Journal of Intellectual Disability Research最新文献

{"title":"Impact of Obesity on Hypoxemia During Deep Dental Sedation for Paediatric and Adult Patients With Intellectual Disabilities: CT90 as an Outcome","authors":"Aki Kawauchi,&nbsp;Shigeru Maeda,&nbsp;Yasushi Nagao,&nbsp;Hidenori Kubo,&nbsp;Miki Yokoyama,&nbsp;Yasunori Sato,&nbsp;Shiroh Isono","doi":"10.1111/jir.13232","DOIUrl":"10.1111/jir.13232","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Using cumulative time spent with SpO₂ &lt; 90% (CT90) as an indicator, this retrospective observational study aimed to assess the incidence and severity of hypoxemia during deep intravenous sedation for patients with intellectual disabilities. Additionally, it intended to identify patient characteristics and anaesthesia-related factors independently associated with CT90.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Study Design</h3>\u0000 \u0000 <p>The pulse oximetry data were collected every 5 s during intravenous dental sedation in 144 patients with intellectual disabilities. Hypoxemia and severe hypoxemia were defined as SpO₂ &lt; 90% and CT90 &gt; 1%, respectively. Multiple linear regression analysis was performed to identify independent risk indicators associated with the occurrence of hypoxemia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>More than one episode of hypoxemia occurred in 62% (89/144) of patients. CT90 was 1.9 ± 4.8% during sedation and severe hypoxemia developed in 35% (50/144) of patients. BMI was a significant independent patient risk indicator for severe hypoxemia but accounted for only 28% of the variability in its incidence. Notably, the use of a BIS monitor, an appropriate dose of propofol and an extra suctioning device were identified as independent factors that could improve SpO₂ level.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Severe hypoxemia frequently occurred during intravenous sedation, particularly in obese patients with intellectual disabilities. Technical and pharmacological improvements of sedation strategies are essential.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 6","pages":"510-517"},"PeriodicalIF":2.1,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663386","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}

{"title":"Predictive Validity of the Brøset Violence Checklist in a Secured Institution for Offenders With Intellectual Disabilities","authors":"Jacob Hvidhjelm,&nbsp;Søren Holst","doi":"10.1111/jir.13233","DOIUrl":"10.1111/jir.13233","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The integration of systematic risk assessments into care settings for offenders with intellectual disabilities (IDs) is a growing priority, yet evidence on the validity of existing tools in this population remains limited. The Brøset Violence Checklist (BVC) is widely used to assess short-term violence risk, but its predictive accuracy in individuals with IDs remains uncertain. This study investigates the predictive validity of the BVC in a specialized institutional context for offenders with IDs, focusing on its performance across different shifts and demographic subgroups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>A retrospective observational design was used to analyse 153 262 BVC assessments and 1325 documented severe violent incidents over 2.5 years in a secured Danish institution for offenders with IDs. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated across different BVC thresholds. Generalized linear mixed models (GLMMs) were applied to assess the influence of sex and time of day on predictive performance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The BVC demonstrated high specificity and NPV across all shifts, confirming its utility in identifying low-risk scenarios. However, sensitivity and PPV were limited, particularly during night shifts and at higher score thresholds. Predictive accuracy was highest during evening shifts, aligning with periods of increased staff–resident interactions. GLMM analyses indicated that the relationship between BVC scores and violence risk was moderated by sex and time of day, with female residents and low-activity periods presenting unique challenges to prediction.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The findings underscore the need for population-specific adaptations to the BVC, particularly to address contextual and demographic factors influencing aggression in ID populations. Recommendations include supplemental assessment strategies for low-activity shifts, sex-specific behavioural indicators and the development of tailored tools for ID care settings. This study advances the understanding of violence risk dynamics in ID populations and informs interventions to enhance safety for residents and staff.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 6","pages":"518-526"},"PeriodicalIF":2.1,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13233","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670076","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}

