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Healthcare Utilisation and Barriers and Facilitators of Healthcare Access for Young People With Intellectual Disability: A Systematic Review 医疗保健的利用和障碍和促进医疗保健的年轻人与智障:一个系统的回顾。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-08-25 DOI: 10.1111/jir.70033
Felicia Kreps, Shalini Wijekulasuriya, Yvonne Zurynski, Rebecca Mitchell

Background

Young people with intellectual disability may exhibit poorer general health, higher mortality rates and greater limitations from physical or mental illnesses compared to the general population. It is important to understand how this may relate to healthcare utilisation, including factors influencing healthcare access for young people with intellectual disability. This systematic review aimed to examine healthcare utilisation and to identify common barriers and facilitators of healthcare access for young people with intellectual disability.

Method

Five databases (MEDLINE, Scopus, EMBASE, PsycINFO and CINAHL) were searched from 1 January 2013 to 31 October 2024 to identify articles that examined healthcare utilisation for young people (≤ 18 years old) with intellectual disability. Abstract and full-text screening were conducted by two reviewers; data from included articles were critically appraised.

Results

Thirty-three studies were included for synthesis and focused on utilisation of hospital inpatient services (n = 22), emergency department (ED) services (n = 13), mental health or psychiatric services (n = 7) and mental health day programmes or outreach services (n = 1). Young people with intellectual disability generally had a higher proportion of hospital admissions, ED visits, hospital length of stay, mental health outpatient visits, mortality, 30-day hospital readmission and complications of care, compared to young people without intellectual disability. Common facilitators of healthcare access and engagement included having health insurance coverage and the use of visual aids and tools for the young person with intellectual disability. Barriers included low socio-economic status and poor provider communication and knowledge about intellectual disability.

Conclusions

There are clear disparities in health service outcomes for young people with intellectual disability compared to the general population, which may be influenced by socio-cultural factors and access to knowledgeable and empathetic healthcare providers. Targeted education for healthcare providers may enhance the provision of high-quality care and improve healthcare utilisation and health outcomes for young people with intellectual disability.

背景:与一般人群相比,患有智力残疾的年轻人可能表现出较差的总体健康状况、较高的死亡率和更大的身体或精神疾病限制。重要的是要了解这与医疗保健利用的关系,包括影响智障年轻人获得医疗保健的因素。本系统综述旨在检查医疗保健利用情况,并确定智力残疾年轻人获得医疗保健的共同障碍和促进因素。方法:检索2013年1月1日至2024年10月31日期间的五个数据库(MEDLINE、Scopus、EMBASE、PsycINFO和CINAHL),以确定研究智力残疾年轻人(≤18岁)医疗保健利用情况的文章。摘要和全文筛选由两位审稿人进行;对纳入文章的数据进行了批判性评价。结果:33项研究被纳入综合研究,重点关注医院住院服务(n = 22)、急诊科(ED)服务(n = 13)、心理健康或精神病学服务(n = 7)和心理健康日计划或外展服务(n = 1)的利用情况。与没有智力残疾的年轻人相比,智力残疾年轻人的住院率、急诊科就诊率、住院时间、精神健康门诊就诊率、死亡率、30天再入院率和护理并发症的比例普遍较高。促进获得和参与医疗保健的常见因素包括拥有医疗保险以及为智障青年使用视觉辅助工具和工具。障碍包括低社会经济地位和提供者沟通不足以及对智力残疾的了解不足。结论:与一般人群相比,智力残疾青年的卫生服务结果存在明显差异,这可能受到社会文化因素和获得知识渊博、善解人意的卫生保健提供者的影响。对医疗保健提供者进行有针对性的教育可以提高高质量护理的提供,并改善对智力残疾年轻人的医疗保健利用和健康结果。
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引用次数: 0
Knowledge and Understanding of Menstrual Health in Women With Intellectual Disabilities: A Brief Report 智力残疾妇女对月经健康的认识和理解:一个简短的报告
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-08-21 DOI: 10.1111/jir.70010
Laura St. John, Samantha Beckman, Abby Robertson, Patricia Doyle-Baker, Yona Lunsky

Background

Women with intellectual disabilities (ID) often lack effective education and support surrounding menstrual health. This can directly impact self-care, participation and regular engagement in sport and more generally, health and wellbeing.

