BACKGROUND:Aggressive behaviour in formal care settings for persons with intellectual disability or autistic adults poses significant challenges. Individual-level interventions have shown limited efficacy, highlighting the need to explore organisational and systemic approaches. However, research remains scarce on how organisational and managerial practices affect aggressive behaviours in care settings. OBJECTIVES:This project aimed to review service organisation and managerial practices affecting aggression towards others and objects in adults with intellectual disability or autism in formal care settings. METHODS:A systematic scoping review was conducted, focusing on the concepts of "Intellectual Disability/Autism Spectrum Disorder," "Aggressive Behaviour," and "Care Organisation". Academic databases (CINAHL, EMBASE, PsycINFO and Medline) and grey literature sources (Google Scholar, government sites) were searched for studies published between 1994 and 2023 in English and French. Selected articles were categorised by intervention type and a narrative synthesis was conducted for each category. FINDINGS:Of 4426 references, 12 publications were selected for narrative synthesis. The following interventions demonstrated positive effects on the frequency and severity of aggressive behaviour in formal care settings: enhanced services and revised care pathways, improved provider accountability, staff support and more livable, homelike physical environments. No effect was found for case grouping. CONCLUSION:Interventions addressing organisational and managerial practices may help reduce aggressive behaviour in formal care settings. Ecological models of health may guide the efforts of decision-makers and practitioners in this endeavour.
BACKGROUND:Identifying flexible and rigorous methods to administer assessments in Down syndrome research is critical for limiting participation burden. Tablet assessments have the potential to be presented remotely, but consistency between researcher and caregiver administrations is unknown. METHOD:Participants were 24 children with Down syndrome aged 10-17 years and their caregivers. Children completed two sessions: one administered by their caregiver and one administered by research staff. Tablet measures were selected from the NIH Toolbox and the Cambridge Neuropsychological Test Automated Battery (CANTAB). RESULTS:There were no significant differences between child performance on researcher-administered compared to caregiver-administered NIH Toolbox Flanker, CANTAB RTI and CANTAB PAL measures. Floor effects impacted additional measures with high agreement (NIH Toolbox Pattern Comparison). CONCLUSIONS:Task completion did not differ across administrators, demonstrating evidence for parents' ability to facilitate assessments. Inconsistent agreement statistics warrant future work in larger samples and additional understanding of child tablet assessment performance.
BACKGROUND:Humanistic and rights-based approaches emphasize dignity, autonomy, self-determination and meaningful participation in community life for adults with intellectual disabilities (ID). Yet, in many ID services, everyday support is often shaped by risk-averse routines, safeguarding responsibilities and normalization-oriented expectations, creating tensions between declared commitments and daily practice. This study focuses on a year-long residential volunteer programme in which Generation Z young adults live and volunteer alongside adults with ID in a residential community. Their close involvement in everyday life, combined with their absence of formal professional responsibilities, offers a unique vantage point for re-examining how autonomy, protection and expectations of progress are negotiated in everyday support. METHOD:Using a qualitative design, the study drew on focus-group data collected over 6 months with 12 young volunteers aged 18-19 in a year-long residential programme within a professionally guided residential ID service. The discussions explored volunteers' reflections on everyday support relationships, autonomy, protection, social inclusion and the meanings they attributed to volunteering. Data were transcribed verbatim and analysed manually using reflexive thematic analysis. RESULTS:The findings are organized according to the study's three research questions. Volunteers perceived the goals of support as extending beyond functional independence towards authentic dialogue, supported challenge and a more flexible understanding of progress. They also described volunteering as a developmental encounter that reshaped their self-perceptions through vulnerability, responsibility and relational acceptance. Finally, they viewed social change as dependent on everyday exposure to people with ID, through which their presence becomes familiar, ordinary and less stigmatized. CONCLUSIONS:Volunteers' reflections offer a distinctive lens for examining how humanistic commitments are translated into everyday residential support. Their accounts illuminate the relational and ethical tensions involved in balancing autonomy, protection, normalization and expectations of independence. The findings suggest the value of strengthening reflective practice in ID services and of re-examining how 'progress' is defined in everyday support, beyond functional goals and standardized expectations.