{"title":"Prospective Characterisation of Age-Related Changes in Self-Injurious Behaviour in a Sample of Children With Global Developmental Delay Aged 2–12 Years","authors":"Breanne J. Byiers,&nbsp;Jaclyn Gunderson,&nbsp;Andrea Huebner,&nbsp;Frank J. Symons","doi":"10.1111/jir.13228","DOIUrl":"10.1111/jir.13228","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Self-injurious behaviour (SIB) is a common problem among individuals with intellectual and developmental disabilities (IDDs) with important impacts on quality of life. Although some evidence suggests that SIB may increase with age, perhaps in a curvilinear pattern, this is primarily based on cross-sectional studies. Therefore, the purpose of the current study was to conduct a prospective, longitudinal analysis of age-related changes in a high-risk cohort of children with developmental disabilities/delays.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 110 participants, between 2 and 12 years of age at enrolment (70% male), were followed for between 2 and 4 years. Caregivers completed the RBS-EC SIB subscale annually, for a total of 317 assessments. The SIB total score, SIB interference ratings and endorsement of specific topographies were selected as dependent measures. Generalised linear models evaluating linear, quadratic and cubic age-related changes and differences by intellectual disability (ID) status (no or mild ID vs. moderate to profound ID) were created for each outcome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>For SIB total scores, the model suggested complex developmental patterns that varied by degree of ID. For SIB interference ratings, the model suggested that individuals with moderate to profound ID showed relatively high and stable levels of SIB interference across ages, whereas individuals with no or mild ID showed an increasing trend with age. Patterns varied across the specific SIB topographies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>The results suggest that age-related changes in SIB are complex and may vary across topographies. Overall, the results are concerning in that they indicate a potentially increasing trend in frequency of SIB and its impact on daily activities as individuals approach adolescence, indicating the need for further longitudinal work across the lifespan.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 6","pages":"465-479"},"PeriodicalIF":2.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13228","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657439","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}

{"title":"Psychometric Properties of the Nine-Item Personal Health Questionnaire (PHQ-9) Seven-Item Generalised Anxiety Disorder Scale (GAD-7), and the Work and Social Adjustment Scale (WSAS) With People With Intellectual Disabilities","authors":"Dave Dagnan,&nbsp;Rob Saunders,&nbsp;Joshua Stott,&nbsp;Richard Thwaites,&nbsp;Chris Hatton","doi":"10.1111/jir.13231","DOIUrl":"10.1111/jir.13231","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The nine-item Physical Health Questionnaire (PHQ-9), the seven-item Generalised Anxiety Disorder scale (GAD-7) and the Work and Social Adjustment Scale (WSAS) are, respectively, self-report measures of depression, generalised anxiety, and the impact of mental health on the person's personal functioning that are widely used in mainstream mental health services in England. The psychometric properties of these scales when used with people with intellectual disabilities have not been established.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Item level data for the PHQ-9 (<i>n</i> = 128), GAD-7 (<i>n</i> = 124) and WSAS (<i>n</i> = 133) for people with intellectual disabilities in an English NHS Talking Therapies for anxiety and depression (NHSTT) service in the north of England were analysed using internal reliability statistics and confirmatory factor analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In this study, the full PHQ-9, GAD-7 and WSAS have Cronbach's <i>α</i> of 0.81, 0.84 and 0.81, respectively, and have acceptable ranges of corrected item-total correlations. The two-factor structures for the PHQ-9 and the GAD-7 were a better fit than single-factor structures, although the single-factor fit and the correlation between the two factors within each scale suggest that their use as a single scale is justified. The single-factor structure for the WSAS was a good fit.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In this study, the widely used PHQ-9, GAD-7 and WSAS demonstrate internal consistency values and factor analysis structure similar to those for individuals without intellectual disabilities. The data support the use of these measures for people with intellectual disabilities attending routine primary care mental health services.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 6","pages":"502-509"},"PeriodicalIF":2.1,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13231","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648794","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}

{"title":"Views and Experiences of Dementia in People With Intellectual Disabilities: A Systematic Review of Qualitative Research","authors":"Joanna Carter,&nbsp;Aimee Spector,&nbsp;Afia Ali,&nbsp;Amelia McFeeters,&nbsp;Sarah Butt,&nbsp;Georgina Charlesworth","doi":"10.1111/jir.13227","DOIUrl":"10.1111/jir.13227","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>It is important to hear the perspectives of people with intellectual disabilities on dementia. This review aimed to explore views and experiences of dementia from the perspective of people with intellectual disabilities and methodologies enabling people with intellectual disabilities and dementia to participate in qualitative research.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Studies were identified in database searches, along with reference and citation searches. Qualitative data were reviewed using thematic synthesis and risk of bias assessed using the Critical Appraisal Skills Programme (2018). Methodologies used to include participants with intellectual disabilities and dementia were reviewed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Findings from 11 studies, with a total of 47 participants, highlighted loss of ability, relationships and connection associated with dementia, counteracted by support from others, and maintenance of a sense of self through choice, relational connection and competence. A range of methodologies were identified to enable participants with intellectual disabilities and dementia to participate in research.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This review highlights emerging, albeit demographically limited, qualitative research in this field. It suggests ways to build on this including methodologies to facilitate inclusion of people with intellectual disabilities and dementia in further research.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 7","pages":"533-545"},"PeriodicalIF":2.1,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13227","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639448","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}

