People with Down syndrome (DS) have a strong genetic predisposition to Alzheimer's disease (AD). However, the clinical burden and associated risk factors in diverse, non-Western populations remain less understood. This study aimed to investigate the prevalence of dementia in Japanese adults with DS and to identify modifiable clinical factors associated with dementia.
Methods
This cross-sectional multicentre study surveyed 133 adults with DS (mean age 50.1 years) residing in 45 welfare facilities across Japan in 2019. Dementia was diagnosed by a consensus panel of physicians using established criteria (DSM-5, ICD-10, DC-LD) after comprehensive assessments, including the Japanese version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-J). Logistic regression analysis was performed to identify factors independently associated with dementia.
Results
Forty-six participants (34.6%) were diagnosed with dementia. The prevalence rose sharply with age: 0% in their 30s, 30.8% in their 40s, 31.6% in their 50s and 65.5% in their 60s. After adjusting for covariates, older age, female sex, dyslipidaemia and visual impairment were independently associated with dementia.
Conclusions
This study, the largest of its kind in Asia, confirms a high prevalence of dementia in institutionalized Japanese adults with DS. Crucially, this study is the first to identify dyslipidaemia and visual impairment as independent and potentially modifiable risk factors in this population. These findings highlight tangible targets for clinical interventions aimed at mitigating dementia risk in people with DS.
{"title":"Prevalence and Modifiable Risk Factors of Dementia in People With Down Syndrome: Cross-Sectional Study of Japan in Collaboration With the Intellectual Diversity for Goodness Research Consortium (INDIGO-2019)","authors":"Shintaro Takenoshita, Seishi Terada, Tomokazu Inoue, Taku Kurozumi, Manabu Takaki, Ryozo Kuwano, Shigeru Suemitsu","doi":"10.1111/jir.70075","DOIUrl":"10.1111/jir.70075","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>People with Down syndrome (DS) have a strong genetic predisposition to Alzheimer's disease (<span>AD</span>). However, the clinical burden and associated risk factors in diverse, non-Western populations remain less understood. This study aimed to investigate the prevalence of dementia in Japanese adults with DS and to identify modifiable clinical factors associated with dementia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional multicentre study surveyed 133 adults with DS (mean age 50.1 years) residing in 45 welfare facilities across Japan in 2019. Dementia was diagnosed by a consensus panel of physicians using established criteria (DSM-5, ICD-10, DC-LD) after comprehensive assessments, including the Japanese version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-J). Logistic regression analysis was performed to identify factors independently associated with dementia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Forty-six participants (34.6%) were diagnosed with dementia. The prevalence rose sharply with age: 0% in their 30s, 30.8% in their 40s, 31.6% in their 50s and 65.5% in their 60s. After adjusting for covariates, older age, female sex, dyslipidaemia and visual impairment were independently associated with dementia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study, the largest of its kind in Asia, confirms a high prevalence of dementia in institutionalized Japanese adults with DS. Crucially, this study is the first to identify dyslipidaemia and visual impairment as independent and potentially modifiable risk factors in this population. These findings highlight tangible targets for clinical interventions aimed at mitigating dementia risk in people with DS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 3","pages":"329-336"},"PeriodicalIF":2.0,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12872375/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frances R Vereijken, Noud Frielink, Andrew Jahoda, Petri J C M Embregts
Background: Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative. This scoping review provides an overview of existing literature to inform future research.
Method: The review was conducted in accordance with the PRISMA for Scoping Review statement. Seven databases were systematically searched in April 2022 (with a final update in May 2025). Studies that were published in English in peer-reviewed journals and examined the needs and experiences of family members collaborating with support staff in residential care settings were considered for inclusion. The Mixed Methods Appraisal Tool was used to assess risk of bias and a thematic synthesis was conducted to analyse the data.
Results: Ten articles met the inclusion criteria. Four studies focused on family members' experiences following a relative's transition from institutional or hospital settings, one study on sibling-staff collaboration, one on the roles of adult siblings, one exploring family experiences during the COVID-19 pandemic, one on parental perceptions of communication, one on family experiences postabuse inquiry and one focused on collaboration within hospital settings. The studies involved relatives with severe (n = 1), mild, severe and profound (n = 1), severe to profound (n = 1) or profound intellectual disabilities (n = 3). Four did not mention the level of intellectual disability. The synthesis yielded four analytical themes: (1) complexities in building personal relationships amidst changing contexts (n = 8), (2) navigating how to address unmet needs and the vulnerability it exposes (n = 3), (3) a desire for partnership and recognition (n = 10) and (4) a desire for staff to uphold their relative's quality of life (n = 10).
