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Using UNICEF's Early Child Development Index 2030 to Identify Young Children With Significant Cognitive Delay 使用联合国儿童基金会的《2030年早期儿童发展指数》来识别有显著认知迟缓的幼儿。
IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-04-24 DOI: 10.1111/jir.13245
Eric Emerson, Gwynnyth Llewellyn

Background

To help redress the global bias of intellectual disability research drawing on high-income countries, previous studies have used data from UNICEF's Early Child Development Index (ECDI) to create an indicator of Significant Cognitive Delay (SCD) in young children. Recently, UNICEF have replaced the ECDI with an updated 20-item version; the ECDI2030. Our aim was to investigate the utility of using ECDI2030 data to provide a more robust measure of SCD.

Method

We conducted secondary analysis of ECDI2030 data on 92 506 2–4-year-old children from 23 nationally representative surveys undertaken primarily in the world's poorer countries.

Results

The 11 learning items of the ECDI2030 showed good internal consistency overall and in each of the participating countries. Using age-specific cut-points for SCD generated from 20 013 children in nine countries with high Human Development Index (HDI) scores produced country-level estimates of the prevalence of SCD that ranged from 1.1% to 34.1%. These prevalence estimates showed a strong relationship with both country HDI score and national wealth. Increased within country risk of SCD was independently associated with male gender, lower relative household wealth, lower level of maternal education and non-enrolment in early childhood educational programmes. Comparison with SCD based on the older ECDI indicated that the two versions correlated very highly, although the newer version produced slightly higher prevalence estimates than the previous version.

Conclusion

The ECDI2030 is being used in Round 7 of UNICEF's Multiple Indicator Cluster Surveys which are currently underway in 46 countries and in a growing number of USAID funded Demographic Health Surveys. Individual-level data from surveys are freely available to researchers. As data from these surveys begin to be released, they will provide a highly cost-efficient way to redress the current bias in intellectual and developmental disabilities research toward high-income countries and to understand the of children at risk of intellectual disability or global developmental delay in the world's poorer countries.

背景:为了帮助纠正高收入国家智力残疾研究的全球偏见,之前的研究使用了联合国儿童基金会早期儿童发展指数(ECDI)的数据来创建幼儿显著认知延迟(SCD)的指标。最近,儿童基金会用更新的20个项目的版本取代了经济发展指标;ECDI2030。我们的目的是研究使用ECDI2030数据的效用,以提供更可靠的SCD测量方法。方法:我们对来自23个主要在世界较贫穷国家进行的具有全国代表性的调查的92 506名2-4岁儿童的ECDI2030数据进行了二次分析。结果:ECDI2030的11个学习项目在总体和各参与国均表现出良好的内部一致性。利用来自9个人类发展指数(HDI)得分较高的国家的2013名儿童的SCD年龄特异性切割点,得出了SCD患病率的国家水平估计,范围从1.1%到34.1%。这些流行率估计值显示了与国家人类发展指数得分和国民财富的密切关系。国内SCD风险的增加与男性性别、较低的相对家庭财富、较低的母亲教育水平和未参加幼儿教育计划独立相关。与基于旧ECDI的SCD比较表明,两种版本的相关性非常高,尽管新版本的患病率估计略高于旧版本。结论:联合国儿童基金会目前正在46个国家进行的第七轮多指标类集调查以及美国国际开发署资助的越来越多的人口健康调查正在使用《2030年可持续发展目标》。研究人员可以免费获得来自调查的个人层面数据。随着这些调查的数据开始公布,它们将提供一种极具成本效益的方法,以纠正目前智力和发育障碍研究对高收入国家的偏见,并了解世界上较贫穷国家面临智力残疾或全球发育迟缓风险的儿童的情况。
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引用次数: 0
Shorter Telomeres and Faster Telomere Attrition in Individuals With Five Syndromic Forms of Intellectual Disability: A Systematic Review and Meta-Analysis 五种智力残疾综合征形式的个体端粒缩短和端粒磨损加快:一项系统综述和荟萃分析。
IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-04-24 DOI: 10.1111/jir.13244
Sarah M. Hanley, Nicola S. Schutte, Jessica Bellamy, Joshua Denham

Background

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.

Methods

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.

Results

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.

Conclusions

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.

