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Background: Acceptance of health care professionals is of paramount importance for the uptake and implementation of eHealth. The Unified Theory of Acceptance and Use of Technology (UTAUT) model is a widely used framework for studying health care professionals' acceptance and actual use of eHealth among general client populations. However, there is limited understanding of the eHealth acceptance of health care professionals working with people with intellectual disabilities (ID)., Objective: This study aimed to explore the applicability of the UTAUT model toward understanding the acceptance, intention to use, and actual use of eHealth among support staff and therapists working with people with ID., Methods: A total of 2 cross-sectional survey studies were conducted among health care professionals from 5 health care organizations for people with ID in the Netherlands in 2018 (n=311) and in 2021 during the COVID-19 pandemic (n=326). In addition to confirmatory and exploratory factor analyses to evaluate both the original UTAUT model and an extended version, descriptive analysis was used to explore participants' characteristics, acceptance levels, and eHealth usage. Moderator analysis and multiple regression analysis were also used., Results: A confirmatory factor analysis indicated a poor fit for both the original 4-factor UTAUT model and the extended version. An exploratory factor analysis was then conducted, resulting in a more satisfactory 5-factor model after removing 1 item with a factor loading <.40. Internal consistency of the 5 factors ranged from acceptable to good (Cronbach α=.76-.85). Collectively, all factors predicted the intention to use eHealth in 2018 (R 2 =0.47; F 5,305 =54.885; P<.001) and in 2021 (R 2 =0.43; F 5,320 =49.32; P<.001). Participants scored moderately on all 5 acceptance factors in both 2018 and 2021. Moderator analysis indicated that age and voluntariness influence the relationship between factors that determined acceptance and intention to use eHealth., Conclusions: The findings from 2 cross-sectional studies conducted in 2018 and 2021, using an extended UTAUT model, gave a deeper understanding of eHealth acceptance among health care professionals who work with people with ID., (©Cathelijn Oudshoorn, Noud Frielink, Heleen Riper, Petri Embregts. Originally published in JMIR Formative Research (https://formative.jmir.org), 12.11.2024.)

People with an intellectual disability face inequality accessing healthcare that extends to end-of-life care. Furthermore, end-of-life care for people with an intellectual disability is more complex than that for the general population. This protocol sets out how our review will explore the available evidence and identify the key characteristics of care that are required for people with an intellectual disability to have a good end-of-life experience. A critical interpretive synthesis approach will be adopted, combining some elements of a systematic review with interpretive synthesis. This approach has been selected as it allows a diverse body of literature to be considered. Furthermore, it is compatible with theory generation allowing new insights to emerge in an iterative process. Electronic databases and grey literature sources will be searched using pre-defined search terms. Following initial title and abstract screening, eligible papers will undergo full text screening. Papers that are deemed to be 'fatally flawed' will be excluded and remaining papers appraised for relevance. Resultant papers will be included in the sampling frame from which data extraction will occur. An existing framework outlining key factors in the provision of excellent end-of-life care to people with an intellectual disability will be used to support data extraction and synthesis. Data extracted will be integrated into a synthesising argument in the form of a theoretical framework. This will identify the key characteristics in the provision of care that are required for people with an intellectual disability to have a good end-of-life experience. The developing theoretical framework will guide further selection of relevant literature to fill any conceptual gaps until saturation is reached. Our review will add to the existing body of evidence, shedding light on the key factors necessary in the provision of care to ensure that people with an intellectual disability have a good end-of-life experience., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Haigh et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Objective: We aimed to determine the demographics and clinical presentation of young persons with epilepsy (YPE) 18-years and older who have not transitioned to adult health care systems (AHCS) and to investigate the number of neurology-related hospital encounters in this population before and after attaining adulthood., Methods: We conducted a single-site retrospective cohort study at Dayton Children's Hospital (DCH) between 12/01/2021 and 5/31/2022. We included epilepsy patients 18-years and older. Patient demographics, insurance, number of hospitalizations and Emergency Department (ED) visits before and after 18 years of age, clinical presentation, and comorbidities were collected., Results: 251 patient charts were reviewed. The median age was 20.9 years. The most common comorbidities were intellectual disability (36 %) and psychiatric illnesses (59 %). The majority had generalized epilepsy (52 %) and tonic-clonic seizures (56 %). 58 % of the patients had infrequent seizures in the past year. Documentation of transition to AHCS discussion occurred in only 3 % of patients before age 18 compared to 35 % of patients after age 18. There was a decrease in 30 % for ED visits and 15 % for neurology related hospitalizations after the age of 18., Conclusion: YPE 18-years of age and older who were managed by a pediatric neurologist at DCH had significant co-morbidities. However, they were clinically stable and rarely required admission to the hospital. Most of them did not have documentation about transition discussions. At DCH, YPE who have not transitioned to AHCS are clinically stable and well managed., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Objectives: Patient-reported experience measures (PREMs) collect essential data for service and system-wide quality improvement and performance monitoring toward value-based care. However, the experiences of people with intellectual disability, who have high healthcare utilization couple with poorer outcomes, are often omitted from system-wide PREMs and service-wide PREMs data. The use of PREMs instruments for data collection among people with intellectual disability has not been explored. This review aimed to identify and synthesize measurement tools and approaches that have been used to gather patient-reported experience data from people with intellectual disability., Methods: Rapid evidence assessment was used, in which comprehensive search strategies were applied to electronic databases and gray literature. Narrative synthesis was used with the included articles to address the review aim., Results: A total of 48 documents were included; 26 peer-reviewed journal articles and 22 articles from gray literature. Patient-reported experiences have been gathered from people with intellectual disabilities in relation to specific services or encounters, predominantly using qualitative methods. To date, there is an absence of targeted service- or system-wide surveys. Existing clinic- and condition-specific instruments provide insight for broader application., Conclusions: Patient experience assessment among people with intellectual disability requires consideration of (1) how individuals are identified and approached, (2) the content, design and structure of measurement instruments, and (3) the process by which data are collected, and (4) how it may be applied to create change. Despite the collection of patient experience data from people with intellectual disability, there is little research available about how this information is later used to support health service improvement. Applying PREMs for quality improvement is critical to realize the improvements to healthcare provision required for people with intellectual disability toward equitable care quality., Competing Interests: Author Disclosures Author disclosure forms can be accessed below in the Supplemental Material section., (Copyright © 2024. Published by Elsevier Inc.)

Defects of the GNAS gene have been mainly associated with pseudohypoparathyroidism Ia. To date, pathogenic missense, frameshift, non-sense and splicing variants have been described in all the 13 exons of the GNAS gene. Of them, a specific mutation, namely the 4 bp deletion c.565&#95;568delGACT, is currently considered a mutation hotspot. Recent articles performed genotype-phenotype correlations in patients with GNAS -related pseudohypoparathyroidism Ia (PHP1a) but a specific focus on this hotspot is still lacking. We reported two cases, from our department, of PHP1a associated with c.565&#95;568delGACT deletion and performed a literature review of all the previously reported cases of the 4 bp deletion hotspot. We found a higher prevalence of brachydactyly, round face, intellectual disability and subcutaneous/heterotopic ossifications in patients with the c.565&#95;568delGACT as compared to the other variants in the GNAS gene. The present study highlights the different prevalence of some clinical features in patients with the c.565&#95;568delGACT variant in the GNAS gene, suggesting the possibility of a personalized diagnostic follow-up and surveillance for these patients.

