Journal of Intellectual Disability Research最新文献

Background: Adults with Down syndrome (DS) are less physically active than those without DS. Among adults with DS, those with congenital heart disease (CHD) have lower physical activity than those without CHD. Many trials exclude people with CHD from exercise trials; thus, the safety and effectiveness of these interventions for increasing physical activity and fitness in adults with DS and CHD are not known. The purpose of this analysis was to evaluate the safety and preliminary effectiveness of an exercise intervention in adults with DS and CHD for increasing physical activity and fitness.

Method: This secondary analysis used data from a 12-month randomized controlled physical activity intervention for adults with DS. Safety of the intervention was assessed as number and severity of adverse events and compared by CHD status. Changes in physical activity (accelerometry) and fitness (VO_2peak) among those with CHD were evaluated using mixed effects models.

Results: Thirty-six participants had CHD and were randomized to one of the exercise intervention arms (average age 25.5 years, 55.6% female). There were no differences in number (CHD: 18 vs. no CHD 22 events; rate ratio 1.02, p = 0.94) or severity (p = 0.25) of adverse events between those with and without CHD. Participants significantly increased moderate-to-vigorous physical activity minutes per day (+8.6 min/day, p = 0.045) and VO_2peak (+2.1 mL/kg/min, p = 0.036).

Discussion: Results from this analysis show preliminary support for young adults with DS and CHD to safely participate in exercise interventions that are appropriately designed for their inclusion. These interventions also demonstrate preliminary effectiveness for increasing physical activity and fitness. Findings should be repeated and confirmed in a larger, more diverse sample to understand the safety and impact of exercise on health in persons with DS and CHD.

Background: Despite the growing relevance of dementia in people with intellectual disabilities, there are currently no national recommendations in Austria to inform diagnostic protocols within care facilities. In order to gain a state-of-the-art understanding of the issue, the aim of this study was to map out the process currently followed by formal caregivers when they suspect a person in their care has dementia.

Method: We conducted 30 interviews with formal caregivers working in three care facilities for people with intellectual disabilities in Styria, an Austrian province. The interviews were transcribed and analysed using structured qualitative content analysis.

Results: In order to notice signs of early dementia and start the diagnostic process, a long-term relationship between formal caregivers and the person with intellectual disabilities appears to be crucial. Standardised observational instruments for monitoring changes were used by only three formal caregivers. In 19 out of 30 cases, no diagnostic assessment was carried out, even though dementia was suspected.

Conclusions: To uphold the right to health for older adults with intellectual disabilities, policies and recommendations must be established in Austria to ensure timely and accurate dementia diagnoses. This requires the introduction of standardised observational and documentation tools, clear diagnostic pathways and specialist diagnostic centres.

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: People with intellectual disabilities (ID) are known to have a higher risk for a wide range of health conditions compared to the general population. However, there is little research comparing a more comprehensive range of diseases and conditions at different ages. Therefore, the aim of this study was to explore the overall age-specific diagnostic pattern among people with ID compared to the general population.

Method: Of all people living in Skåne, the southernmost part of Sweden (n = 1 274 727), those with a diagnosis indicating ID (F70-F79 or Q90 according to ICD-10) and/or service and support for people with ID/Autism spectrum disorders (ASD) constituted the ID cohort (n = 14 716). After excluding those in the same family/household as someone in the ID cohort, the remaining people comprised the general population cohort (gPop; n = 1 226 955). The main outcome was diagnoses by body system (i.e., ICD-10 chapters) during 2014-2021. Differences between the cohorts were investigated using Poisson regression, thereby estimating relative risks for the ID cohort vs. the gPop cohort.

Results: Four different diagnostic patterns among people with ID compared to the general population were identified: (1) increased risks with an age-related decline (ICD-10 Chapters III, IV, V, VI, VII, VIII, IX, XI, XII and XIV), (2) increased risk for higher ages but overall similar risks at younger ages (Chapters I and X) and (3) similar or decreased risk across age groups (Chapters II and XIII).

Conclusions: For most body systems, there was an increased risk of diagnosis for people with ID, although in some cases, it declined with age. Although there are some potential explanations for this age-related decline, further investigations are needed to understand the pathways behind this phenomenon. Cancer diagnoses stood out in that a decreased risk was found for the ID cohort. This needs further attention. One reason may be due to lower rates of cancer screening in this group. The need for screening interventions tailored for people with ID has been highlighted for at least two decades, but few seem to have been developed, tested or implemented, which means that such interventions are still urgently warranted.

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: Until recently, no diagnostic instrument was available to classify posttraumatic stress disorder (PTSD) in individuals with severe or moderate intellectual disability (SID). This study investigates the Diagnostic Interview Trauma and Stressors-Severe Intellectual Disability (DITS-SID), a caregiver-administered interview corresponding with DSM-5(TR) PTSD criteria for children ≤ 6 years. Interrater reliability and convergent and content validity were examined.

Methods: The DITS-SID, Aberrant Behavior Checklist (ABC) and Child and Adolescent Trauma Screener 3-6 (KJTS 3-6) were administered to relatives and professional caregivers of 97 adults with SID.

Results: Interrater reliability was good to excellent. Convergent validity was supported by correlations with ABC and KJTS 3-6 scores. Content validity appeared good as adults who met PTSD symptom criteria had, on average, higher interference scores, higher DITS-SID atypical symptom scores and a greater number of experienced traumas and stressors. No association was found between meeting PTSD symptom criteria and PTSD criterion A.

Conclusion: The DITS-SID appears feasible for classifying PTSD in adults with SID. Future research should evaluate its validity in children with SID.

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: This study examined the experiences of infants diagnosed with fragile X syndrome (FXS) in the newborn period and their caregivers during the infant's first year of life. The primary objective was to understand caregiver concerns and access to early intervention services for infants diagnosed with FXS presymptomatically.

Methods: Participants for this study were part of a pilot intervention programme for newborns with FXS and their caregivers. A mixed-methods approach was taken combining data from caregiver questionnaires as well as intervention session notes to identify caregiver concerns and early intervention services.

Results: Caregivers of infants with FXS consistently reported concerns in motor development in the first few months of life with increasing concern regarding communication development closer to 12 months of age. Despite all being eligible based on having an established condition and instruction for accessing early intervention services provided by the intervention team, only half of participants were enrolled in their state's Part C programme by the child's first birthday. Occupational therapy was the most accessed service (33% of infants), followed by physical therapy (27%), feeding therapy (20%), speech therapy (13%) and developmental play therapy (7%).

Conclusions: Although one of the main benefits of earlier diagnosis is purported to be earlier access to interventions, we found infants diagnosed with FXS prior to emergence of symptoms experienced barriers to accessing early intervention services, despite FXS being an established condition for Part C services. These findings highlight the need for further exploration of the referral process for infants diagnosed with neurogenetic conditions in infancy.