背景:与一般人群相比,由于适应性功能限制、慢性病发病率高和寿命缩短,智力残疾者面临着复杂的挑战。端粒缩短是衰老的标志,而短端粒与神经系统疾病有关。本系统综述和荟萃分析的主要目的是确定智力残疾者和对照组白细胞和成纤维细胞端粒长度和端粒磨损率的差异。方法:检索PubMed、Scopus和ScienceDirect。将智力残疾个体的端粒长度与明显健康的年龄相匹配的对照进行比较的文章被纳入其中。使用AXIS工具评估偏倚风险,使用CMA分析数据。结果:由17项比较组成的15项研究提供了数据,并被纳入meta分析。与健康对照组(N = 481)相比,患有已知遗传综合征(Cri du chat, Down, Hoyeraal-Hreidarsson, Williams或Nicolaides-Baraitser)的智力残疾者(N = 366)的白细胞端粒较短(SMD: -0.853 [95% CI: -1.622至-0.084],p = 0.03)。同样,与对照组(N = 16)相比,综合征型智力残疾患者(N = 21)的成纤维细胞端粒较短(-1.389[-2.179至-0.599],p = 0.001)。此外,患有智力残疾综合症的人端粒缩短的速度也更快(2.09倍)。结论:与流行病学关于死亡率和发病率风险的调查结果一致,综合征型智力残疾者似乎比一般人群经历更快的生物衰老速度。这些发现强调了健康的老年生活方式(即运动和压力管理)和对综合征型智力残疾患者的治疗干预的必要性。
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引用次数: 0
Description of Common Ailments and Nonprescription Medications Found in Medication Reviews for People With Intellectual Disability 在智障人士的药物评论中发现的常见疾病和非处方药的描述。
IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-04-24 DOI: 10.1111/jir.13243
Chelsea Felkai, Jamie-Lee Carew, David Newby, Hayley Croft

Background

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.

Aims

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.

Method

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.

Results

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.

Conclusion

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.

背景:智障人士(ID)更容易经历轻微的健康问题。这项研究描述了在澳大利亚有资格的药剂师进行药物审查的ID患者中发现的常见疾病和非处方药。目的:本研究的目的是(i)描述ID患者中发现的常见疾病(ii)识别和量化ID患者药物评论中记录的非处方药。方法:本研究对2020年1月至2024年1月期间为一名ID患者进行药物审查的执业药师的药物审查报告和推荐进行回顾性分析。结果:共获得应答报告80份。有身份证的人的平均年龄是52岁。平均而言,每个药物评论列出6.6种常见疾病和8.0种非处方药。个人服用非处方药的最高数量是26种。结论:这项研究是第一个通过药物审查专门检查ID患者的常见病和非处方药的研究。研究结果显示,与其他类似人群相比,该人群中常见疾病和非处方药的使用可能较高,非处方药的使用也明显较多,需要进一步的研究来证实这一研究结果。
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引用次数: 0
Inequalities of the Waiting Time for Education Health and Care Plan Provision for Pupils With Intellectual Developmental Disabilities: A Brief Report 智力发育障碍学生申请教育、保健和护理计划的等待时间不平等:一份简短报告。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-04-23 DOI: 10.1111/jir.13239
Irene O. Lee, Jeanne Wolstencroft, Harriet Housby, Marianne B. M. van den Bree, Samuel J. R. A. Chawner, Jeremy Hall, Michael J. Owen, IMAGINE ID Consortium*, David H. Skuse
<div> <section> <h3> Background</h3> <p>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> </section> <section> <h3> Methods</h3> <p>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> </section> <section> <h3> Results</h3> <p>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> </section> <section> <h3> Conclusions</h
背景:患有智力和发育障碍(IDDs)的儿童和青少年在生活的各个方面都面临挑战,需要大量的支持,特别是在教育领域。在联合王国,教育、保健和护理计划(EHCPs)为学校中有特殊教育需要的人提供支持。在我们的国家教育系统中,idd学生必须等待多长时间才能获得EHCP,但社会人口统计学对这些差异的影响目前尚不清楚。延迟提供EHCP支持会导致负面的教育、福祉和发展结果。使用来自国家小学生数据库(NPD)的数据,我们检查了EHCP提供等待时间的变异性,以及与SEN分类、家庭社会经济地位、居住地区和种族等潜在影响变量的相关性。方法:这项全国性研究招募了2131名与遗传疾病相关的idd患者[6-28岁,平均(SD) = 14.1(4.4)岁]。家长们同意让研究小组审查他们孩子的教育记录。所有参与者在英国接受全日制教育期间都曾接受过EHCP。我们访问了NPD(由英国教育部提供),以了解参与者的主要SEN类型,免费校餐资格,种族和他们获得EHCP的学年的详细信息。根据他们的家庭住址邮编,我们给每个家庭分配了多重剥夺指数(IMD)得分。根据NPD的数据,我们计算了孩子们从推荐EHCP到接受EHCP的等待时间。我们将这些数据与IMD分数、小学SEN类型、免费校餐资格、英语居住地区、种族和性别进行比较。我们使用线性回归模型来检验预测因子(上述人口统计学自变量)与儿童接受EHCP所需时间之间的关系。结果:与儿童SEN类型的NPD分类无关,生活在英格兰社会最贫困地区的遗传病因性IDDs患者等待EHCP支持的时间比生活在最贫困地区的患者更长。孩子的种族和性别都没有额外的影响。无论他们的IMD状态如何,生活在伦敦的参与者比生活在英国其他地方的参与者更快地获得了EHCP。结论:在全国范围内,为已知遗传病因的智力障碍儿童和青少年提供ehcp所需的时间不一致。地方教育当局可获得的资金的地区不平等可能是一个主要因素。
{"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,&nbsp;Jeanne Wolstencroft,&nbsp;Harriet Housby,&nbsp;Marianne B. M. van den Bree,&nbsp;Samuel J. R. A. Chawner,&nbsp;Jeremy Hall,&nbsp;Michael J. Owen,&nbsp;IMAGINE ID Consortium*,&nbsp;David H. Skuse","doi":"10.1111/jir.13239","DOIUrl":"10.1111/jir.13239","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;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.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;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.&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;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.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusions&lt;/h","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 11","pages":"1325-1336"},"PeriodicalIF":2.0,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13239","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Modified Cued Recall Test: Longitudinal Analysis of Test Versions and Item Recall in Adults With Down Syndrome 修正线索回忆测验:唐氏综合症成人测验版本与项目回忆的纵向分析。
IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-04-20 DOI: 10.1111/jir.13237
Emily K. Schworer, Benjamin L. Handen, Sharon Krinsky-McHale, Christy L. Hom, Isabel C. H. Clare, Jordan P. Harp, Margaret B. Pulsifer, Mark Mapstone, Elizabeth Head, Bradley T. Christian, Sigan L. Hartley, the Alzheimer Biomarker Consortium-Down Syndrome

