Definition, assessment and management of frailty for people with intellectual disabilities: A scoping review.

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.

Supporting active engagement of adults with intellectual disabilities in lifestyle modification interventions: a realist evidence synthesis of what works, for whom, in what context and why.

BACKGROUND: Lifestyle modification interventions for adults with intellectual disabilities have had, to date, mixed effectiveness. This study aimed to understand how lifestyle modification interventions for adults with intellectual disabilities work, for whom they work and in what circumstances. METHODS: A realist evidence synthesis was conducted that incorporated input from adults with intellectual disabilities and expert researchers. Following the development of an initial programme theory based on key literature and input from people with lived experience and academics working in this field, five major databases (MEDLINE, EMBASE, CINAHL, PsycINFO and ASSIA) and clinical trial repositories were systematically searched. Data from 79 studies were synthesised to develop context, mechanism and outcome configurations (CMOCs). RESULTS: The contexts and mechanisms identified related to the ability of adults with intellectual disabilities to actively take part in the intervention, which in turn contributes to what works, for whom and in what circumstances. The included CMOCs related to support involvement, negotiating the balance between autonomy and behaviour change, fostering social connectedness and fun, accessibility and suitability of intervention strategies and delivery and broader behavioural pathways to lifestyle change. It is also essential to work with people with lived experiences when developing and evaluating interventions. CONCLUSIONS: Future lifestyle interventions research should be participatory in nature, and accessible data collection methods should also be explored as a way of including people with severe and profound intellectual disabilities in research. More emphasis should be given to the broader benefits of lifestyle change, such as opportunities for social interaction and connectedness.

The physician's role in reducing health disparities for persons with epilepsy and intellectual disability: "it's not just epilepsy you really have to take a deeper dive."

Epilepsy affects approximately 25 % of people with intellectual disability (ID). Despite this high prevalence, evidence of health disparity exists in healthcare access and health outcomes for this population. Patients with ID experience additional challenges in accessing appropriate epilepsy care, and are at greater risk of experiencing inappropriate prescribing, polypharmacy and misdiagnosis compared with the general population. The expectations, attitudes and actions of physicians are key in addressing health inequalities, particularly those which disproportionately impact a specific group of patients, such as patients with ID and epilepsy. This qualitative study aimed to explore the views of specialist physicians as to why they believe this patient group are at a disadvantage when it comes to accessing appropriate epilepsy care, and how physicians can intervene to ensure that patients with ID are given equal access to suitable epilepsy care, and equal opportunity to achieve the best possible treatment outcomes. Semi-structured interviews were carried out with six physicians, located in six countries, who specialise in the care of persons with ID who have epilepsy. Interviews sought views on prognostic expectations, experiences of disparities in epilepsy care, and suggestions for advocacy interventions. Interviews were analysed using reflexive thematic analysis. Three core themes and nine subthemes were identified. Core themes included (1) 'Nervousness in care and treatment,' which reflected participants' descriptions of a nervousness by colleagues when treating epilepsy in patients with ID. (2) 'Taking a deeper dive' captured the harmful effects of accepting "common dogma," as well as the issue of a lack of clarity around treatment pathways for patients with epilepsy and ID. (3) 'Teach me' illustrated the importance of shared expertise, reflective practice and continued research and advocacy. Findings reflected participants' recommendations to address disparities in epilepsy care for patients with ID. These recommendations highlighted education and training, taking time to learn how to communicate in different ways, and regular reflection on personal assumptions and biases as important contributors to addressing inequalities in epilepsy care for patients with ID. It is hoped that findings will prompt those providing epilepsy care to reflect on their own practice and identify ways in which they might intervene to minimise inadvertent harm and reduce health disparities in epilepsy care for patients with ID.

Human immunodeficiency virus diagnosis and care among adults with intellectual and developmental disabilities who are publicly insured.