Methods

Twenty-two athletes from the Special Olympics were surveyed to assess knowledge and understanding of menstrual health. Responses were analyzed descriptively to identify their gaps in knowledge and understanding.

Results

Many participants had misconceptions about menstrual hygiene, with most incorrectly estimating how frequently sanitary products should be changed. Few participants used tampons, which likely impacted their menstrual management, especially during sport activities. Additionally, knowledge about menopause was notably low, with no significant difference between age groups.

Conclusions

This study highlights a critical need for targeted education and resources to improve menstrual health knowledge among women Special Olympic athletes with ID. Addressing these gaps can enhance their independence, quality of life and sport participation. Further research and interventions are necessary to better support this population in managing their menstrual health effectively.

背景智力残疾妇女往往缺乏有关月经健康的有效教育和支持。这可以直接影响自我保健、参与和定期参加体育运动,更广泛地说,影响健康和福祉。方法对22名特奥运动员进行调查,了解其对经期健康的认识。对回答进行描述性分析,以确定他们在知识和理解方面的差距。结果许多参与者对经期卫生有误解,大多数人错误地估计了卫生用品应该更换的频率。很少有参与者使用卫生棉条,这可能会影响她们的月经管理,尤其是在体育活动期间。此外,关于更年期的知识明显较低,年龄组之间无显著差异。结论本研究强调了有针对性的教育和资源的迫切需要,以提高女性特奥运动员的月经健康知识与ID。解决这些差距可以提高他们的独立性、生活质量和体育参与。进一步的研究和干预是必要的,以更好地支持这一人群有效地管理其月经健康。
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引用次数: 0
Scale of Emotional Development-Questionnaire: A Systematic Approach to Improving Performance 情绪发展量表-问卷:改善绩效的系统方法。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-08-20 DOI: 10.1111/jir.70019
Mitchel Mesker, Jolanda Vonk, Suzanne D. M. Derks, Veerle Andries, Angelique van Lier-Weir, Paula S. Sterkenburg

Background

In people with intellectual disabilities, emotional development progresses more slowly or stagnates, which can result in challenging behaviours. The Scale of Emotional Development-Questionnaire was designed to chart people's own emotional development, providing insight into basic emotional needs and resilience, while reducing prejudice, enhancing self-awareness and improving emotional expression.

Methods

The questionnaire was completed by 134 participants with moderate to borderline intellectual disabilities. Reliability, validity, internal structure and item performance were analysed to identify areas for improvement.

Results

Preliminary analyses indicated the questionnaire captures key aspects of emotional development, with most items showing strong factor loadings (51.79%). However, multiple items may require refinement due to moderate loadings (30.00%), low loadings (18.21%), limited variance (3.93%) and negative-low correlations.

Conclusion

The Scale of Emotional Development-Questionnaire is a promising self-report interview of emotional development, complementing the proxy perspective of the Scale of Emotional Development-Short. The findings highlight areas for improvement and the need for further research post-revision.

背景:在智障人士中,情感发展进展较慢或停滞,这可能导致具有挑战性的行为。《情绪发展量表-问卷》旨在描绘人们自身的情绪发展,洞察人们的基本情绪需求和适应能力,同时减少偏见,增强自我意识,改善情绪表达。方法:对134名中度至边缘性智力障碍患者进行问卷调查。信度,效度,内部结构和项目性能进行了分析,以确定改进的领域。结果:初步分析表明,问卷捕捉了情绪发展的关键方面,大多数项目显示出很强的因素负荷(51.79%)。然而,由于中等负荷(30.00%)、低负荷(18.21%)、有限方差(3.93%)和负低相关性,多个项目可能需要细化。结论:《情绪发展量表-问卷》是一种很有前途的情绪发展自我报告访谈,是对《情绪发展量表-短量表》代理视角的补充。研究结果突出了改进的领域和修订后进一步研究的需要。
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引用次数: 0
Dementia in Intellectual Disability: An Exploratory Investigation of Comorbidity Patterns and Diagnostic Outcomes 智障痴呆:合并症模式和诊断结果的探索性调查。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-08-20 DOI: 10.1111/jir.70016
Peer C. Keller, Tanja Sappok