Background

Adults with Down syndrome (DS) have an elevated risk and early age of onset for Alzheimer's disease (AD). To support upcoming clinical AD 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 AD-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 AD clinical status.

Method

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 AD status (cognitively stable [CS], mild cognitive impairment [MCI] or AD dementia) and premorbid level of intellectual disability (ID).

Results

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 AD 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 AD dementia diagnosis (3.36 and 4.20 points/year, respectively).

Conclusion

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

背景:患有唐氏综合征(DS)的成人患阿尔茨海默病(AD)的风险升高且发病年龄早。为了支持即将进行的阿尔茨海默病临床试验,迫切需要建立可用于捕捉干预效果的认知结果测量方法。一种被成功用于检测ad相关认知衰退的方法是对情景记忆的测量,即改进的线索回忆测试(mCRT)。mCRT的实用性值得进一步研究A和B版本的比较,自由回忆和提示回忆以及性能随时间的变化,以更好地了解基于年龄和AD临床状态的跟踪记忆衰退的敏感性。方法:研究对象为272例25 ~ 81岁的成人退行性痴呆患者(平均年龄43.12岁,SD = 9.79)。研究过程分为三个数据收集周期:基线、16个月随访和32个月随访。参与者被纳入阿尔茨海默生物标志物联盟-唐氏综合症纵向研究,并完成mCRT作为多日评估的一部分。比较了A版和B版mCRT在回忆和入侵得分上的差异。参与者的自由回忆相对于线索回忆的比率也在基线和纵向上进行了检查。参与者的表现按年龄组、临床AD状态(认知稳定[CS]、轻度认知障碍[MCI]或AD痴呆)和病前智力残疾(ID)水平进行比较。结果:存在版本差异,以中度和重度/深度ID组差异最显著。CS参与者的无mccrt回忆随年龄的增长而下降。MCI和AD痴呆患者的自由回忆和提示回忆得分较低,但轻度ID MCI组除外,其提示回忆得分与CS组无显著差异。从≥50岁开始的CS参与者在32个月内观察到下降(mCRT总分下降1.29分/年),患有MCI或AD痴呆诊断的成人DS患者下降更为明显(分别为3.36分和4.20分/年)。结论:表征测试版本差异以及参与者在mCRT上的自由回忆和提示回忆表现对于理解测试条件下的表现以及最大限度地提高临床干预的敏感性以获得有意义的效果非常重要。我们的研究结果表明,临床AD试验对退行性椎体滑移应谨慎使用两种版本的mCRT。检查自由相对于线索回忆的特征可以提高在发病前ID水平范围内检测成人DS治疗益处的敏感性。
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引用次数: 0
Brief Report: Evaluating the Impact of Behavioural Concerns in Individuals With Intellectual or Developmental Disabilities 简要报告:评估行为关注对智力或发育障碍个体的影响。
IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-04-14 DOI: 10.1111/jir.13240
Mindy Scheithauer, Fabiola Vargas Londono, Brittany Naugle, Angelia Walker, Jennifer M. Hodnett, Joanna Lomas Mevers, Colin Muething, Nathan Call

Background

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.