{"title":"‘Mind the Gap’—A Survey on Care Gaps and Priorities for the Transition to Adult Healthcare According to Caregivers of Young People With Rare Conditions Associated With Intellectual Disability","authors":"Mirthe J. Klein Haneveld,&nbsp;Klea Vyshka,&nbsp;Charlotte M. W. Gaasterland,&nbsp;Tomasz Grybek,&nbsp;Katarzyna Świeczkowska,&nbsp;ERN-ITHACA Transition of Care guideline consortium,&nbsp;AnneLoes Van Staa,&nbsp;Agnies M. Van Eeghen","doi":"10.1111/jir.13229","DOIUrl":"10.1111/jir.13229","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>For young people with rare conditions associated with intellectual disability, the transfer from paediatric to adult healthcare providers is often complicated. European Reference Network ERN-ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) on Rare Congenital Malformations and Rare Intellectual Disability aims to develop a clinical practice guideline to improve this transition. The aim of this study was to identify which aspects of the transition to adult care matter most and to describe the current care gap as experienced by European caregivers to inform the guideline scope.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An international web-based survey was conducted by ERN-ITHACA in January–February 2023. Priorities for a good transition process and current care gaps in Europe were identified using the ‘Mind the Gap’ scale. The surveys were created in plain and easy-to-read language and available in nine European languages.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>One hundred fifty-seven caregivers from 15 European countries completed the survey, representing over 40 conditions, including the Phelan–McDermid, Rubinstein–Taybi, 22q11.2 deletion and Kleefstra syndromes. Care gaps were identified, particularly related to process issues such as the preparation for and adaptation to adult healthcare, supporting independence and planning for the future. Items considered essential for optimal healthcare were related to individualised approaches, information provision and coordination of care.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Coordinated, specialised, individualised and multidisciplinary care is required to support youth with rare conditions and intellectual disability in the transitional age. Supporting young people's independence, orchestrating multidisciplinary care and ensuring effective communication are particularly challenging in the transition to adult healthcare for this population.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 6","pages":"480-488"},"PeriodicalIF":2.1,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13229","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624774","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}

{"title":"Factors Associated With Alzheimer's Dementia Diagnosis and Survival in Down Syndrome","authors":"Olivia Pounds,&nbsp;Kate Theodore,&nbsp;Karen Dodd","doi":"10.1111/jir.13230","DOIUrl":"10.1111/jir.13230","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>People with Down syndrome (DS) have an increased risk for Alzheimer's disease (<span>AD</span>). Identifying factors associated with dementia onset and subsequent survival will support in understanding the disease profile, improving timely diagnosis, management, and care planning.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Variables associated with age at dementia onset and survival times were assessed in 279 adults with DS who accessed a community learning disability service. After outliers were removed, regression and hazard regression models were used for disease onset (<i>n</i> = 265) and survival times (<i>n</i> = 180), respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Earlier age at first assessment and living with family predicted earlier age at diagnosis, which led to longer survival, post-diagnosis. Epilepsy and living in a long-stay hospital were associated with earlier mortality.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Implications for clinical practice include reflections on the importance of early baseline assessments and caregiver awareness. Suggestions for future research include investigating intersectionality of social factors with genetics to better understand <span>AD</span> trajectories.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 6","pages":"489-501"},"PeriodicalIF":2.1,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13230","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143615593","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}