Background

Dementia is more prevalent and tends to manifest earlier in individuals with intellectual disabilities (ID) compared to the general population. Acquiring specific knowledge about comorbidities and diagnostic findings in individuals with ID who have dementia, as opposed to those with ID without dementia, is essential. Such insights are crucial for enhancing the quality of care.

Methods

The study was applied in a German outpatient clinic for people with ID and mental illnesses from February 2018 to September 2022. An exploratory comparison was conducted to identify differences in somatic and psychiatric comorbidities, laboratory results, cerebrospinal fluid results, neuroimaging, medication and challenging behaviour in people with ID with (n = 13, mean age: 54 years, 69% female) and without dementia (n = 73, mean age: 53 years, 48% female).

Results

In this sample, persons with ID who have dementia are more likely to have Down syndrome and less likely to have affective disorders. They received antidementia drugs more often and atypical high-potency antipsychotics less often compared to persons with ID without dementia. All other clinical data showed no differences.

Conclusions

Interestingly, no differences in somatic diseases (except Down syndrome) or laboratory and neuroimaging results could be found between people with ID with and without dementia. However, the diagnosis of dementia was associated with a reduced frequency of affective disorders and a reduced prescription of antipsychotics compared to the clinical sample without dementia. Due to the exploratory character of the study, replication in a much larger sample is necessary.

背景:与一般人群相比,痴呆症在智力残疾(ID)个体中更为普遍,而且往往表现得更早。与无痴呆的ID患者相比,获取ID患者的合并症和诊断结果的具体知识是至关重要的。这些见解对于提高护理质量至关重要。方法:该研究于2018年2月至2022年9月在德国一家身份证和精神疾病患者门诊进行。进行了一项探索性比较,以确定有(n = 13,平均年龄:54岁,69%为女性)和无痴呆(n = 73,平均年龄:53岁,48%为女性)的ID患者在身体和精神合并症、实验室结果、脑脊液结果、神经影像学、药物和挑战性行为方面的差异。结果:在这个样本中,患有痴呆症的ID患者患唐氏综合症的可能性更大,患情感障碍的可能性更小。与无痴呆的ID患者相比,他们接受抗痴呆药物的频率更高,而非典型高效抗精神病药物的频率更低。其他临床数据均无差异。结论:有趣的是,在患有和不患有痴呆症的ID患者之间,没有发现躯体疾病(唐氏综合征除外)或实验室和神经影像学结果的差异。然而,与没有痴呆症的临床样本相比,痴呆症的诊断与情感障碍的频率降低和抗精神病药物的处方减少有关。由于这项研究的探索性,在更大的样本中进行复制是必要的。
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引用次数: 0
The Psychometric Properties of Emotional Development Assessment tools in Intellectual Disabilities: A Systematic Review 智障情绪发展评估工具的心理测量特性:系统回顾。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-08-12 DOI: 10.1111/jir.70023
Bethany Leal, Mark Hudson

Background

People with intellectual disabilities can experience psychological distress and show behaviours of concern, such as self-injurious behaviour or physical aggression. One contributing factor is the degree to which their emotional needs are understood by those in their environment. This paper aims to review the psychometric properties of assessment tools measuring emotional development in individuals with intellectual disabilities.

Methods

A systematic literature review was conducted, which included 5 databases and followed the PRISMA guidance (registration number: CRD42024553322). Seven assessment tools were included in this review: the SAED, SED-S, Brief SED-S, SED-R, and SED-R2, SEO-Lukas and the Frankish model, and the psychometric properties were assessed in accordance with the COSMIN good measurement properties checklist.

