Journal of Intellectual Disability Research最新文献

Background: Obstructive sleep apnoea (OSA) is highly prevalent in people with intellectual disabilities, and when left untreated, negatively influences daily activities and social interactions. Polysomnography (PSG) remains the diagnostic gold standard but can be an obtrusive and strenuous endeavour in people with intellectual disabilities, related to factors such as communicative impairment, anxiety, challenging behaviour and sensory hypersensitivity. Alternative methods to assess OSA severity by estimating the apnoea-hypopnoea index (AHI) have been proposed, based on heart and respiration rate variability signals. These signals could potentially be obtained with less obtrusive monitoring devices. We investigated whether this approach is also suitable in people with intellectual disabilities.

Methods: We analysed overnight PSG data from 73 participants with intellectual disabilities. AHI was predicted by an algorithm trained to use cardiorespiratory inputs (from electrocardiogram and respiratory induction plethysmography) to detect the occurrence of sleep-disordered breathing events and total sleep time. It was compared to the PSG-derived AHI by means of Spearman's correlation and intraclass correlation coefficients (ICC). The diagnostic capacity of the algorithm to differentiate between OSA severity groups was evaluated using Cohen's κ coefficient of agreement and accuracy, using near-boundary double labelling, with the following boundaries: 'no OR mild OSA' 2.4 ≤ AHI < 7.0, 'mild OR moderate OSA' 12.4 ≤ AHI < 17.4 and 'moderate OR severe OSA', 26.6 ≤ AHI < 35.2.

Results: The algorithm achieved a strong Spearman's correlation between the predicted and PSG-derived AHI of 0.76 (p < 0.001) and a moderate ICC of 0.74 (p < 0.001). Differentiation in OSA severity classes was done with a κ of 0.58 and accuracy of 68.5%, indicating a moderate level of agreement.

Conclusions: We show the potential of determining the severity of OSA in people with intellectual disabilities by estimating AHI using an algorithm based on surrogate cardiorespiratory signals. This allows the development of less obtrusive diagnostic modalities focusing only on cardiorespiratory inputs to assess OSA severity.

Background: Improving care and research for individuals with genetic intellectual disabilities (GID) requires the identification and measurement of relevant patient reported outcomes (PROs). PROs represent the patient perspective on their health status. Currently, a myriad of potentially irrelevant PROs is being measured for individuals with GID. Therefore, the aim of this study is to identify the most relevant PROs through a Delphi survey and consensus meetings and develop a generic core PRO set applicable to the whole GID population to be used in care and research.

Methods: PROs, previously identified through a comprehensive literature review and a qualitative study, were integrated and conceptualised into a pilot generic core PRO set with an expert group. This pilot set was presented in a two-round Delphi survey with individuals with GID, caregivers and experts. Consensus was set at 60% or more of all participant groups rating a PRO as important for inclusion in the final core PRO set, or as not important for exclusion. The Delphi surveys were followed by two consensus meetings with individuals with GID, caregivers and experts to reach consensus on the undecided PROs.

Results: Twelve individuals with GID, 21 caregivers and 28 experts (total n = 61) participated in the first Delphi round. Twenty-nine PROs were presented to the participants. In the first round, consensus was reached on one important PRO 'fatigue'. In the second round, consensus was reached on 12 important PROs: fatigue, sleep, physical functioning/activities, quality of life, social functioning/participation, perceived health, cognitive functioning, depressive symptoms, mobility/functioning of the lower extremities, receptive communication, expressive communication and sensory overresponsivity. During the consensus meetings, consensus was reached on seven additional important PROs: pain, anxiety/stress, anger, vision, hearing, gastrointestinal symptoms and mental functioning. This resulted in a final generic core PRO set including the 19 PROs.

Conclusions: This study identified the most relevant PROs for GID, marking the final step in developing a generic core PRO set for the whole GID population. This GID core PRO set provides a framework to guide care, research and policymaking. The next step involves selecting and validating corresponding patient reported outcome measures (PROMs) to adequately measure these PROs: the GID core PROM set.

Introduction: Early studies demonstrated a higher risk for SARS-CoV-2 virus infection and severe COVID-19 outcomes such as hospitalisation, intensive care unit admission and death among people with an intellectual disability or other chronic conditions. However, the extent to which COVID-19 vaccination has affected the risk of these outcomes remains unclear.

Methods: We conducted a case-control study to examine the association between vaccination and SARS-CoV-2 virus infection risk in people with an intellectual disability and the general population. COVID-19 cases aged 19 years and older confirmed to be infected between 28 January 2020 and 31 December 2021 were obtained from the British Columbia (BC) COVID-19 Integrated Case List, and up to five controls were selected from the province's healthcare client registry matching on sex, age and residential region. COVID-19 vaccination status was determined using the province's immunisation registry. The Community Living BC (CLBC) Registry of supported adults was linked to identify the intellectual disability status of each case and control. Odds ratios (OR) and 95% confidence intervals (95% CI) were estimated using the conditional logistic regression model. Severe COVID-19 outcomes were ascertained using hospitalisation and death registry databases. Cox regression was used to estimate hazard ratios (HRs) and 95% CIs for the outcomes among COVID-19 cases with and without an intellectual disability. We adjusted for sex, age, residential area and comorbidities.

