Journal of Intellectual Disability Research最新文献

{"title":"Metabolomic Profiles in Down Syndrome: A Scoping Review of Convergent and Context-Dependent Patterns","authors":"Carolina Gastélum Guerrero,&nbsp;Alma M. Guadrón Llanos,&nbsp;Loranda Calderón Zamora,&nbsp;Alberto K. De la Herrán Arita,&nbsp;Yair Cruz Narváez,&nbsp;Gisela Duarte de la Peña,&nbsp;Javier A. Magaña Gómez","doi":"10.1111/jir.70125","DOIUrl":"10.1111/jir.70125","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Individuals with Down syndrome (DS) face a high burden of health complications, yet the molecular underpinnings remain incompletely defined.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The objective of this study is to systematically identify metabolomic changes in individuals with DS and how they relate to DS-associated conditions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A scoping review of the literature was performed across four online databases to identify studies profiling metabolites in people with DS using untargeted or targeted metabolomics procedures. The findings were narratively synthesised to provide a comprehensive overview of patterns of convergence and variability across studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Thirty-four studies examining metabolites in individuals with DS were identified. The combined findings revealed widespread disruptions in energy (e.g., tricarboxylic acid cycle intermediates and acylcarnitines), one-carbon (e.g., methionine and the SAM/SAH axis), amino acid (e.g., tryptophan-kynurenine and glutamate/GABA) and lipid (e.g., phospholipids and sphingolipids) metabolism, along with changes in immune and neurotransmitter pathways. These metabolic alterations are associated with phenotypic variability and comorbidities in DS. However, the evidence reflects partially convergent and context-dependent patterns, with substantial variability across studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Metabolic disturbances are common in DS, suggesting candidate metabolic signatures that still require independent replication and validation. Current evidence is predominantly cross-sectional and associative, limiting causal inference. Integrating metabolomics with multi-omics approaches may enhance the understanding of DS-related health issues and support future translation into clinical applications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 9","pages":"962-981"},"PeriodicalIF":2.4,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70125","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148217982","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":"Abstracts for Presentation at the SSBP 28th Research Symposium and Educational Day, Edinburgh, UK","authors":"","doi":"10.1111/jir.70153","DOIUrl":"10.1111/jir.70153","url":null,"abstract":"","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 9","pages":"891-906"},"PeriodicalIF":2.4,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70153","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840347","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":"Repetitive Behaviours in Williams Syndrome: A Cross-Cultural Comparison Between the United Kingdom and Japan","authors":"Masahiro Hirai,&nbsp;Kosuke Asada,&nbsp;Mary Hanley,&nbsp;Deborah Riby","doi":"10.1111/jir.70133","DOIUrl":"10.1111/jir.70133","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Williams syndrome (WS) is a relatively rare neurodevelopmental condition characterised by distinctive cognitive and behavioural phenotypes, including restricted and repetitive behaviours (RRBs). Although cross-cultural studies suggest that caregiver reports of autism-related RRBs may be culturally subjective, little is known about whether caregiver-reported RRB profiles in WS are similar across cultural contexts. Additionally, because RRB profiles may vary with age, examining cross-sectional age-related patterns is important. This study explored between-country variation and cross-sectional age-related patterns in caregiver-reported Repetitive Behaviour Questionnaire (RBQ) scores among individuals with WS in the United Kingdom and Japan.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Eighty primary caregivers of individuals with WS from Japan (<i>n</i> = 40) and the United Kingdom (<i>n</i> = 40) completed the Repetitive Behaviour Questionnaire (RBQ). Bayesian negative binomial regression models were used to examine between-country differences and cross-sectional age-related associations in caregiver-reported RBQ total, sensory/motor and sameness/circumscribed interests scores.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>UK caregivers reported directionally higher Total RBQ and Sameness/Circumscribed Interests scores than Japanese caregivers, with the clearest contrast observed for the Sameness/Circumscribed Interests domain. No clear evidence of a between-country difference was found for caregiver-reported Sensory/Motor Behaviours scores, although a weak directional tendency toward higher UK scores was observed. Moreover, age showed weak cross-sectional negative trends for total RBQ and Sensory/Motor Behaviours scores, although these estimates were imprecise and were attenuated in the verbal mental age-adjusted analyses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These findings are consistent with previous studies of caregiver-reported RRBs among autistic individuals, suggesting that insistence on sameness and circumscribed interests may be reported differently across cultural contexts. In WS, caregiver-reported RBQ profiles may vary by cultural context and show tentative cross-sectional age-related patterns, highlighting the need to consider contextual and developmental factors when interpreting parent-report measures of these behaviours.