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Perceptions of People With Intellectual Disabilities on Autonomy and Decision-Making in Daily Life: A Systematic Review and Synthesis of Qualitative Studies. 智障人士对日常生活中自主性与决策的认知:质性研究的系统回顾与综合。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-09-11 DOI: 10.1111/jir.70035
James Sheerin, Fionnuala Larkin, Samantha Dockray

Background: This qualitative systematic review aimed to synthesise research on the experiences of people with an intellectual disability on autonomy and decision-making in their everyday lives.

Method: A systematic review was completed of studies published between 2012 and 2024 that included qualitative data exploring perceptions of people with an intellectual disability aged 18 and over on autonomy and decision-making in their lives, excluding quantitative studies and those only including carers. Searches (conducted April-August 2022, updated June 2024) were based on terms linked to intellectual disability, autonomy and decision-making. Databases included PsycINFO, PsycARTICLES, PubMed, Social Sciences Full Text, SocINDEX, CINAHL, MEDLINE and Scopus. The review protocol was registered on Prospero ID: CRD42022333120.

Results: A total of 15 studies, including 246 people with an intellectual disability, met the inclusion criteria. Quality was assessed using the Critical Appraisal Skills Programme criteria. Thematic synthesis generated four primary analytical themes: 'We know what's best for you', 'The loudest voice gets heard', 'The meaning of autonomy' and 'Conflicting views on service role'.

Conclusion: The findings of this synthesis suggest that people with an intellectual disability often feel that their autonomy is not prioritised and that decisions are often made for them without their input. The findings highlight the need for person-centred approaches and systemic change to support the autonomy of people with an intellectual disability. Included studies often neglected to consider the researcher-participant relationship and used varied data collection and analytic methods, which produced heterogeneity in the review findings. Future research is needed to explore the impact of societal attitudes and beliefs on the autonomy of people with an intellectual disability, as well as the effectiveness of person-centred approaches in promoting autonomy.

