Journal of Intellectual Disability Research最新文献

{"title":"Shorter Telomeres and Faster Telomere Attrition in Individuals With Five Syndromic Forms of Intellectual Disability: A Systematic Review and Meta-Analysis.","authors":"Sarah M Hanley, Nicola S Schutte, Jessica Bellamy, Joshua Denham","doi":"10.1111/jir.13244","DOIUrl":"https://doi.org/10.1111/jir.13244","url":null,"abstract":"<p><strong>Background: </strong>People with intellectual disability suffer complex challenges due to adaptive functioning limitations, high rates of chronic diseases and shortened lifespans compared with the general population. Telomere shortening is a hallmark of ageing, and short telomeres are linked to neurological disorders. The main objective of this systematic review and meta-analysis was to identify any differences in telomere length and the rate of telomere attrition in leukocytes and fibroblasts from people with intellectual disability and controls.</p><p><strong>Methods: </strong>PubMed, Scopus and ScienceDirect were searched. Articles that compared telomere length in individuals with intellectual disability to apparently healthy age-matched controls were included. Risk of bias was assessed using the AXIS tool and data were analysed using CMA.</p><p><strong>Results: </strong>Fifteen studies comprised of 17 comparisons provided data and were included in meta-analyses. Compared with healthy controls (N = 481), people with intellectual disability (N = 366) from a known genetic syndrome (Cri du chat, Down, Hoyeraal-Hreidarsson, Williams or Nicolaides-Baraitser) possessed shorter leukocyte telomeres (SMD: -0.853 [95% CI: -1.622 to -0.084], p = 0.03). Similarly, relative to controls (N = 16), people with syndromic intellectual disability (N = 21) possessed shorter fibroblast telomeres (-1.389 [-2.179 to -0.599], p = 0.001). Furthermore, people with syndromic forms of intellectual disability also demonstrated a faster rate (2.09-fold) of telomere shortening.</p><p><strong>Conclusions: </strong>Consistent with epidemiological findings on mortality and morbidity risk, people with syndromic intellectual disability appear to undergo a faster rate of biological ageing compared to the general population. These findings emphasise the need for healthy ageing lifestyle (i.e., exercise and stress management) and therapeutic interventions for people with syndromic intellectual disability.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988493","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":"Description of Common Ailments and Nonprescription Medications Found in Medication Reviews for People With Intellectual Disability","authors":"Chelsea Felkai,&nbsp;Jamie-Lee Carew,&nbsp;David Newby,&nbsp;Hayley Croft","doi":"10.1111/jir.13243","DOIUrl":"10.1111/jir.13243","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>People with intellectual disability (ID) are more susceptible to experiencing minor health issues. This research describes the common ailments and nonprescription medications found in people with ID who have had a medication review performed by a credentialed pharmacist in Australia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>The aims of this research were to (i) describe the common ailments found within people with ID and (ii) identify and quantify the nonprescription medications documented in medication reviews for people with ID.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>This research conducted a retrospective analysis of medication review reports and referrals from credentialed pharmacists who have performed a medication review for a person with ID between January 2020 and January 2024.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 80 responses and reports were obtained. The average age of the person with ID was 52 years. On average, each medication review listed 6.6 common ailments and 8.0 nonprescription medications. The highest number of nonprescription medications listed for a single individual was 26.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This research is the first to exclusively examine common ailments and nonprescription medications found in people with ID through medication reviews. Further research is needed to confirm study findings revealing a potentially high occurrence of common ailments and nonprescription medication use in this population compared to other similar populations and notable polypharmacy for nonprescription medications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 7","pages":"613-620"},"PeriodicalIF":2.1,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13243","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996311","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":"Inequalities of the Waiting Time for Education Health and Care Plan Provision for Pupils With Intellectual Developmental Disabilities: A Brief Report.","authors":"Irene O Lee, Jeanne Wolstencroft, Harriet Housby, Marianne B M van den Bree, Samuel J R A Chawner, Jeremy Hall, Michael J Owen, David H Skuse","doi":"10.1111/jir.13239","DOIUrl":"https://doi.org/10.1111/jir.13239","url":null,"abstract":"<p><strong>Background: </strong>Children and young people with intellectual and developmental disabilities (IDDs) face challenges across various