{"title":"Using National Survey Data to Estimate Healthcare Communication Disparities for Adults With Intellectual and Developmental Disabilities.","authors":"Jamie Koenig, Lauren Bishop","doi":"10.1111/jir.13224","DOIUrl":"https://doi.org/10.1111/jir.13224","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have identified considerable health outcome disparities for adults with intellectual and developmental disabilities (IDD) as well as poor or ineffective communication between adults with IDD and their medical providers.</p><p><strong>Methods: </strong>Using National Health Interview Survey (NHIS) data, this paper uses logistic regression to estimate disparities in healthcare communication and satisfaction between adults with IDD, adults with non-IDD disabilities, and adults with no reported disabilities, controlling for sociodemographic characteristics. Communication quality is measured with survey questions about whether medical providers are respectful, ask for patients' opinions, and offer understandable medical information.</p><p><strong>Results: </strong>We identified sizeable disparities in communication quality and satisfaction between adults with non-IDD disabilities and no reported disabilities. Adults with IDD experienced significantly lower odds of receiving understandable information compared to adults with no reported disabilities. There are suggestive evidence that adults with IDD have lower odds of being satisfied with healthcare, having their opinion asked, and feeling respected.</p><p><strong>Conclusions: </strong>There are healthcare communication and satisfaction disparities between adults with and without IDD or other disabilities. Future research should characterise the size and exact nature of these disparities in communication quality and satisfaction for those with IDD. These findings can inform interventions and trainings to improve communication quality and satisfaction for those with all forms of disability.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605184","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}

{"title":"Understanding Music Participation for Adults With Down Syndrome","authors":"Jennie L. Dorris,&nbsp;Juleen Rodakowski,&nbsp;Angela Caldwell","doi":"10.1111/jir.13226","DOIUrl":"10.1111/jir.13226","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Adults with Down syndrome are living longer and have high risk of experiencing Alzheimer's disease as they age. With few services available, music is a promising modality that has been shown to support cognitive functioning. This study reported on the frequency of music participation for adults with Down syndrome and explored associations of age, race and level of intellectual disability with music participation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The research team administered a survey to care partners of adults with Down syndrome (<i>n</i> = 27) that measured music participation in terms of ‘listening’ and ‘playing’ using the Guernsey Community Participation and Leisure Assessment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>44.4% of care partners reported providing over 50 h of care a week. 92.6% of adults with Down syndrome listened to music, and 33.3% played music either weekly or daily. 74.1% of care partners reported that adults with Down syndrome could listen to music unaccompanied, and 48.2% of care partners reported that adults with Down syndrome could play music unaccompanied. A statistically significant association was found between race and playing music.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Knowing that multiracial adults with Down syndrome had a higher frequency in playing music, a potent future research direction is better understanding the musical needs and preferences of these diverse adults. Broadly, those developing services and supports could consider utilizing music as a meaningful activity that does not add care partner burden.</p>\u0000 \u0000 <p><b>Trial Registration:</b> University of Pittsburgh's Institutional Review Board: 22080146</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 6","pages":"527-532"},"PeriodicalIF":2.1,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13226","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597020","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}

{"title":"Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016–2022","authors":"Callum Richard Thomas Kidson,&nbsp;Ne-Ron Loh,&nbsp;Yasir Ahmed Syed","doi":"10.1111/jir.13225","DOIUrl":"10.1111/jir.13225","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Tuberous sclerosis complex (TSC) is a genetic condition caused by mutations in either <i>TSC1</i> or <i>TSC2</i> genes, affecting around two million people globally. This study aims to examine causes of death in TSC and explore factors contributing to mortality in people with TSC in the United Kingdom in recent years following updated management and surveillance guidelines for the condition.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Comprehensive analysis of the available medical records of the people seen at the largest lifespan TSC clinic in the United Kingdom who passed away between 2016 and 2022 was conducted. Disease-related factors were identified, and the cause of death was determined. Where mortality cause was unobtainable, information was sought from the person's general practitioner, or their death certificate was obtained from the General Registry Office. Subsequently, the cohort was divided into subgroups to investigate potential risk factors for premature mortality. Our results were compared to that of previous TSC mortality studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study consisted of 19 deaths. Nine deaths were unequivocally attributed to TSC. These fatalities were due to epilepsy (<i>n</i> = 3/19), aspiration pneumonia (<i>n</i> = 3/19), SEGA (<i>n</i> = 1/19), hepatic AML (<i>n</i> = 1/19) and pNET (<i>n</i> = 1/19). Other causes included malignant cancer (<i>n</i> = 6/19), sepsis (<i>n</i> = 2/19), COVID-19 (<i>n</i> = 1/19) and stroke (<i>n</i> = 1/19). Renal failure was a secondary cause in two deaths.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Compared to limited previous mortality studies, this cohort appears to be less affected by SUDEP. This group is also more greatly affected by cancer and presents a potential link between early mortality and renal AML size. Moreover, a clearer role of intellectual disability in mortality of people with TSC may have been identified. Most causes of mortality in this TSC cohort are potentially prevented with suitable interventions earlier.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 6","pages":"457-464"},"PeriodicalIF":2.1,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13225","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596951","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}