Introduction: The therapeutic farm "GAIA" in Sidi Thabet is a non-profit organization created in 2009, situated in the North-Western suburbs of the capital Tunis/Tunisia. Its main aims are the day-care for and the socio-professional integration of children and young adults between age 6 and 30 with diverse types of disability through multiple activities, such as pet assisted therapy and horticulture., Aim: to assess the potential benefits of therapeutic on-farm management., Methods: We conducted a prospective study including 50 children and young adults aged 7 to 30 years with intellectual disabilities and/or autism spectrum disorders. Study participants were evaluated before inclusion and after 10 months of care using a self-established questionnaire collecting socio-demographic and clinical variables, an evaluation of competences, and the Child Behavior Checklist (CBCL)., Results: Mean sub scores (externalization/internalization) of CBCL decreased significantly (p<0.002). Competences were significantly improved in the following domains: understanding of verbal language, gross and fine motor skills, body hygiene, spatial and temporal orientation, preschool and school learning achievements and social integration., Conclusions: These positive initial results should encourage the further development of this initiative with support of the community.

Background: Interventions for anxiety need to be adapted to meet the needs of autistic people with moderate to severe learning disabilities and successfully modelled before evidence about efficacy can be generated from clinical trials., Objectives: The objectives were to: (1) adapt a behavioural intervention for anxiety, develop an intervention fidelity checklist and logic model, and appraise candidate outcome measures, together with carers, autistic people, and clinicians, (2) characterise treatment-as-usual, (3) model the adapted intervention to determine the acceptability and feasibility for all stakeholders, judge the appropriateness of outcome measures, examine the feasibility and acceptability of consent and associated processes and (4) describe factors that facilitate or challenge intervention delivery., Design: This study had two phases. Phase 1a: using consensus methods, an intervention adaptation group was formed who met to adapt the intervention, appraise candidate outcome measures, and contribute to the development of the intervention fidelity checklists and logic model. Phase 1b: a national online survey was conducted with professionals to characterise treatment-as-usual. Phase 2: this was a single-group non-randomised feasibility study designed to model the intervention to test intervention feasibility and acceptability, outcome measures, and aspects of the research process., Setting: Participants were recruited from National Health Service community adult learning disabilities teams in England., Participants: Participants aged 16 and over with a diagnosis of autism, moderate to severe learning disabilities, an anxiety disorder, and a carer who was available to take part in the intervention. For those who lacked capacity to make a decision about taking part, a consultee had to provide advice that the participant should be included in the study., Interventions: The intervention comprised 12 sessions alongside treatment-as-usual., Main Outcome Measures: The feasibility and acceptability of the intervention and research processes, outcome measure completion rates, and intervention adherence., Results: The intervention was successfully adapted and modelled with 28 autistic participants with moderate to severe learning disabilities. The intervention was judged to be feasible and acceptable by autistic adults with learning disabilities, carers, and therapists. Carers and therapists suggested minor intervention revisions. Carers completed 100% of outcome measures and the missing data rate was low; however, they indicated that some of the questions were repetitive and said they had difficulty responding to some items. The use of the Mental Capacity Act, 2005, led to an average 5-week delay to participant enrolment. The accrual rate was affected by the COVID-19 pandemic and improved during the summer and early autumn of 2022., Limitations: Randomisation was not modelled within this feasibility study, although carers and therapists indicated that this would be acceptable., Conclusions: The BEAMS-ID intervention and associated study processes were judged to be feasible and acceptable. The intervention required minor revision., Future Work: The BEAMS-ID intervention should be tested further within a trial., Study Registration: This study is registered as ISRCTN12637590., Funding: This award was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme (NIHR award ref: NIHR129804) and is published in full in Health Technology Assessment ; Vol. 28, No. 72. See the NIHR Funding and Awards website for further award information.

Introduction: There is growing recognition that healthcare inequalities faced by people with intellectual disabilities extend to their experiences at the end of life, resulting in calls for more inclusive research to help address these inequities. Our study aimed to address this through the co-design of a toolkit for supporting end-of-life care planning with people with intellectual disabilities. To inform the co-design process, we undertook an evidence review to identify existing tools, resources and approaches that were already being used in practice., Methods: Our evidence review comprised three components: (i) a rapid scoping review of the academic literature, (ii) a desk-based search of the grey literature and (iii) an online survey to capture unpublished resources that were distributed to services, professionals, third-sector organisations and family members. A longlist of existing materials was appraised using an adapted version of the AGREE II instrument, resulting in a shortlist that was shared with the co-design team., Results: The evidence review played a critical role in the co-design of a new toolkit of end-of-life care resources for people with intellectual disabilities. However, AGREE II proved to be limited for our purposes., Conclusions: The survey was particularly useful in helping us identify resources, tools and approaches in current use. We identified evidence review processes that served to support co-design team activities and elements that were more problematic. We argue that evidence review practices might be enhanced to better aid co-design activities in health and care research, particularly for studies involving people with intellectual disabilities., Patient or Public Contribution: This article reflects on an evidence review that was conducted as part of The Victoria and Stuart Project. People with intellectual disabilities were deeply involved at every stage of project design, delivery and dissemination. The project employed people with intellectual disabilities as members of the core research team. People with intellectual disabilities and family carers were members of the project co-design team and the project Advisory Group. The evidence review process itself was led by academic members of the research team with contributions from colleagues with intellectual disabilities via the Advisory Group and core research team. The findings from the evidence review were used by the co-design team to inform the development of an end-of-life care planning toolkit for people with intellectual disabilities., (© 2024 The Author(s). Health Expectations published by John Wiley & Sons Ltd.)

Background: There is a lack of interventions for specific phobia in children and adolescents with moderate to severe intellectual disabilities., Objectives: The objectives were to: (a) develop an intervention for specific phobia, together with an intervention fidelity checklist and logic model, and evaluate candidate outcome measures, together with parents/carers and clinicians; (b) describe treatment as usual; (c) model the intervention to determine the acceptability and feasibility for all stakeholders, judge the appropriateness of outcome measures, explore recruitment pathways, and examine the feasibility and acceptability of consent and associated processes; and (d) describe factors that facilitate or challenge the intervention., Design: Phase 1a: using consensus methods, an Intervention Development Group was established who met to develop the intervention, review candidate outcome measures and contribute to the development of the intervention fidelity checklists and logic model. Phase 1b: a national online survey was conducted with parents and professionals to describe treatment as usual. Phase 2: a single-group non-randomised feasibility study was designed to model the intervention and to test intervention feasibility and acceptability, outcome measures and aspects of the research process., Setting: Phase 2: participants were recruited from National Health Service community child learning disabilities teams and special schools in England. Treatment was delivered in the child learning disabilities teams., Participants: Children aged 5-15 years with moderate to severe learning disability and specific phobia, and their parents/carers., Interventions: The SPIRIT intervention comprised two half-day workshops and eight support sessions plus treatment as usual., Main Outcomes: The feasibility and acceptability of the intervention and research processes, recruitment, outcome measure completion rates and acceptability, and intervention adherence. Parents completed all of the outcome measures, with very low rates of missing data. The recruitment of sites and participants was impacted by the COVID-19 pandemic., Results: The intervention was successfully developed and modelled with 15 participants with moderate to severe learning disabilities and their parents. The intervention was judged to be feasible and acceptable by parents/carers and therapists. Parents/carers and therapists suggested minor intervention revisions., Limitations: Randomisation was not modelled within this feasibility study, although the majority of parents and therapists indicated that this would be acceptable., Conclusions: The SPIRIT intervention and associated study processes were judged to be feasible and acceptable. The intervention requires minor revisions., Future Work: The SPIRIT intervention should be tested further within a clinical trial., Study Registration: Current Controlled Trials ISRCTN34766613., Funding: This award was funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme (NIHR award ref: NIHR130177) and is published in full in Health Technology Assessment ; Vol. 28, No. 64. See the NIHR Funding and Awards website for further award information.

