Journal of Intellectual Disability Research最新文献

{"title":"The Impact of an Interactive Art Session on Resident Physicians' Views Towards Treating Adults With Intellectual and Developmental Disabilities: A Qualitative Analysis.","authors":"Jessica Solomon Sanders, Elizabeth Paschal, Brooke Dorsey","doi":"10.1111/jir.70135","DOIUrl":"10.1111/jir.70135","url":null,"abstract":"<p><strong>Background: </strong>Many physicians feel uncomfortable caring for patients with intellectual and developmental disabilities (IDD). This discomfort can be a barrier to individuals with IDD accessing age-appropriate and high-quality health care. One well-established strategy for improving comfort with individuals with IDD is based on contact theory: increasing interactions with dissimilar people can lead to decreased negative attitudes towards that population. Drawing on contact theory, we implemented interactive art sessions with medical residents and artists with IDD. The purpose of this study was to explore the impact of these sessions on residents' comfort treating patients with IDD.</p><p><strong>Methods: </strong>Semistructured interviews were conducted with residents who participated in the interactive art sessions, and a qualitative thematic analysis was conducted.</p><p><strong>Results: </strong>Interviews yielded the following four themes: (1) additional exposure to people with IDD helped increase participants' comfort caring for patients with IDD; (2) art sessions helped participants learn how to navigate challenges related to clinical interviewing, assessment, and patient communication; (3) the format of the art sessions created an environment that facilitated connection; and (4) participants were able to acknowledge biases.</p><p><strong>Conclusions: </strong>Utilizing contact theory led to a successful program where resident physicians gained the opportunity to engage with adults with IDD in a unique way, allowing them to gain experience communicating with this population and see them as dynamic individuals rather than solely patients. This led to increased comfort treating patients with IDD.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13460630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148412139","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":"Design and Development of ‘Building Opportunities for Optimal physical activity Skills Training in children with Down Syndrome (BOOST-DS)’ Programme and its Content Validation through Consensus using Modified Delphi method","authors":"V. Megha Jain,&nbsp;Bhamini K. Rao,&nbsp;Selvam Ramachandran,&nbsp;Delphi Expert Panel","doi":"10.1111/jir.70119","DOIUrl":"10.1111/jir.70119","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Children with Down syndrome (DS) often do not meet daily physical activity requirements, which affects their participation in daily activities and overall quality of life. Structured physical activity programmes could address these issues, but accessible, participation-based activities are limited.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>The Building Opportunities for Optimal physical activity Skills Training in children with Down Syndrome (BOOST-DS) programme was designed, developed and content validated in three phases. A conceptual framework was developed from the relevant literature, followed by the identification physical activity components through brainstorming and discussions. The final content validation phase involved expert consensus using a modified Delphi method.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The BOOST-DS identified 62 active play items across six domains of physical activity. After three Delphi rounds, 53 items achieved expert agreement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The content-validated BOOST-DS programme includes 53 play-based activities across six physical activity domains to enhance participation outcomes in children with DS.</p>\u0000 \u0000 <p><b>Trial Registration:</b> The study was registered in the Clinical Trial Registry of India: CTRI/2023/08/056291 on 5 August 2023</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 8","pages":"811-822"},"PeriodicalIF":2.4,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70119","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148005445","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":"Balancing in Virtual Reality: Motor Learning and Functional Improvement in Down Syndrome","authors":"Evelyn Ardai,&nbsp;Tibor Vámos,&nbsp;Gabriella Papp,&nbsp;Andrea Berencsi","doi":"10.1111/jir.70124","DOIUrl":"10.1111/jir.70124","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Motor learning in individuals with Down syndrome (DS) may be influenced by syndrome-specific motor and cognitive characteristics. Virtual reality (VR) systems are becoming increasingly popular and offer a valuable opportunity to study motor learning. To date, only a few studies have examined motor learning to improve balance in DS. This study aimed to investigate motor learning and functional motor performance in young adults with DS during VR-based training.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Participants with DS (<i>n</i> = 31) and typical development (TD = 28) between 18 and 30 years of age took part in the study. Participants were randomly allocated into training (DS Wii and TD Wii) and control (DS C and TD C) groups. Training groups participated in a 4-week-long balance training with two Nintendo Wii balance games, whereas their performance was monitored. All participants underwent pre- and posttraining assessment of functional motor performance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>During the VR training, the DS Wii and TD Wii groups' game scores show significant performance improvements in both games. Learning curves showed great individual differences, especially in DS. Although TD groups outperformed DS groups in the functional motor tests, DS Wii group's pre- and post-training results indicated a significant improvement in functional motor performance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These findings demonstrate that individuals with DS are able to learn in a VR environment and successfully transfer the acquired skills to functional abilities. TD individuals also improved their functional performance or reached a plateau. We conclude that VR is an effective system for engaging DS individuals in motor training for improving balance skills.