Discussion: This review highlights key areas for future research, including how family characteristics, disability severity and living arrangement can influence needs and experiences when collaborating with support staff. Additionally, further insight is needed on what impacts the dynamic nature of family-staff relationships. Lastly, understanding the views and experiences of support staff regarding family involvement is important, as it can aid the development of collaboration that is sensitive to their specific needs.
{"title":"Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home.","authors":"Frances R Vereijken, Noud Frielink, Andrew Jahoda, Petri J C M Embregts","doi":"10.1111/jir.70074","DOIUrl":"https://doi.org/10.1111/jir.70074","url":null,"abstract":"<p><strong>Background: </strong>Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative. This scoping review provides an overview of existing literature to inform future research.</p><p><strong>Method: </strong>The review was conducted in accordance with the PRISMA for Scoping Review statement. Seven databases were systematically searched in April 2022 (with a final update in May 2025). Studies that were published in English in peer-reviewed journals and examined the needs and experiences of family members collaborating with support staff in residential care settings were considered for inclusion. The Mixed Methods Appraisal Tool was used to assess risk of bias and a thematic synthesis was conducted to analyse the data.</p><p><strong>Results: </strong>Ten articles met the inclusion criteria. Four studies focused on family members' experiences following a relative's transition from institutional or hospital settings, one study on sibling-staff collaboration, one on the roles of adult siblings, one exploring family experiences during the COVID-19 pandemic, one on parental perceptions of communication, one on family experiences postabuse inquiry and one focused on collaboration within hospital settings. The studies involved relatives with severe (n = 1), mild, severe and profound (n = 1), severe to profound (n = 1) or profound intellectual disabilities (n = 3). Four did not mention the level of intellectual disability. The synthesis yielded four analytical themes: (1) complexities in building personal relationships amidst changing contexts (n = 8), (2) navigating how to address unmet needs and the vulnerability it exposes (n = 3), (3) a desire for partnership and recognition (n = 10) and (4) a desire for staff to uphold their relative's quality of life (n = 10).</p><p><strong>Discussion: </strong>This review highlights key areas for future research, including how family characteristics, disability severity and living arrangement can influence needs and experiences when collaborating with support staff. Additionally, further insight is needed on what impacts the dynamic nature of family-staff relationships. Lastly, understanding the views and experiences of support staff regarding family involvement is important, as it can aid the development of collaboration that is sensitive to their specific needs.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145804693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Danielle B. Renzi, Jamie Garry, Jane Hubbard, Marianne Nordstrøm, Kathleen V. Fitch, Takara L. Stanley, Barbara R. Pober
<div> <section> <h3> Background</h3> <p>Williams syndrome (WS) is a rare neurodevelopmental disorder caused by a microdeletion on chromosome 7q. Previous research indicates that adults with WS are prone to having overweight and obesity and also have decreased fat-free mass (FFM) on body composition analysis. To date, no explorations of factors associated with measured resting energy expenditure (mREE) or with the accuracy of predictive resting energy expenditure (pREE) equations have been performed. This study aimed to (1) obtain mREE in adults with WS and examine contributing factors; (2) compare mREE between adults with WS and matched controls; and (3) assess the accuracy of widely used pREE equations.</p> </section> <section> <h3> Methods</h3> <p>A convenience sample of 41 adults with WS (mean age = 31.5 ± 10.2 years, mean body mass index [BMI] = 28.6 ± 7.7 kg/m<sup>2</sup>) completed in-person mREE assessment at a clinical research centre using indirect calorimetry. Anthropometric measurements, plus FFM and fat mass (FM) on dual energy X-ray absorptiometry (DXA), were obtained.</p> <p>Twenty-four of these adults with WS were matched to controls, concurrent or historical, on age, sex, race/ethnicity and BMI. Differences between the two cohorts were examined with and without adjusting for age and FFM (unadjusted analyses using independent samples <i>t</i>-tests and adjusted analyses using ANCOVA).</p> <p>pREE was computed for the WS cohort using equations derived from several distinct adult populations, including some with adults ages 60 and older, and others with a high proportion of adults with overweight or obesity. Prediction accuracy at an individual and group level was examined for each equation.</p> </section> <section> <h3> Results</h3> <p>Within the WS cohort, mREE was significantly lower in females (1183.1 ± 186.6 kcal/day) than in males (1366.4 ± 217.8 kcal/day) and in individuals with a BMI < 30 kg/m<sup>2</sup> compared to a BMI ≥ 30 kg/m<sup>2</sup>; after adjusting for FFM, the sex-based difference in mREE persisted but with attenuated significance, while the difference between BMI categories no longer reached significance. WS participants had lower mREE than controls (males: 1310.0 ± 164.7 kcal/day vs. 1653.5 ± 406.7 kcal/day, respectively; females: 1163.1 ± 123.5 kcal/day vs. 1377.4 ± 401.5 kcal/day, respectively); after FFM adjustment, these differences were not statistically significant. Age was retained in all models even though it was not a significant predictor.</p> <p>Most predictive equations did not achieve ≥ 70% individual-level accuracy or a mean absolute percentage error ≤ 10%. The highest-performing pre