BACKGROUND: This study aimed to assess the prevalence of human immunodeficiency virus (HIV) testing, HIV diagnosis and receipt of HIV care among adults with intellectual and developmental disabilities (IDDs) who are publicly insured in the USA. DESIGN: This study is a cross-sectional analysis of Medicare-Medicaid linked data of adults with IDD who were publicly insured in 2012 (n = 878 186). METHODS: We estimated adjusted prevalence ratios of HIV testing, diagnosis and receipt of antiretroviral therapy (ART). We also identified the relationship between predisposing (age, gender, race and ethnicity), enabling (Medicare, Medicaid or both; rural status; geographical location; and county income) and need-related characteristics (IDD diagnosis and other co-occurring conditions) associated with these outcomes. RESULTS: Only 0.12% of adults with IDD who had no known HIV diagnosis had received an HIV test in the past year. The prevalence of HIV diagnosis among adults with IDD was 0.38%, although differences by type of IDD diagnosis were observed. Prevalence of HIV diagnosis differed by type of IDD. Among adults with IDD who were living with HIV, approximately 71% had received ART during 2012. The adjusted analyses indicate significant racial disparities, with Black adults with IDD making up the majority (59.11%) of the HIV-positive IDD adult population. CONCLUSIONS: Adults with IDD are a unique priority population at risk for HIV-related disparities, and the level of risk is differential among subtypes of IDD. People with IDD, like other people with disabilities, should be considered in prevention programming and treatment guidelines to address disparities across the HIV care continuum.

Improving palliative care for people with intellectual disability: a self-assessment of policies, practices and competencies in care services.

BACKGROUND: Providing care for ageing and vulnerable people with intellectual disability (ID) is challenging, and professionals working in ID care often have limited experience in palliative care. The current study provides insight into palliative care practices in ID care services and competencies of professionals and identifies ways to improve palliative care for people with ID. METHODS: For this study ten services in the Netherlands were recruited that provide care for people with mild to profound ID. Professionals in each of these services conducted a self-assessment of their palliative care policies and practices based on nine core element of palliative care described in the Dutch Quality Framework for Palliative Care. The self-assessment included a medical file review of a total of 100 people with ID who died non-suddenly. In addition, 424 professionals from the services returned a digital questionnaire on palliative care competencies and training needs. RESULTS: The self-assessments showed that individual care plans were recorded for people with ID and that multidisciplinary teams provided physical, psychological, social and spiritual care. However, other core elements of palliative care, such as cooperation with other organisations and expertise in palliative care, were less present in ID care services. Only half of the services collaborated with regional organisations in palliative care, and most services listed no requirements for the palliative care skills of their professionals. The questionnaire showed that almost 10% of the professionals reported that they were not at all competent in providing palliative care, and 74% felt that they needed training in palliative care. Reported areas for improvement in the provision of palliative care were increasing the quality of palliative care, improving the expertise of professionals and identifying palliative care needs earlier. CONCLUSIONS: To improve palliative care in ID care services changes are required both in competencies of professionals, and organisational policies and practices. Services should enhance awareness about palliative care for people with ID, strengthen collaboration with palliative care services, and offer training or support for professionals in assessing and meeting the needs of people with ID at the end of life.

Challenges and opportunities for improvement when people with an intellectual disability or serious mental illness also need palliative care: A qualitative meta-ethnography.