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 8","pages":"858-870"},"PeriodicalIF":2.4,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70124","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148015977","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":"Developmental Profile and Variability in Preschool-Age Children With Down Syndrome","authors":"Sara Onnivello,&nbsp;Giuseppe Ramacieri,&nbsp;Elisa Rossi,&nbsp;Maria Chiara Pelleri,&nbsp;Francesca Antonaros,&nbsp;Sara Colaianni,&nbsp;Chiara Marcolin,&nbsp;Francesca Pulina,&nbsp;Beatrice Vione,&nbsp;Francesca Catapano,&nbsp;Enrico Toffalini,&nbsp;Chiara Locatelli,&nbsp;Pierluigi Strippoli,&nbsp;Silvia Lanfranchi","doi":"10.1111/jir.70126","DOIUrl":"10.1111/jir.70126","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The developmental and cognitive profile of Down syndrome (DS) has been studied across various age groups, but we have still a limited understanding of the preschool-age range, including the domains that show the greatest variability at this age. Our study aims to (1) define the developmental profile in preschool-age children with DS and (2) explore variability within domains of functioning.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>We assessed 43 preschool-aged children with DS (38–76 months) using the Griffiths-III scales. This tool assesses development across five scales: Foundations of Learning, Language and Communication, Eye and Hand Coordination, Personal–Social–Emotional and Gross Motor Skills. We employed multivariate linear models for analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The analyses revealed a peaks-and-valleys profile, with higher scores in the Personal–Social–Emotional and Gross Motor domains compared to the Foundations of Learning, Language and Communication and Eye and Hand Coordination scales. Notably, high interindividual variability was observed in the Language and Communication and Personal–Social–Emotional domains.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings identify strengths and weaknesses in specific domains within the preschool-aged range and show higher variability in the verbal and personal–social–emotional domains. All this information offers valuable insights for early intervention planning, supporting parents, caregivers, and stakeholders in promoting optimal development in children with DS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 8","pages":"881-886"},"PeriodicalIF":2.4,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70126","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148143597","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":"Barriers to Ophthalmologic Care Reported by Family Caregivers of Users and Non-Users With Intellectual Disabilities","authors":"Chiun-Ho Hou,&nbsp;Yueh-Ching Chou,&nbsp;Shu-Fang Shih,&nbsp;Christy Pu","doi":"10.1111/jir.70123","DOIUrl":"10.1111/jir.70123","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;People with intellectual disabilities (IDs) are more likely to experience vision-related impairments, yet they face many barriers to accessing eye care. Although previous studies have described these barriers, few have compared barriers reported by families who have and have not accessed ophthalmologic care, which may provide insight into barriers interpreted as anticipated or experienced.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The study objectives are to compare barriers to ophthalmologic care reported by family caregivers of users and non-users and to interpret these differences as anticipated or experienced barriers.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;A cross-sectional survey was conducted with 657 primary family caregivers in Taichung City and Hualien County, Taiwan, between August and October 2023. Caregivers selected from a list of 13 predefined barriers. Participants were classified as ‘users’ (&lt;i&gt;n&lt;/i&gt; = 261) if they had taken their family member with IDs for an eye examination and ‘non-users’ (&lt;i&gt;n&lt;/i&gt; = 396) otherwise. For interpretation, barriers reported significantly more often by non-users were labelled as ‘anticipated’, whereas those reported significantly more often by users were labelled as ‘experienced’; these labels were based on service use status rather than direct temporal measurement. Logistic regression with marginal effects was used to identify predictors of the most common anticipated barrier.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;A clinic environment perceived as unwelcoming or inaccessible was reported by 17.6% of non-users and 4.5% of users (&lt;i&gt;p&lt;/i&gt; &lt; 0.001). Users more frequently reported difficulty participating during appointments or examinations (9.95% vs. 4.25%, &lt;i&gt;p&lt;/i&gt; = 0.004), equipment that could not be adapted (8.0% vs. 4.3%, &lt;i&gt;p&lt;/i&gt; = 0.043), limited availability of accessible assessment tools (7.1% vs. 3.5%, &lt;i&gt;p&lt;/i&gt; = 0.043) and limited provider experience in delivering accessible care for people with IDs (7.6% vs. 2.6%, &lt;i&gt;p&lt;/i&gt; = 0.003). Higher caregiver strain and having ≥ 2 vision-related conditions were associated with reporting the environmental barrier.