Results: CLBC-supported adults with an intellectual disability were less likely to contract SARS-CoV-2 virus (OR = 0.66, 95% CI 0.61-0.71), and the protective association was stronger when fully vaccinated (OR = 0.40, 95% CI 0.34-0.48). Once infected, adults with an intellectual disability had a higher risk for COVID-19-associated hospitalisation (HR = 1.96, 95% CI 1.60-2.39), ICU admission (HR = 1.61, 95% CI 1.10-2.36) and death (HR = 1.88, 95% CI 1.15-3.07).

Conclusion: COVID-19 vaccination was effective in reducing the risk of SARS-CoV-2 virus infection among people with an intellectual disability. Safety measures such as prioritised vaccination are important steps for protecting vulnerable people with an intellectual disability from SARS-CoV-2 virus infection, especially as COVID-19 cases with an intellectual disability were more likely to suffer severe health outcomes.

Background: Physical activity is essential for preventing noncommunicable diseases and improving health parameters. However, individuals with intellectual disabilities often struggle to meet recommended activity levels. Sustainable solutions and long-term follow-up are crucial for evaluating intervention efficacy.

Methods: This mixed-method longitudinal follow-up study examines the effects and experiences of a 12-week web-based exercise programme on individuals with intellectual disabilities (ID). Body composition, physical activity levels and waist circumference were measured before and after the 12-week intervention period as well as 12 months after the end of the intervention period (i.e., long-term follow-up). Experiences were analysed using semistructured interviews. In the data analysis, repeated measures ANOVA with Bonferroni correction was utilised to investigate changes over time.

Results: No significant changes were observed after 12 months, but there were effects on postintervention compared with preintervention on waist circumference. Some participants reported experiencing health benefits, which contributed to motivation, while others lacked motivation and were unaware that they could continue to exercise.

Conclusions: While improvements were noted post-intervention, sustaining these gains proved challenging during long-term follow-up. This study highlights the potential of web-based exercise programmes to support individuals with ID in increasing physical activity levels. However, the findings also underscore the need for more tailored and sustainable interventions, including structured support and ongoing engagement strategies, to enable lasting health behaviour change over time.

Background: Individuals with intellectual disabilities (ID) are disproportionately exposed to several risk factors for suicidality. However, no meta-analysis has yet quantified the relative risk of suicide and self-harm, including suicide attempts, within this population. The aim of this project was to bring together and synthesise the research on suicidality among individuals with ID.

Methods: A systematic review and meta-analysis was carried out. Medline, Embase, Web of Science and PsycInfo were searched from inception through 4 August 2025. Observational studies with a quantitative design, evaluating the relative risk of suicide or self-harm, including suicide attempts, in individuals with and without ID, were included. Risk of bias was assessed using a shortened version of the Risk Of Bias In Non-randomized Studies-of Exposure (ROBINS-E) checklist. A random effects model was used to synthesise the results.

Results: Eleven primary studies were included in the review (n = 241 438). The level of ID severity was only presented in two articles. Compared to the general population, the pooled relative risk for death by suicide was 0.54 (95% CI 0.33 to 0.89, k = 6, I² = 77%) and the relative risk for self-harm was 3.16, (95% CI 2.3 to 4.35, k = 6, I² = 89%).

Conclusion: The findings suggest that individuals with ID have an elevated risk of self-harm but a lower risk of dying by suicide compared to the general population. However, these results should be interpreted with caution due to the limited number of primary studies and substantial between-study heterogeneity. Further, separate analyses of mild versus moderate-to-profound ID are warranted.

Background: Rare genetic variation can predispose individuals to the development of schizophrenia, with certain genes and copy number variants (CNVs) conferring risk at the exome/genome-wide level. Despite this strong association, little is known about antipsychotic effectiveness and tolerability among individuals with most of these disorders. As such, this retrospective chart review sought to gather more data regarding the real-world use of antipsychotics in this context.

Methods: This largely descriptive, cross-sectional and retrospective chart review took place at a developmental disabilities mental health clinic. Clinical information was primarily derived from electronic medical records. Individuals with a history of psychosis and antipsychotic exposure identified as having a genetic variant known to confer exome/genome-wide risk for schizophrenia were included in the study.

Results: Of the 1196 charts reviewed, 24 individuals with a relevant genetic variant were identified, 11 of whom had experienced psychotic symptoms that were treated with antipsychotic medication. Six have 22q11.2 deletion syndrome, two have 15q11-q13 duplication syndrome and one individual each has a 16p11.2 duplication, a 7q11.23 duplication and a missense variant in TRIO. Overall, antipsychotic therapy tended to be reasonably effective and well tolerated (particularly among those individuals who do not have 22q11.2 deletion syndrome), despite side effects of some kind occurring in most cases.

