Journal of Intellectual Disability Research最新文献

{"title":"Development and Validation of a Cross-Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome.","authors":"R M Pollak, E Sefik, C Klaiman, M K Harner, D V Bishop, J R Purcell, T Irving, C A Saulnier, S Pulver, J F Cubells, E F Walker, M M Murphy, J G Mulle","doi":"10.1111/jir.70116","DOIUrl":"https://doi.org/10.1111/jir.70116","url":null,"abstract":"<p><strong>Background: </strong>Advances in genomics have resulted in a rapid expansion of the number of known rare genetic disorders (RGDs). However, the low frequency of RGDs presents a challenge for accurately describing the phenotypic spectrum of a given disorder. Remote phenotyping strategies are uniquely poised to address this knowledge gap. Here, we have piloted remote evaluation of cognitive ability and psychosis spectrum symptoms in 3q29 deletion syndrome (3q29del), a hallmark RGD.</p><p><strong>Methods: </strong>Individuals with 3q29del (n = 21, 57% male, mean age = 14.3 ± 8.6 years) were remotely evaluated using the Penn Computerized Neurocognitive Battery (Penn-CNB), Peabody Picture Vocabulary Test (PPVT) and the Structured Interview for Prodromal Syndromes (SIPS). Scores were compared with prior in-person IQ testing results and SIPS scores from our previously published study.</p><p><strong>Results: </strong>Remote cognitive assessment using the Penn-CNB and the PPVT accurately captured full-scale IQ (r = 0.710, p = 0.001) and verbal IQ (r = 0.637, p = 0.003), respectively, as compared with in-person assessment with gold-standard instruments. Psychosis spectrum symptoms measured using the SIPS were significantly correlated between in-person and remote evaluations (total score r = 0.753, p = 0.003; positive domain score r = 0.806, p = 0.0009).</p><p><strong>Conclusions: </strong>Based on the successful pilot, we designed a protocol for remote phenotyping of individuals with 3q29del. The phenotyping battery is comprised of caregiver-report and direct assessments to capture the spectrum of neurodevelopmental, neuropsychiatric and medical features associated with the 3q29 deletion. While we focused on specific areas of concern for 3q29del, the high degree of phenotypic overlap between 3q29del and other RGDs renders this protocol amenable for implementation across a variety of RGDs, facilitating a deeper understanding of the phenotypic spectrum and cross-disorder comparison. Ultimately, we hope that the increased utilization of remote phenotyping strategies will help to expand our understanding of RGDs at large, which will lead to improved clinical management strategies and better long-term outcomes for affected individuals and their families.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147838939","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":"Correction to \"The needs of family members of people with severe or profound intellectual disabilities when collaborating with healthcare professionals: a systematic review\".","authors":"","doi":"10.1111/jir.70115","DOIUrl":"https://doi.org/10.1111/jir.70115","url":null,"abstract":"","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147838877","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":"Parental Support and Physical Activity in Children With Intellectual Disabilities: The Moderating Role of Parenting Styles.","authors":"Kewang Yao, Xudong Yang, Xiaohuan Tan, Lei Zhang, Xueping Wu","doi":"10.1111/jir.70112","DOIUrl":"https://doi.org/10.1111/jir.70112","url":null,"abstract":"<p><strong>Background: </strong>Drawing on Darling and Steinberg's integrative model of parenting, this study investigated the influence of parental support (companionship and modelling) on the physical activity levels of children with intellectual disabilities, with a specific focus on the moderating role of different parenting styles.</p><p><strong>Methods: </strong>A cross-sectional survey was conducted using a convenience sample of 191 parents of children with ID in China. Data were collected via parental support scales, the short form of the International Physical Activity Questionnaire (IPAQ-S) and a parenting style questionnaire. Hierarchical regression analysis was employed to test the main effects of parental support, and the PROCESS macro (Model 1) with the bootstrap method was used to examine the moderating effects of parenting styles.</p><p><strong>Results: </strong>Both parental companionship (B = 865.62, p < 0.001) and parental modelling (B = 829.79, p < 0.001) were significant positive predictors of children's physical activity levels. Moderating effect analyses revealed that a democratic parenting style significantly enhanced the positive effects of parental support. In contrast, an inconsistent parenting style significantly weakened the positive effect of parental modelling (Coeff = -579.22, p = 0.007). The interaction with parental companionship showed a similar negative trend but was marginally significant (p = 0.057), indicating a need for further verification. Other nondemocratic parenting styles (authoritarian, permissive and indulgent) showed no significant moderating effects.