Results

Sixteen studies were included in this review. Internal consistency was assessed in six of the seven measures; validity was only assessed in the SAED and SED-S. Whilst both of these measures were considered reliable and valid, studies on the SAED had greater methodological quality, and the SED-S had a larger quantity of evidence.

Conclusions

Both the SAED and the SED-S are psychometrically sound tools, based on the overall quality and sufficiency of the evidence. Further research should consider the usability, sensitivity and cross-cultural use, especially in UK populations.

背景:智障人士可能会经历心理困扰,并表现出令人担忧的行为,如自残行为或身体攻击。其中一个影响因素是他们的情感需求在多大程度上被周围的人理解。本文旨在回顾智力障碍个体情感发展评估工具的心理测量特性。方法:采用系统文献综述,纳入5个数据库,遵循PRISMA指南(注册号:CRD42024553322)。本文采用SAED、SED-S、Brief SED-S、SED-R、SED-R2、SEO-Lukas和Frankish模型7种评估工具,并根据COSMIN良好测量特性清单评估心理测量特性。结果:本综述纳入了16项研究。7项措施中的6项评估了内部一致性;效度仅在SAED和SED-S中进行评估。虽然这两种测量方法都被认为是可靠和有效的,但SAED的研究具有更高的方法质量,而SED-S有更多的证据。结论:基于证据的整体质量和充分性,SAED和SED-S都是心理测量学上可靠的工具。进一步的研究应该考虑可用性、敏感性和跨文化使用,特别是在英国人群中。
{"title":"The Psychometric Properties of Emotional Development Assessment tools in Intellectual Disabilities: A Systematic Review","authors":"Bethany Leal,&nbsp;Mark Hudson","doi":"10.1111/jir.70023","DOIUrl":"10.1111/jir.70023","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>People with intellectual disabilities can experience psychological distress and show behaviours of concern, such as self-injurious behaviour or physical aggression. One contributing factor is the degree to which their emotional needs are understood by those in their environment. This paper aims to review the psychometric properties of assessment tools measuring emotional development in individuals with intellectual disabilities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A systematic literature review was conducted, which included 5 databases and followed the PRISMA guidance (registration number: CRD42024553322). Seven assessment tools were included in this review: the SAED, SED-S, Brief SED-S, SED-R, and SED-R<sup>2</sup>, SEO-Lukas and the Frankish model, and the psychometric properties were assessed in accordance with the COSMIN good measurement properties checklist.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Sixteen studies were included in this review. Internal consistency was assessed in six of the seven measures; validity was only assessed in the SAED and SED-S. Whilst both of these measures were considered reliable and valid, studies on the SAED had greater methodological quality, and the SED-S had a larger quantity of evidence.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Both the SAED and the SED-S are psychometrically sound tools, based on the overall quality and sufficiency of the evidence. Further research should consider the usability, sensitivity and cross-cultural use, especially in UK populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 10","pages":"1061-1080"},"PeriodicalIF":2.0,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70023","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835238","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
A Call for Inclusion: Children With Intellectual Disabilities in Trauma Treatment Research 呼吁包容:创伤治疗研究中的智障儿童。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-08-07 DOI: 10.1111/jir.70011
Zackary F. Moore, Anna W. Wright, Carine E. Leslie, Allison D'Aguilar, Ananda B. Amstadter, Ruth C. Brown

Background

Children with intellectual disabilities (ID) experience disparities in mental health care despite experiencing increased exposure to trauma such as physical, emotional and sexual abuse. Studies have suggested that the exclusion of people with ID from medical research may contribute to disparities in health care. It is currently unknown to what extent children with ID are excluded from trauma treatment research.