Background and Aims: People with intellectual disabilities are more likely to have epilepsy than the general population. A picture-based book, Getting on with Epilepsy, may help to improve their epilepsy management and quality of life. The present study aimed to explore how the book could be best used in routine clinical care., Methods: Twenty people with epilepsy and intellectual disabilities were video-recorded using the Getting on with Epilepsy book with a nurse or doctor. This was analysed using conversation analytic methods. Eighteen patients and five clinicians took part in interviews to explore their views on book use, which were thematically analysed. All data were then synthesised to form themes., Results: Three themes were identified which demonstrated the importance of (1) understanding the book depicted seizures (2) relating the book to the participants' experiences (3) using the book as an education and information tool. The themes highlighted the techniques and approaches that clinicians used to facilitate understanding. Some tensions and differences were noted between training and implementation in routine practice, particularly around prompts in themes 1 and 3 intended to correct or change participants' interpretation of the book., Conclusions: The Getting on with Epilepsy book can be used in routine clinical practice to support people with intellectual disabilities and epilepsy. There was a balance between exploring patients' narratives and understanding with the need to convey clinical information, and this may also apply to the use of other accessible resources., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

In forensic psychiatric clinics, patients who have committed a criminal offense on the basis of intellectual disability are also treated in according to Sect. 63 of the German Criminal Code. This group of patients has above-average lengths of stay and specific difficulties in treatment and in transition to aftercare systems are reported from practice. The present study is based on a content-analytical evaluation of ten structured interviews with practitioners of different professions who are familiar with the treatment of this patient group in forensic psychiatry. The aim was to identify treatment experiences and challenges of inpatient forensic care for this group as well as needs for change and suggestions for improvement. Respondents confirmed the specific treatment needs and person- and diagnosis-related challenges known from other studies, which were considered to be causally related to prolonged hospital stay and problems at discharge. Numerous structural and systemic barriers were also identified that impede the shortest possible forensic inpatient care and seamless transition to the non-forensic aftercare system. At the structural level, these included the need for human resources (both quantitative and qualitative) and adapted treatment concepts. Professional aftercare was considered very important for this group of patients. In this regard, the non-availability of suitable institutions, long waiting lists and reservations on the part of these institutions towards former forensic patients were identified as problems. The fact that patients with intellectual disability were less able to make their needs known than other patients and thus often received less attention from the treatment providers can be described as a systemic obstacle. This also applies to the rather high demands that the forensic system, with its goal of "improvement" through treatment, also places on people with intellectual disability. The findings of this study can contribute to improvement of the forensic inpatient care of people with intellectual disability at systemic and structural levels., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

Bias in Mental Health Care of Children and Adolescents with Intellectual Disabilities Implicit and explicit bias and distortions of perception are partly responsible for the unequal and significantly deficient psychotherapeutic and psychiatric care situation for children and adolescents with intellectual disabilities and additional behavioral problems. The extent to which these biases influence misdiagnoses and treatment errors, refusals and exclusions from professional care, and grossly hostile rejections of people with disabilities requires empirical evidence (Bartig et al., 2021). The fact that all forms occur - probably to a considerable extent - contradicts the ethical principles of the medical and psychotherapeutic profession. In order to avoid misdiagnosis and treatment as a result of bias, this must be openly addressed. Selfawareness, supervision and second views, the concept of working diagnosis and, above all, the full application of child and adolescent psychiatric standards help to reduce bias.

Objectives: Adults with intellectual disabilities will frequently experience sedentary behavior and excessive weight, which may cause or exacerbate a multitude of medical and behavioral problems. This study examined a program to encourage increased activity and weight loss in an outpatient service for adults with intellectual disabilities., Methods: Behavioral methods were used to treat obesity in 33 male and 21 female adults with intellectual disabilities for a mean of 9 months. They were retrospectively analyzed to determine the effects of treatment on muscle and adiposity using body composition analysis., Results: The 54 participants of the original 122 (44.3%) who did not drop out were divided into three groups: weight loss ≥3 kg/3% (n = 20, 37%), weight loss <3 kg/3% (n = 17, 31.5%), and no weight loss or weight gain (n = 17, 31.5%). Only men and women who lost ≥3 kg/3%, demonstrated significant gain of relative muscle mass. Those who gained weight lost muscle mass., Conclusions: If motivation remains high and follow-up is reasonably long, then a multicomponent obesity treatment program can lead to significant weight loss with preservation of muscle in adults with intellectual disabilities.

Objective: To evaluate how community-based experts respond to families seeking therapeutic and educational support services after pediatric genomic sequencing for rare conditions., Methods: We interviewed 15 experts in the provision of community-based services for children with intellectual differences, developmental differences, or both, as part of a large study examining the utility of exome sequencing., Results: Interviewees highlighted the complexity of the overall referral and assessment system for therapeutic or educational needs, that genetic diagnoses are secondary to behavioral observations in respect to eligibility for the provision of services, and that social capital drives service acquisition. Although emphasizing that genetic results do not currently provide sufficient information for determining service eligibility, interviewees also highlighted their hopes that genetics would be increasingly relevant in the future., Conclusion: Genomic results do not usually provide information that directly impacts service provision. However, a positive genomic test result can strengthen evidence for behavioral diagnoses and the future trajectory of a child's condition and support needs. Interviewees' comments suggest a need to combine emerging genetic knowledge with existing forms of therapeutic and educational needs assessment, and for additional supports for families struggling to navigate social and therapeutic services., Competing Interests: The authors declare that the research was conducted in the absence of commercial or financial relationships that could be construed as a potential conflict of interest. The research reported in this article was supported by grant U01HG009599 from the US National Institutes of Health. Disclosure: The authors declare no conflict of interest., (Copyright © 2024 Written work prepared by employees of the Federal Government as part of their official duties is, under the U.S. Copyright Act, a “work of the United States Government” for which copyright protection under Title 17 of the United States Code is not available. As such, copyright does not extend to the contributions of employees of the Federal Government.)

The neurodevelopmental disorder Pitt Hopkins syndrome (PTHS) causes clinical symptoms similar to Rett syndrome (RTT) patients. However, RTT is caused by MECP2 mutations whereas mutations in the TCF4 gene lead to PTHS. The mechanistic commonalities underling these two disorders are unknown, but their shared symptomology suggest that convergent pathway-level disruption likely exists. We reprogrammed patient skin derived fibroblasts into induced neuronal progenitor cells. Interestingly, we discovered that MeCP2 levels were decreased in PTHS patient iNPCs relative to healthy controls and that both iNPCs and iAstrocytes displayed defects in function and differentiation in a mutation-specific manner. When Tcf4 +/- mice were genetically crossed with mice overexpressing MeCP2, molecular and phenotypic defects were significantly ameliorated, underlining and important role of MeCP2 in PTHS pathology. Importantly, post-natal intracerebroventricular gene replacement therapy with adeno-associated viral vector serotype 9 (AAV9)-expressing MeCP2 (AAV9.P546.MeCP2) significantly improved iNPC and iAstrocyte function and effectively ameliorated histological and behavioral defects in Tcf4 +/- mice. Combined, our data suggest a previously unknown role of MeCP2 in PTHS pathology and common pathways that might be affected in multiple neurodevelopmental disorders. Our work highlights potential novel therapeutic targets for PTHS, including upregulation of MeCP2 expression or its downstream targets or, potentially, MeCP2-based gene therapy., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Kathrin C Meyer, Patricia Cogram, Colleen M. Niswender reports financial support was provided by Pitt Hopkins Research Foundation. Colleen M. Niswender reports was provided by International Rett Syndrome Foundation. Rocco G. Gogliotti, Sheryl Anne D. Vermudez reports financial support was provided by National Institutes of Health. Kathrin Meyer, Cassandra Dennys has patent pending to Nationwide Children's Hospital. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier Inc.)