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusion&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Barriers reported by non-users suggest that perceptions of clinics as unwelcoming or inaccessible may discourage families from seeking a first eye examination for people with IDs. Improving accessibility and the care environment, ","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 8","pages":"845-857"},"PeriodicalIF":2.4,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70123","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148143571","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":"Mother–Child Closeness Trajectories in Families of Children With Intellectual Disabilities From a UK Cohort Study","authors":"Emma L. Taylor,&nbsp;Paul A. Thompson,&nbsp;Samantha Flynn,&nbsp;Kylie M. Gray,&nbsp;Richard P. Hastings","doi":"10.1111/jir.70122","DOIUrl":"10.1111/jir.70122","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The closeness of the parent–child relationship may be a crucial factor in the development of all children, including those with intellectual disabilities. Previous research has suggested that there may be subgroup trajectories of mother–child closeness in families of children with intellectual disabilities during childhood. Our aim was to examine whether potential subgroup trajectories of mother–child closeness in families of children with intellectual disabilities exist and what factors influence identified trajectories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 353 maternal primary caregivers who took part in three waves of the 1000 Families Study, over the course of 8 years, were analysed using growth mixture modelling. Mother–child closeness was measured using the Child Parent Relationship Scale at all three waves. Time-varying (maternal psychological distress, child behaviour and emotional problems, child prosocial behaviour) and time-invariant (child's level of communication skills, autism diagnosis) correlates of class membership and within-class trajectories were included in the analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The findings suggested a single trajectory of mother–child closeness, with observed heterogeneity accounted for by the covariates. Mother–child closeness on average remained consistent over time. Maternal psychological distress and an autism diagnosis were generally associated with reduced levels of mother–child closeness. The child's level of communication skills and child prosocial behaviour were associated with increased levels of closeness over time. Child behaviour and emotional problems were not associated with mother–child closeness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Further research using larger longitudinal population datasets is needed to explore whether there may be distinct trajectories of mother–child closeness in families of children with intellectual disabilities. The current findings suggest that supports for mother–child relationships might be targeted in families of children with lower levels of communication or prosocial behaviour skills, an additional autism diagnosis and when mothers are experiencing higher levels of psychological distress.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 8","pages":"835-844"},"PeriodicalIF":2.4,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148042592","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":"An Examination of the Cognitive and Behavioural Features Associated With Down Syndrome Regression Disorder","authors":"Mary Godfrey,&nbsp;Kyung Paik,&nbsp;George Capone","doi":"10.1111/jir.70118","DOIUrl":"10.1111/jir.70118","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Down syndrome regression disorder (DSRD) is a rare phenomenon of regression impacting individuals with Down syndrome (DS), occurring in adolescence to early adulthood and characterized by acute-to-subacute deterioration of functioning. Cognitive and behavioural phenotypes associated with DSRD have been examined using physician checklists but not yet through direct assessments or caregiver questionnaires. The goal of this initial study was to explore the cognitive and behavioural features of those with DS and regression (DS+regression) through direct assessment and informant questionnaires.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 25 individuals (DS+regression <i>n</i> = 13 and DS <i>n</i> = 12) participated in the study. Participants were administered a standardized measure of intellectual functioning, and caregivers completed questionnaires assessing executive functioning, mood, and adaptive functioning.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The two groups did not significantly differ on a standardized measure of intellectual functioning, although these results were based upon a reduced sample size (DS+regression <i>n</i> = 8), which limited interpretability. Results tentatively suggest that caregivers of those with DS+regression endorsed concern for executive functioning, mood and adaptive functioning in comparison to those without regression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study provides emerging evidence of cognitive and behavioural features reported by caregivers that may be associated with DSRD, with the goal of informing future studies with larger sample sizes. Our findings also emphasize the importance of evaluations for patients with DSRD, and the utility of caregiver-report measures to identify symptoms of regression for treatment planning.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 8","pages":"801-810"},"PeriodicalIF":2.4,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868635","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":"AI-Supported Learning Platforms for Students With Developmental Disabilities: A SWOT Analysis Approach","authors":"Aydın Bulut,&nbsp;Sibel Oğuz Haçat","doi":"10.1111/jir.70108","DOIUrl":"10.1111/jir.70108","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study examines the evolving role of Artificial Intelligence (AI) in developmental disability education, focusing on the shift from diagnosis-centred approaches to inclusive, learning-oriented paradigms grounded in STS, UDL and TPACK frameworks.