BACKGROUND: People with diagnoses of intellectual disability or serious mental illness have higher mortality rates due to physical comorbidities; better understanding is needed to guide best practice in provision of palliative care for these populations. AIMS: To identify multivoiced perspectives, drawn from lived experience of: what works, and what does not, in palliative care for people with intellectual disability or serious mental illness; challenges in, and opportunities to improve, palliative care. DESIGN: A systematically constructed qualitative meta-ethnography. Protocol published (PROSPERO: CRD42021236616). DATA SOURCES: MEDLINE, PsychINFO, CINAHL PLUS and Embase used without date limitations. Papers published in English, containing qualitative data on palliative care provision for people with a diagnosis of intellectual disability or serious mental illness were included. Global five-point strength score applied for relevance/quality appraisal. RESULTS: Familiarity (of location, people and/or things) is important for good palliative care. Assumptions and misunderstandings about the role of mental capacity assessment to appropriately involve the patient in decision-making are common. Adapting training for palliative care staff to address concerns and beliefs about mental illness is one of the methods that helps avoid diagnostic overshadowing. Proactive identification of service arrangements to meet needs of persons with personality, psychotic, delusional and bipolar affective disorders will help optimise care. CONCLUSIONS: Evidence, including the voices of people with intellectual disability or serious mental illness is urgently needed to guide efforts to improve their access to and experience of palliative care. More evidence is especially needed to understand, develop and implement best practice for people with psychosis, bipolar affective disorder, mania and personality disorder.

Safety and Efficacy of Allogeneic Umbilical Cord Blood Therapy for Global Development Delay and Intellectual Disability.

Most pediatric patients with global developmental delay (GDD) or intellectual disability (ID) have disrupted development. Since allogeneic umbilical cord blood (UCB) may exert neurotrophic effects, a prospective clinical trial was conducted to assess the efficacy and safety of UCB therapy for GDD and ID. A total of 13 children (ages 23-149 months) with GDD and ID were enrolled and followed up for 12 months. Under criteria of histocompatibility and cell number, allogeneic UCB units were selected and infused once intravenously, and adverse events were monitored. The Bayley Scale of Infant Development-II (BSID-II) was used as primary outcome measurement tool, and evaluations for various functional abilities were also implemented. Safety assessment did not reveal significant adverse effects. Functional improvements in mental and motor developments along with daily living activities and languages were observed at 12 months postintervention compared with the baseline abilities (P < 0.05). Furthermore, mental developmental quotient derived from BSID-II mental scale revealed significantly facilitated improvement during the first 3 months (P < 0.05). In the survey conducted 80.7 ± 13.0 months after UCB infusion to assess satisfaction and long-term safety, no long-term adverse effects were reported, and 70% of the guardians reported satisfaction with the UCB infusion. Long-term changes in two patients who were regularly followed up beyond the study completion were noticeable. One case observed for 4 years showed dramatic improvement until 12 months after UCB therapy, whereas she showed insignificant improvement beyond 12 months after the therapy. Another case showed alleviation of autism with findings of anti-inflammatory response in his peripheral blood after UCB infusion. This clinical study provides support for further applications of UCB as a therapeutic avenue for children with GDD or ID owing to its safety and partial efficacy. Due to patient heterogeneity, further studies focusing on specific clinical manifestations and etiologies are required. Registered at www.clinicaltrials.gov (NCT01769716).

Impact of the Care and Coercion Act on recorded involuntary care in intellectual disability care: a time-series analysis.

BACKGROUND: On 1 January 2020, the Care and Coercion Act came into effect in the Netherlands, subjecting involuntary care to more strict regulations and monitoring. This study tested changes in recordings of involuntary care during the transitional year of 2020 and after full implementation in 2021, which coincided with the first severe test of the new regulations, when COVID-19 lockdown measures were taken on 16 March 2020. METHODS: Data consisted of weekly counts of involuntary care from 1 January 2017 to 31 December 2021, taken from the care data of more than 3000 clients with intellectual disabilities and challenging behaviour of 's Heeren Loo, a large long-term care organisation in the Netherlands. An interrupted time series design was used to compare the period under the former law with the period under the new law and to the period during and after implementation, taking into account the impact of the COVID-19 lockdown measures on recordings of involuntary care. RESULTS: Under the new act in Week 1 of 2020, a statistically significant drop occurred in involuntary care counts, after which these counts gradually decreased. The start of 2021, the year in which the act was fully implemented, showed an initial increase in counts of involuntary care, followed by a decrease (all Ps < .001). The introduction of the COVID-19 lockdown measures did not statistically affect the weekly counts of involuntary care. CONCLUSIONS: The decrease in registered involuntary care after the Care and Coercion Act came into effect is a first indication of the efficacy of this new law that requires careful multidisciplinary consultations around the right of clients to respect their self-determination. Follow-up research should examine whether the impact of the new law aligns with clients' experiences of self-determination.