{"title":"Resting Energy Expenditure in Adults With Williams Syndrome: Comparative Accuracy of Predictive Equations","authors":"Danielle B. Renzi, Jamie Garry, Jane Hubbard, Marianne Nordstrøm, Kathleen V. Fitch, Takara L. Stanley, Barbara R. Pober","doi":"10.1111/jir.70073","DOIUrl":"10.1111/jir.70073","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Williams syndrome (WS) is a rare neurodevelopmental disorder caused by a microdeletion on chromosome 7q. Previous research indicates that adults with WS are prone to having overweight and obesity and also have decreased fat-free mass (FFM) on body composition analysis. To date, no explorations of factors associated with measured resting energy expenditure (mREE) or with the accuracy of predictive resting energy expenditure (pREE) equations have been performed. This study aimed to (1) obtain mREE in adults with WS and examine contributing factors; (2) compare mREE between adults with WS and matched controls; and (3) assess the accuracy of widely used pREE equations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A convenience sample of 41 adults with WS (mean age = 31.5 ± 10.2 years, mean body mass index [BMI] = 28.6 ± 7.7 kg/m<sup>2</sup>) completed in-person mREE assessment at a clinical research centre using indirect calorimetry. Anthropometric measurements, plus FFM and fat mass (FM) on dual energy X-ray absorptiometry (DXA), were obtained.</p>\u0000 \u0000 <p>Twenty-four of these adults with WS were matched to controls, concurrent or historical, on age, sex, race/ethnicity and BMI. Differences between the two cohorts were examined with and without adjusting for age and FFM (unadjusted analyses using independent samples <i>t</i>-tests and adjusted analyses using ANCOVA).</p>\u0000 \u0000 <p>pREE was computed for the WS cohort using equations derived from several distinct adult populations, including some with adults ages 60 and older, and others with a high proportion of adults with overweight or obesity. Prediction accuracy at an individual and group level was examined for each equation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Within the WS cohort, mREE was significantly lower in females (1183.1 ± 186.6 kcal/day) than in males (1366.4 ± 217.8 kcal/day) and in individuals with a BMI < 30 kg/m<sup>2</sup> compared to a BMI ≥ 30 kg/m<sup>2</sup>; after adjusting for FFM, the sex-based difference in mREE persisted but with attenuated significance, while the difference between BMI categories no longer reached significance. WS participants had lower mREE than controls (males: 1310.0 ± 164.7 kcal/day vs. 1653.5 ± 406.7 kcal/day, respectively; females: 1163.1 ± 123.5 kcal/day vs. 1377.4 ± 401.5 kcal/day, respectively); after FFM adjustment, these differences were not statistically significant. Age was retained in all models even though it was not a significant predictor.</p>\u0000 \u0000 <p>Most predictive equations did not achieve ≥ 70% individual-level accuracy or a mean absolute percentage error ≤ 10%. The highest-performing pre","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 3","pages":"316-328"},"PeriodicalIF":2.0,"publicationDate":"2025-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145781092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
{"title":"Age-Specific Diagnostic Panorama Among People With Intellectual Disabilities in Comparison With the General Population: A Longitudinal Register Study (IDcare)","authors":"Magnus Sandberg, Jimmie Kristensson, Anna Axmon","doi":"10.1111/jir.70072","DOIUrl":"10.1111/jir.70072","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Of all people living in Skåne, the southernmost part of Sweden (<i>n</i> = 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 (<i>n</i> = 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; <i>n</i> = 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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 3","pages":"295-315"},"PeriodicalIF":2.0,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12872377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145774683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Autistic adults describe difficulties accessing high-quality primary care services. Primary care practitioners (PCPs) report a lack of confidence and knowledge in working with autistic adults. The Extension for Community Healthcare Outcomes (ECHO) model is a longitudinal clinician education program that utilises a ‘hub and spoke’ model, community-building strategies and peer case-based learning to improve the care of patients with medical complexity.