背景:本定性系统综述旨在综合研究智障人士在日常生活中的自主和决策经验。方法:对2012年至2024年间发表的研究进行系统回顾,其中包括探讨18岁及以上智障人士对生活中自主性和决策的看法的定性数据,不包括定量研究和仅包括护理人员的研究。搜索(进行于2022年4月至8月,更新于2024年6月)基于与智力残疾、自主和决策相关的术语。数据库包括PsycINFO、PsycARTICLES、PubMed、Social Sciences Full Text、SocINDEX、CINAHL、MEDLINE和Scopus。审查协议已在Prospero上注册,ID: CRD42022333120。结果:共有15项研究,包括246名智障患者,符合纳入标准。使用关键评估技能计划标准评估质量。主题综合产生了四个主要的分析主题:“我们知道什么最适合你”、“最响亮的声音会被听到”、“自治的意义”和“对服务角色的冲突观点”。结论:这一综合研究的结果表明,智障人士经常觉得他们的自主权没有被优先考虑,决策往往是在没有他们参与的情况下为他们做出的。研究结果强调需要采取以人为本的方法和系统性变革,以支持智障人士的自主性。纳入的研究往往忽略了研究者与参与者之间的关系,并使用了不同的数据收集和分析方法,这导致了综述结果的异质性。未来的研究需要探索社会态度和信仰对智障人士自主性的影响,以及以人为本的方法在促进自主方面的有效性。
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引用次数: 0
Feasibility of Measuring Hair Glucocorticoids as a Potential Biomarker for Chronic Stress in Older Adults With Intellectual Disabilities 测量毛发糖皮质激素作为老年智障患者慢性应激潜在生物标志物的可行性。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-09-09 DOI: 10.1111/jir.70040
Jasper Steven Dijkema, Mylène Nathalie Böhmer, Patrick Jan Eugene Bindels, Dederieke Anne Maria Maes-Festen, Alyt Oppewal
<div> <section> <h3> Background</h3> <p>Chronic stress can significantly impact health, leading to conditions such as cardiovascular disease and mental health issues. Detecting chronic stress in older adults with intellectual disabilities (ID) is challenging, but measuring scalp hair glucocorticoids (HairGC) may offer a solution. This study aims to investigate the feasibility of measuring HairGC in older adults with ID and assess reasons for failed sample collection and analysis.</p> </section> <section> <h3> Methods</h3> <p>Hair samples were collected in the Healthy Ageing and Intellectual Disabilities (HA-ID) cohort study (<i>n</i> = 278, 71.3 years [SD 6.2]). Feasibility was described as overall feasibility (percentage of successful measurements out of the total group) and quantified by consent rate (participants who consented for hair sample collection), collection rate (successfully collected hair samples from those who consented), and analysis rate (successfully analysed samples). Rates were categorised as low (< 25%), moderate (≥ 25–< 50%), good (≥ 50–< 75%) or excellent (≥ 75%), with stricter cutoffs for analysis rate (low: < 75%, moderate: ≥ 75–< 85%, good: ≥ 85–< 95%, excellent: ≥ 95%). Feasibility rates and reasons for failed collection and analysis were analysed for the total group and subgroups by age, sex and level of ID.</p> </section> <section> <h3> Results</h3> <p>The feasibility of consent rate (204/278; 73%), collection rate (103/204; 50%) and analysis rate (89/103; 86%) was good. Overall, HairGCs were successfully measured for 89 out of 278 participants (32%), showing a moderate overall feasibility. Reasons for collection failure (<i>n</i> = 101/204) were hair that was too short or too thin (<i>n</i> = 65, 64%), resistance (<i>n</i> = 9, 9%), no-shows (<i>n</i> = 5, 5%), other reasons (<i>n</i> = 9, 9%) and unknown reason (<i>n</i> = 13, 13%). Reasons for analysis failure (14/103) were not enough material (<i>n</i> = 12, 86%) and lost samples (<i>n</i> = 2, 14%). Overall feasibility rate was lower in males (15%) than in females (50%; <i>p</i> < 0.001) and higher in participants with moderate ID (42%) than in those with severe and profound ID (25%; <i>p</i> = 0.004).</p> </section> <section> <h3> Conclusions</h3> <p>Overall feasibility of measuring HairGCs in older adults with ID was moderate. Feasibility was lower in males, with insufficient hair length/thickness as the main limitation, and higher in participants with moderate ID. HairGC measurement appears most feasible in females and less so in balding mal
背景:慢性压力会显著影响健康,导致心血管疾病和心理健康问题。检测患有智力障碍(ID)的老年人的慢性压力是具有挑战性的,但测量头皮的糖皮质激素(HairGC)可能提供一个解决方案。本研究旨在探讨在老年ID患者中测量HairGC的可行性,并评估样本采集和分析失败的原因。方法:从健康老龄化和智力残疾(HA-ID)队列研究(n = 278, 71.3岁[SD 6.2])中收集头发样本。可行性被描述为总体可行性(成功测量占总组的百分比),并通过同意率(同意收集头发样本的参与者)、收集率(成功收集同意者的头发样本)和分析率(成功分析样本)来量化。结果:同意率(204/278;73%)、收集率(103/204;50%)和分析率(89/103;86%)可行性较好。总体而言,278名参与者中有89人(32%)成功测量了hairgc,显示出适度的总体可行性。收集失败的原因(n = 101/204)为头发太短或太细(n = 65, 64%)、阻力(n = 9, 9%)、未到(n = 5, 5%)、其他原因(n = 9, 9%)和未知原因(n = 13, 13%)。分析失败(14/103)的原因是材料不足(n = 12, 86%)和丢失样品(n = 2, 14%)。男性的总体可行性(15%)低于女性(50%);p结论:在老年ID患者中测量HairGCs的总体可行性为中等。男性的可行性较低,主要限制因素是头发长度/厚度不足,而中度ID的参与者的可行性较高。头发gc测量似乎在女性中最可行,而在秃顶的男性中不太可行,这限制了其作为老年人群压力测量工具的广泛适用性。
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引用次数: 0
PTSD Symptoms After Traumatic Versus Stressful Life Events in People With Mild Intellectual Disabilities: Proving the Null 轻度智障患者创伤性与压力性生活事件后PTSD症状:证明无效。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-09-05 DOI: 10.1111/jir.70034
Mariëlle Rouleaux, Nienke Peters-Scheffer, Samantha Bouwmeester, Ramón Lindauer, Liesbeth Mevissen, Robert Didden

Background

Research in people without ID suggests that both traumatic events (i.e., A criterion events) and stressful life events (i.e., non-A criterion events) can produce PTSD symptoms. However, research on this subject in ID populations is limited. The discussion about the usefulness of Criterion A (i.e., the stressor criterion) as a gate criterion for PTSD in the DSM-5-TR is particularly important for people with mild intellectual disabilities (MID) or borderline intellectual functioning (BIF) because of their vulnerability to stressors. This study aimed to compare PTSD symptoms and impairment of daily life functioning (IDLF) score following traumatic versus stressful index events in people with MID-BIF.