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 9","pages":"923-934"},"PeriodicalIF":2.4,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148345573","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":"Exploring Parents' Values in Healthcare Decision-Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development","authors":"Mirthe J. Klein Haneveld,&nbsp;Louise Cox,&nbsp;Petri J. C. M. Embregts,&nbsp;Alistair R. Niemeijer,&nbsp;Martina C. Cornel,&nbsp;Charlotte M. W. Gaasterland,&nbsp;Agnies M. van Eeghen","doi":"10.1111/jir.70150","DOIUrl":"10.1111/jir.70150","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Healthcare decision-making for individuals with rare genetic neurodevelopmental disorders associated with intellectual disabilities can be complex and value-laden, in which parents often play a central role. To ensure that clinical practice guideline recommendations align with the perspectives of parents, it is essential to incorporate their values into the GRADE Evidence-to-Decision framework used in guideline development.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The aim of this qualitative study was to explore the values of parents of individuals with rare genetic neurodevelopmental disorders in healthcare decision-making. We explored what mattered to parents in relation to healthcare decisions and in the process of healthcare decision-making. Eighteen parents of individuals with 15 (ultra)rare genetic conditions participated in semi-structured interviews. Reflexive thematic analysis was used to generate themes from the data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Important values for making healthcare decisions were <i>proportionality</i>, considering balancing harms against the need to treat and feasibility for the family, and <i>equality</i>, with a need for inclusive, accessible and continuous healthcare. The process of decision-making in healthcare was described as a collaborative effort, in which <i>acknowledging parental knowledge</i> and <i>respecting and supporting autonomy</i> were important themes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The findings support the applicability of the Evidence-to-Decision framework to guideline development for rare genetic neurodevelopmental disorders, as <i>proportionality</i> and <i>equality</i> are reflected in its criteria. Implications for practice include explicit attention to family-level impacts and incorporating lived experience of parents to inform value judgements. Healthcare decision-making was described as a collaborative process, with a need for support and space for parents to clarify and communicate their values.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 9","pages":"913-922"},"PeriodicalIF":2.4,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70150","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148701361","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 Influencing the Implementation of Transitional Care for Adolescents With Profound Intellectual and Multiple Disabilities: Experiences of Dutch Healthcare Professionals","authors":"Ilse Ooms,&nbsp;AnneLoes van Staa,&nbsp;Erica Witkamp,&nbsp;Agnes van der Heide","doi":"10.1111/jir.70101","DOIUrl":"10.1111/jir.70101","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The transition from paediatric to adult healthcare is particularly challenging for adolescents with profound intellectual and multiple disabilities (PIMD) and their families. This study aims to identify factors that Dutch healthcare professionals perceived as relevant to successful implementation of transitional care for adolescents with PIMD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Semi-structured interviews were conducted with 20 professionals working in paediatric and adult healthcare. Data were analysed using directed content analysis, guided by Flottorp's checklist (2013) on preventing and enabling factors of improvements in healthcare.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Transitional care approaches vary at interpersonal, organisational and environmental levels. Enabling factors were parental self-reliance and competencies, a holistic perspective, professional networks, continuity and coordination of care, flexibility to deviate from standards and guidance from nonmedical actors. Preventing factors were family burden and emotions, suboptimal information transfer, insufficient agenda-setting, shortages of expert physicians and legal and administrative challenges. Continuous parental involvement and appropriate financial funding were enabling. The provision of person-centred care was considered essential.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Successful implementation of transitional care for adolescents with PIMD is a multifaceted process characterised by structural and personal challenges. Providing person-centred care increases the likelihood of appropriate transitional care in PIMD-care.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 9","pages":"935-944"},"PeriodicalIF":2.4,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70101","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147443856","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":"Keynote Abstracts for Presentation at the SSBP 28th International Research Symposium and Educational Day, Edinburgh, UK","authors":"","doi":"10.1111/jir.70154","DOIUrl":"10.1111/jir.70154","url":null,"abstract":"","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 9","pages":"907-912"},"PeriodicalIF":2.4,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70154","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840284","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":"Effective Translation Requires Effective Collaboration","authors":"Andrew C. Stanfield,&nbsp;Sarah E. A. Eley","doi":"10.1111/jir.70152","DOIUrl":"10.1111/jir.70152","url":null,"abstract":"","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 9","pages":"889-890"},"PeriodicalIF":2.4,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148604127","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 Impact of Fragile X Syndrome on Caregivers: A Systematic Review","authors":"Katerina Poprelka,&nbsp;Konstantina Stavrogianni,&nbsp;Panagiota-Eleni Tsalouchidou,&nbsp;Maria Stefanatou,&nbsp;Anastasia Verentzioti,&nbsp;Athanasia Alexoudi,&nbsp;Anastasios Bonakis,&nbsp;Stylianos Gatzonis","doi":"10.1111/jir.70159","DOIUrl":"10.1111/jir.70159","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well-being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This review was conducted in accordance with PRISMA guidelines. A thorough search of electronic databases was performed to identify relevant