Methods
The present study utilised the ECHO model (‘ECHO Autism Adult Healthcare’) to train PCPs in how to best care for autistic adults. We used a qualitative approach to examine the PCPs' subjective experiences of participating in the training. We used a qualitative descriptive framework to explore the experiences of 22 PCPs who completed the ECHO Autism Adult Healthcare program. Semi-structured Zoom interviews examined the support and education needs of PCPs and the benefits and challenges of the program. Three researchers worked collaboratively to code transcripts, testing inter-rater reliability to establish reliability and coding consistency.
Results
Four themes were identified: (1) the benefits of hearing from a wide range of perspectives, (2) establishing and supporting an interactive and engaging climate, (3) building a sense of community and (4) the meaningfulness and usability of resources and information. Overall, participants appreciated the multidisciplinary hub team members' expertise, especially those with lived experiences. Several participants enjoyed the ECHO format, as it encourages active discussion and engagement. PCPs indicated that they felt connected with the hub team and participants. They remarked on the usefulness of provided resources and their ability to implement them into clinical care.
Conclusion
These results can guide the development and implementation of future training programs. The ECHO model has the potential to become a best practice for delivering medical education. Broad implementation of the ECHO model shows significant benefits for PCPs and patients with medical complexity compared to more traditional forms of CME.
{"title":"The Power of ECHO Autism: Improving Confidence and Holistic Care for Autistic Adults","authors":"Nancy Cheak-Zamora, Jessica Smith, Mya Howard, Beth Malow, Kristin Sohl, Micah Mazurek","doi":"10.1111/jir.70069","DOIUrl":"10.1111/jir.70069","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Autistic adults describe difficulties accessing high-quality primary care services. Primary care practitioners (PCPs) report a lack of confidence and knowledge in working with autistic adults. The Extension for Community Healthcare Outcomes (ECHO) model is a longitudinal clinician education program that utilises a ‘hub and spoke’ model, community-building strategies and peer case-based learning to improve the care of patients with medical complexity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The present study utilised the ECHO model (‘ECHO Autism Adult Healthcare’) to train PCPs in how to best care for autistic adults. We used a qualitative approach to examine the PCPs' subjective experiences of participating in the training. We used a qualitative descriptive framework to explore the experiences of 22 PCPs who completed the ECHO Autism Adult Healthcare program. Semi-structured Zoom interviews examined the support and education needs of PCPs and the benefits and challenges of the program. Three researchers worked collaboratively to code transcripts, testing inter-rater reliability to establish reliability and coding consistency.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Four themes were identified: (1) the benefits of hearing from a wide range of perspectives, (2) establishing and supporting an interactive and engaging climate, (3) building a sense of community and (4) the meaningfulness and usability of resources and information. Overall, participants appreciated the multidisciplinary hub team members' expertise, especially those with lived experiences. Several participants enjoyed the ECHO format, as it encourages active discussion and engagement. PCPs indicated that they felt connected with the hub team and participants. They remarked on the usefulness of provided resources and their ability to implement them into clinical care.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These results can guide the development and implementation of future training programs. The ECHO model has the potential to become a best practice for delivering medical education. Broad implementation of the ECHO model shows significant benefits for PCPs and patients with medical complexity compared to more traditional forms of CME.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 3","pages":"274-286"},"PeriodicalIF":2.0,"publicationDate":"2025-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12872374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145723665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. M. A. de Bondt, T. I. M. Hilgenkamp, A. Oppewal
Background
Cardiorespiratory fitness is a crucial component for health. However, measuring cardiorespiratory fitness in older adults with intellectual disabilities (ID) in practice and in large-scale studies remains challenging. The Two-Minute Step Test (2MST) is a submaximal cardiorespiratory fitness test that is brief, relatively easy to perform, and does not require any expensive materials. However, the clinimetric properties of the 2MST for older adults with ID are unknown. Therefore, this study aimed to determine the feasibility, reliability and convergent validity of the 2MST in older adults with ID.