aspects of their lives and require significant support, particularly in the field of education. In the United Kingdom, Education, Health and Care Plans (EHCPs) support those with special educational needs (SEN) in schools. Disparities exist throughout our national educational system with respect to how long pupils with IDDs must wait for an EHCP, but the socio-demographic influences on those disparities are currently unknown. Delays in providing EHCP support result in negative educational, wellbeing and developmental outcomes. Using data from the National Pupil Database (NPD), we examined variabilities in waiting times for EHCP provision, and correlations with potentially influential variables such as SEN classification, family socio-economic status, region of domicile and ethnicity.</p><p><strong>Methods: </strong>This national study recruited 2131 participants [6-28 years old, mean (SD) = 14.1 (4.4) years] with IDDs associated with a genetic condition. Families gave consent for their child's educational records to be reviewed by the research team. All participants had received an EHCP at some point during their full-time education in England. We accessed the NPD (provided by the UK Department for Education), for details of participants' primary SEN type, free school meal eligibility, ethnicity and the academic year in which they received an EHCP. Based on their home address postcode, we assigned to each family an index of multiple deprivation (IMD) score. From the NPD, we calculated the waiting time between a child's recommendation for an EHCP and the time they received it. We compared these data with IMD scores, primary SEN type, free school meal eligibility, English region of domicile, ethnicity, and sex. We used linear regression models to examine the associations between the predictors (the above demographic independent variables) and the duration of time it took for children to receive an EHCP.</p><p><strong>Results: </strong>Participants with IDDs of genetic aetiology who lived in the most socially deprived regions of England waited longer for EHCP support than those in the least deprived regions, irrespective of the NPD classification of the child's SEN type. Neither the child's ethnicity nor their sex had any added impact. Whatever their IMD status, participants living in London obtained an EHCP more quickly than those living elsewhere in England.</p><p><strong>Conclusions: </strong>There are nationwide inconsistencies in the time taken to provide EHCPs to children and young people whose intellectual impairments are of known genetic aetiology. Regional inequalities in the funds available to local education authorities could be a major contributory factor.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015374","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":"Modified Cued Recall Test: Longitudinal Analysis of Test Versions and Item Recall in Adults With Down Syndrome","authors":"Emily K. Schworer,&nbsp;Benjamin L. Handen,&nbsp;Sharon Krinsky-McHale,&nbsp;Christy L. Hom,&nbsp;Isabel C. H. Clare,&nbsp;Jordan P. Harp,&nbsp;Margaret B. Pulsifer,&nbsp;Mark Mapstone,&nbsp;Elizabeth Head,&nbsp;Bradley T. Christian,&nbsp;Sigan L. Hartley,&nbsp;the Alzheimer Biomarker Consortium-Down Syndrome","doi":"10.1111/jir.13237","DOIUrl":"10.1111/jir.13237","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Adults with Down syndrome (DS) have an elevated risk and early age of onset for Alzheimer's disease (&lt;span&gt;AD&lt;/span&gt;). To support upcoming clinical &lt;span&gt;AD&lt;/span&gt; trials, there is a critical need to establish cognitive outcome measures that can be used to capture intervention effects. One measure that has successfully been used to detect &lt;span&gt;AD&lt;/span&gt;-related cognitive decline in the DS population is a measure of episodic memory, the modified Cued Recall Test (mCRT). Demonstrated utility of the mCRT warrants further investigation into comparisons between the A and B versions, free versus cued recall and changes in performance over time to better understand sensitivity for tracking memory decline over time based on age and &lt;span&gt;AD&lt;/span&gt; clinical status.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Method&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Participants were 272 adults with DS aged 25–81 (mean age = 43.12 years, SD = 9.79). Study procedures were completed at three cycles of data collection: baseline, 16-month follow-up and 32-month follow-up. Participants were enrolled in the Alzheimer Biomarker Consortium–Down Syndrome longitudinal study and completed the mCRT as part of a multiday evaluation. Comparisons were made between the A and B versions of the mCRT in recall and intrusion scores. Participants' ratio of free relative to cued recall was also examined at baseline and longitudinally. Participant performance was compared by age group, clinical &lt;span&gt;AD&lt;/span&gt; status (cognitively stable [CS], mild cognitive impairment [MCI] or &lt;span&gt;AD&lt;/span&gt; dementia) and premorbid level of intellectual disability (ID).