</p><p><strong>Conclusions: </strong>Parental support is a key predictor of physical activity in children with intellectual disabilities, but its effectiveness is significantly moderated by the family's parenting context. A democratic parenting style acts as a 'catalyst', optimizing the impact of supportive behaviours, whereas an inconsistent parenting style acts as an 'inhibitor', particularly weakening the effectiveness of role modelling. The findings suggest that health promotion interventions for this population should adopt a dual-focused strategy: guiding parents to provide specific support behaviours while simultaneously fostering a democratic and consistent parenting climate.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147838856","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":"Labour of Love: A Sequential Exploratory Mixed-Methods Study on the Impact of Caring for a Child With Dravet Syndrome.","authors":"Amber Postma, Megan Milota, Marian J Jongmans, Eva H Brilstra, Janneke R Zinkstok","doi":"10.1111/jir.70113","DOIUrl":"https://doi.org/10.1111/jir.70113","url":null,"abstract":"<p><strong>Background: </strong>Dravet syndrome (DS) is a rare genetic epilepsy syndrome, characterized by refractory seizures, delayed development, intellectual disability and behavioural difficulties. Caring for a child with DS can negatively affect parents' mental well-being. Therefore, this study aimed to (1) explore experiences of parents caring for a child with DS; and (2) assess distress and empowerment in these parents and the interplay between these aspects.</p><p><strong>Methods: </strong>We used a sequential exploratory mixed-method design. We conducted focus groups with parents of children/adults with DS, analysed these data through iterative coding to identify themes and used the Distress Thermometer for parents (DT-P) and the Dutch Family Empowerment Scale (FES) for quantitative measures. Results were validated in a final focus group.</p><p><strong>Results: </strong>Twenty parents participated in focus groups and 65 completed questionnaires. Four themes emerged: handling the unpredictable behaviour of a child with DS, attending to one's mental health needs and well-being, adjusting life and accepting changes to meet the child's needs and struggles navigating the (health)care system. Quantitative analyses showed a significant correlation between higher parental empowerment and lower distress, and more behavioural difficulties in their child with DS and higher parental distress.</p><p><strong>Conclusions: </strong>Parental distress is high, especially for those parenting a child with DS and behavioural difficulties. Effective management of these issues and enhancing empowerment can improve overall family well-being.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774006","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":"Associations of Person-Centred Planning and Service Coordination With Health Outcomes of Adults With Developmental Disabilities.","authors":"Elad Daniels, Joseph Caldwell, Kaitlin Stober","doi":"10.1111/jir.70109","DOIUrl":"https://doi.org/10.1111/jir.70109","url":null,"abstract":"<p><strong>Background: </strong>People with intellectual and developmental disabilities (IDD) experience significant health and healthcare disparities. Home and community-based services (HCBS) are crucial for the health and well-being of adults with IDD, and national regulations mandate person-centred planning (PCP) for all HCBS service administration. Despite these requirements, limited evidence exists on how PCP impacts health outcomes. This study examines the association of PCP and health outcomes, unmet healthcare needs and preventative care access.</p><p><strong>Methods: </strong>This study uses 2021-2023 National Core Indicators for Intellectual and Developmental Disabilities (NCI-IDD) In-Person Survey data from 36 states, with an analytical sample of 12 022 adults with IDD. Three composite measures were constructed to capture distinct self-reported dimensions on the person-centredness of the planning meeting, service plan and service coordination. Each measure was dichotomised to distinguish dimensions that were not fully person-centred (0) from those that were (1). Dependent variables include seven items on health outcomes, unmet healthcare needs and preventative care. Modified Poisson multivariate regression models examined the association of PCP and health and healthcare outcomes via adjusted relative risk estimates.</p><p><strong>Results: </strong>People with fully person-centred planning meetings and service coordination were less likely to have unmet needs in finding doctors (0.79, p = 0.018; 0.74, p = 0.037) and managing medications (0.72, p = 0.004; 0.74, p = 0.031). Fully person-centred service coordination was associated with lower unmet mental health needs (0.75, p = 0.025), better self-reported health (0.84, p = 0.019) and lower chance of emergency room visits (0.89, p = 0.019). Service coordination consistently showed the largest protective influence against unmet needs and adverse health outcomes.</p><p><strong>Conclusions: </strong>This study contributes new evidence that PCP, and particularly person-centred service coordination, is associated with better health and healthcare outcomes for people with IDD. These findings are crucial for addressing IDD health disparities and offer insights for state compliance with national quality measurement requirements for PCP.