Barriers to Palliative Care Access in Patients With Intellectual Disability: A Scoping Review.

There is limited knowledge about inequalities regarding palliative care access among patients with intellectual disability. The present scoping review aimed to identify the existing barriers that limit access to palliative care (PC) in patients with intellectual disability. METHODS: We conducted a literature review on publications since 2014 from three databases (MEDLINE, Biomed Central, and Elsevier Scopus), along with hand searches in scientific journals. The review included peer-reviewed studies written in English and Spanish language with quantitative and qualitative study designs. The participants were patients with intellectual disability and health professionals who had worked with them or had experience in palliative care. RESULTS: 22 studies met the selection criteria. The barriers identified were under referral to palliative care, reduced access, communication, and limited knowledge and experience by health professionals. CONCLUSION: Patients with intellectual disability do not get referred to PC frequently. Health professionals and caregivers do not recognize when it is necessary to make a referral, and they need to improve their communication abilities. Also, health care workers need more training in PC, pain management, anticipation of death, and use of opioids. More research and education on the palliative care needs and care for patients with intellectual disabilities is needed.

Mental Health of Older Adults With Intellectual Disability.

Across most age groups, individuals with intellectual disability (ID) have higher rates of mental health conditions than the general population. Approximately one third of older adults with ID living in the community experience the same mental health conditions as older adults in the general population but have unique needs for assessment and treatment. A health equity framework offers an important social perspective in addressing these needs. Timely recognition and diagnosis of mental health conditions in individuals with ID involves collaboration with family and other supports. Among older adults with ID, polypharmacy is strongly associated with mental health conditions. Older adults with ID are more likely to use the emergency department for treatment of their mental health conditions. The majority of mental health providers are not trained in working with patients with ID. Education, policy changes, and research are needed to improve the mental health care of this population. [Journal of Psychosocial Nursing and Mental Health Services, 60(7), 10-14.].

Physical activity and mental health in children and adolescents with intellectual disabilities: a meta-analysis using the RE-AIM framework.

BACKGROUND: Children and adolescents with intellectual disabilities (IDs) tend to have lower levels of physical activity and poorer mental health than their typically developing peers. Studies on the effects of physical activity on the mental health of children with IDs using the Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework are scarce. METHODS: A systematic literature review using six databases (CINAHL, Eric, PsycINFO, PubMed, SPORTDiscus, and Web of Science) was conducted from January 2000 to September 2021. Studies reporting at least one physical activity intervention and mental health outcome in children and adolescents with IDs aged between 5 and 17 years were included in the meta-analysis. Preferred Reporting Items for Systematic Review and Meta-Analysis guideline, Comprehensive Meta-Analysis, and the RE-AIM framework were utilized. RESULTS: A total of 15 studies that met the inclusion criteria were included in the meta-analysis. The effects of physical activity on mental health in children and adolescents with IDs were significant and large (Hedges' g = 0.897, p < 0.01), with medium effects on psychological health (Hedges' g = 0.542, p < 0.01) and large effects on cognitive function (Hedges' g = 1.236, p < 0.01). Randomized controlled trial (RCT) design and intervention components (> 120 minutes per week, therapeutic, and aerobic exercise) demonstrated the strongest effects. Moreover, study background (publication year, study location, and sample size), participant characteristics (age and sex), and Maintenance (RE-AIM framework) moderated the effects of physical activity on mental health. Based on the RE-AIM framework, there were higher proportions in the dimensions of Reach and Effectiveness than Adoption, Implementation, and Maintenance. CONCLUSIONS: Physical activity appears to have positive effects on mental health, including psychological health and cognitive function, in children and adolescents with IDs. Physical activity interventions using the RE-AIM framework are recommended to assess short- and long-term impacts and translate scientific evidence into practice. TRIAL REGISTRATION: The protocol for this meta-analysis was registered with PROSPERO ( CRD42021256543 ).