Methods

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.

Results

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%).

Conclusions

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.

背景:行为问题,如攻击和自残,在有智力和发育障碍的青少年中很常见。需要进一步的研究来进一步探索这些类型的行为影响个人及其家庭的具体方式。方法:为孩子的行为问题寻求治疗的照顾者完成了一项关于孩子行为的负面影响的访谈,涉及(a)对自己或他人的身体伤害,(b)财产损失,(c)结构修改,(d)情境回避和(e)反应性措施。我们回顾了这些访谈的结果,以报告该临床样本中各种负面影响的患病率。结果:大多数护理人员报告了至少一些身体伤害(72.99%),财产损失(63.99%)和预防措施,如避免移除喜欢的物品或活动(72.35%)。一些护理人员认为有严重的负面影响,例如需要紧急服务(10.61%)或住宿安排(5.14%)。结论:护理人员在这个临床样本一致认可负面影响造成的行为担忧。这些信息对于倡导为高需求人群提供额外服务至关重要,用于收集这些信息的访谈可能是指导未来研究和临床工作的有用工具。
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引用次数: 0
Assessment of Cardiometabolic Risk Factors in Children With Down Syndrome With Normal Weight: A Comparative Study Against a Non–Down Syndrome Cohort 体重正常的唐氏综合征儿童心脏代谢危险因素评估:与非唐氏综合征队列的比较研究
IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-04-13 DOI: 10.1111/jir.13241
Kenia Esparza Ocampo, Wendy Gastélum Espinoza, Carla Angulo Rojo, Alma Guadrón Llanos, Silvia Aguirre Villalobos, Josué Camberos Barraza, Alberto Kousuke De la Herran-Arita, Javier Magaña Gomez

Background

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.

Methods

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.

Results

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, p < 0.000), TG (125.2 ± 42.5 mg/dL vs. 86.5 ± 54.1 mg/dL, p < 0.005) and LDL-C (108.1 ± 40.8 mg/dL vs. 120.8 ± 53.5 mg/dL, p = 0.373), while HDL-C was lower (46.3 ± 12.3 mg/dL vs. 54.7 ± 11.8 mg/dL, p = 0.008) compared with the control group.

Conclusion

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.

背景:唐氏综合症(DS)是最常见的导致智力残疾的染色体异常。据估计,流行率为每1万例分娩6.1-13.1例。虽然这一人口的预期寿命已从1983年的25岁增加到2020年的60岁,但其质量可能因疾病的发展而受到损害。然而,它也开启了在退行性痴呆患者中开展大量心血管风险研究的可能性。这包括比较体重正常的DS患儿和年龄和性别匹配的无DS患儿之间的生化心脏代谢危险因素,包括总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C)。方法:在父母同意的情况下,25名DS患儿和30名年龄匹配的对照组(8-12岁)参与了这项横断面研究。身体质量指数(BMI)由人体测量评估计算,葡萄糖和脂质谱由获得的血液样本测量。结果:根据世界卫生组织BMI标准,两组患者体重均正常。DS组的TC(179.4±50.4 mg/dL vs. 120.7±31.6 mg/dL)更高,p结论:本研究提示,与一般人群相比,与体重无关,DS患儿的心脏代谢危险因素患病率更高,强调了研究DS人群中独立于体重的血脂异常的重要性。
{"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}
引用次数: 0
Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait 脆性X综合征儿童在步态过程中表现出向快速纤维招募策略的转变。
IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-04-08 DOI: 10.1111/jir.13238
Fabiola Spolaor, Federica Beghetti, Weronika Piatkowska, Annamaria Guiotto, Roberta Polli, Elisa Bettella, Valentina Liani, Elisa di Giorgio, Zimi Sawacha

Background

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.

Methods

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.

Results

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 (p < 0.05).

Conclusions

This increased reliance on fast-twitch fibres may contribute to the observed fatigability and exercise intolerance in FXS children.