Method
This was a cross-sectional study within the ‘Healthy Ageing and Intellectual Disabilities’ (HA-ID) cohort study. Participants (n = 180, 70.6 [66–75] years) that participated in the physical fitness assessment were included in this study. Feasibility was defined as a successful completion according to protocol. Test–retest reliability was assessed over two measurements, on the same day, with the intraclass correlation coefficient (ICC). Convergent validity was assessed relative to other fitness components (static balance, muscular endurance, comfortable and fast gait speed), with Pearson's and Spearman's correlation coefficients.
Results
The 2MST showed moderate feasibility for the first (49.4%) and second (48.3%) measurement. Feasibility was good in participants with borderline, mild and moderate ID (57.1%–80%), but low in participants with severe (15.2%) and profound ID (7.7%). Test–retest reliability was excellent (ICC = 0.88). The 2MST had a moderate correlation with static balance (r = 0.46) and comfortable (r = 0.42) and fast (r = 0.51) gait speed, and a good correlation with muscular endurance (r = 0.63). Based on predefined criteria, all correlations were at least moderate (r > 0.30), supporting good convergent validity (categorised as good if three or more out of four correlations were at least moderate).
Conclusions
The 2MST is a feasible, reliable and valid test to use in older adults with ID. Feasibility was especially good in older adults with borderline to moderate ID; however, it was low in adults with more severe ID. The excellent test–retest reliability and good indications for convergent validity show this test is a suitable field test for cardiorespiratory fitness to use in older adults with ID.
{"title":"Feasibility, Test–Retest Reliability and Convergent Validity of the Two-Minute Step Test in Older Adults With Intellectual Disabilities","authors":"M. M. A. de Bondt, T. I. M. Hilgenkamp, A. Oppewal","doi":"10.1111/jir.70070","DOIUrl":"10.1111/jir.70070","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Cardiorespiratory fitness is a crucial component for health. However, measuring cardiorespiratory fitness in older adults with intellectual disabilities (ID) in practice and in large-scale studies remains challenging. The Two-Minute Step Test (2MST) is a submaximal cardiorespiratory fitness test that is brief, relatively easy to perform, and does not require any expensive materials. However, the clinimetric properties of the 2MST for older adults with ID are unknown. Therefore, this study aimed to determine the feasibility, reliability and convergent validity of the 2MST in older adults with ID.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>This was a cross-sectional study within the ‘Healthy Ageing and Intellectual Disabilities’ (HA-ID) cohort study. Participants (<i>n</i> = 180, 70.6 [66–75] years) that participated in the physical fitness assessment were included in this study. Feasibility was defined as a successful completion according to protocol. Test–retest reliability was assessed over two measurements, on the same day, with the intraclass correlation coefficient (ICC). Convergent validity was assessed relative to other fitness components (static balance, muscular endurance, comfortable and fast gait speed), with Pearson's and Spearman's correlation coefficients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The 2MST showed moderate feasibility for the first (49.4%) and second (48.3%) measurement. Feasibility was good in participants with borderline, mild and moderate ID (57.1%–80%), but low in participants with severe (15.2%) and profound ID (7.7%). Test–retest reliability was excellent (ICC = 0.88). The 2MST had a moderate correlation with static balance (r = 0.46) and comfortable (r = 0.42) and fast (r = 0.51) gait speed, and a good correlation with muscular endurance (r = 0.63). Based on predefined criteria, all correlations were at least moderate (r > 0.30), supporting good convergent validity (categorised as good if three or more out of four correlations were at least moderate).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The 2MST is a feasible, reliable and valid test to use in older adults with ID. Feasibility was especially good in older adults with borderline to moderate ID; however, it was low in adults with more severe ID. The excellent test–retest reliability and good indications for convergent validity show this test is a suitable field test for cardiorespiratory fitness to use in older adults with ID.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 3","pages":"287-294"},"PeriodicalIF":2.0,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12872370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145701186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Breanne Byiers, Alyssa Merbler, Elijah Lockhart, Chantel Burkitt, Frank Symons
Purpose
Actigraphy is being increasingly used to assess sleep and circadian rhythms among populations with intellectual and developmental disabilities and genetic syndromes, including Rett syndrome and related disorders, but the reliability of these measures in these populations is unclear. The primary purpose of the current study was to evaluate the impact of recording duration on the reliability of various measures of sleep and circadian rhythm in Rett and related syndromes.