Methods

The Diagnostic Interview Trauma and Stressors–Intellectual Disability (DITS-ID) was administered to 54 participants with MID-BIF. Two groups were generated based on the type of index event (i.e., traumatic or stressful). Bayesian equivalence testing was used to assess whether the two groups differed in terms of PTSD symptoms and IDLF score.

Results

Data were more consistent with either a small difference or no difference at all between the traumatic (N = 22) and stressful group (N = 32) regarding the mean number of PTSD symptoms and the mean IDLF score. Differences in PTSD symptoms and IDLF scores ranged from 0.00 to 0.87.

Conclusion

No clinically relevant differences were found between the traumatic and stressful groups in terms of mean number of PTSD symptoms and IDLF score. Stressful life events might produce PTSD symptoms in people with MID-BIF.

背景:对无ID人群的研究表明,创伤性事件(即A标准事件)和应激性生活事件(即非A标准事件)均可产生PTSD症状。然而,关于这一问题在身份证人群中的研究是有限的。在DSM-5-TR中,关于标准A(即应激源标准)作为创伤后应激障碍的门标准的有用性的讨论,对于具有轻度智力障碍(MID)或边缘性智力功能(BIF)的人尤其重要,因为他们易受应激源的影响。本研究旨在比较中期bif患者创伤性和应激性指数事件后PTSD症状和日常生活功能障碍(IDLF)评分。方法:对54例MID-BIF患者进行创伤与应激-智力障碍诊断性访谈(dtis - id)。根据指标事件的类型(即创伤性或应激性)产生两组。采用贝叶斯等价检验评估两组在PTSD症状和IDLF评分方面是否存在差异。结果:创伤组(N = 22)和应激组(N = 32)在PTSD症状的平均数量和平均IDLF评分方面的数据比较一致,要么有很小的差异,要么根本没有差异。PTSD症状和IDLF评分的差异在0.00 ~ 0.87之间。结论:创伤组与应激组在PTSD症状的平均出现次数及IDLF评分方面无临床相关差异。有压力的生活事件可能会导致中度bif患者出现PTSD症状。
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引用次数: 0
Off-Label Antipsychotic Withdrawal in People With Intellectual Disabilities: Development and Internal Validation of a Prediction Model 智障人士的非适应症抗精神病药物戒断:一个预测模型的发展和内部验证。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-09-04 DOI: 10.1111/jir.70038
Joëlle Weijgertze-Lanser, Maureen B. G. Wissing, Roy G. Elbers, Josien Jonker, Gerda M. de Kuijper, Dederieke A. M. Maes-Festen

Background

Off-label antipsychotic use in people with intellectual disabilities and challenging behaviour is high. Antipsychotic withdrawal is recommended, but attempts are often unsuccessful. This study aimed to develop and internally validate a prediction model that provides insight into predicting factors for unsuccessful (i.e. incomplete) off-label antipsychotic withdrawal attempts in people with intellectual disabilities.

Methods

Data collected in two previous studies examining the withdrawal of off-label antipsychotics in people with intellectual disabilities and challenging behaviour living mostly in 24/7 care settings (98.6%) in the Netherlands were analysed. The dataset included 141 participants (64.5% male, median age 52). We selected candidate predictors (age, level of intellectual disability, defined daily dose, autism spectrum disorder and three subscales of the Aberrant Behavior Checklist [ABC], namely stereotypy, hyperactivity and lethargy) based on previous research and clinical relevance. A multivariable logistic regression analysis with backward selection procedures was conducted to identify significant predictors. The model was internally validated using bootstrapping procedures.