original research. Two reviewers independently screened the studies for eligibility, and the quality of included studies was evaluated using the CASP tool. Key data were extracted, and a narrative synthesis was used to summarise and interpret the findings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Twenty studies involving 3474 caregivers of children, adolescents and adults with FXS were included in this review. Thirteen studies were conducted in the United States, with additional research in the United States and Canada, Italy, France, the Netherlands and Australia. Female caregivers were the primary participants in most studies. Six primary factors were identified as shaping caregivers' experiences: care-recipients' age and gender, caregivers' characteristics, disease-related factors, compromised caregiver psychological well-being, disrupted family dynamics and limited support systems or unmet needs. Challenging behaviours in individuals with FXS consistently emerge as the factor exerting the greatest influence on caregivers' psychological and practical burden.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Caring for individuals with FXS places substantial burdens on caregivers, influenced by patient behaviour, family dynamics and limited support. Targeted, multidisciplinary interventions are needed to address these gaps and improve both caregiver well-being and care outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 9","pages":"945-961"},"PeriodicalIF":2.4,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70159","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148684905","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":"Prevalence of Mental Disorders in Parents With Intellectual Disabilities: A Systematic Review.","authors":"Sonya Rudra, Louise Marston, Angela Hassiotis, Giovanni Boido, Mary Baginsky, Claire A Wilson","doi":"10.1111/jir.70167","DOIUrl":"https://doi.org/10.1111/jir.70167","url":null,"abstract":"<p><strong>Background: </strong>Research indicates that an increasing number of adults with intellectual disabilities (IDs) are becoming parents. Parents with ID face multiple challenges that increase their mental health risks. In order to ensure better detection and tailored care for parents with ID, this systematic review aimed to summarise the prevalence of mental disorders in parents with ID during pregnancy, postpartum and parenthood.</p><p><strong>Methods: </strong>Studies included individuals with clinically diagnosed ID who had experienced pregnancy or parenthood and reported prevalence figures of mental disorders. Searches of MEDLINE, APA PsycINFO, EMBASE and grey literature were conducted from inception to July 2025. Risk of bias was assessed using the Mixed Methods Appraisal Tool.</p><p><strong>Results: </strong>The review identified 10 studies involving 42 207 individuals aged 18-58 years. Across the studies, the prevalence of mental disorders specifically during pregnancy was not reported; two studies screened women within 12 months postpartum; the remaining studies included parents of children aged 0-21 years. The results indicate an overall prevalence of 45% for any mental disorder in parents with ID. Studies using screening tools reported prevalence rates of up to 63% for depression, 30% for anxiety and 17% for psychosis. One large cohort study assessing mental health over the perinatal period reported increased odds of all mental disorders in mothers with ID. Due to the heterogeneity of methodologies used across studies data was not pooled.</p><p><strong>Conclusion: </strong>This review indicates a high prevalence of mental disorders in parents with ID. The findings highlight the need for tailored screening and support for parents with ID. However, literature is limited and more research is required.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840356","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":"Age Differences in Emotion Regulation Among Individuals With Down Syndrome.","authors":"Sophie Kowalski, Caron A C Clark","doi":"10.1111/jir.70163","DOIUrl":"https://doi.org/10.1111/jir.70163","url":null,"abstract":"<p><strong>Background: </strong>Although there is clear evidence that individuals with Down syndrome (DS) experience difficulties in identifying and interpreting emotions, there is limited research on emotional regulation in this population. Furthermore, many studies of individuals with DS focus on group comparisons against typically developing children, with few considering the role of development itself. Here, we addressed these gaps in the literature by examining individual differences in emotion regulation among individuals with DS using a multi-measure, multi-informant approach.</p><p><strong>Method: </strong>Thirty-eight individuals with DS aged 5-47 years and their caregivers completed an emotion recognition task, direct observations of their emotional negativity and self-comforting strategies during a frustrating puzzle and caregiver and participant reports of emotion regulation. Participants' language and executive function skills were also assessed.</p><p><strong>Results: </strong>Higher age was linked to less negativity and reduced use of comfort strategies during the puzzle task, although the relation of age to negativity was curvilinear, with negative behaviours being more prevalent again in late adulthood. Caregiver and self-reports indicated lower emotional lability among older participants. Language scores were linked to emotion recognition and caregiver-reported emotion regulation. Although correlated themselves, emotion recognition and executive function did not correlate significantly with other emotional regulation measures.</p><p><strong>Conclusion: </strong>Although further longitudinal research is required, results highlight the importance of a developmental perspective in research on emotion regulation in this population and suggest that interventions to enhance emotion regulation strategies may best be tailored to younger individuals with DS, whereas interventions that target language and executive function may support emotion recognition regardless of age.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148808671","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}