BACKGROUND: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. METHODS: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. RESULTS:Important values for making healthcare decisions were proportionality, considering balancing harms against the need to treat and feasibility for the family, and equality, with a need for inclusive, accessible and continuous healthcare. The process of decision-making in healthcare was described as a collaborative effort, in which acknowledging parental knowledge and respecting and supporting autonomy were important themes. CONCLUSIONS:The findings support the applicability of the Evidence-to-Decision framework to guideline development for rare genetic neurodevelopmental disorders, as proportionality and equality 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.
BACKGROUND: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. METHODS: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. RESULTS: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. CONCLUSIONS: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.
BACKGROUND:This study aimed to examine the types and frequency of challenging behaviours (CB) among students with intellectual and developmental disabilities in special education schools and identify profiles among them. METHODS:Data were collected from 239 special school staff members, who reported information on 635 students via an online survey. A multilevel latent class analysis was used to identify subgroups of students based on the type and frequency of CB while controlling for respondent nesting. RESULTS:According to respondents, among students in their classrooms (M = 6.02, SD = 2.54) about half displayed persistent CB (M = 2.88, SD = 2.08). Oppositional and socially inappropriate behaviours were the most frequently reported, displayed by over 90% of students with CB and occurring daily. Group 1 (n = 169, M = 11.00 years) exhibited the most severe and frequent CB across nearly all categories, mainly physical and verbal aggression and destructive behaviours. Group 2 (n = 200, M = 9.90 years) showed high levels of physical aggression, self-injurious and destructive behaviours, but very low levels of verbal aggression. Group 3 (n = 131, M = 12.17 years) was characterised by overall low levels of CB, with some verbal aggression. Finally, Group 4 (n = 135, M = 10.86 years) showed elevated rates of destructive behaviours, a moderate prevalence of physical aggression and self-injurious behaviours, in addition to the lowest rate of socially inappropriate behaviours. CONCLUSIONS:These profiles highlight the heterogeneity of CB presentations among students in specialised educational settings and underscore the need for tailored educational and behavioural support and intervention.
BACKGROUND:People with intellectual disability experience significant gaps in healthcare delivery resulting in poor health outcomes. Appropriately designed healthcare is required to meet the needs of this population and achieve better health outcomes. Little is known about the structure of healthcare delivery for people with intellectual disability and whether it is effective or cost-effective. To improve health services, this scoping review sought to describe how models of healthcare are structured and summarise evidence for their effectiveness and cost-effectiveness for people with intellectual disability in Australia. METHODS:A preliminary search of literature describing models of healthcare for people with intellectual disability in Australia was conducted to generate a description of how healthcare is delivered for people with intellectual disability. Following PRISMA-ScR guidelines, an electronic search of peer-reviewed literature of four databases (MEDLINE, CINAHL, PsycINFO and Cochrane Library) was undertaken in August 2024 and updated in February 2025, and websites of government departments of health across Australia were searched for grey literature. All study designs conducted in any healthcare setting in Australia were included if evaluation data were available. Outcome data related to the person with intellectual disability, carers, clinicians/service providers or health services were extracted. Data were synthesised qualitatively. RESULTS:Fifteen publications were identified including 10 peer-reviewed articles and five reports in the grey literature. The following components of healthcare delivery were described: reasonable adjustments, person-centred care, capacity building, care coordination, cross-sectoral coordination and specialist multidisciplinary teams. Each model of care was associated with some evidence of effectiveness. Cost-effectiveness was found with models that used cross-sectoral care coordination. CONCLUSIONS:The models of care were heterogeneous, and evaluations indicated positive outcomes including better health outcomes and reduced costs. The scope of evaluations and therefore generalisability of findings was limited. More high-quality research and suitable measures of outcome are needed to guide the design of best practice healthcare for people with intellectual disability. These findings provide important guidance for the implementation of the National Roadmap for Improving the Health of People with Intellectual Disability, a current policy initiative in Australia. The effectiveness and cost-effectiveness of cross-sectoral care coordination suggest that coordinated care at the intersection of the health and disability sectors could improve health outcomes. We suggest that strategies for effective delivery of healthcare are structured and standardised to enable more widespread implementation and evaluation by policy makers and practitioners.