Results

The analysis revealed the level of intellectual disability (p = 0.030, OR = 2.374), defined daily dose (p = 0.063, OR = 2.833), and ABC stereotypy (p = 0.007, OR = 1.106) as key predictors for unsuccessful withdrawals. The variables explained 20% of the variance (Nagelkerke's R-square, R2 = 0.200). The model calibrated well as the Hosmer and Lemeshow test was not significant. The discrimination of the model was fair to good; the Area Under the Curve (AUC) was 0.728. Internal validation procedures showed an optimism-corrected AUC of 0.706; the optimism-corrected Nagelkerke's R2 was 0.157.

Conclusions

The odds of unsuccessful withdrawal increase with a more severe level of intellectual disability, a higher antipsychotic defined daily dose and higher stereotypy scores. The results inform healthcare providers about the predictive factors enabling them to better anticipate and support future withdrawal attempts.

背景:在智力残疾和具有挑战性行为的人群中,标签外抗精神病药物的使用很高。建议停用抗精神病药物,但尝试往往不成功。本研究旨在开发并内部验证一个预测模型,该模型提供了对智力残疾患者未成功(即不完整)的非适应症抗精神病药物戒断尝试的预测因素的见解。方法:对先前两项研究收集的数据进行分析,这些研究调查了荷兰智力残疾和行为困难的人(98.6%)在24/7护理环境中停用标签外抗精神病药物的情况。该数据集包括141名参与者(64.5%为男性,中位年龄52岁)。我们根据以往的研究和临床相关性选择了候选预测因子(年龄、智力残疾水平、限定日剂量、自闭症谱系障碍和异常行为检查表[ABC]的三个子量表,即刻板印象、多动和嗜睡)。采用逆向选择程序进行多变量逻辑回归分析,以确定显著的预测因子。该模型使用自举程序进行内部验证。结果:分析显示智力残疾水平(p = 0.030, OR = 2.374)、规定日剂量(p = 0.063, OR = 2.833)和ABC刻板印象(p = 0.007, OR = 1.106)是不成功停药的关键预测因素。这些变量解释了20%的方差(Nagelkerke的r平方,R2 = 0.200)。模型校正良好,Hosmer和Lemeshow检验不显著。模型的歧视是公平到好的;曲线下面积(AUC)为0.728。内部验证程序显示,乐观校正的AUC为0.706;乐观修正后的Nagelkerke R2为0.157。结论:智力残疾程度越严重,抗精神病药物每日剂量越高,刻板印象评分越高,戒断失败的几率越大。结果告知医疗保健提供者有关的预测因素,使他们能够更好地预测和支持未来的退出尝试。
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引用次数: 0
Foundational Reading Knowledge of Teachers of Students With IDD: Examining Experience, Degree and Time Use 缺乏症学生教师的基础阅读知识:经验、程度与时间利用的考察
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-09-04 DOI: 10.1111/jir.70041
Esther R. Lindström, Kimberly A. McFadden, Qiong Fu, Molly J. Ruiz

Background

Special education teachers require foundational reading content knowledge (e.g., phonemic awareness, phonics) to teach early reading skills. Though many measures have been developed to measure such knowledge, none have examined item-level differences related to teacher characteristics (i.e., experience, degree and instructional time use).

Method

In this study, we examined the psychometric properties of the 20-item Teacher Knowledge Assessment: Structure of Language scale using data from 337 special education teachers providing reading instruction to students with intellectual and developmental disabilities in the United States.

Results

Out of 20 possible total points for correctly answered items, the average score was 13.2 (SD = 3.5). We conducted Rasch analysis and dropped two misfitting items, resulting in 18 items on the scale (M = 11.9; SD = 3.3). Using dichotomous teachers' years of experience (≤ 5 years vs. > 5 years), education level (bachelor's or below vs. advanced) and self-reported time teaching phonics and phonemic awareness (≤ 20% vs. > 20%) as focal variables, we conducted differential item functioning (DIF) analyses as part of the Rasch analysis. A greater number of items showed DIF for teacher experience or instructional time use (8 items each) than for degree (3 items), with easier and harder items identified for each subgroup.

Conclusions

These results evince inconsistencies in teachers' acquired foundational reading knowledge based on experience, degree and instructional time use. Structured literacy standards for teacher preparation programmes and in-service training initiatives may provide the means to address gaps in teachers' knowledge.