Method
Two 14-day recordings were collected between 4 and 12 weeks apart in a sample of 30 individuals (aged 2–36 years; 97% female). Reliability was estimated by calculating statistics based on 3, 5, 7, 10 or 13–14 nights of recording.
Results
Most measures of average sleep quality could be reliably estimated with 7–10 nights. Measures of night-to-night variability in sleep timing showed poor reliability at all recording durations, whereas night-to-night variability in sleep duration showed adequate reliability at 5–7 days of recording. The reliability of measures of circadian rhythm was highly variable.
Conclusions
The results suggest that the optimal recording durations for actigraphy in this population vary based on the specific metrics of interest, but most can be measured reliably.
{"title":"Reliability of Actigraphy for the Assessment of Sleep and Circadian Rhythms in Rett and Related Syndromes","authors":"Breanne Byiers, Alyssa Merbler, Elijah Lockhart, Chantel Burkitt, Frank Symons","doi":"10.1111/jir.70068","DOIUrl":"10.1111/jir.70068","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>Actigraphy is being increasingly used to assess sleep and circadian rhythms among populations with intellectual and developmental disabilities and genetic syndromes, including Rett syndrome and related disorders, but the reliability of these measures in these populations is unclear. The primary purpose of the current study was to evaluate the impact of recording duration on the reliability of various measures of sleep and circadian rhythm in Rett and related syndromes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Two 14-day recordings were collected between 4 and 12 weeks apart in a sample of 30 individuals (aged 2–36 years; 97% female). Reliability was estimated by calculating statistics based on 3, 5, 7, 10 or 13–14 nights of recording.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Most measures of average sleep quality could be reliably estimated with 7–10 nights. Measures of night-to-night variability in sleep timing showed poor reliability at all recording durations, whereas night-to-night variability in sleep duration showed adequate reliability at 5–7 days of recording. The reliability of measures of circadian rhythm was highly variable.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The results suggest that the optimal recording durations for actigraphy in this population vary based on the specific metrics of interest, but most can be measured reliably.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 3","pages":"262-273"},"PeriodicalIF":2.0,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12872378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145668733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Assessing communication in individuals with intellectual disabilities is essential yet challenging because of the complexity of the construct and limited availability of psychometrically robust tools. This review aimed to evaluate the validity and reliability of communication questionnaires used with this population.
Method: A systematic review was conducted following PRISMA 2020 guidelines and COSMIN definitions for validity and reliability. Five databases (Cinahl, Embase, Eric, PsycINFO and PubMed) were searched for studies published from 2000 to 2024. Inclusion criteria required questionnaires to assess communication in individuals with intellectual disabilities and report on validity or reliability. Methodological quality was appraised using the QualSyst tool.
Results: Six questionnaires described in five studies and three manuals met the inclusion criteria. Validity evidence was more frequently reported than reliability, though both were inconsistently documented. No questionnaire demonstrated a comprehensive evaluation of validity or reliability. Content validity was often limited by a lack of stakeholder involvement.
Conclusions: Current questionnaires show promise but require further validation. Future research should prioritise stakeholder engagement, content and structural validity to ensure an inclusive, reliable communication assessment. Prospero Id: CRD42023413902.