BACKGROUND:The 1p36 deletion syndrome is a subtelomeric deletion syndrome characterized by developmental delay, epilepsy, and distinctive facial features. The diagnostic rate has improved with advances in genetic testing, including chromosomal microarray analysis. However, little is known about the psychosocial impact of a child's diagnosis on parents. This study aimed to explore the psychosocial experiences related to parenting among parents of children with 1p36 deletion syndrome. METHODS:The questionnaire survey was conducted among parents of children with 1p36 deletion syndrome, through the Japanese family association related to the syndrome. The questionnaire included items on the characteristics of parents and their children, information sources for 1p36 deletion syndrome, and complications and issues related to this syndrome. Parental mental health was assessed using measures of psychological distress and subjective well-being, with affiliate stigma examined as a key factor associated with mental health outcomes, along with other psychological variables including parental strain and self-esteem. RESULTS:Thirty-nine parents (mean age: 43.1 years) responded to the questionnaire. The mean age of the child at diagnosis was 1.9 years. Most parents obtained information from the internet, and information from medical and genetic specialists was limited. Parental challenges in medical and welfare aspects were diverse and varied by the child's developmental stage. Exploratory path analysis suggested that the association between affiliate stigma and mental health may be mediated by parental strain and self-esteem. Furthermore, affiliate stigma was significantly higher in parents of children with 1p36 deletion syndrome than in those with Down syndrome. CONCLUSIONS:Parents of children with 1p36 deletion syndrome experience limited access to information from medical and genetic specialists, diverse medical and welfare challenges across developmental stages, and potentially high levels of affiliate stigma. These findings suggest the need for psychosocial support that considers the potential impact of affiliate stigma and is tailored to the evolving challenges experienced across the child's developmental stages.
BACKGROUND:Psychotropic use and psychotropic polypharmacy are common in people with intellectual disabilities, but representative population-based studies on this topic are scarce. We evaluated the prevalence of psychotropic use and psychotropic polypharmacy in a Finnish nationwide cohort of people with intellectual disabilities aged 0-97 years. METHODS:The annual prevalence of psychotropic use in 2019 was studied among 37 196 individuals with intellectual disabilities and an age- and sex-matched comparison cohort with no diagnosis of intellectual disabilities. Psychotropics included antipsychotics, antidepressants, anxiolytics, hypnotics and sedatives and antiepileptics indicated for bipolar disorder (carbamazepine, valproic acid, lamotrigine, pregabalin and clonazepam). Prevalence of interclass psychotropic polypharmacy (use from ≥ 2 different psychotropic groups) was evaluated in a 4-month time window at the end of 2019. RESULTS:Prevalence of psychotropic use was higher in the intellectual disability cohort (42.3%) than comparison cohort (15.0%). Antipsychotics were the most common psychotropic group in the intellectual disability cohort (28%), with lower prevalence in the comparison cohort (3.3%). The prevalence of antidepressant use was 19.4% in the intellectual disability cohort and 9.7% in the comparison cohort. A likely indication was identified for 52.9% of psychotropic users with intellectual disability (major psychiatric comorbidity 38.1%, challenging behaviour 22.1%). Psychotropic polypharmacy was more common in the intellectual disability cohort (18.2%), than in the comparison cohort (3.6%). CONCLUSIONS:Our findings highlight concerns about psychotropic polypharmacy and potential overmedication. Using a comprehensive, nationwide cohort, this study emphasises the need for more evidence-based, person-centred approaches, including careful diagnostics, non-pharmacological interventions and regular treatment reviews.
BACKGROUND:This review aimed to investigate the effectiveness and quality of support and provision within day service centres for people with intellectual disabilities. METHOD: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. RESULTS: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'. CONCLUSIONS: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.
BACKGROUND: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. METHOD: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. RESULTS: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. DISCUSSION: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.
Background As increasing numbers of individuals with intellectual and developmental disabilities (IDD) live into adulthood, they struggle to access high-quality, age-appropriate healthcare. Physicians who feel ill-prepared to care for adults with IDD contribute to worsened access to and quality of care, which can ultimately lead to poorer health outcomes for this population.Objective Investigate physician-in-training perceptions of, experiences with and needs for treating patients with IDD.Methods We conducted qualitative, semistructured interviews with 20 senior resident physicians from five residency programs affiliated with the University of Colorado. We analysed data using thematic content analysis to identify and develop overarching themes.Results Four major themes emerged using thematic content analysis. First, communication challenges decreased resident confidence in the quality of care they provide. Second, residents felt that they did not have adequate skills to treat patients with IDD. Third, residents felt that this population of adults is not within the purview of most of their practice specialties. Lastly, physicians-in-training felt that more exposure to and support in caring for patients with IDD would increase their comfort treating patients with IDD.Conclusion Residents in adult specialties felt ill-equipped to care for adults with IDD and limited experiences heightened their fear of making mistakes. Greater experiential learning and better support resources could improve their confidence and future care quality for this important population.
