Journal of Intellectual Disability Research最新文献_第2页

A comprehensive overview of neuropsychiatric symptoms in adolescents with 22q11.2 deletion syndrome. 全面概述 22q11.2 缺失综合征青少年的神经精神症状。

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2024-10-22 DOI: 10.1111/jir.13196

I Selten, J Blok, T Boerma, A A A M J Djelantik, M Houben, F Wijnen, J Zinkstok, J A S Vorstman, A M Fiksinski

Background: The 22q11.2 deletion syndrome (22q11DS) is associated with a variety of neuropsychiatric outcomes that vary across deletion carriers. We adopted a dimensional approach to provide a comprehensive overview of neuropsychiatric symptom expression in adolescents with 22q11DS and further our understanding of the observed phenotypical heterogeneity.

Methods: Participants were 208 adolescents with 22q11DS between 10 and 19 years old. Semi-structured clinical interviews and IQ tests were used to quantify symptom expression on multiple symptom dimensions, some reflecting DSM-IV diagnostic domains. We investigated symptom expression in those with and without a formal DSM-IV classification and examined between and within symptom dimensions. We used correlation analyses to explore associations between different symptom dimensions.

Results: We demonstrated inter-individual differences in symptom expression, both between and within neuropsychiatric symptom dimensions. On most symptom dimensions, more than 50% of adolescents expressed at least one clinically relevant symptom. In addition, a significant proportion of youth without a formal DSM-IV diagnosis reported clinically relevant symptoms (e.g. >85% of those without an ADHD diagnosis reported ADHD symptoms). The exploratory correlation analysis indicated mostly positive correlations between symptom dimensions.

Conclusions: The finding that most adolescents with 22q11DS express neuropsychiatric symptoms, even in the absence of a DSM-IV classification, has substantial ramifications for guiding adequate support. Findings may spur further research into the dimensional structure of neuropsychiatric symptoms in 22q11DS and aid in uncovering mechanisms that contribute to symptom expression. Ultimately, this provides leads to improve clinical care for 22q11DS and to understand phenotypical variation in other high-risk genetic variants.

背景：22q11.2 缺失综合征（22q11DS22q11.2缺失综合征（22q11DS）与多种神经精神症状有关，不同缺失携带者的神经精神症状各不相同。我们采用了一种维度方法来全面概述 22q11DS 青少年的神经精神症状表现，并进一步了解所观察到的表型异质性：参与者为208名10至19岁患有22q11DS的青少年。采用半结构化临床访谈和智商测试来量化多个症状维度的症状表现，其中一些症状反映了 DSM-IV 诊断领域。我们调查了有DSM-IV正式分类和没有DSM-IV正式分类的患者的症状表现，并检查了症状维度之间和内部的情况。我们使用相关性分析来探讨不同症状维度之间的关联：结果：我们发现了神经精神症状维度之间和内部的个体间症状表现差异。在大多数症状维度上，50%以上的青少年至少表现出一种临床相关症状。此外，相当一部分未被DSM-IV正式诊断的青少年也报告了临床相关症状（例如，在未被诊断为多动症的青少年中，超过85%的人报告了多动症症状）。探索性相关分析表明，症状各维度之间大多呈正相关：即使在没有 DSM-IV 分类的情况下，大多数患有 22q11DS 的青少年也会表现出神经精神症状，这一发现对指导提供适当的支持具有重要意义。研究结果可能会促进对 22q11DS 神经精神症状维度结构的进一步研究，并有助于发现导致症状表现的机制。最终，这将为改善 22q11DS 的临床治疗和了解其他高风险基因变异的表型变异提供线索。

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引用次数: 0

Inpatient hospitalisations for patients with Prader–Willi syndrome: a 2019–2021 National Inpatient Sample analysis 普拉德-威利综合征患者的住院情况：2019-2021年全国住院病人抽样分析。

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2024-10-22 DOI: 10.1111/jir.13194

J. Luccarelli, T. V. Strong, T. H. McCoy Jr

Background

Prader–Willi syndrome (PWS) is a genetic disorder characterised by hyperphagia, intellectual disability and increased propensity to a range of medical disorders. To better characterise the clinical presentation of PWS across the lifespan, this study reports on the demographics and clinical diagnosis of individuals with PWS hospitalised in the United States.

Methods

The National Inpatient Sample, an all-payor administrative claims database of hospitalisations in the United States, was queried for patients with a coded diagnosis of PWS from October 2019 through December 2021. Hospitalisations for patients with PWS were matched to five non-PWS hospitalisations based on age, sex, year and hospital characteristics.