Methods

All randomised controlled trials (RCTs) (n = 62) included in the most up-to-date International Society for Traumatic Stress Studies (ISTSS) clinical care guidelines meta-analysis of posttraumatic stress disorder (PTSD) treatments were reanalysed and coded to determine whether or not children with ID or other developmental disabilities that co-occur with ID were excluded based on inclusion/exclusion criteria. Articles were double-coded by the research team. The corresponding authors of the studies were asked to complete a survey rating the likelihood that children with ID would have been eligible for the study.

Results

Of the studies, 61.3% reviewed reported exclusion criteria based on a diagnosis of intellectual disability, cognitive impairment, autism spectrum disorder, organic/neurological conditions, or other related terms (e.g., ‘significant learning difficulties’). Operationalisation of exclusion criteria was sparse. Few studies reported the number of children excluded from trials based on an ID diagnosis.

Conclusions

The evidence base for the ISTSS clinical care guidelines of child PTSD treatment is not representative of children with ID. Improved documentation of inclusion/exclusion criteria, reporting of disability as a demographic characteristic, and inclusion of children with ID in PTSD treatment trials are needed to improve representation of children with ID in PTSD research.

背景:智力残疾儿童(ID)在精神卫生保健方面存在差异,尽管他们经历了更多的创伤,如身体、情感和性虐待。研究表明,将ID患者排除在医学研究之外可能会导致医疗保健方面的差异。目前尚不清楚有ID的儿童在多大程度上被排除在创伤治疗研究之外。方法:重新分析所有纳入最新国际创伤应激研究学会(ISTSS)临床护理指南创伤后应激障碍(PTSD)治疗荟萃分析的随机对照试验(rct) (n = 62),并对其进行编码,以确定是否根据纳入/排除标准排除患有ID或与ID同时发生的其他发育障碍的儿童。研究小组对文章进行了双重编码。研究的通讯作者被要求完成一项调查,评估患有ID的儿童有资格参加研究的可能性。结果:在这些研究中,61.3%的研究回顾了基于智力残疾、认知障碍、自闭症谱系障碍、器官/神经系统疾病或其他相关术语(例如“显著学习困难”)诊断的报告排除标准。排除标准的操作很少。很少有研究报告了基于ID诊断而被排除在试验之外的儿童数量。结论:ISTSS儿童创伤后应激障碍治疗临床护理指南的证据基础不能代表ID儿童。需要改进纳入/排除标准的文件,将残疾作为人口统计学特征的报告,以及将ID儿童纳入PTSD治疗试验,以提高ID儿童在PTSD研究中的代表性。
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引用次数: 0
Personality Trait Profiles in People With Mild Intellectual Disability: A Comparative Study 轻度智力残疾者人格特征的比较研究。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-08-07 DOI: 10.1111/jir.70032
Renate A. van der Heijden, Paul T. van der Heijden, Hubert P. L. M. Korzilius, Han Berghuis, Robert Didden

Background

Personality assessment in people with mild intellectual disability (MID) is difficult due to their communication difficulties and lack of reliable instruments. In addition, characteristics of maladaptive personality traits may be attributed to the intellectual disability. As a result, little is known about (maladaptive) personality traits in people with MID. The aim of this study was to explore maladaptive personality traits of people with MID and compare them to those of two comparison groups.

Methods

Maladaptive personality traits of people with MID referred to specialised mental health care (n = 75) were compared with those of people with borderline intellectual functioning referred to specialised mental health care (BIF, n = 69) and those of people with average educational levels from general mental health care (AVE, n = 73) using the Dimensional Assessment of Personality Pathology–Short Form.

Results

People with MID scored higher on Affective Lability, Anxiousness, Identity Problems, Insecure Attachment and Suspiciousness and lower on Narcissism and Social Avoidance compared to the people with AVE. No differences in personality trait scores were found between people with MID and people with BIF, except for a lower score on Social Avoidance in those with MID. Almost all differences demonstrated small effect sizes.