&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Version differences were identified, with the most salient differences in the moderate and severe/profound ID groups. The mCRT free recall declined with age in CS participants. Free and cued recall scores were lower in those with MCI and &lt;span&gt;AD&lt;/span&gt; dementia, with the exception of the mild ID MCI group, whose cued recall scores were not significantly different from the CS group. Decline across 32 months (mCRT total score decline of 1.29 points/year) was observed for CS participants beginning at ≥ 50 years old, with more pronounced declines in adults with DS with an MCI or &lt;span&gt;AD&lt;/span&gt; dementia diagnosis (3.36 and 4.20 points/year, respectively).&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusion&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Characterising test version differences and participant free versus cued recall performance on the mCRT is important for understanding performance under testing conditions and to maximise the sensitivity of clinical interventions to capture meaningful effects. Our findings suggest that c","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 7","pages":"569-581"},"PeriodicalIF":2.1,"publicationDate":"2025-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004890","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":"Brief Report: Evaluating the Impact of Behavioural Concerns in Individuals With Intellectual or Developmental Disabilities.","authors":"Mindy Scheithauer, Fabiola Vargas Londono, Brittany Naugle, Angelia Walker, Jennifer M Hodnett, Joanna Lomas Mevers, Colin Muething, Nathan Call","doi":"10.1111/jir.13240","DOIUrl":"https://doi.org/10.1111/jir.13240","url":null,"abstract":"<p><strong>Background: </strong>Behavioural concerns, such as aggression and self-injury, are common among youth with intellectual and developmental disabilities. Additional research is needed to further explore the specific ways in which these types of behaviour impact individuals and their families.</p><p><strong>Methods: </strong>Caregivers seeking treatment for their child's behavioural concerns completed an interview regarding the negative impact of their child's behaviour related to (a) physical harm to self or others, (b) property damage, (c) structural modifications, (d) situational avoidance and (e) reactive measures. We reviewed outcomes of these interviews to report on the prevalence of various negative impacts in this clinical sample.</p><p><strong>Results: </strong>Most caregivers reported at least some physical harm (72.99%), property damage (63.99%) and preventative measures such as avoiding removing preferred items or activities (72.35%). Some caregivers endorsed severe negative impacts, such as the need for emergency services (10.61%) or residential placements (5.14%).</p><p><strong>Conclusions: </strong>Caregivers in this clinical sample consistently endorsed negative impacts resulting from behavioural concerns. This information is crucial in advocating for additional services for this high-need population, and the interview used to gather this information may be a helpful tool to guide future research and clinical work.</p>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986142","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":"Assessment of Cardiometabolic Risk Factors in Children With Down Syndrome With Normal Weight: A Comparative Study Against a Non–Down Syndrome Cohort","authors":"Kenia Esparza Ocampo,&nbsp;Wendy Gastélum Espinoza,&nbsp;Carla Angulo Rojo,&nbsp;Alma Guadrón Llanos,&nbsp;Silvia Aguirre Villalobos,&nbsp;Josué Camberos Barraza,&nbsp;Alberto Kousuke De la Herran-Arita,&nbsp;Javier Magaña Gomez","doi":"10.1111/jir.13241","DOIUrl":"10.1111/jir.13241","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Down syndrome (DS) stands as the most frequent chromosomal abnormality leading to intellectual disability. A prevalence rate of 6.1–13.1 per 10 000 births has been estimated. Although life expectancy has been increasing from 25 years in 1983 to 60 years in 2020 in this population, their quality may be impaired by the development of diseases. However, it has also opened the possibility of carrying out a significant number of cardiovascular risk studies in DS. This includes comparisons of biochemical cardiometabolic risk factors, including total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C), between normal-weight children with DS and age- and gender-matched children without DS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this cross-sectional study, with parental consent, 25 children with DS and 30 age-matched controls (8–12 years old) participated. Body mass index (BMI) was calculated from anthropometric assessments, while glucose and lipid profiles were measured from the obtained blood samples.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>According to the World Health Organization BMI criteria, all individuals from both groups had normal weight. The DS group exhibited higher TC (179.4 ± 50.4 mg/dL vs. 120.7 ± 31.6 mg/dL, <i>p</i> &lt; 0.000), TG (125.2 ± 42.5 mg/dL vs. 86.5 ± 54.1 mg/dL, <i>p</i> &lt; 0.005) and LDL-C (108.1 ± 40.8 mg/dL vs. 120.8 ± 53.5 mg/dL, <i>p</i> = 0.373), while HDL-C was lower (46.3 ± 12.3 mg/dL vs. 54.7 ± 11.8 mg/dL, <i>p</i> = 0.008) compared with the control group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The present study suggests that children with DS have a higher prevalence of cardiometabolic risk factors compared with the general population, regardless of weight, highlighting the importance of studying dyslipidaemias in the DS population independently of body weight.