Background: The aim of this feasibility study was to adapt and model a behavioural intervention for anxiety with autistic adults with moderate to severe intellectual disabilities., Method: Twenty-eight autistic adults with moderate or severe intellectual disabilities, 37 carers, and 40 therapists took part in this single-group non-randomised feasibility study designed to test intervention feasibility and acceptability, outcome measures, and research processes., Results: The intervention was judged as feasible and acceptable by autistic adults with intellectual disabilities, carers, and therapists. Minor intervention revisions were suggested. Carers completed 100% of outcome measures and the missing data rate was low. Complying with legislation governing the inclusion of participants who lack capacity to decide whether they wanted to take part in this study led to an average 5-week enrolment delay., Conclusion: The intervention and associated study processes were judged to be feasible and acceptable and should now be tested within a larger randomised trial., (© 2024 The Author(s). Journal of Applied Research in Intellectual Disabilities published by John Wiley & Sons Ltd.)

In Ireland, the provision of behavior support services has developed following the introduction of Health Information and Quality Authority (2013) standards and the regulation of Positive Behavior Support (PBS) under the Health Act (2007). The purpose of this study was to explore what factors facilitate and act as barriers to implementation of behavioral recommendations in Intellectual Disability organizations from the practitioner's perspective. Twelve interviews were carried out, audio recorded, transcribed and analysed using Braun and Clarke's (2006) Thematic Analysis. One superordinate theme (administrator support), four themes (values, resources, relationships and implementation of consequences) and five sub-themes (staff turnover and burnout, training and knowledge, time and physical contact, relationships between practitioners and staff and staff and service users) were identified, all interconnected in the implementation process. A common thread reflected throughout the themes, was the practitioner's acknowledgment of barriers overpowering facilitation which resulted in a less than optimum implementation of PBS., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Abstract: The SCN2A gene encodes a subunit that forms part of voltage-gated sodium channels in the brain. Gain-of-function mutations are associated with epilepsy as well as numerous movement/motor abnormalities. Loss-of-function mutations may also cause epilepsy in addition to a variety of neurodevelopmental anomalies, including autism and intellectual disability. The occurrence of catatonia has also been described in 1 previous report that involved a 4-year-old boy. We describe a 20-year-old intellectually disabled female patient who developed recurrent catatonic symptoms in her teenage years that remitted with electroconvulsive therapy. This is only the second report of catatonia occurring in relation to an SCN2A mutation and the first involving a female. Moreover, this case is unique given our patient's later age of symptom onset and given that her symptoms responded well to electroconvulsive therapy., Competing Interests: Conflicts of interest: MC has no conflicts of interest directly relevant to this paper. He is a co-investigator for a RCT in generalized anxiety disorder sponsored by Sunovion and Sumitomo, and a study physician for a RCT in major depressive disorder partially funded by Otsuka (part of CAN-BIND). He has not received any money from these companies for this work. TP has no conflicts of interest to disclose., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Objectives: Children and adolescents with intellectual disabilities (ID) have high rates of mental health disorders, particularly anxiety disorders. Cognitive behavior therapy (CBT) has largely remained unexamined as a treatment option for this population. Fearless Me! © is an adapted CBT treatment program specifically designed for children and adolescents with ID., Method: Eleven children, aged between eight and 17, completed 10 therapy sessions. Measures of anxiety were completed pre and posttreatment and at 3 and 12-month follow-ups by both the children and parents., Results: Six children reported significant reductions in anxiety, with all showing significant reductions in parent-reported child anxiety at either posttreatment assessment, 3-month follow-up, or 12-month follow-up. Results varied across the six children as all parents reported heightened anxiety, but not all children reported high levels of anxiety for themselves., Conclusion: Overall, this evaluation provides a sound basis for continued investigation and research into the use of the Fearless Me! © modified CBT program to treat children with ID and anxiety., (© 2024 The Author(s). Journal of Clinical Psychology published by Wiley Periodicals LLC.)

Background: Individuals with intellectual disabilities are at increased risk of mental health disorders, but may struggle to access appropriate services. While assessment/treatment may need to be adapted, knowledge is limited about what such adaptations may entail., Method: During a service development project, the participants (33 professionals, 13 family members) were asked to identify the characteristics/associated factors of individuals with intellectual disabilities and co-occurring mental health disorders. Using thematic analysis, 1103 participant responses were analyzed to identify the needs for adaptation in assessment/treatment., Results: Three core themes were identified: (1) A broader assessment: Gaining an accurate and comprehensive understanding of the individual's history, abilities and difficulties, (2) Adjusting/modifying existing treatment strategies, (3) Ensuring that the individual's day-to-day needs are met., Conclusions: According to the participants, assessment/treatment of mental health disorder in this population requires more time and broader assessments are necessary. Family/caregiver involvement and cross-service organisation/collaboration represent other important adaptations., (© 2024 The Author(s). Journal of Applied Research in Intellectual Disabilities published by John Wiley & Sons Ltd.)

Background: People with mild intellectual disabilities (MID) experience more mental health (MH) problems than the general population but often do not receive appropriate primary MH care. Primary MH care is essential in integrative MH care and, therefore, demands high quality. To improve primary MH care for this patient group, account must be taken of the experiences of people with MID. So far, their perspectives have been largely absent from primary MH care research., Objectives: To explore patients' experiences, needs, and suggestions for improvement regarding primary MH care for people with MID., Methods: Qualitative study among adults with MID who visited their GP with MH problems in the previous 12 months. Semi-structured interviews were conducted using a guide based on Person-Centred Primary Care Measures. Transcripts were analysed thematically., Results: The 11 interviews that we conducted revealed four themes. The first theme, cumulative vulnerability, describes the vulnerability - instigated by the MID and reinforced by MH problems - experienced on a GP visit. The other themes (needs regarding the GP, needs regarding the network, self-determination) arise from this vulnerability., Conclusion: People with both MID and MH problems are extra vulnerable in primary care but desire self-determination regarding their MH care trajectory. This requires investment in a good GP-patient relationship and the organisation of additional support to meet these patients' needs, for which collaborative care with the patient, the patient's network, and other (care) professionals is of utmost importance.

Intellectual disability (ID) is a prevalent neurodevelopmental disorder characterized by neurodevelopmental defects such as the congenital impairment of intellectual function and restricted adaptive behavior. However, genetic studies have been significantly hindered by the extreme clinical and genetic heterogeneity of the subjects under investigation. With the development of gene sequencing technologies, more genetic variations have been discovered, assisting efforts in ID identification and treatment. In this review, the physiological basis of gene variations in ID is systematically explained, the diagnosis and therapy of ID is comprehensively described, and the potential of genetic therapies and exercise therapy in the rehabilitation of individuals with intellectual disabilities are highlighted, offering new perspectives for treatment approaches., Competing Interests: There are no actual or potential conflicts of interest for any of the authors.

This paper explores the significance of physical activity for individuals with intellectual disabilities and proposes an innovative approach using augmented reality exergames to promote adherence. An augmented reality-based app for sorting elements while walking was specifically designed and implemented. Exergames hold promise as effective interventions for promoting physical activity and improving the overall well-being of individuals with intellectual disabilities.