Conclusion: While this study had numerous limitations that prevent firm conclusions from being drawn, it provides preliminary evidence that antipsychotics may be relatively safe and effective in at least some of the genetic disorders most strongly associated with schizophrenia.

Background: Epilepsy is a chronic neurological disorder that is prevalent among people with intellectual disabilities, profoundly affecting various aspects of life. Understanding the association between epilepsy and reduced quality of life in this population may benefit from exploring self-determination, a key dimension of quality of life. Self-determination evolves throughout life, shaped by personal and environmental factors, including intellectual disabilities and access to supportive interventions. This review aims to map existing research to identify the personal and environmental factors that affect self-determination among people with intellectual disabilities and epilepsy.

Methods: Eight electronic databases (Embase, MEDLINE ALL, PsycINFO, CINAHL, Cochrane Central Register of Controlled Trials, Web of Science, ERIC and Google Scholar) were systematically searched in December 2022 and again on 2 October 2024 to update the previous search. All English-language studies presenting original research data on self-determination among people (above age 10) with intellectual disabilities and epilepsy were included, without date restrictions. The methodological quality of included studies was assessed using the Mixed Methods Appraisal Tool (MMAT). To extract the data, we used the PCC (population, concept and context) framework. To analyse the data, we employed descriptive thematic analysis.

Results: Of the 1485 records identified, nine studies were eligible. These studies employed a qualitative design (n = 7) or were quantitative case studies (n = 2). Together, the studies included 68 participants with varying levels of intellectual disabilities and types of epilepsy and 115 caregivers. Five overarching themes were identified: (1) different approaches to managing epilepsy (n = 4); (2) information sharing and a trust in the collaboration with health care professionals (n = 5); (3) the need for recognition and autonomy in health care and support (n = 5); (4) the tendency of parents and professionals to take over decision making and associated concerns, responsibilities and emotions (n = 6); (5) the importance of considering personal preferences in care and support (n = 5).

Discussion: This review reveals the complex interplay between personal factors (i.e., individual coping strategies) and environmental factors (i.e., characteristics of the relationships with parents and professionals) in shaping self-determination among people with intellectual disabilities and epilepsy. These insights stress the importance of developing interventions to enhance self-efficacy and of specific training to equip caregivers and professionals with autonomy supportive skills to improve well-being at the individual level. This review also highlights a need for quantitative studies to enhance generalisability of findings.

Objectives: Children with Down syndrome (DS) have deficits in motor skills that lead to stereotypical changes in the characteristics and adaptations of their movement. The aim of the study was to investigate locomotor characteristics and muscle thickness of the selected muscles in the lower extremity and the relationship between muscle thickness and locomotor parameters in children with DS and typically developing peers.

Methods: Children with DS (n = 18; age: 5.36 ± 0.60) and typically developing (TD) (n = 30; age: 5.62 ± 0.60) aged 4-7 years participated. Lower limb muscle thickness was assessed through B-mode ultrasound. The GAITRite system evaluated gait and running spatiotemporal parameters, using linear regression to determine the strength of the relationship between muscle thickness and these parameters.

Results: Compared to the TD group, the DS group had significantly less lower limb muscle thickness and differed significantly in gait and running parameters (p < 0.05), except for gait stance and swing percentages. Tibialis anterior muscle thickness predicted step length in TD (1.546 ± 0.081) and DS (1.501 ± 0.148), respectively, explaining 16.3% and 31.4% of gait, and in DS, 26.8% of running.

Conclusions: Muscle thickness may serve as an indicator of muscle strength and coordination, contributing to the understanding of their impact on locomotor performance in DS children, particularly with regard to the tibialis anterior muscle, which is essential for dorsiflexion and foot placement control. The prioritisation of stability for gait and running is essential due to reduced velocity, increased step width and shorter step length in DS children.

Background and purpose: Despite its health benefits, physical activity levels remain low in adults with intellectual disabilities. Efforts to promote engagement in activity are limited in part by a lack of appropriate assessment tools for evaluating activity levels in this population. This study aims to assess the feasibility of applying standard accelerometer wear protocols among adults with intellectual disabilities.

Methods: This retrospective study included 28 adults with intellectual disabilities. Demographic and accelerometer wear and activity data were analysed via descriptive statistics. Paired sample t-tests were conducted to assess differences in activity intensities on weekdays versus weekend days.

Results: The majority (67.9%) of participants met standard wear time criteria. Participants engaged in an average of 19.51 min of moderate-to-vigorous physical activity (MVPA) and 602 min of sedentary behaviour per day. Engagement in light intensity physical activity and MVPA was higher on weekdays compared to weekends.

Conclusion: Standard accelerometry protocols appear feasible for use in populations of adults with intellectual disabilities.