背景:特殊教育教师需要基础的阅读内容知识(如音素意识、自然拼读法)来教授早期阅读技能。虽然已经开发了许多测量方法来测量这些知识,但没有一个测量过与教师特征(即经验、学位和教学时间使用)相关的项目水平差异。方法:本研究利用美国337名为智力和发育障碍学生提供阅读指导的特殊教育教师的数据,对20项教师知识评估:语言结构量表的心理测量特征进行了检验。结果:在正确回答的20个项目中,平均得分为13.2 (SD = 3.5)。我们进行Rasch分析,剔除2个不拟合项,量表上共有18项(M = 11.9, SD = 3.3)。使用二分类教师的经验年限(≤5年vs. bb0 5年)、教育水平(本科或以下vs.高级)和自我报告的教授语音和音素意识的时间(≤20% vs. bb1 20%)作为重点变量,我们进行了差异项目功能(DIF)分析,作为Rasch分析的一部分。教师经验或教学时间使用(每个8项)比学位(3项)显示DIF的项目数量更多,每个子组确定了更容易和更难的项目。结论:教师的基础阅读知识在经验、学位和教学时间使用上存在不一致性。教师培训方案和在职培训举措的结构化扫盲标准可提供解决教师知识差距的手段。
{"title":"Foundational Reading Knowledge of Teachers of Students With IDD: Examining Experience, Degree and Time Use","authors":"Esther R. Lindström,&nbsp;Kimberly A. McFadden,&nbsp;Qiong Fu,&nbsp;Molly J. Ruiz","doi":"10.1111/jir.70041","DOIUrl":"10.1111/jir.70041","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Special education teachers require foundational reading content knowledge (e.g., phonemic awareness, phonics) to teach early reading skills. Though many measures have been developed to measure such knowledge, none have examined item-level differences related to teacher characteristics (i.e., experience, degree and instructional time use).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>In this study, we examined the psychometric properties of the 20-item <i>Teacher Knowledge Assessment: Structure of Language</i> scale using data from 337 special education teachers providing reading instruction to students with intellectual and developmental disabilities in the United States.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Out of 20 possible total points for correctly answered items, the average score was 13.2 (SD = 3.5). We conducted Rasch analysis and dropped two misfitting items, resulting in 18 items on the scale (M = 11.9; SD = 3.3). Using dichotomous teachers' years of experience (≤ 5 years vs. &gt; 5 years), education level (bachelor's or below vs. advanced) and self-reported time teaching phonics and phonemic awareness (≤ 20% vs. &gt; 20%) as focal variables, we conducted differential item functioning (DIF) analyses as part of the Rasch analysis. A greater number of items showed DIF for teacher experience or instructional time use (8 items each) than for degree (3 items), with easier and harder items identified for each subgroup.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These results evince inconsistencies in teachers' acquired foundational reading knowledge based on experience, degree and instructional time use. Structured literacy standards for teacher preparation programmes and in-service training initiatives may provide the means to address gaps in teachers' knowledge.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 12","pages":"1435-1447"},"PeriodicalIF":2.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70041","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145000692","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
Beyond Uniform Impairment: Investigating Declarative Memory Profiles in Nonspecific Mild Intellectual Disability Using Latent Profile Analysis 超越统一的损害:使用潜在特征分析调查非特异性轻度智力残疾的陈述性记忆特征。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-09-03 DOI: 10.1111/jir.70039
Urszula Sajewicz-Radtke, Bartosz M. Radtke, Paweł Jurek, Michał Olech, Ariadna Łada-Maśko

Background

Significant memory impairments are consistently observed in individuals with intellectual disabilities (ID), but considerable variability exists. This study investigated the heterogeneity of declarative memory in children and adolescents with nonspecific mild intellectual disability (NSID) to identify distinct memory profiles and potential predictors of this disability.

Methods

A latent profile analysis (LPA) was conducted on a large sample (N = 999, including 114 with NSID) using six supplementary memory indices from the Test of Memory and Learning—Second Edition (TOMAL-2). A logistic regression analysis subsequently examined the predictive power of TOMAL-2 indices for NSID diagnosis.