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 7","pages":"605-612"},"PeriodicalIF":2.1,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004791","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":"Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait","authors":"Fabiola Spolaor,&nbsp;Federica Beghetti,&nbsp;Weronika Piatkowska,&nbsp;Annamaria Guiotto,&nbsp;Roberta Polli,&nbsp;Elisa Bettella,&nbsp;Valentina Liani,&nbsp;Elisa di Giorgio,&nbsp;Zimi Sawacha","doi":"10.1111/jir.13238","DOIUrl":"10.1111/jir.13238","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Fragile X Syndrome (FXS) is a genetic disorder caused by the lack of FMRP, a crucial protein for brain development and function. FMR1 mutations are categorized into premutation and full mutation (FXSFull), with somatic mosaicism (FXSMos) modulating the FXS phenotype. Recent studies identified muscle activity alterations during gait in FXS children. This study aims to explore the relationship between these muscle activity changes and motor fibre recruitment strategies during gait in FXS children.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Fifty-four FXS children and fourteen healthy controls participated in the study. Gait trials at self-selected speeds were recorded using four synchronized cameras and a surface electromyography system that captured bilateral activity of Gastrocnemius lateralis, Tibialis anterior, Rectus and Biceps femoris muscles. The continuous wavelet transform, using the ‘bump’ mother wavelet, provided the percentage distribution of signal energy across nine frequency bands (50-Hz increments within a 450- to 10-Hz spectrum) and the Instantaneous MeaN Frequency (IMNF) time-frequency distribution.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Results indicated that both FXSFull and FXSMos children exhibit a distinct fibre recruitment strategy compared to controls, with a higher percentage of total energy and elevated IMNF (<i>p</i> &lt; 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This increased reliance on fast-twitch fibres may contribute to the observed fatigability and exercise intolerance in FXS children.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 7","pages":"582-591"},"PeriodicalIF":2.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13238","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803549","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":"Feasibility and Preliminary Efficacy of an Executive Function Intervention for Young Children With Down Syndrome","authors":"Miranda E. Pinks,&nbsp;Madison M. Walsh,&nbsp;Sara Colaianni,&nbsp;Sara Onnivello,&nbsp;Chiara Marcolin,&nbsp;Sarah Looney,&nbsp;Elisa Rossi,&nbsp;Francesca Pulina,&nbsp;Mark A. Prince,&nbsp;Nathaniel R. Riggs,&nbsp;Susan Hepburn,&nbsp;Lisa A. Daunhauer,&nbsp;Van Deusen Kaylyn,&nbsp;Silvia Lanfranchi,&nbsp;Deborah J. Fidler","doi":"10.1111/jir.13234","DOIUrl":"10.1111/jir.13234","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Individuals with Down syndrome (DS) have an elevated likelihood of challenges with executive function (EF) throughout the lifespan, and syndrome-informed intervention approaches that strengthen these foundations during early childhood may be beneficial. This single group baseline versus postintervention pilot study presents findings from the implementation of a syndrome-informed, parent-mediated intervention designed to support the development of EF in preschool-aged children with DS (EXPO: Executive Function Play Opportunities).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Participants were 34 children aged 3–7 years old with DS and their caregivers. The full sample participated in a novel 12-week parent-mediated intervention focused on building working memory, inhibitory control, cognitive flexibility and planning skills. Participants were evaluated at baseline and poststudy for feasibility outcomes and preliminary evidence of intervention efficacy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Activities were feasible for families to implement and appropriate for the developmental range of participants in the study. Preliminary evidence of efficacy was observed via laboratory-based EF outcome measures. Within-sample heterogeneity in response to intervention was also observed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>EXPO is feasible for a larger trial in its current form. Additional intervention modifications may further increase the potential impact of EXPO by addressing heterogeneity in presentations among young children with DS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 7","pages":"546-557"},"PeriodicalIF":2.1,"publicationDate":"2025-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13234","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795640","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":"Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy","authors":"Mercè Pallarès-Sastre,&nbsp;Imanol Amayra,&nbsp;Rafael Pulido,&nbsp;Caroline E. Nunes-Xavier,&nbsp;Sonia Bañuelos,&nbsp;Fabio Cavaliere,&nbsp;Maitane García","doi":"10.1111/jir.13235","DOIUrl":"10.1111/jir.13235","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The CTNNB1 syndrome is a neurodevelopmental disorder considered an ultra-rare disease, first discovered in 2012. Given its comorbidity of symptoms with more prevalent diseases, such as ASD or CP, many CTNNB1 syndrome patients had previously received those diagnosis. Therefore, the aim of this study is to establish differences on the cognitive and adaptive functioning of the CTNNB1 syndrome compared with ASD and CP.