Discussion

Maladaptive personality traits of people with MID and comorbid psychopathology are of similar severity compared to those of people with BIF and comorbid psychopathology or people in mental health care with average educational levels. This study emphasises that clinicians look beyond the intellectual and adaptive disabilities when assessing for mental health problems in people with MID, while meeting their needs when it comes to the treatment of these problems.

背景:由于轻度智障患者的沟通困难和缺乏可靠的工具,对其进行人格评估是困难的。此外,适应不良人格特征的特征可能归因于智力障碍。因此,人们对MID患者的(适应不良)人格特征知之甚少。本研究的目的是探讨MID患者的适应不良人格特征,并将其与两个对照组进行比较。方法:采用《人格病理学简表维度评估》,将专业精神卫生保健的MID患者(n = 75)与专业精神卫生保健的边缘性智力功能患者(n = 69)和普通精神卫生保健的中等教育水平患者(n = 73)的适应不良人格特征进行比较。结果:中度人格障碍患者在情感不稳定、焦虑、身份问题、不安全依恋和怀疑方面得分高于中度人格障碍患者,在自恋和社交回避方面得分低于中度人格障碍患者。中度人格障碍患者与重度人格障碍患者在人格特质得分上无显著差异,但在社交回避方面得分低于中度人格障碍患者。讨论:与BIF和共病精神病理患者或平均教育水平的精神卫生保健人员相比,MID和共病精神病理患者的适应不良人格特征具有相似的严重程度。这项研究强调,临床医生在评估MID患者的心理健康问题时,不仅要考虑智力和适应障碍,还要满足他们对这些问题的治疗需求。
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引用次数: 0
Academic Learning Profiles Across Disorders of KMT2 Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann–Steiner and ODLURO Syndromes 跨KMT2基因家族障碍的学术学习概况:歌舞伎、Wiedemann-Steiner和ODLURO综合征的重叠和独特特征。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-08-05 DOI: 10.1111/jir.70017
Rowena Ng, Lauren Meier, Anne O'Donnell-Luria, Jacqueline Harris

Objectives

Kabuki syndrome (KS), Wiedemann–Steiner syndrome (WSS) and O'Donnell–Luria–Rodan (ODLURO) syndrome are rare disorders caused by pathogenic variants in histone lysine methyltransferases, specifically the KMT2 gene family. All of these disorders are commonly associated with intellectual disability. Recent studies found overlap between KS and WSS cognitive phenotypes, suggesting shared disease pathogenesis. In contrast, the neuropsychological profile of ODLURO remains largely unknown. This study examines the academic learning concerns across the syndromes to better understand their cognitive profiles and provide guidance for clinical care.

Methods

Fifty caregivers participated in this study, 25 with a child with WSS (Mean age = 12.85 years, SD = 1.82), 14 with KS (Mean age = 12.06, SD = 5.91) and 11 with ODLURO (Mean age = 12.43, SD = 4.69). All caregivers completed the Colorado Learning Difficulties Questionnaire, a parent-screening inventory of learning/academic challenges, specifically in reading, math and spatial skills.

Results

Results suggest shared deficits in spatial skills, but different patterns of academic learning concerns across syndromes. Those with WSS were rated to show unique challenges in math and spatial domains, while those with ODLURO show global difficulties across areas. Individuals with KS were rated to show the most significant challenges in spatial skills, but comparable reading and math concerns.

Conclusions

Study results support recent publications on the overlapping cognitive profile in WSS and KS, specifically with distinct deficits in visual spatial processing. In contrast, ODLURO is associated with more generalised cognitive difficulties that warrant further investigation. Disruption of KMT2 genes may have common and individual effects on neurodevelopment that necessitate cross-syndrome research to illuminate gene–brain–behaviour relationships.