BACKGROUND:There are few screening tools for intellectual disabilities that have been developed and used within Africa. This study aimed to examine the psychometric properties of the English version of the adolescent Screener for Intelligence and Learning Disabilities (SCIL) when used with Nigerian adolescents and young people. METHOD:Two hundred nine adolescents and young people (aged 11-26 years) completed the SCIL and took part in an assessment of their level of general intellectual functioning and adaptive behaviour. Initially, principal components analysis was used to determine whether SCIL items should be retained or removed. Discriminative and convergent validity were then examined, along with the sensitivity, specificity, positive predictive (PPV) and negative predictive (NPV) values, using adjusted and nonadjusted diagnostic criteria for intellectual disability. The diagnostic criteria were adjusted because Western intelligence tests were not developed for use within Africa, and their use without adjustment remains contentious. RESULTS:All SCIL items were retained. The SCIL had good internal consistency, discriminative and convergent validity. Using adjusted diagnostic criteria, a SCIL cutoff score of 10 revealed sensitivity = 0.66, specificity = 1, PPV = 1 and NPV = 0.83 for identifying those with an intellectual disability. AUC was 0.91. Unadjusted diagnostic criteria and the original SCIL cutoff score of 15, revealed sensitivity = 0.67, specificity = 0.98, PPV = 0.96 and NPV = 0.82 with an AUC of 0.96. CONCLUSIONS:The SCIL has good psychometric properties when used with Nigerian adolescents. Further factor analytic work is needed.
BACKGROUND:Adolescence is a period of high risk for the onset of mental health disorders. In the general population, approximately one in five children and adolescents experience a mental health disorder each year. Various research has shown that Asian Americans have the lowest amount of mental healthcare utilisation among all minority groups in the United States, obtaining treatment at less than half the rate compared to other racial-ethnic groups. Past studies have found that Asian children with special healthcare needs (CSHCN) experience poorer quality healthcare compared to non-Hispanic Whites. However, little is known about mental healthcare needs and utilisation rates among Asian American adolescents with intellectual and developmental disabilities (I/DD). METHOD:Data were acquired from the 2016-2020 National Survey of Children's Health (NSCH), provided by the Data Resource Center for Child & Adolescent Health (www.childhealthdata.org). Linear models and logistic regression analysis were performed to investigate the intersection of race and I/DD, family and social determinants, parent-reported need for mental healthcare and, if needed, receipt of mental healthcare in Asian American adolescents with I/DD. RESULTS:Asian American, non-Hispanic children with I/DD had higher odds of needing mental healthcare compared to White American, non-Hispanic children with I/DD. Social determinants, particularly family structure, non-primary English households, poverty level and insurance adequacy, contribute to the decline in needing and obtaining mental healthcare for children with I/DD. CONCLUSION:Adolescents with I/DD in the United States experience racial/ethnic disparities in mental healthcare. The findings from this suggest the need to investigate further into the intersection of race/ethnicity and I/DD in mental healthcare and the creation of policies that promote equitable access to mental healthcare services for adolescents with I/DD, especially for minority individuals.
BACKGROUND: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. METHODS:Eighty primary caregivers of individuals with WS from Japan (n = 40) and the United Kingdom (n = 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. RESULTS: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. CONCLUSIONS: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.