Background: Regular blood tests for monitoring metabolic side effects are often unable to be collected for people with an intellectual/developmental disability (ID/DD) and challenging behaviours (CBs) using usual pathways. We aimed to develop a model of care to facilitate venipuncture for children and young adults with ID/DD and CBs., Methods: A systematic tiered model of care was developed for venipuncture to suit the individual needs of children and young adults with ID/DD and CBs. A partnership was formed by the disability health team with a community pathology service provider. An observational retrospective study of the baseline demographic data, severity of disability and diagnosis, oral sedation requirement, and outcome data on the success/failure of venipuncture was done., Results: 14 children (mean (SD), 12.8 (3.1) years) had 17 attempted venipuncture with 'reasonable adjustments' such as preparation with social stories, distraction, low sensory strategies and oral sedation at school clinics. 14 (82%) attempts were successful. After the success of the pilot programme at school, venipuncture was replicated in settings such as home, day programmes, pathology centres and a respite facility. 16 people with ID/DD and CBs (mean (SD)17.3 (3.7) years), had 14 successful venipuncture performed out of 18 attempts (success rate, 77.7%). Overall, 11 attempts (31.4%) succeeded without requiring oral sedation using only reasonable adjustments. 16 attempts (45.7%) succeeded with conscious oral sedation along with reasonable adjustments. Of those 16, 10 required olanzapine (5 mg), 1 required olanzapine (10 mg), 1 required combination of risperidone (1 mg) and diazepam (5 mg), 1 required clonazepam (2.5 mg) and olanzapine (5 mg), 1 required combination of olanzapine (10 mg) and diazepam (10 mg), 1 required combination of olanzapine (10 mg) and diazepam (5 mg) while 1 required only diazepam (5 mg). One had to be switched to the tier-3 pathway., Conclusion: A model of care was developed to ensure compassionate and non-stressful venipuncture for children and young adults with disabilities. We demonstrated that a significant proportion of carefully selected children and young adults with ID/DD and CBs, considered 'challenging for blood collection' can have venipuncture performed successfully in non-hospital settings using 'reasonable adjustments' and oral sedation., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

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.

Purpose: Intellectual disability is one of the neurodevelopmental disorders. Studies indicated that depression and anxiety are the most prevalent emotional problems among the people with intellectual disability. The aim of this study was to investigate the utility of behavioral activation therapy in addressing emotional problems of two depressed students with borderline intellectual disability., Method: This study is a single-subject design with multiple baseline and one month follow-up. Two students with borderline intelligence underwent behavioral activation therapy for 12 sessions. Beck Depression Inventory-Second Edition, Beck Anxiety Inventory, Oxford Happiness Inventory and Rosenberg Self-Esteem Scale were used. Data were analyzed using visual inspection of graphed data, changes in trends, improvement percentage and effect size., Findings: The findings of this study support the utility of behavioral activation therapy in addressing the emotional problems of two depressed students with borderline intellectual disability., Conclusion: Behavioral activation therapy has had favorable outcomes in reducing depression and anxiety in depressed students with borderline intellectual disabilities., (© 2024 The Author(s). Brain and Behavior published by Wiley Periodicals LLC.)

Youth and young adults (YYA) with intellectual and developmental disabilities (IDD) have high rates of co-occurring mental health (MH) conditions. The time during transition from pediatric to adult health and mental health care can be a very challenging, with risk of loss of services leading to poor outcomes. This study aimed to explore barriers to transition from pediatric to adult health and mental health care and services for individuals with IDD and co-occurring MH conditions, by eliciting the view of stakeholders, including disability advocates. Qualitative analysis was conducted using grounded theory, and themes were coded based upon the social-ecological model (SEM). We generated themes into multiple levels: the individual level, the family level, the provider level, the systems of care level, and the societal level. Stakeholders expressed a critical need to improve coordination between systems, and to increase provider availability to care for YYA with IDD and co-occurring MH conditions., (© 2024. The Author(s).)

Objective: The authors aimed to identify barriers to and strategies for supporting coordination between state agencies for intellectual and developmental disability (IDD) or mental health to meet the mental health needs of people with co-occurring IDD and mental health conditions., Methods: Forty-nine employees of state agencies as well as advocacy and service delivery organizations across 11 U.S. states with separate IDD and mental health agencies were interviewed between April 2022 and April 2023. Data were analyzed with a thematic analysis approach., Results: Interviewees reported that relationships between the IDD and mental health agencies have elements of both competition and coordination and that coordination primarily takes place in response to crisis events. Barriers to interagency coordination included a narrow focus on the populations targeted by each agency, within-state variation in agency structures, and a lack of knowledge about co-occurring IDD and mental health conditions. Interviewees also described both administrative (e.g., memorandums of understanding) and agency culture (e.g., focusing on whole-person care) strategies that are or could be used to improve coordination to provide mental health services for people with both IDD and a mental health condition., Conclusions: Strategies that support state agencies in moving away from crisis response toward a focus on whole-person care should be prioritized to support coordination of mental health services for individuals with co-occurring IDD and mental health conditions., Competing Interests: The authors report no financial relationships with commercial interests.

Objective: To explore the preparedness and training needs of a regional public mental health workforce to support people with intellectual disability and mental ill health., Setting and Participants: Staff from a regional public mental health service in Victoria, Australia., Design: A mixed-methods design comprised a survey, interviews and a focus group to collect data about staff attitudes, confidence, education and professional development regarding supporting people with intellectual disability and mental ill health. Descriptive and thematic analyses were used., Results: Data from 31 survey respondents, seven interviews and one focus group were analysed. Survey descriptive analyses showed participants believed treating people with intellectual disability was part of their role but reported areas of low confidence along with insufficient education and training in intellectual disability mental health. Thematic analyses from interviews showed that underpinning confidence, education and training were the themes (1) need for flexibility, such as having more time and (2) solutions but with challenges, such as limited opportunity to upskill and availability of experts. A need for collaborative problem-solving where staff share skills and information to work towards person-centred solutions was a key theme from the focus group analysis., Conclusion: Professional development in intellectual disability mental health is required for the regional public mental health workforce but needs to account for the challenges experienced and reflect how teams function. Exploration of described preparedness offered a possible learning approach informed by workforce members. Collaborative learning approaches to supporting people with intellectual disability and mental ill health are suggested., (© 2024 The Authors. Australian Journal of Rural Health published by John Wiley & Sons Australia, Ltd on behalf of National Rural Health Alliance Ltd.)

Introduction: Support staff within social care settings have expressed a need for resources to facilitate end-of-life care planning with people with intellectual disabilities. This study aimed to co-design a preliminary toolkit of end-of-life care planning approaches and resources that can be implemented in adult social care services for people with intellectual disabilities., Methods: An adapted Experience-Based Co-Design process was applied to develop a toolkit for end-of-life care planning with people with intellectual disabilities. A co-design group (the 'All Together Group') met six times from January to October 2023. The group comprised nine people with intellectual disabilities (including four researchers with intellectual disabilities, who also co-facilitated the workshops), five family members, five intellectual disability support staff, two intellectual disability service managers, and five healthcare professionals., Results: The All Together Group tested resources for and approaches to end-of-life care planning with people with intellectual disabilities, based on findings from a scoping review and a focus group study. Easy-read end-of-life care planning forms were deemed overwhelming and complicated, whilst visual and creative approaches were welcomed. Three new visual resources to support illness planning and funeral planning with people with intellectual disabilities were developed: (i) 'When I'm ill' thinking cards; (ii) 'Let's Talk About Funerals' conversation-starter pictures; and (iii) 'My funeral' planning cards. These three resources, alongside three positively evaluated existing resources, were included in a new toolkit for end-of-life care planning with people with intellectual disabilities., Conclusion: Through an iterative, flexible, inclusive, and comprehensive co-design process, a toolkit of three newly developed and three existing resources was created to facilitate support staff in doing end-of-life care planning with people with intellectual disabilities. Following a trialling process with support staff, the final toolkit was made freely available online., Patient or Public Contribution: The research team included four researchers with intellectual disabilities (A.C., D.J., L.J., and R.K.-B). Researchers with intellectual disability have been part of every step of the research process; from study design to data collection and analysis to dissemination of study findings.Intellectual disability service provider representatives (M.W., N.P., and S.S.) were part of the co-design group as well. Two of these representatives were also co-applicants in the overall project (N.P. and S.S.). The co-design group included people with intellectual disabilities, families, intellectual disability support staff and health and social care professionals. The study was supported by a Research Advisory Group comprising a variety of stakeholders, including people with intellectual disabilities families, intellectual disability researchers, representatives from intellectual disability organisations, and policymakers., (© 2024 The Author(s). Health Expectations published by John Wiley & Sons Ltd.)