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147773985","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":"Correction to 'Reliability of the Dutch Version of the Matson Evaluation of Drug Side Effects in People With Intellectual Disabilities'.","authors":"","doi":"10.1111/jir.70107","DOIUrl":"10.1111/jir.70107","url":null,"abstract":"","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774044","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, Sarah E A Eley, Damien Wright, Andrew G McKechanie, Andrew C Stanfield","doi":"10.1111/jir.70106","DOIUrl":"https://doi.org/10.1111/jir.70106","url":null,"abstract":"<p><strong>Background: </strong>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><p><strong>Method: </strong>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><p><strong>Results: </strong>A total of 1426 articles were identified, and 28 studies met the inclusion criteria. Samples comprised individuals across the lifespan (ages < 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% (N = 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. Of the 28 included studies, 64% (N = 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><p><strong>Conclusions: </strong>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>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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, Sibel Oğuz Haçat","doi":"10.1111/jir.70108","DOIUrl":"https://doi.org/10.1111/jir.70108","url":null,"abstract":"<p><strong>Background: </strong>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><p><strong>Method: </strong>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><p><strong>Results: </strong>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><p><strong>Conclusions: </strong>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>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Development and Validation of Models of Risk for Behaviours That Challenge in Children With Developmental Disabilities: A Novel Machine Learning Approach.","authors":"Laura Groves, Guy Davies, Chris Oliver, Debbie Allen, Charlie Bamford, Louise Bell, Chloe Brown, Vivian Cooper, Louise Daniel, Jo Garstang, Chris Jones, Joseph P McCleery, Ashley Liew, John Rose, Doug Simkiss, Catherine Steenfeldt-Kristensen, Alice Welham, Caroline Richards","doi":"10.1111/jir.70105","DOIUrl":"https://doi.org/10.1111/jir.70105","url":null,"abstract":"<p><strong>Background: </strong>Children with developmental disabilities show a high prevalence of behaviours that challenge (BtC). Thus, harnessing known risk markers to target early intervention to children at the greatest risk of BtC is essential. In this study, machine learning techniques were used to develop prediction models of risk (no, low and high severity behaviour) for different BtC (self-injurious behaviour, aggression, property destruction, 'any BtC'). A secondary aim was to assess the external validation of these models to predict future behaviour.</p><p><strong>Method: </strong>Caregivers of individuals with developmental disabilities completed the Self-injury, Aggression and Destruction Screening Questionnaire. One dataset (n = 778) was used to train and test models to establish internal validation. Algorithms were created using random forest classifiers, K-nearest neighbours, multiple logistic regressions and Gaussian mixture models (GMM) for each type of behaviour. External validation utilising a second dataset of caregivers (n = 121) completing the SAD-SQ at baseline and 12 months later was then conducted.</p><p><strong>Outcomes: </strong>Across internal and external validation, the random forest classifiers and GMM algorithms for any BtC showed the highest number of correct classifications with fair to good recall and precision, with 83.5% of people at risk of BtC correctly predicted. Predictions of persistence and incidence of behaviour over 12 months was also good (83.5% and 83.3%, respectively).</p><p><strong>Interpretation: </strong>The novel prediction models showed the ability to predict BtC for children with developmental disabilities. Such models have applicability to clinical practice to inform provision of early preventative interventions for BtC.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147729199","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":"Reliability and Validity of Questionnaires to Assess Communication Skills in People With Intellectual Disabilities: A Systematic Review","authors":"Catriona Windsor,&nbsp;Kari-Anne Bottegård Næss,&nbsp;Melanie Kirmess,&nbsp;Stijn Deckers,&nbsp;Natalie Ballentine,&nbsp;Sangwon Yoon,&nbsp;Renée Speyer","doi":"10.1111/jir.70063","DOIUrl":"10.1111/jir.70063","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>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>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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.</p>\u0000 \u0000 <p><b>Prospero Id:</b> CRD42023413902</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 5","pages":"449-471"},"PeriodicalIF":2.0,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70063","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}