{"title":"Reliability and Validity of Questionnaires to Assess Communication Skills in People With Intellectual Disabilities: A Systematic Review.","authors":"Catriona Windsor, Kari-Anne Bottegård Næss, Melanie Kirmess, Stijn Deckers, Natalie Ballentine, Sangwon Yoon, Renée Speyer","doi":"10.1111/jir.70063","DOIUrl":"https://doi.org/10.1111/jir.70063","url":null,"abstract":"<p><strong>Background: </strong>Assessing communication in individuals with intellectual disabilities is essential yet challenging because of the complexity of the construct and limited availability of psychometrically robust tools. This review aimed to evaluate the validity and reliability of communication questionnaires used with this population.</p><p><strong>Method: </strong>A systematic review was conducted following PRISMA 2020 guidelines and COSMIN definitions for validity and reliability. Five databases (Cinahl, Embase, Eric, PsycINFO and PubMed) were searched for studies published from 2000 to 2024. Inclusion criteria required questionnaires to assess communication in individuals with intellectual disabilities and report on validity or reliability. Methodological quality was appraised using the QualSyst tool.</p><p><strong>Results: </strong>Six questionnaires described in five studies and three manuals met the inclusion criteria. Validity evidence was more frequently reported than reliability, though both were inconsistently documented. No questionnaire demonstrated a comprehensive evaluation of validity or reliability. Content validity was often limited by a lack of stakeholder involvement.</p><p><strong>Conclusions: </strong>Current questionnaires show promise but require further validation. Future research should prioritise stakeholder engagement, content and structural validity to ensure an inclusive, reliable communication assessment. Prospero Id: CRD42023413902.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145654236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Manami Koizumi, Waka Kobayashi, Shuhei Ogawa, Michio Kojima
Background
Children with intellectual disability (ID) have significantly delayed morphological and syntactic development. This study aimed to establish the link between vocabulary and syntactic development in children with autism spectrum disorder (ASD) and Down syndrome (DS) compared with children with typical development (TD), controlling for mental age (MA) as defined by the Tanaka–Binet Intelligence Scale V.
Methods
Participants comprised children with ID (N = 33), including 14 with ASD and 19 with DS; chronological age (CA) ranged from 9 to 17 years, with an MA of over 4 years. Children with TD (N = 28) had a CA of 5 years. Participants were assessed on vocabulary comprehension, vocabulary expression, syntactic comprehension and syntactic expression. We examined both group differences and within-group associations between vocabulary and syntax.
Results
Although we witnessed no significant differences in vocabulary comprehension or expression, children with ASD and DS performed significantly lower on syntactic comprehension and expression tasks than MA-matched children with TD. Both groups demonstrated difficulty with grammatical items requiring understanding of grammatical morphemes and grammatical knowledge.
Conclusion
Both groups exhibited vocabulary development similar to that of children with TD; however, their syntactic development was lower than expected considering their MA and vocabulary development. Building and examining approaches focusing on syntax, particularly grammatical morphology, is important in educational and clinical practice for Japanese children with ASD and DS.
{"title":"Vocabulary and Syntactic Development in Japanese Children With Autism Spectrum Disorder and Down Syndrome Accompanied by Intellectual Disability","authors":"Manami Koizumi, Waka Kobayashi, Shuhei Ogawa, Michio Kojima","doi":"10.1111/jir.70062","DOIUrl":"10.1111/jir.70062","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Children with intellectual disability (ID) have significantly delayed morphological and syntactic development. This study aimed to establish the link between vocabulary and syntactic development in children with autism spectrum disorder (ASD) and Down syndrome (DS) compared with children with typical development (TD), controlling for mental age (MA) as defined by the Tanaka–Binet Intelligence Scale V.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Participants comprised children with ID (<i>N</i> = 33), including 14 with ASD and 19 with DS; chronological age (CA) ranged from 9 to 17 years, with an MA of over 4 years. Children with TD (<i>N</i> = 28) had a CA of 5 years. Participants were assessed on vocabulary comprehension, vocabulary expression, syntactic comprehension and syntactic expression. We examined both group differences and within-group associations between vocabulary and syntax.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Although we witnessed no significant differences in vocabulary comprehension or expression, children with ASD and DS performed significantly lower on syntactic comprehension and expression tasks than MA-matched children with TD. Both groups demonstrated difficulty with grammatical items requiring understanding of grammatical morphemes and grammatical knowledge.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Both groups exhibited vocabulary development similar to that of children with TD; however, their syntactic development was lower than expected considering their MA and vocabulary development. Building and examining approaches focusing on syntax, particularly grammatical morphology, is important in educational and clinical practice for Japanese children with ASD and DS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 2","pages":"171-179"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145654271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Intellectual disability (ID) and schizophrenia are known to separately carry a high risk of comorbidity of mental health and physical conditions. However, the prevalence and risk of comorbidities among people diagnosed with concurrent ID and schizophrenia have to date not been studied.