Results

LPA revealed two distinct memory profiles: a ‘memory impaired group’ (24% of the total sample) with below-average scores across all indices and a ‘high-performers group’ (76%) with consistently above-average scores. Individuals with NSID were significantly more likely to belong to the ‘memory impaired group’. Logistic regression analysis revealed that lower scores on the Attention/Concentration Index, Sequential Memory Index and Verbal Delayed Recall Index were the strongest predictors of NSID. However, notably, 25% of individuals with mild NSID were classified in the ‘high performers group’, exhibiting typical or above-average memory scores across multiple indices.

Conclusions

This study demonstrates significant heterogeneity in declarative memory among individuals with NSID, challenging the assumption of uniform impairment. The identified memory profiles and predictive indices offer valuable insights for more precise diagnostic assessment and the development of tailored interventions. Further research should investigate the factors contributing to this variability and explore the potential of these findings for improved support and educational strategies.

Trial Registration: NCT06215092

背景:在智力残疾(ID)的个体中一直观察到显著的记忆障碍,但存在相当大的差异。本研究调查了非特异性轻度智力残疾(NSID)儿童和青少年陈述性记忆的异质性,以确定不同的记忆特征和这种残疾的潜在预测因素。方法:采用《记忆与学习测验第二版》(TOMAL-2)中的6项补充记忆指标,对大样本(N = 999,其中NSID患者114例)进行潜在特征分析(LPA)。logistic回归分析随后检验了TOMAL-2指标对NSID诊断的预测能力。结果:LPA揭示了两种截然不同的记忆特征:“记忆受损组”(占总样本的24%)在所有指标上的得分都低于平均水平,而“表现优异组”(76%)的得分一直高于平均水平。NSID患者明显更有可能属于“记忆受损组”。Logistic回归分析显示,注意/集中指数、顺序记忆指数和言语延迟回忆指数得分较低是NSID的最强预测因子。然而,值得注意的是,25%的轻度NSID患者被归类为“高绩效组”,在多个指数中表现出典型或高于平均水平的记忆得分。结论:本研究证明了NSID患者陈述性记忆的显著异质性,挑战了统一损害的假设。确定的记忆概况和预测指数为更精确的诊断评估和量身定制的干预措施的发展提供了有价值的见解。进一步的研究应调查造成这种差异的因素,并探讨这些发现在改善支助和教育战略方面的潜力。试验注册:NCT06215092。
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引用次数: 0
Keynote Abstracts for Presentation at the SSBP 27th International Research Symposium and Educational Day, Amsterdam, the Netherlands 在荷兰阿姆斯特丹举行的SSBP第27届国际研究研讨会和教育日上的主题摘要。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-09-02 DOI: 10.1111/jir.70031
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引用次数: 0
Towards Personalised Care for Rare Genetic Disorders 迈向罕见遗传疾病的个体化护理。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-09-02 DOI: 10.1111/jir.70029
Agnies M. van Eeghen, Erik Boot
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引用次数: 0
Abstracts for Presentation at the SSBP 27th International Research Symposium and Educational Day, Amsterdam, the Netherlands SSBP第27届国际研究研讨会暨教育日报告摘要,荷兰阿姆斯特丹。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-09-02 DOI: 10.1111/jir.70030
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引用次数: 0
Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome 天使综合症患者家庭的父母压力与家庭生活质量。
IF 2 2区 医学 Q1 EDUCATION, SPECIAL Pub Date : 2025-09-02 DOI: 10.1111/jir.70020
Catherine Merton, Angela Gwaltney, Anna Booman, Sarah Nelson Potter, Anne C. Wheeler, Rene L. Barbieri-Welge, Lucia T. Horowitz, Rachel J. Hundley, Lynne M. Bird, Wen-Hann Tan, Anjali Sadhwani

Background

Angelman syndrome (AS) is a developmental disorder caused by one of four molecular aetiologies. Affected individuals have intellectual disability (ID), limited speech, seizures and sleep problems. Parents of individuals with AS exhibit elevated stress compared to parents of individuals with other IDs. We examined parental stress and family quality of life (FQOL) over time in families of individuals living with AS.