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>A bibliometric and SWOT-based analysis was conducted on 1221 publications (2008–2025) indexed in the Web of Science to explore research trends, conceptual developments and international collaborations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Findings show that AI-supported learning platforms enhance personalisation, accessibility and data-driven pedagogy but are constrained by ethical, pedagogical and infrastructural challenges. The SWOT analysis identifies AI as a transformative yet fragile innovation dependent on teacher competence, ethical governance and global equity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Achieving a sustainable and human-centred AI ecosystem requires alignment across pedagogical development, transparent governance and inclusive global participation, positioning AI as a catalyst for educational justice in special education.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 8","pages":"788-800"},"PeriodicalIF":2.4,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70108","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147773982","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":"The Combined Role of Cognitive, Plasma, Volumetric and EEG Markers Along the Alzheimer's Disease Continuum in Down Syndrome","authors":"Javier García-Alba,&nbsp;Elisa M. Molanes-López,&nbsp;Pilar Zuluaga,&nbsp;Lucía Vaquero,&nbsp;Ricardo Bajo,&nbsp;José A. Hinojosa,&nbsp;Rocío Calvillo-Torres,&nbsp;José M. Galván-Román,&nbsp;Cristina Bell-Fenellos,&nbsp;Daniel Alcolea,&nbsp;Juan Fortea,&nbsp;Natalia Lagunas,&nbsp;Eva Alfayate,&nbsp;Felipe García,&nbsp;Gloria Mateo,&nbsp;Fernando Modenhauer,&nbsp;Alberto Fernández","doi":"10.1111/jir.70120","DOIUrl":"10.1111/jir.70120","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The validation of noninvasive markers for the early detection of Alzheimer's disease (AD) in Down syndrome (DS) is a crucial goal within this population. DS patients are characterised by their overall vulnerability and, particularly, by their high risk of developing AD due to genetic conditions. Considering this background, in this study, we analysed the benefits that a combination of markers might yield in such detection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Sixty-two participants (35 females, 27 males) with DS (age &gt; 45 years) distributed in three groups (asymptomatic [A_DS], prodromal [P_DS] and dementia [D_DS]) underwent clinical and neuropsychological evaluation, together with the assessment of brain volumetry, plasma (neurofilament light and p-tau217), genetic (APOE4) and EEG markers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Regression analyses demonstrated the key role of p-tau217 among the studied biomarkers. However, the inclusion of p-tau217 failed to produce any significant improvement in the diagnostic model based on verbal memory tasks. This model correctly classified 88.0% of the A_DS patients, 75.0% of the P_DS patients and 93.8% of the D_DS patients. In addition, a strong correlation was observed between p-tau217_, delta power, volumetric scores and memory performance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings suggested that, even when controlling the effect of elevated p-tau217 levels, the role of memory markers is essential to assist in AD diagnosis within the DS population. The combination of cognitive and plasma markers for the detection of prodromal AD cases in DS appeared to be highly effective. This is especially relevant after the recent FDA's approval of plasma markers such as ptau-217 for the diagnosis of AD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 8","pages":"823-834"},"PeriodicalIF":2.4,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147948638","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":"Autonomic Function in Fragile X Syndrome: A Systematic Review","authors":"Sydni Weissgold,&nbsp;Sarah E. A. Eley,&nbsp;Damien Wright,&nbsp;Andrew G. McKechanie,&nbsp;Andrew C. Stanfield","doi":"10.1111/jir.70106","DOIUrl":"10.1111/jir.70106","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Fragile X syndrome (FXS) is a monogenic X-linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these. Therefore, the objective of this review is to systematically examine existing evidence on autonomic function in FXS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>An electronic literature search was conducted on OVID platforms (Medline, Embase and PsycINFO) and Web of Knowledge databases for references published before 22 April 2025, which physiologically measured autonomic function in FXS. A preregistered search strategy was designed to gather literature on the autonomic nervous system in FXS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 1426 articles were identified, and 28 studies met the inclusion criteria. Samples comprised individuals across the lifespan (ages &lt; 1–71 years), with most studies utilising a case control design to examine indices of autonomic function; 75% of studies found a between-group difference in autonomic function metrics. Of these studies, hyperarousal in the FXS group was present in 86% (<i>N</i> = 18) of studies. Although some studies reported associations of autonomic function with clinical characteristics, findings varied considerably between studies. There was some evidence of potential differences between genders, although more research in female populations is required.</p>\u0000 \u0000 <p>Of the 28 included studies, 64% (<i>N</i> = 18) further examined links between autonomic function and clinical characteristics associated with FXS, demonstrating links between relevant clinical symptoms, that is, autistic traits and hyperarousal, as well as potential gender differences in autonomic function.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The findings demonstrate evidence for autonomic hyperarousal as a clinical phenotype in FXS across the lifespan. Future work is required to define whether overactivation of the sympathetic nervous system, as indicated by hyperarousal in FXS, can be linked to clinical symptoms. Variations in sample demographics as well as in methodological approaches to measuring autonomic function both hinder accurate comparison of the results from included studies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 8","pages":"773-787"},"PeriodicalIF":2.4,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70106","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774033","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}