Methods
From a cohort including all people in Skåne, Sweden, the following three groups were established: (1) people with ID and concurrent schizophrenia, (2) people with ID without schizophrenia and (3) people with schizophrenia without ID. Diagnoses were determined using the Region Skåne healthcare database. Poisson regression was used to estimate relative risks (RRs) with 95% confidence intervals (CIs) of having at least one diagnosis in each ICD-10 chapter or block for group 1 versus groups 2 and 3, respectively. All analyses were adjusted for age at inclusion (i.e., 2014, continuous variable), sex and ethnicity.
Results
For several diagnostic chapters, there were higher risks among people with ID and schizophrenia, compared to both those with ID without schizophrenia and those with schizophrenia but without ID. These chapters included the following: I (parasites), III (blood and immunity), IV (endocrine), VII (eye), XII (skin and tissue) and XIV (genitourinary). The blocks with the highest risks compared to the other two groups were diabetes mellitus, disorders of other endocrine glands, obesity and other hyperalimentation, organic—including symptomatic and mental health conditions, extrapyramidal and movement and other respiratory diseases principally affecting the interstitium.
Conclusions
People with the combination of ID and schizophrenia had an increased risk of both physical and mental health conditions that could not be explained by either ID or schizophrenia alone. A correct diagnosis for people with the combination of ID and schizophrenia is important for the provision of adequate treatment. Future research should investigate pathways and explanatory factors, as well as the provision of services for people with ID and schizophrenia.
{"title":"Comorbidities in People With Intellectual Disability With and Without Schizophrenia and Schizophrenia Without Intellectual Disability: A Swedish Register Study (IDcare)","authors":"Trine Lise Bakken, Anna Axmon, Magnus Sandberg","doi":"10.1111/jir.70067","DOIUrl":"10.1111/jir.70067","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Intellectual disability (ID) and schizophrenia are known to separately carry a high risk of comorbidity of mental health and physical conditions. However, the prevalence and risk of comorbidities among people diagnosed with concurrent ID and schizophrenia have to date not been studied.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>From a cohort including all people in Skåne, Sweden, the following three groups were established: (1) people with ID and concurrent schizophrenia, (2) people with ID without schizophrenia and (3) people with schizophrenia without ID. Diagnoses were determined using the Region Skåne healthcare database. Poisson regression was used to estimate relative risks (RRs) with 95% confidence intervals (CIs) of having at least one diagnosis in each ICD-10 chapter or block for group 1 versus groups 2 and 3, respectively. All analyses were adjusted for age at inclusion (i.e., 2014, continuous variable), sex and ethnicity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>For several diagnostic chapters, there were higher risks among people with ID and schizophrenia, compared to both those with ID without schizophrenia and those with schizophrenia but without ID. These chapters included the following: I (parasites), III (blood and immunity), IV (endocrine), VII (eye), XII (skin and tissue) and XIV (genitourinary). The blocks with the highest risks compared to the other two groups were diabetes mellitus, disorders of other endocrine glands, obesity and other hyperalimentation, organic—including symptomatic and mental health conditions, extrapyramidal and movement and other respiratory diseases principally affecting the interstitium.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>People with the combination of ID and schizophrenia had an increased risk of both physical and mental health conditions that could not be explained by either ID or schizophrenia alone. A correct diagnosis for people with the combination of ID and schizophrenia is important for the provision of adequate treatment. Future research should investigate pathways and explanatory factors, as well as the provision of services for people with ID and schizophrenia.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 2","pages":"206-217"},"PeriodicalIF":2.0,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70067","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145648568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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