Some patients with autism and severe intellectual disability may experience uncontrolled aggression, causing serious injury or harm to others, and the therapeutic ineffectiveness of traditional pharmacological and behavioral treatment may aggravate symptoms. Deep brain stimulation (DBS) has been tested in patients with little evidence in children and adolescents. Therefore, we analyzed the efficacy and safety of DBS in refractory aggression in pediatric subjects with autism (ASD) and severe intelligence deficit (ID).Methods A meta-analytic review of Web of Science (WOS) and Scopus articles, following Prisma criteria. A total of 555 articles were identified, but after applying the inclusion criteria, only 18 were analyzed. The review of the registries and the extraction of information was performed by 2 independent groups, to reduce the evaluator's bias. For the description of the results, pediatric patients with ASD or ID present in each registry, with an application of specialized scales (Overt aggression scale, OAS, and THE modified version of the OAS, MOAS) pre and post-DBS, with a clinical follow-up of at least 12 months, were considered valid. Clinical improvement was calculated using tests of aggressiveness. In each registry with available data and then pooling the means of all patients in the OAS and MOAS, the effect size of DBS (overall and per study) was estimated. Finally, the adapted NOS scale was applied to rate the studies' quality and level of bias.Results In the studies analyzed, 65/100 were pediatric patients, with a mean age of 16.8 years. Most of the studies were conducted in South America and Europe. In all teams, aggressive behavior was intractable, but only 9 groups (53/65) applied specialized scales to measure aggressiveness, and of these, only 51 subjects had a follow-up of at least 12 months. Thus, in 48/51 a clinical improvement of patients was estimated (94.2%), with a considerable overall effect size (OAS: d = 4.32; MOAS: d = 1.46). However, adverse effects and complications were found in 13/65 subjects undergoing DBS. The brain target with the most evidence and the fewest side effects was the posteromedial hypothalamic nuclei (pHypN). Finally, applying the adapted NOS scale, quality, and bias, only 9 studies show the best indicators.Conclusion An optimal level of efficacy was found in only half of the publications. This is mainly due to design errors and irrelevant information in the reports. We believe that DBS in intractable aggressiveness in children and adolescents with ASD and severe ID can be safe and effective if working groups apply rigorous criteria for patient selection, interdisciplinary assessments, objective scales for aggressiveness, and known surgical targets., (© 2024. The Author(s).)

Background: Intellectual disability is a neurodevelopmental disorder characterized by significant impairments in intellectual functioning and adaptive behavior. Cognitive flexibility and attention are crucial cognitive domains often affected in children with intellectual disability. This case report explores the novel use of transcranial alternating current stimulation, a noninvasive brain stimulation technique, to enhance these cognitive functions. The study's novelty lies in its focus on alpha-wave frequency transcranial alternating current stimulation targeting specific Brodmann areas and its potential sustained impact on cognitive flexibility and attention in the pediatric population with intellectual disability., Case Presentation: The case study involved two elementary school students, both 7 years old with mild intellectual disability, one male and one female, both with Turkic ethnicity, from Shahid Fahmideh School for Exceptional Children in Khosrowshah, Iran. Both participants underwent a 2-week intervention with daily 20-minute sessions of transcranial alternating current stimulation at an alpha-wave frequency (10 Hz), targeting Brodmann areas F3 and P3. Cognitive flexibility and attention were assessed using the Wisconsin Card Sorting Test and the Clock Test, administered at four time points: pre-intervention, week 1, week 2, and 1 month post-intervention. Statistical analysis showed significant improvements in both Wisconsin Card Sorting Test and Clock Test scores for both participants compared with baseline, with sustained enhancement over time., Conclusion: The findings from this case report indicate that transcranial alternating current stimulation may be a promising intervention for improving cognitive flexibility and attention in children with intellectual disability. The significant and sustained improvements observed suggest that transcranial alternating current stimulation could have a meaningful clinical impact on the cognitive development of this population. However, further research is needed to confirm the efficacy of transcranial alternating current stimulation and to explore its broader applicability and long-term effects in larger, more diverse populations., (© 2024. The Author(s).)

Background: Synaptic Ras GTPase activating protein 1 (SYNGAP1)-related non-specific intellectual disability is a neurodevelopmental disorder caused by an insufficient level of SynGAP1 resulting in a dysfunction of neuronal synapses and presenting with a wide array of clinical phenotypes. Hematopoietic stem cell gene therapy has the potential to deliver therapeutic levels of functional SynGAP1 to affected neurons upon transduction of hematopoietic stem and progenitor cells with a lentiviral vector., Methods: As a novel approach toward the treatment of SYNGAP1, we have generated a lentiviral vector expressing a modified form of SynGAP1 for transduction of human CD34+ hematopoietic stem and progenitor cells. The gene-modified cells were then transplanted into adult immunodeficient SYNGAP1+/- heterozygous mice and evaluated for improvement of SYNGAP1-related clinical phenotypes. Expression of SynGAP1 was also evaluated in the brain tissue of transplanted mice., Results: In our proof-of-concept study, we have demonstrated significant improvement of SYNGAP1-related phenotypes including an improvement in motor abilities observed in mice transplanted with the vector transduced cells because they displayed decreased hyperactivity in an open field assay and an increased latency to fall in a rotarod assay. An increased level of SynGAP1 was also detected in the brains of these mice., Conclusions: These early-stage results highlight the potential of this stem cell gene therapy approach as a treatment strategy for SYNGAP1., (© 2024 The Author(s). The Journal of Gene Medicine published by John Wiley & Sons Ltd.)

Background: Children with intellectual disabilities are at heightened risk for traumatization, though underserved due to silos of care, diagnostic overshadowing, and lack of adapted treatment. Trauma-Focused Cognitive Behavioural Therapy (TF-CBT), an evidence-based childhood trauma therapy, is described with recommended adaptations for use with children who have intellectual disabilities., Method: We present a suggested theoretical and clinical guide for treating children with mild to moderate intellectual disabilities. We explicate key functional domains of intellectual disabilities-comprehension, executive functions, and generalization-as the basis for tailoring the treatment model., Results: Therapy recommendations are organized into a heuristic 'matrix' of resources and adaptations to TF-CBT components, based on clinical experience and research literature, illustrated with composite case vignettes., Conclusion: Children with intellectual disabilities are a uniquely vulnerable population historically excluded from clinical trauma interventions and research but can respond to adapted care. Considerations for future research and dissemination are discussed., (© 2024 John Wiley & Sons Ltd.)