Cancer treatment and decision making in individuals with intellectual disabilities: a scoping literature review.

Adults with intellectual disabilities face disparities in receipt of cancer-related care, which could contribute to an increase in the rate of cancer-related deaths in this population. Yet, relatively little is known about the optimal cancer treatment or treatment decision making in adults with intellectual disabilities. This scoping review assessed PubMed and Embase for available literature on the description of cancer treatment and treatment decision making in patients with intellectual disabilities, published in English between Jan 1, 2000, and April 30, 2020. We appraised 90 included articles and extracted quotes addressing aspects related to cancer treatment and treatment decision making in patients with intellectual disabilities. Themes and subcategories were subsequently derived. Our findings revealed that the available literature describes that people with intellectual disabilities tend to have less intensive cancer treatment than generally administered, but with little evidence supporting this approach. This finding indicates that this medically vulnerable patient population needs tailored attention in both cancer care and research. We propose changes to practice and conclude by addressing the urgent need to pay specific attention to this patient population.

Joubert syndrome: Molecular basis and treatment.

Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. Such pleiotropic characteristics are typical of many disorders involving primary cilium aberrations, providing a significant overlap between JS and other ciliopathies such as nephronophthisis, Meckel syndrome, and Bardet-Biedl syndrome. This review will describe some characteristics of JS associated with changes in 35 genes, and will also address subtypes of JS, clinical diagnosis, and the future of therapeutic developments.

[Oncological treatment of patients with intellectual disability: too limited?] / Oncologische behandeling van patiënten met een verstandelijke beperking.

Genetic factors and lifestyle contribute to specific risks for developing cancer in people with intellectual disabilities. However, early detection and oncological care are less accessible to people with intellectual disabilities than to the general population, contributing to relatively more cancer-related deaths in this population. In order to optimally adapt oncological care to the characteristics and needs of people with intellectual disabilities, regular treatment may need to be adjusted sometimes. Yet, little is known about treatment adjustments in this setting. Scientific articles describing adaptations in oncological care for people with intellectual disabilities often provide no reasons as to why these changes were made. Adequately adapted oncological care for people with intellectual disabilities therefore mainly depends on affinity and experience of individual clinicians. Awareness for abnormal symptoms, genetic factors, and collaboration with other care providers, like the intellectual disability physician is advised.

Palliative care for adults with intellectual disability.

Contemporary disability principles and values suggest that adults with intellectual disability should be able to access and participate in any mainstream service rather than having a separate service for them. In the case of healthcare services, achievement of optimal access to and participation in healthcare by adults with intellectual disability requires the presence of both adequate disability supports for the person and reasonable adjustments to generic health systems to enable a person-centred approach to care. Development of an interface between people with lived experience of intellectual disability, disability and health sectors help clarify the required nature of disability supports and types of adjustments to mainstream health services. The article describes a case study of an adult with intellectual disability with a serious illness warranting palliative care, and focusses on the reasonable adjustments to mainstream core palliative care principles for adults with intellectual disability.

Understanding inequalities in COVID-19 outcomes following hospital admission for people with intellectual disability compared to the general population: a matched cohort study in the UK.