Methods

Data were collected in a natural history study of AS. The Parenting Stress Index, Third Edition (PSI) and the Beach Center FQOL Scale assessed parental stress and FQOL. Stress and FQOL were examined across AS molecular subtypes, and predictors were analysed using a generalised linear model. Relationships between parental stress and FQOL were examined using Pearson correlations and a stepwise mixed-linear model approach.

Results

Our sample consisted of 231 families of individuals living with AS. Parental stress was clinically elevated and was highest in families of individuals with UBE3A pathogenic variants, whereas FQOL did not differ across subtypes in most domains. Increasing age predicted a decrease in parental stress but did not predict FQOL. Elevated parental stress was additionally predicted by maladaptive behaviours and child male sex, whereas lower FQOL was predicted by child male sex, parent marital status and family income. Parental stress had a small negative impact on FQOL.

Conclusions

Stress is elevated in parents of individuals with AS across subtypes and has a negative impact on FQOL. Interventions to reduce stress have the potential to improve individual and family well-being.

背景:Angelman综合征(AS)是一种由四种分子病因之一引起的发育障碍。受影响的个体有智力障碍(ID)、语言受限、癫痫发作和睡眠问题。AS患者的父母比其他id患者的父母表现出更高的压力。我们研究了自闭症患者家庭中父母压力和家庭生活质量(FQOL)随时间的变化。方法:收集AS自然史研究资料。父母压力指数,第三版(PSI)和海滩中心FQOL量表评估父母压力和FQOL。在AS分子亚型中检查压力和FQOL,并使用广义线性模型分析预测因子。使用Pearson相关和逐步混合线性模型方法检验父母压力与FQOL之间的关系。结果:我们的样本包括231个AS患者家庭。父母压力在临床上升高,并且在UBE3A致病变异个体的家庭中最高,而FQOL在大多数域的亚型之间没有差异。年龄的增加可以预测父母压力的减少,但不能预测生活质量。此外,适应不良行为和子女性别可预测父母压力的升高,而子女性别、父母婚姻状况和家庭收入可预测家庭生活质量的降低。父母压力对FQOL有较小的负向影响。结论:不同亚型AS患者的父母压力均升高,并对FQOL产生负面影响。减轻压力的干预措施有可能改善个人和家庭的福祉。
{"title":"Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome","authors":"Catherine Merton,&nbsp;Angela Gwaltney,&nbsp;Anna Booman,&nbsp;Sarah Nelson Potter,&nbsp;Anne C. Wheeler,&nbsp;Rene L. Barbieri-Welge,&nbsp;Lucia T. Horowitz,&nbsp;Rachel J. Hundley,&nbsp;Lynne M. Bird,&nbsp;Wen-Hann Tan,&nbsp;Anjali Sadhwani","doi":"10.1111/jir.70020","DOIUrl":"10.1111/jir.70020","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Angelman syndrome (AS) is a developmental disorder caused by one of four molecular aetiologies. Affected individuals have intellectual disability (ID), limited speech, seizures and sleep problems. Parents of individuals with AS exhibit elevated stress compared to parents of individuals with other IDs. We examined parental stress and family quality of life (FQOL) over time in families of individuals living with AS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data were collected in a natural history study of AS. The Parenting Stress Index, Third Edition (PSI) and the Beach Center FQOL Scale assessed parental stress and FQOL. Stress and FQOL were examined across AS molecular subtypes, and predictors were analysed using a generalised linear model. Relationships between parental stress and FQOL were examined using Pearson correlations and a stepwise mixed-linear model approach.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our sample consisted of 231 families of individuals living with AS. Parental stress was clinically elevated and was highest in families of individuals with <i>UBE3A</i> pathogenic variants, whereas FQOL did not differ across subtypes in most domains. Increasing age predicted a decrease in parental stress but did not predict FQOL. Elevated parental stress was additionally predicted by maladaptive behaviours and child male sex, whereas lower FQOL was predicted by child male sex, parent marital status and family income. Parental stress had a small negative impact on FQOL.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Stress is elevated in parents of individuals with AS across subtypes and has a negative impact on FQOL. Interventions to reduce stress have the potential to improve individual and family well-being.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"69 9","pages":"822-839"},"PeriodicalIF":2.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.70020","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957196","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}
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Journal of Intellectual Disability Research
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