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 55 paediatric patients—25 CTNNB1 syndrome, 17 ASD and 13 PC—were assessed with an extensive protocol for neuropsychological domains through in-person assessments and online meetings for the parent-reported questionnaire.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No cognitive differences were found among verbal tasks between groups, even though CTNNB1 syndrome patients obtained significantly lower scores in visuospatial and logical tasks. Regarding adaptive functioning, ASD patients outperformed the CTNNB1 syndrome group in most domains, whereas CP patients did not differ as much, obtaining only lower scores in gross motor ability. Externalizing problems were more prevalent in the CTNNB1 syndrome group compared with the control groups. Also, correlations indicated improvement of cognitive and adaptive functioning over the years for the CTNNB1 syndrome patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This is the first study to compare the cognitive and adaptive functioning of CTNNB1 syndrome patients with control diseases and detect significant difference. Although intellectual disability is one of the main manifestations of the CTNNB1 syndrome, patients performed better on verbal cognitive tasks than in visuospatial and logical thinking exercises, while adaptive functioning performances did not differ from control groups.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 7","pages":"558-568"},"PeriodicalIF":2.1,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13235","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143719842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Effect of SPECTROM Training on Support Staff Knowledge of Psychotropic Medicine and Attitude Towards Behaviours That Challenge in Adults With Intellectual Disabilities to Help Implement the STOMP Initiative","authors":"B. Limbu,&nbsp;S. Deb,&nbsp;J. Bradshaw,&nbsp;V. Cooper","doi":"10.1111/jir.13236","DOIUrl":"10.1111/jir.13236","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Overmedication of adults with intellectual (learning) disabilities, particularly the off-licence use of psychotropic medicines for behaviours that challenge in the absence of a psychiatric disorder, is a major public health concern and an example of health inequalities. In the United Kingdom, we coproduced online training resources backed up by face-to-face training for support staff (direct care workers) called SPECTROM involving all stakeholders, including adults with intellectual disabilities and their families, to help reduce the overmedication and implement NHS England's STOMP initiative.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>In a feasibility cluster randomised controlled trial, we trained service managers and support staff using two core modules of SPECTROM, namely, (a) Medicine/STOMP and (b) Alternatives to Medicine (ATM) using an online platform. These two core modules introduced 12 other modules and other online resources. We assessed trainees' knowledge of psychotropic medicines using the Psychotropic Knowledge Questionnaire-Revised (PKQ-R) and their attitude to behaviours that challenge using the Management of Aggression and Violence Attitude Scale-Revised-Intellectual Disabilities (MAVAS-R-ID) using a pre–post training design.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The research team delivered SPECTROM training to 18 service managers and 122 support staff. Of the 140 trainees, 126 completed PKQ-R at baseline before and within 4 weeks after the training. There was a post-training improvement in PKQ-R scores in 42 of the 43 questions (97.7%), 22 of which were statistically significant differences (<i>p</i> &lt; 0.001). The MAVAS-R-ID was completed at baseline and within 4 weeks of training by 125 trainees. The MAVAS-R-ID total score showed statistically significant post-training improvements (<i>p</i> &lt; 0.01). Individual domain score analysis showed a statistically significant improvement in one of the five domains related to attitude regarding the use of medicine for behaviours that challenge.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The SPECTROM training seems to improve staff knowledge of psychotropic medicine, at least in the short-term, and attitude towards behaviours that challenge, particularly concerning the use of psychotropic medicine.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 7","pages":"630-638"},"PeriodicalIF":2.1,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13236","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143719846","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}