BACKGROUND:Prader-Willi syndrome (PWS) is a rare genetic disorder that is identified by the ICD-10 code Q87.11. Although this code has been used in several large studies, its diagnostic validity has not been evaluated. This study assessed the accuracy of the Q87.11 code for identifying individuals with PWS. METHODS:The electronic health record (EHR) of a large health system was reviewed for patients with the Q87.11 code. Additionally, a 10% random sample of patients with free-text evidence of possible PWS but no code was reviewed. All charts were assessed for PWS using expert review. Diagnostic validity of the Q87.11 code was assessed at both the individual level (i.e., using a single diagnostic code at any point in the EHR to define the patient as having PWS) and encounter level (looking at coding behaviour for individual inpatient or outpatient episodes of care) using sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV). RESULTS:Of 2 718 218 patients with ≥ 4 recorded encounters, 126 had at least one Q87.11 code; 122 were confirmed to have PWS by chart review. This yielded a PPV of 96.8% (95% CI: 92.0%-99.1%). Full-chart review of patients with text evidence of PWS but no code estimated a code sensitivity of 92.4% (95% CI: 68.9%-100%) and specificity and NPV of 100%. On a per-encounter basis, sensitivity was 79.4% (95% CI: 62.6%-91.1%) for inpatient and 46.0% (95% CI: 44.1%-47.9%) for outpatient visits. CONCLUSIONS:A single use of the Q87.11 diagnostic code produces excellent sensitivity, specificity, PPV and NPV for identifying patients with PWS, although sensitivity is lower for individual outpatient encounters compared with inpatient ones. The overall accuracy of the Q87.11 code supports the validity of using this code in the analysis of administrative claims datasets.
BACKGROUND:Down syndrome (DS) youth have an increased risk of metabolic syndrome (MetS). This study assessed the diagnostic performance of the triglyceride-glucose index (TyG) and its derivatives-TyG-BMI, TyG-waist circumference (WC) and TyG-waist-to-height ratio (WHtR) in detecting MetS compared with traditional markers. METHODS:We retrospectively analysed data from 60 DS patients and 40 controls; IR was estimated using HOMA-IR, TyG, TyG-BMI, TyG-WC and TyG-WHtR indices. MetS was defined by the presence of at least three of the following criteria: BMI z-score ≥ 2 SD and/or WC/H ratio ≥ 0.5; fasting glucose > 100 mg/dL and/or pathological HOMA-IR; dyslipidaemia; hypertension. RESULTS:MetS prevalence was 15% in DS. HOMA-IR showed the highest sensitivity (0.667) and specificity (0.80) to detect MetS, while TyG demonstrated similar performance (sensitivity 0.667; specificity 0.843) and the best overall accuracy (0.817). Composite indices showed moderate accuracy but high specificity. CONCLUSIONS:TyG, being simple and cost-effective, may be a valuable alternative for early MetS detection in DS.
BACKGROUND:Individuals with intellectual disabilities (ID) are at an increased risk of developing dementia. Early detection is essential for providing appropriate support, yet identifying dementia-related changes is challenging due to pre-existing cognitive impairments. Informant-based adapted tools have been developed to support dementia screening in individuals with ID. Among those, the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) aims to assess behavioural and functional changes related to dementia. This study aimed to examine the associations between the DSQIID total scores, cognitive performance and demographic characteristics of adults with ID. METHOD:This cross-sectional study included 322 individuals with ID (n Down syndrome [DS] = 55; n non-DS ID = 267). Behavioural and functional changes were assessed using the DSQIID, whereas cognitive functioning was measured with the Test for Severe Impairment (TSI), Brief Praxis Test (BPT) and a semantic verbal fluency task. Negative binomial regression analyses were conducted to explore associations between DSQIID total scores and selected demographic and cognitive variables. RESULTS:Age was significantly associated with behavioural dementia-related changes, as assessed by the DSQIID, whereas ID severity was not associated. Results further showed that participants with DS had significantly higher scores on the DSQIID compared to participants with ID without DS. Higher DSQIID scores were significantly associated with higher semantic verbal fluency performance. CONCLUSIONS:Our findings suggest that caregivers may more readily detect behavioural and functional changes in adults with ID who exhibit relatively good verbal capacities. This study underscores the elevated risk of dementia in adults with DS and highlights the importance of supporting caregivers in recognizing early signs of dementia in adults with ID who exhibit lower verbal capacities. The findings underscore the importance of monitoring behavioural, functional and cognitive changes over time. Further research is needed to explore the associations between reported dementia-related changes and the severity of ID.
BACKGROUND:Individuals with Down syndrome (DS) face a high burden of health complications, yet the molecular underpinnings remain incompletely defined. OBJECTIVE:The objective of this study is to systematically identify metabolomic changes in individuals with DS and how they relate to DS-associated conditions. METHODS: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. RESULTS: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. CONCLUSION: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.
BACKGROUND: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. METHODS: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. RESULTS: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. CONCLUSIONS: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.