背景:脆性 X 综合征(FXS)是一种遗传性疾病,由缺乏 FMRP 引起,FMRP 是一种对大脑发育和功能至关重要的蛋白质。FMR1突变分为预突变和全突变(FXSFull),体细胞镶嵌(FXSMos)会改变FXS的表型。最近的研究发现,FXS 儿童在步态过程中的肌肉活动发生了改变。本研究旨在探讨这些肌肉活动变化与 FXS 儿童步态过程中运动纤维招募策略之间的关系:方法:54 名 FXS 儿童和 14 名健康对照者参加了研究。使用四台同步摄像机和表面肌电图系统记录了自选速度下的步态试验,该系统捕捉了腓肠肌外侧、胫骨前肌、直肌和股二头肌的双侧活动。使用 "凹凸 "母小波的连续小波变换提供了信号能量在九个频段(在 450 到 10Hz 的频谱内以 50Hz 为增量)的百分比分布以及瞬时平均频率(IMNF)的时频分布:结果表明,与对照组相比,FXSFull 和 FXSMos 儿童均表现出独特的纤维招募策略,总能量百分比更高,IMNF(p 结论:FXSFull 和 FXSMos 儿童对快速肌纤维的依赖性增加:FXS儿童对快速肌动纤维的依赖性增加,这可能是导致其易疲劳和运动不耐受的原因之一。
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引用次数: 0
Feasibility and Preliminary Efficacy of an Executive Function Intervention for Young Children With Down Syndrome 幼儿唐氏综合症执行功能干预的可行性及初步疗效。
IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-04-06 DOI: 10.1111/jir.13234
Miranda E. Pinks, Madison M. Walsh, Sara Colaianni, Sara Onnivello, Chiara Marcolin, Sarah Looney, Elisa Rossi, Francesca Pulina, Mark A. Prince, Nathaniel R. Riggs, Susan Hepburn, Lisa A. Daunhauer, Van Deusen Kaylyn, Silvia Lanfranchi, Deborah J. Fidler

Background

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).

Method

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.

Results

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.

Conclusions

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.

背景:唐氏综合征(DS)患者一生中执行功能(EF)面临挑战的可能性较高,在儿童早期加强这些基础的综合征知情干预方法可能是有益的。这项单组基线与干预后试点研究展示了一项基于综合征的、父母介导的干预的实施结果,该干预旨在支持学龄前DS儿童EF的发展(EXPO:执行功能游戏机会)。方法:研究对象为34名3 ~ 7岁的退行性痴呆患儿及其照顾者。所有样本都参加了一项为期12周的新颖的父母干预,重点是建立工作记忆、抑制控制、认知灵活性和计划技能。在基线和研究后对参与者进行可行性结果和干预效果的初步证据评估。结果:本研究的活动是可行的,适合家庭实施,适合被试的发育范围。通过基于实验室的EF结果测量观察到疗效的初步证据。对干预反应的样本内异质性也被观察到。结论:EXPO以目前的形式进行更大规模的试验是可行的。通过解决幼儿退行性痴呆表现的异质性,额外的干预措施修改可能进一步增加EXPO的潜在影响。
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引用次数: 0
Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy CTNNB1综合征患者的认知和适应功能:与自闭症谱系障碍和脑瘫的比较
IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-03-27 DOI: 10.1111/jir.13235
Mercè Pallarès-Sastre, Imanol Amayra, Rafael Pulido, Caroline E. Nunes-Xavier, Sonia Bañuelos, Fabio Cavaliere, Maitane García

Background

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.

Methods

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.

Results

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.

Conclusions

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.

背景:CTNNB1综合征是一种被认为是超罕见疾病的神经发育障碍,于2012年首次发现。考虑到其症状与更普遍的疾病(如ASD或CP)的合并症,许多CTNNB1综合征患者以前曾接受过这些诊断。因此,本研究的目的是确定CTNNB1综合征与ASD和cp相比在认知和适应功能方面的差异。方法:共55例儿科患者(25例CTNNB1综合征,17例ASD和13例pc)通过面对面评估和在线会议进行广泛的神经心理学领域评估。结果:尽管CTNNB1综合征患者在视觉空间和逻辑任务中得分明显较低,但在言语任务中没有发现认知差异。在适应功能方面,ASD患者在大多数领域的表现优于CTNNB1综合征组,而CP患者的差异并不大,只是在大运动能力方面得分较低。与对照组相比,外化问题在CTNNB1综合征组中更为普遍。此外,相关性表明多年来CTNNB1综合征患者的认知和适应功能有所改善。结论:本研究首次比较了CTNNB1综合征与对照疾病患者的认知和适应功能,并发现有显著差异。尽管智力残疾是CTNNB1综合征的主要表现之一,但患者在言语认知任务中的表现优于视觉空间和逻辑思维练习,而适应功能的表现与对照组没有差异。
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引用次数: 0
期刊
Journal of Intellectual Disability Research
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