Journal of Intellectual Disability Research最新文献

{"title":"What Constitutes Effective Support and Provision Within Day Service Centres for People With Intellectual Disabilities? A Systematic Review of Qualitative Research","authors":"James Belsey,&nbsp;Rachel Harrison","doi":"10.1111/jir.70146","DOIUrl":"10.1111/jir.70146","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This review aimed to investigate the effectiveness and quality of support and provision within day service centres for people with intellectual disabilities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>The International Bibliography of the Social Sciences, Scopus and PsycInfo databases were searched in August 2024, and the results were reported according to the PRISMA guidelines. Peer-reviewed, English-language, qualitative studies that investigated the effectiveness of day service provision for people with intellectual disabilities in non-residential settings were considered for review. Methodological quality of the included studies was assessed using the JBI Critical Appraisal Tool for qualitative research. Qualitative themes were identified through thematic analysis and synthesised using the ConQual approach.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fourteen studies were included and four key themes emerged: ‘perceptions of service quality’; ‘community-orientation, integration, and empowerment’; ‘challenging behaviours and safety’; and ‘staff-centred factors and job satisfaction’. Confidence in the evidence was ‘very low’ for 3/4 themes, while there was ‘moderate’ confidence in the evidence related to the theme ‘perceptions of service quality’.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Day service centres for people with intellectual disabilities may enhance their effectiveness and quality of provision by concentrating on promoting communication, engagement, relationships, social networks and community integration. Addressing the methodological shortcomings and incomplete reporting of related research in future would contribute to improvements in overall confidence in the evidence base. This can then be better used to inform and further enhance day service provision for people with intellectual disabilities.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 10","pages":"1001-1011"},"PeriodicalIF":2.4,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70146","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148447522","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 Interpretable Machine Learning Model for Predicting Intellectual Disability in Children With Cerebral Palsy","authors":"Deyou Ma,&nbsp;Yiwen Wang","doi":"10.1111/jir.70130","DOIUrl":"10.1111/jir.70130","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Intellectual disability (ID) affects approximately 45% of children with cerebral palsy (CP), yet early identification is frequently hindered by severe motor and communication impairments. This study aimed to develop and validate an interpretable machine learning (ML) framework for predicting ID risk in children with CP.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this retrospective, registry-based study, data from 807 children with CP were analysed. To ensure temporal validity, all predictors were restricted to clinical and neuroimaging assessments confirmed by 2 years of age. Eight ML algorithms were trained and compared on an independent test set, and SHapley Additive exPlanations (SHAP) were applied to interpret model output at both the global and the individual levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The optimized models achieved robust discriminative performance, with the highest area under the receiver operating characteristic curve (AUC) reaching 0.813 on the independent test set. SHAP analysis revealed a highly skewed distribution of predictive features: The inability to achieve independent sitting by age 2 was the most critical risk factor, followed by early-onset epilepsy, spastic quadriplegia and severe Gross Motor Function Classification System (GMFCS) levels. Baseline perinatal factors demonstrated lower direct predictive utility, and local SHAP analyses successfully mapped individualized risk trajectories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This transparent ML approach functions as a reliable decision-support tool, translating complex algorithmic output into clinically intuitive insights. It may empower clinicians to move from ‘wait-and-see’ approaches towards timely, personalized neurodevelopmental interventions for high-risk children.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 10","pages":"1012-1021"},"PeriodicalIF":2.4,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148211409","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":"Securing Educational Support for Children With Rare Genetic Conditions: Mothers' Experiences and Impacts on the Family","authors":"Lowri O'Donovan,&nbsp;Anne-Marie Burn,&nbsp;Tamsin Ford,&nbsp;Marianne van den Bree","doi":"10.1111/jir.70141","DOIUrl":"10.1111/jir.70141","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Children with rare genetic conditions are more likely to experience neurodevelopmental challenges requiring additional educational support. Although the governments in the United Kingdom and Ireland are committed to providing such support, securing it can be challenging for parents, with potential adverse implications for their mental health. Children who do not receive the educational support they need are at greater risk of poorer educational outcomes. This study aimed to remedy the lack of empirical data about the experiences of parents of children with rare genetic conditions in obtaining educational support and how these experiences affect them and their families.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Sixteen mothers were interviewed about their experiences of securing educational support for their child(ren) with a rare genetic condition. Qualitative data were collected during the Covid-19 pandemic. Participants reflected on experiences both prior to and during this period. Data were analysed using Framework Analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Five main themes were identified: (1) fighting for access into ‘the system’, (2) a lengthy process to secure support, (3) factors enabling access, (4) challenges after securing support and (5) impact of experience on mothers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Accessing educational support was challenging, lengthy and stressful, with negative effects on mothers' mental health and relationships with wider family members. Parents of children with rare genetic conditions may face additional challenges securing support.