OBJECTIVES: This study explores the hospital journey of patients with intellectual disabilities (IDs) compared with the general population after admission for COVID-19 during the first wave of the pandemic (when demand on inpatient resources was high) to identify disparities in treatment and outcomes. DESIGN: Matched cohort study; an ID cohort of 506 patients were matched based on age, sex and ethnicity with a control group using a 1:3 ratio to compare outcomes from the International Severe Acute Respiratory and emerging Infections Consortium WHO Clinical Characterisation Protocol UK. SETTING: Admissions for COVID-19 from UK hospitals; data on symptoms, severity, access to interventions, complications, mortality and length of stay were extracted. INTERVENTIONS: Non-invasive respiratory support, intubation, tracheostomy, ventilation and admission to intensive care units (ICU). RESULTS: Subjective presenting symptoms such as loss of taste/smell were less frequently reported in ID patients, whereas indicators of more severe disease such as altered consciousness and seizures were more common. Controls had higher rates of cardiovascular risk factors, asthma, rheumatological disorder and smoking. ID patients were admitted with higher respiratory rates (median=22, range=10-48) and were more likely to require oxygen therapy (35.1% vs 28.9%). Despite this, ID patients were 37% (95% CI 13% to 57%) less likely to receive non-invasive respiratory support, 40% (95% CI 7% to 63%) less likely to receive intubation and 50% (95% CI 30% to 66%) less likely to be admitted to the ICU while in hospital. They had a 56% (95% CI 17% to 102%) increased risk of dying from COVID-19 after they were hospitalised and were dying 1.44 times faster (95% CI 1.13 to 1.84) compared with controls. CONCLUSIONS: There have been significant disparities in healthcare between people with ID and the general population during the COVID-19 pandemic, which may have contributed to excess mortality in this group.

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.

Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and spondylocostal dysplasia (SCD) between April 2014 and October 2020. Polygraphic data, clinical management, and patients' outcome were analyzed. Thirty-one patients were included (8 SEDC, 3 MD, 4 SEMD, 1 ADO, 4 GD, 3 AD, and 8 SCD). Sixteen patients had obstructive sleep apnea (OSA): 11 patients (2 with SEDC, 1 with SEMD, 1 with ADO, 1 with GD, 2 with AD, and 4 with SCD) had mild OSA, 2 (1 SEMD and 1 GD) had moderate OSA, and 3 (1 SEDC, 1 MD, 1 SEMD) had severe OSA. Adenotonsillectomy was performed in one patient with SCD and mild OSA, and at a later age in two other patients with ADO and AD. The two patients with moderate OSA were treated with noninvasive ventilation (NIV) because of nocturnal hypoxemia. The three patients with severe OSA were treated with adenotonsillectomy (1 SEDC), adeno-turbinectomy and continuous positive airway pressure (CPAP; 1 MD), and with NIV (1 SEMD) because of nocturnal hypoventilation. OSA and/or alveolar hypoventilation is common in patients with skeletal dysplasias, underlining the importance of systematic screening for SDB. CPAP and NIV are effective treatments for OSA and nocturnal hypoventilation/hypoxemia.

Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells.

Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by impaired communication skills, ataxia, motor and balance deficits, intellectual disabilities, and seizures. The genetic cause of AS is the neuronal loss of UBE3A expression in the brain. A novel approach, described here, is a stem cell gene therapy which uses lentivector-transduced hematopoietic stem and progenitor cells to deliver functional UBE3A to affected cells. We have demonstrated both the prevention and reversal of AS phenotypes upon transplantation and engraftment of human CD34+ cells transduced with a Ube3a lentivector in a novel immunodeficient Ube3amat-/pat+ IL2rg-/y mouse model of AS. A significant improvement in motor and cognitive behavioral assays as well as normalized delta power measured by electroencephalogram was observed in neonates and adults transplanted with the gene modified cells. Human hematopoietic profiles observed in the lymphoid organs by detection of human immune cells were normal. Expression of UBE3A was detected in the brains of the adult treatment group following immunohistochemical staining illustrating engraftment of the gene-modified cells expressing UBE3A in the brain. As demonstrated with our data, this stem cell gene therapy approach offers a promising treatment strategy for AS, not requiring a critical treatment window.