目的:Kabuki综合征(KS)、Wiedemann-Steiner综合征(WSS)和O'Donnell-Luria-Rodan综合征(ODLURO)是由组蛋白赖氨酸甲基转移酶致病性变异引起的罕见疾病,特别是KMT2基因家族。所有这些疾病通常都与智力残疾有关。最近的研究发现KS和WSS之间的认知表型重叠,提示有共同的疾病发病机制。相比之下,ODLURO的神经心理学特征在很大程度上仍然未知。本研究探讨了跨综合症的学术学习问题,以更好地了解他们的认知概况,并为临床护理提供指导。方法:50名护理人员参与本研究,其中25名为WSS患儿(平均年龄12.85岁,SD = 1.82), 14名为KS患儿(平均年龄12.06岁,SD = 5.91), 11名为ODLURO患儿(平均年龄12.43岁,SD = 4.69)。所有照顾者都完成了科罗拉多学习困难问卷,这是一份学习/学业挑战的家长筛选清单,特别是在阅读、数学和空间技能方面。结果:结果表明,空间技能的缺陷是共同的,但不同综合征的学术学习模式不同。患有WSS的人在数学和空间领域表现出独特的挑战,而患有ODLURO的人在各个领域都表现出全球性的困难。患有KS的人被评为在空间技能方面表现出最大的挑战,但在阅读和数学方面也有类似的挑战。结论:研究结果支持了最近发表的WSS和KS的重叠认知特征,特别是视觉空间加工的明显缺陷。相比之下,ODLURO与更广泛的认知困难有关,值得进一步研究。KMT2基因的破坏可能对神经发育有共同和个体的影响,这需要交叉综合征研究来阐明基因-脑-行为关系。
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引用次数: 0
Prevalence and Potential Risk Factors of Ocular Disorders Among Institutionalised Adults With Intellectual Disabilities—A City-Wide Survey in Taipei City 台北市智障成人机构眼疾患病率及潜在危险因素之调查。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-08-05 DOI: 10.1111/jir.13258
Ching-Ju Hsieh, Tzu-Hsun Tsai, Fu-Gong Lin, Yu-Lung Chiu, I-Mo Fang

Background

To conduct a city-wide survey and investigate the risk factors of ocular disorders among institutionalised adults with intellectual disabilities (ID) in Taipei City.

Method

A cross-section city-wide ophthalmic survey was conducted in Taipei City from 2016 to 2017, involving full-day residents with ID aged over 18. Participant characteristics, including age, gender, ID severity and associated diseases, were collected for multiple logistic regression analysis to identify ocular disorder risk factors.

Result

A total of 687 participants, comprising 70.9% of the eligible individuals, were included. Refractive errors (73.8%), strabismus (32.6%), ocular hypertension (26.0%) and cataract (15.3%) were the most common ocular disorders. Myopia (73.2%) is the most common refractive error, with 14.6% being high myopia. Down's syndrome (DS) was a common risk factor for developing strabismus (OR, 2.87; 95% confidence interval [CI], 1.54 to 3.35), nystagmus (OR, 6.50; 95% CI, 2.22 to 19.0), high myopia (OR, 2.62; CI, 1.85 to 3.09), high astigmatism (OR, 3.06; CI, 1.65 to 5.69) and cataracts (OR, 8.00; CI, 3.50 to 18.30), while it served as a protective factor against ocular hypertension (OR, 0.14; CI, 0.03 to 0.62). Cerebral palsy (CP) was identified as a common risk factor for strabismus (OR, 2.17; CI, 1.16 to 4.05), nystagmus (OR, 4.22; CI, 1.51 to 11.8) and high myopia (OR, 2.22; CI, 1.04 to 4.73).

Conclusion

High prevalence of myopia, strabismus, ocular hypertension and cataract was observed in institutionalised adults with ID. DS and CP were more significant risk factors than ID severity for ocular disorders. Regular ophthalmic exams, particularly monitoring intraocular pressure, are crucial for this population.

