mastery. Moreover, participants who were taught the third PECS phase learned to select from an average array of three symbols, which may limit the range of messages they can communicate. We discuss our findings in light of a few important limitations and provide directions for future researchers along with recommendations for professionals who might consider PECS.

Perceived Impact of the COVID-19 Pandemic on Adults with Intellectual and Developmental Disability: A Qualitative Study.

The current study examined the impact that the COVID-19 pandemic and resulting restrictions have had on individuals with intellectual and developmental disability. Semi-structured focus groups were conducted to collect data from participants who attended day programming by local community agency. Results indicate that the COVID-19 pandemic and its safety restrictions impacted participants' knowledge of the disease, programming and work, relationships, activities, and emotions in ways that were both similar to and different from other findings in other populations. Implications of these findings for research and practice are discussed.