The application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual disability and improved our understanding of the neuronal processes that result in cognitive impairment. Meanwhile, families are building rare disease communities and seeking disease-specific treatments to change the trajectory of health and developmental outcomes for their children. To date, treatments for intellectual disability have focussed on metabolic disorders, where early treatment has improved cognition and neurodevelopmental outcomes. In this article, we discuss the treatment strategies that may be possible to change the neurodevelopmental outcome in a broader range of genetic forms of intellectual disability. These strategies include substrate modification, enzyme replacement therapy, gene therapy and molecular therapies. We argue that intellectual disability should now be considered a potentially treatable condition and a strong candidate for precision medicine., (© 2024 The Author(s). Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

Objective: Transition into adulthood and adult medical care is an important step in the life of young people with epilepsy. We aimed to gain a better insight into the lived experience of the transition to adulthood and adult medical care in epilepsy in Sweden, to improve future transitional care., Methods: A cross-sectional observational study with digital focus-group meetings and interviews with young people with epilepsy (16-22 years, n = 37) prior to, or after the transfer to adult care, or their primary caregivers if they had intellectual disability. We used reflexive thematic analysis to analyse the experiences and expectations on the transition to adulthood and adult medical care., Results: The results of the thematic analysis included four key areas during transition to adulthood and adult care for young persons with epilepsy: (I) worries on coming changes and future, (II) transfers are not smooth and adult care is less integrated, (III) epilepsy is part of a bigger picture, and (IV) parental roles change. In those with intellectual disability, parents experienced a stressful process and had to increase their efforts to coordinate all care contacts in adult care. Here, epilepsy was often experienced as a minor part of a more complex disease picture, where neurodevelopmental issues were often the primary concern., Significance: Transition in epilepsy is often complex due to the large burden of co-occurring disease, specifically intellectual disability and neuropsychiatric diagnoses. Transfer to adult care is experienced as unplanned and participants experience uncertainty, indicating a need for an improved transition process. As effective interventions are known in other chronic diseases, future studies should focus on the evaluation of how these approaches can be feasible and effective in young people with epilepsy., Competing Interests: Declaration of competing interest None of the authors has any conflict of interest to disclose., (Copyright © 2024. Published by Elsevier Ltd.)

Background: Adult day services (ADS) are therapeutic, social, and health-related activities that keep people in their homes, rather than institutional settings. While there is a growing body of literature on ADS for older adults, there is far less information available about ADS for younger adults with intellectual and/or developmental disabilities (IDDs)., Method: Researchers conducted a scoping review of 6 databases (892 total articles)., Results: After applying inclusion and exclusion criteria, 74 full articles were reviewed, with 10 articles meeting study requirements. The research team found the literature is limited to simple descriptive reports or interventions that use ADS as a platform., Conclusions: Simply put, we know very little about the services provided to younger adults with IDD in ADS. Implications for future research are discussed, including the need to catalog the services offered in ADS for younger adults with IDD and to evaluate their impact on participant well-being., Competing Interests: The authors declare no conflicts of interests., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Background: To reduce the impact of chronic diseases (cardiovascular disease, diabetes mellitus type 2, and chronic lung disease (asthma or chronic obstructive pulmonary disease (COPD)), it is imperative that care is of high quality and suitable to patients' needs. Patients with intellectual disabilities (ID) differ from the average patient population in general practice because of their limitations in adaptive behaviour and intellectual functioning, and concomitant difficulties recognising and reacting to disease symptoms, proactively searching health information, and independently managing diseases effectively. Because of these differences, information on their care needs is essential for suitable chronic disease management (CDM). Inadequate recognition of the care needs of this vulnerable population may hamper the harmonisation of evidence-based and person-centred care, compounded by issues such as stigma, misconceptions, and diagnostic overshadowing. This study therefore aimed to explore the needs of patients with ID from perspectives of both patients and of healthcare providers (HCPs) in the context of CDM in general practice., Methods: This qualitative study recruited patients with ID for face-to-face individual interviews and HCPs for focus groups. With the Chronic Care Model as the underlying framework, semi-structured interviews and focus-group guides were defined to explore patients' care needs and HCPs' perspectives. All interviews and focus groups were audio-recorded and transcribed verbatim. Using Atlas.ti software, data were analysed using reflexive thematic analysis., Results: Between June and September 2022, 14 patients with ID and cardiovascular disease, diabetes mellitus type 2, and/or asthma/COPD were interviewed; and 32 general practitioners and practice nurses participated in seven focus groups. We identified six care needs underpinning suitable CDM: trusting relationship between patient and HCP; clear expectations about the CDM process; support in disease management; directive decision-making; support in healthy lifestyle; accessible medical information., Conclusions: This vulnerable patient population has complex care needs that must be acknowledged for suitable CDM. Although HCPs largely recognise these needs, organisational factors and lack of training or experience with patients with ID hamper HCPs' ability to fully adjust care provision to these needs. Access to, and knowledge of, easy-language information on chronic diseases and communication guidelines could aid HCPs to facilitate patients in managing their diseases more adequately., (© 2024. The Author(s).)

In the United States, individuals with intellectual and developmental disabilities (IDD) consistently experience health disparities. One factor is limited access to quality healthcare services equipped to meet the needs of those with IDD, particularly as they transition to adulthood. The purpose of this work is to describe the development and implementation of Jefferson's Continuing Care Program (JCCP), which was designed to address this care gap. We share how the idea, logistics, and support for the clinic were developed; how JCCP was designed to be uniquely accessible both via physical space and clinic flow; and how those challenges encountered have been crucial for fine-tuning optimal patient care. Since its inception in 2019, JCCP has made large strides towards educating the next generation of medical providers to care for patients with IDD. Looking to the future, JCCP plans to broaden its impact by serving more patients, continuing our advocacy and education work, and continuing to adapt to the needs of our community., (© The Author(s) 2023. Published by Oxford University Press. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

With advances in medical care, more youth with intellectual and/or developmental disabilities (IDD) are transitioning into adulthood. Patient- and family-centered, integrated care is warranted around this time of transition. Support teams (including the youth, caregivers, teachers, and pediatricians) should engage in transition planning, ideally starting between 12 and 14 years of age, to identify and develop resources to support the maturing youth's capacity for independent decision-making. Care teams should consider the varied levels of alternative decision-making support, which may include supported decision-making, medical proxy decision-making, power of attorney, and/or establishment of legal guardianship arrangements, to support the youth's health and well-being optimally. Ultimately, if independent decision-making is not appropriate, the goal for youth with IDD should be the least restrictive alternative, while preserving human rights and human dignity and promoting their autonomy. These considerations review alternative decision-making support, concepts, and legal requirements available for youth with IDD and their care teams. Pediatricians can support youth with IDD and their families in the transition process and decision-making autonomy by actively engaging the youth in care decisions, supporting needs for augmentative communication, fostering their expression of preferences and understanding of care decisions, and linking them to resources such as the medical-legal partnership model., (Copyright © 2024 by the American Academy of Pediatrics.)

Background: Intellectual disability services have and continue to experience changes in service provision. This has an implication for leadership in practice as the quality of leadership has a direct influence on staff practice and care provided., Aim: To design, deliver, and evaluate a leadership programme for nurse and social care managers in Ireland., Design: An accredited programme was designed based on evidence from literature, practice, and national expertise. A cross-sectional survey was used to collect information on the attitudes and behaviour of participants before commencing and after completing the programme. Data from the questionnaires were analysed using SPSS and open-ended questions were analysed using content analysis., Setting: Intellectual disability services., Participants: 102 participants completed the programme and survey., Methods: Pre-post survey and reported using the CROSS guidelines., Results: Participants' expectations were rated highly, and all items scored higher in the post-survey. Qualitative data was overall positive regarding opportunities for more time to work through each aspect of the programme. The key learning was through the forum day where participants shared their group projects., Conclusions: Overall, the programme was positively evaluated and through engaging with the programme participants' perceptions moved from seeing leadership as mostly task-oriented to realising that qualities such as good communication, person-centredness, advocacy, supporting, role modelling, and empowering are key to leadership., (© 2024. The Author(s).)