背景:本研究旨在调查台北市收容成人智障患者眼部疾病的危险因素。方法:2016 - 2017年在台北市进行全市眼科横断面调查,调查对象为18岁以上持身份证的全日居民。收集参与者的特征,包括年龄、性别、ID严重程度和相关疾病,进行多元logistic回归分析,以确定眼部疾病的危险因素。结果:共纳入687名参与者,占符合条件个体的70.9%。屈光不正(73.8%)、斜视(32.6%)、高眼压(26.0%)和白内障(15.3%)是最常见的眼部疾病。近视(73.2%)是最常见的屈光不正,其中高度近视占14.6%。唐氏综合征(DS)是发生斜视的常见危险因素(OR, 2.87;95%可信区间[CI], 1.54 ~ 3.35),眼球震颤(OR, 6.50;95% CI, 2.22 ~ 19.0),高度近视(OR, 2.62;CI, 1.85至3.09),高度散光(OR, 3.06;CI, 1.65 ~ 5.69)和白内障(OR, 8.00;CI, 3.50 ~ 18.30),而它是防止高眼压的保护因素(OR, 0.14;CI, 0.03 ~ 0.62)。脑瘫(CP)被认为是斜视的常见危险因素(OR, 2.17;CI, 1.16 - 4.05),眼球震颤(OR, 4.22;CI, 1.51 ~ 11.8)和高度近视(OR, 2.22;CI, 1.04 - 4.73)。结论:住院成人ID患者近视、斜视、高眼压和白内障发生率较高。DS和CP是比ID严重程度更重要的眼部疾病危险因素。定期眼科检查,特别是监测眼压,对这一人群至关重要。
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引用次数: 0
Performance-Based Executive Functions Predict Internalising but Not Externalising Maladaptive Behaviour in Students With ID 基于表现的执行功能预测内化而非外化ID学生的适应不良行为。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-08-04 DOI: 10.1111/jir.70027
Stephan Kehl, Nina Römer

Background

Maladaptive behaviour is common in students with intellectual disability (ID). While executive functions (EFs) in typically developing children and adolescents are associated with maladaptive behaviour, there is currently contradictory and only fragmented empirical evidence on this association in students with ID. However, following impairments of EFs in this population, investigating this relationship could enhance the understanding of the development of maladaptive behaviour in students with ID.

Method

The sample consisted of 45 students with ID (M = 11.8 years). Three core EFs (executive-loaded working memory, switching, inhibition) were measured with performance-based tasks, and maladaptive behaviour was assessed using a teacher report (BASC-3).

Results

Regression analyses showed that EF significantly predicted internalising but not externalising maladaptive behaviour. Specifically, working memory was positively related to internalising maladaptive behaviour. After controlling for fluid intelligence, age and sex, inhibition was negatively related to anxious maladaptive behaviour.

Conclusions

This study yields valuable evidence on the relationship between performance-based EF and maladaptive behaviour in students with ID and offers important implications for practice. Moreover, teachers should be aware that externalising maladaptive behaviour could be indicative of underlying mental health issues in students with ID, given the strong relationship between internalising and externalising maladaptive behaviour.

背景:适应不良行为在智力障碍学生中很常见。虽然正常发育的儿童和青少年的执行功能(EFs)与适应不良行为有关,但目前关于ID学生的这种关联的经验证据是相互矛盾的,而且只是零散的。然而,随着这一人群的ef受损,调查这种关系可以增强对ID学生适应不良行为发展的理解。方法:样本为45名ID学生(M = 11.8岁)。三个核心EFs(执行负载工作记忆,转换,抑制)通过基于绩效的任务进行测量,并使用教师报告(BASC-3)评估适应不良行为。结果:回归分析显示,EF显著预测内化而非外化适应不良行为。具体来说,工作记忆与内化适应不良行为呈正相关。在控制了流体智力、年龄和性别后,抑制与焦虑性适应不良行为呈负相关。结论:本研究提供了有价值的证据,证明了基于成绩的英语学习与ID学生适应不良行为之间的关系,并为实践提供了重要的启示。此外,鉴于内化和外化适应不良行为之间的密切关系,教师应该意识到外化适应不良行为可能表明有ID的学生存在潜在的心理健康问题。
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引用次数: 0
期刊
Journal of Intellectual Disability Research
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