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 10","pages":"1063-1076"},"PeriodicalIF":2.4,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70141","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148412044","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":"Evaluating Scoring Mechanisms for Measuring the Stroop Effect in Individuals With Down Syndrome","authors":"E. Denne,&nbsp;D. Fidler,&nbsp;S. Wiley,&nbsp;S. Williams,&nbsp;A. J. Esbensen","doi":"10.1111/jir.70139","DOIUrl":"10.1111/jir.70139","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The Cat/Dog Stroop task is a modification of the original Stroop task as a measure of cognitive inhibition frequently used in studies of individuals with Down syndrome (DS). There is great heterogeneity in scoring mechanisms for this task and similar Stroop tasks, potentially impacting convergence of and interpretation of study findings. We review scoring mechanisms used with the Stroop task in the general population and those that are used among individuals with DS to evaluate the strengths and weaknesses of these scoring mechanisms in this population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>We reviewed the literature to identify current scoring mechanisms used for the original Stroop task and for the Cat/Dog Stroop task among individuals with DS. Using a sample of 146 children and adults with DS ages 6–29 years who completed the Cat/Dog Stroop, we independently modelled the identified scoring mechanisms. Scoring mechanisms were assessed for skew, kurtosis and normality as assessed through the Anderson–Darling test with the full sample and by age bands.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eight distinct scoring mechanisms were identified that could be used with the conditions present in the Cat/Dog Stroop task. Six of these eight scoring mechanisms had been used in studies of individuals with DS, with the remaining two mechanisms not yet applied to Cat/Dog Stroop in individuals with DS. Of these scoring mechanisms, one mechanism consistently emerged across stratified age groups as approximating normality for the Cat/Dog Stroop task based on skewness, kurtosis and tests of normality in a sample of individuals with DS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>For consistency in how the Cat/Dog Stroop task is scored for children and adults with DS, we recommend that the number of correct responses in the incongruent condition should be divided by completion time in the incongruent condition. Additionally, for adults, incongruent completion time minus the congruent completion time or incongruent completion time divided by congruent completion time may also be appropriate.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"70 10","pages":"1051-1062"},"PeriodicalIF":2.4,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70139","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148375946","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":"Conversational AI as Personalised Cognitive Support: Adults With Intellectual Disability's Experiences of Everyday Decision-Making.","authors":"Izaskun Álvarez-Aguado, Vanessa Vega, Miguel Roselló-Peñaloza, Leyre Álvarez Aguado, Karla Campaña Vilo, Jennifer Figueroa Figueroa, Felipe Muñoz La Rivera, Félix González-Carrasco, Felipe Espinosa Parra","doi":"10.1111/jir.70171","DOIUrl":"https://doi.org/10.1111/jir.70171","url":null,"abstract":"<p><strong>Background: </strong>Conversational artificial intelligence (AI) has the potential to transform personalised supports for people with intellectual disability by extending assistance beyond task completion to everyday reasoning and decision-making. However, little is known about how adults with intellectual disability experience this technology. This study explored how adults with intellectual disability experienced conversational AI as a support for everyday decision-making.</p><p><strong>Methods: </strong>A qualitative interpretivist study was conducted with 46 adults with mild-to-moderate intellectual disability recruited through six community organisations in Chile. Participants used a conversational AI platform for 4 weeks before completing semistructured interviews. Data were analysed using Reflexive Thematic Analysis.</p><p><strong>Results: </strong>Four interconnected themes were identified. Participants experienced conversational AI as a resource that supported understanding through dialogue, helped them organise their thinking while retaining ownership of decisions, complemented existing support networks, and was considered legitimate only when accessible, personalised, and user-controlled. Participants rejected AI as a substitute for human support, instead describing it as a tool that helped them reflect, prepare for decisions, and feel more confident before deciding.</p><p><strong>Conclusion: </strong>Participants experienced conversational AI as a personalised form of cognitive support that helped them organise their thinking and approach everyday decisions while retaining ownership of the final decision. These findings suggest that generative AI has the potential to extend existing personalised support models by supporting how adults with intellectual disability engage with thinking and decision-making, highlighting the importance of accessible, user-controlled, and codesigned AI systems.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148906119","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":"Expanding the Clinical Spectrum of DHX30-Related Neurodevelopmental Disorder: A Case Report and a Scoping Review.","authors":"Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong-On, Pornprot Limprasert","doi":"10.1111/jir.70169","DOIUrl":"https://doi.org/10.1111/jir.70169","url":null,"abstract":"<p><strong>Background: </strong>Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30-related NDD (DHX30-NDD) is a recently described condition with an evolving phenotypic spectrum.</p><p><strong>Objectives: </strong>To expand the understanding of the DHX30-NDD genotype-phenotype spectrum by integrating a case-based WES interpretation with a scoping review.</p><p><strong>Methods: </strong>We performed comprehensive genetic analysis (karyotyping, microarray, WES) on a proband with global developmental delay (GDD). A systematic literature search of PubMed/MEDLINE, Scopus and Google Scholar from database inception to April 2026 identified 10 publications including 51 individuals with DHX30-NDD. Clinical and genetic data were extracted to characterize the genotype-phenotype spectrum.</p><p><strong>Results: </strong>The proband presented with GDD and right microtia, harbouring a de novo heterozygous pathogenic DHX30 missense variant (c.1478G > A; p.Arg493His), confirming DHX30-NDD. To our knowledge, this is the first reported individual with DHX30-NDD and microtia. The scoping review confirmed DHX30 variants are formed predominantly de novo and affected both sexes (22 males; 29 females). Hallmark manifestations were motor delay (50/51; 98.0%), GDD/ID (48/49; 98.0%), hypotonia (48/51; 94.1%), feeding difficulties (38/51; 74.5%), ataxia (17/23; 73.9%), abnormal brain imaging (36/49; 73.5%) and absent expressive language (35/48; 72.9%). Digital anomalies (31/51; 60.8%), eye anomalies (28/51; 54.9%), autistic behaviours (24/44; 54.5%), sleep disturbances (26/51; 51.0%), joint hypermobility (25/51; 49.0%), microcephaly (23/51; 45.1%) and ear anomalies (22/51; 43.1%) were also frequent.</p><p><strong>Conclusions: </strong>This study potentially expands the phenotypic spectrum of DHX30-NDD, highlights the clinical utility of WES for diagnosing GDD and underscores the importance of ongoing WES reanalysis for evolving variant interpretation.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148900218","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":"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}