Background: While the literature has highlighted the immense challenges in caring for family members, it is still unclear what the needs of family carers of persons with intellectual disability and challenging behaviours are and what has worked for them. This study aims to examine 60 parents' and siblings' experiences in managing the challenging behaviours of their adult family member with intellectual disability whilst living at home., Methods: A qualitative grounded theory approach using semi-structured interviews will be adopted. Purposive sampling will be used to recruit family carers who live with adult persons with intellectual disability and use one community service in Hong Kong. Three special schools for persons with intellectual disability from northern China will be approached., Results: This study will aim to provide an in-depth understanding of the experiences of family carers and compare the different circumstances they face when managing the challenging behaviours of their adult relatives with intellectual disability in their family home., Conclusions: Although this study targets adults with intellectual disability, the findings will provide a point of reference for adolescents and younger persons who exhibit demanding and challenging behaviours and live with their families. Recommendations can guide the development of appropriate strategies to strengthen services for family carers.

Background: People with intellectual disabilities may experience frailty earlier than the general population. This scoping review aimed to investigate how frailty is defined, assessed, and managed in adults with an intellectual disability; factors associated with frailty; and the potential impact of COVID-19 on frailty identification and management., Method: Databases were searched from January 2016 to July 2023 for studies that investigated frailty in individuals with intellectual disabilities., Results: Twenty studies met the inclusion criteria. Frailty prevalence varied between 9% and 84%. Greater severity of intellectual disability, presence of Down syndrome, older age, polypharmacy, and group home living were associated with frailty. Multiagency working, trusted relationships and provision of evidence-based information may all be beneficial in frailty management., Conclusion: Frailty is common for people with intellectual disabilities and is best identified with measures specifically designed for this population. Future research should evaluate interventions to manage frailty and improve lives., (© 2024 The Authors. Journal of Applied Research in Intellectual Disabilities published by John Wiley & Sons Ltd.)

Individuals with intellectual and developmental disabilities (IDD) continue to experience disparities in health and well-being despite improved provisions of person-centered care. Patient-centered outcomes research (PCOR) translates evidence into practice for meaningful outcomes. This piece describes findings from an environmental scan and stakeholder outreach to identify and prioritize opportunities to enhance IDD PCOR data infrastructure. These opportunities include developing a standardized research definition; advancing data standards for service systems; improving capture of IDD at point of care; developing standardized outcome measures; and encouraging Medicaid data use for IDD research. Within this piece, we discuss the implications of addressing data gaps for enhanced research. While the identified activities provide a path towards advancing IDD PCOR data infrastructure, collaborative efforts between government, researchers, and others are paramount., (©AAIDD.)

Background: The aim of this study was to investigate the experiences, barriers, and solutions in communication during the provision of care for people with intellectual developmental disabilities in Germany. As there are approximately 350,000 people living with intellectual or developmental disabilities in Germany, who rely on assistance when communicating with healthcare providers, this study was conducted to examine the communication challenges and potential solutions in this population. The analysis especially focused on the potentials of digital applications facilitating information transfer., Methods: Thirteen expert interviews were conducted using a structured interview guide with caregivers and medical providers to people with intellectual developmental disabilities. The interviews were analyzed using an inductive and deductive content analysis approach, according to Meuser and Nagel., Results: The results revealed that the provision of care for people with intellectual developmental disabilities was characterized by time constraints and uncertainty when caregivers lack experience in caring for this population. Additionally, information transfer increased in complexity due to an overload of individual information provided by caregivers verbally or paper-based as well due to the passive role of patients who were usually not actively involved in the communication process. With regard to the potential for integrating digital applications for information transfer, a controversy between opportunity and risk emerged., Conclusion: The findings demonstrate that there is a need to implement training programs for professionals to enable them to offer improved health care for people with intellectual developmental disabilities. It is essential that caregivers are given sufficient time to communicate with patients, and that digital applications are utilized to support information transfer. Moreover, other research shows that digital applications offer new possibilities to communicate with people with intellectual developmental disabilities, such as the use of simplified or pictorial language. By addressing these communication challenges, healthcare professionals may be able to provide more effective and efficient care to this population. However, this requires further research, which addresses the controversial results regarding digital applications outlined in this paper., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

Fully elucidating the burden that Lennox-Gastaut syndrome (LGS) places on individuals with the disease and their caregivers is critical to improving outcomes and quality of life (QoL). This systematic literature review evaluated the global burden of illness of LGS, including clinical symptom burden, care requirements, QoL, comorbidities, caregiver burden, economic burden, and treatment burden (PROSPERO ID: CRD42022317413). MEDLINE, Embase, and the Cochrane Library were searched for articles that met predetermined criteria. After screening 1442 deduplicated articles and supplementary manual searches, 113 articles were included for review. A high clinical symptom burden of LGS was identified, with high seizure frequency and nonseizure symptoms (including developmental delay and intellectual disability) leading to low QoL and substantial care requirements for individuals with LGS, with the latter including daily function assistance for mobility, eating, and toileting. Multiple comorbidities were identified, with intellectual disorders having the highest prevalence. Although based on few studies, a high caregiver burden was also identified, which was associated with physical problems (including fatigue and sleep disturbances), social isolation, poor mental health, and financial difficulties. Most economic analyses focused on the high direct costs of LGS, which arose predominantly from medically treated seizure events, inpatient costs, and medication requirements. Pharmacoresistance was common, and many individuals required polytherapy and treatment changes over time. Few studies focused on the humanistic burden. Quality concerns were noted for sample representativeness, disease and outcome measures, and reporting clarity. In summary, a high burden of LGS on individuals, caregivers, and health care systems was identified, which may be alleviated by reducing the clinical symptom burden. These findings highlight the need for a greater understanding of and better definitions for the broad spectrum of LGS symptoms and development of treatments to alleviate nonseizure symptoms., (© 2024 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Background: Globally, families experience challenges caring for and raising children with intellectual disability (ID). Family caregivers in rural states are mostly known for lacking support resources, including information on understanding the care of ID. Lack of adequate information on understanding of ID compromises the provision of life-long care and support of the children with ID's physical, emotional, psychological and social developmental well-being. The study aimed to explore the information needs of family caregivers regarding the care of children with ID in rural areas of Limpopo Province, South Africa., Methods: This qualitative explorative research conducted 16 in-depth individual interviews and one focus group discussion with ten family members. The participants shared their experiences of raising children with ID in rural communities. Inductive thematic analysis using Atlas Ti software categorised emerging themes and subthemes of this study from merged data sets on information needs regarding the care of children with ID among family caregivers., Results: The findings highlighted the need for information regarding ID care among family caregivers raising children with ID in the home environment. The information challenges experienced by family caregivers include caring for the challenging behaviour of children with ID and available support resources and services for the children and their families. These challenges impact the care and support required to meet the developmental needs of children with ID. Furthermore, inadequate information on ID among family caregivers in rural communities with a lack of resources restricts the children from accessing required support services., Conclusions: Given the information challenges these families face on ID, the stakeholders must develop continuous training programmes that will equip, empower, and further monitor ID care and management among family caregivers to enhance care and the raising of children with dignity., (© 2024. The Author(s).)

This study explored the effectiveness of digital story interventions in improving early math skills in kindergarten children with mild intellectual disabilities. Digital stories are multimedia narratives that combine text, images, and audio to enhance learning experience. This experimental study used a pretest-posttest control group design. The intervention group consisted of 15 children who participated in an 8-week digital story intervention targeting early math skills. A matched control group was used to control for sex differences. Data were collected through the TEMA-3 test scores and teacher and child feedback. Post-intervention, the experimental group showed significant improvements in TEMA-3 test scores compared to the control group. Teachers and children reported a positive perception of the intervention's social validity, highlighting enhanced engagement and understanding of math concepts. This study demonstrated that digital story-based education is a promising approach for improving early math skills in children with mild intellectual disabilities. These findings suggest potential implications for integrating digital storytelling into special education curricula and highlight avenues for future research in this field., Competing Interests: The author has declared that no competing interests exist., (Copyright: © 2024 Özlem Altindağ Kumaş. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)