Results

There were 4400 (95% CI: 3,885 to 4,915) PWS hospitalisations, with a median age of 24. Compared to controls, PWS hospitalisations had longer hospital stays (median 5 vs. 3 days) and higher in-hospital mortality (2.2% vs. 1.3%). Infectious (19.0%) and respiratory (16.2%) diagnoses were most common for PWS patients. Codes for overweight or obesity were present in 38.1% of PWS hospitalisations, with Hispanic ethnicity was associated with a higher odds of overweight/obesity in PWS patients (aOR 1.73; 95% CI: 1.11–2.71).

Conclusions

PWS hospitalisations are characterised by higher healthcare utilisation and complexity compared to matched controls. The high prevalence of obesity and significant rates of infectious and respiratory conditions highlight specific health challenges for PWS patients. Validation of the Q87.11 administrative claims code is an essential step for ongoing health services research in this condition.

背景：普拉德-威利综合征（PWS）是一种遗传性疾病，其特点是吞咽功能亢进、智力障碍以及易患一系列内科疾病。为了更好地描述 PWS 在整个生命周期中的临床表现，本研究报告了在美国住院的 PWS 患者的人口统计学和临床诊断情况：方法：从2019年10月到2021年12月，我们查询了美国全国住院病人抽样调查（National Inpatient Sample），这是一个关于美国住院病人的全付费行政索赔数据库。根据年龄、性别、年份和医院特征，将PWS患者的住院病例与5例非PWS住院病例进行匹配：共有4400例（95% CI：3885至4915例）PWS住院病例，中位年龄为24岁。与对照组相比，PWS住院患者的住院时间更长（中位数为5天对3天），院内死亡率更高（2.2%对1.3%）。PWS患者最常见的诊断是感染（19.0%）和呼吸系统（16.2%）。38.1%的PWS住院患者存在超重或肥胖的代码，西班牙裔与PWS患者超重/肥胖的几率较高有关（aOR 1.73；95% CI：1.11-2.71）：结论：与匹配的对照组相比，PWS 患者的住院治疗具有更高的医疗利用率和复杂性。肥胖症的高发率以及感染性疾病和呼吸系统疾病的高发率凸显了PWS患者所面临的特殊健康挑战。对Q87.11行政索赔代码进行验证是对该病症进行持续医疗服务研究的必要步骤。

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引用次数: 0

Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis 雷特综合征骨科疾病的患病率：系统回顾和荟萃分析。

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2024-10-21 DOI: 10.1111/jir.13193

M. Galán-Olleros, E. González-Alguacil, V. Soto-Insuga, M. T. Vara-Arias, N. V. Ortiz-Cabrera, R. M. Egea-Gámez, J. J. García-Peñas, I. Martínez-Caballero, RTT-HNJ, Rett Syndrome Multidisciplinary Group of Hospital Infantil Universitario Niño Jesús

Background

Rett syndrome (RTT), a developmental disorder primarily affecting girls and linked to methyl-CpG binding protein-2 (MECP2) gene mutations, presents musculoskeletal abnormalities with varying prevalence across studies and age groups. Our aim was to delineate the prevalence of orthopaedic conditions in individuals with RTT.

Method

Three databases were searched and independently screened by two reviewers to retrieve observational studies published after 2000 that recruited 10 or more patients diagnosed with RTT and reported the prevalence of any orthopaedic conditions (scoliosis, hip displacement, knee problems or foot deformities). A random-effects meta-analysis was performed to determine the pooled prevalence based on study weight.

Results

Of 867 screened studies, 21 studies involving 9997 girls with RTT (mean age 14.1 years; range, 3–38.5) met the inclusion criteria. The pooled prevalence of scoliosis was 64.5% [95% confidence interval (CI) 55.4–73.6%; I² = 99%; P < 0.01], of hip displacement was 29.6% (95% CI 8.9–50.2%; I² = 97%; P < 0.01) and of foot deformities was 53% (95% CI 17.5–89.2%; I² = 98%; P < 0.01). Knee problems were reported in only one study. Scoliosis prevalence increased in studies with a high percentage of genetic testing and MECP2 positivity [69.1% (95% CI 58.9–79.2%; I² = 99%; P < 0.01)], those with a mean age over 13 years [73% (95% CI 59.1–87%; I² = 100%; P < 0.01)], and studies combining both variables [80.13% (95% CI 70.8–89.4%; I² = 81%; P < 0.01)].

Conclusions

This meta-analysis found that approximately two in three girls with RTT develop scoliosis, one in two exhibit foot deformities and one in three experience hip displacement. These findings enhance our understanding of the prevalence of orthopaedic conditions in RTT, which can guide the establishment of surveillance protocols, clinical guidelines and management strategies tailored to the needs of RTT patients.

背景：雷特综合征（RTT）是一种主要影响女孩的发育障碍，与甲基-CpG结合蛋白-2（MECP2）基因突变有关。我们的目的是界定 RTT 患者骨科疾病的发病率：我们检索了三个数据库，并由两名审稿人进行独立筛选，以检索 2000 年后发表的观察性研究，这些研究招募了 10 名或以上被诊断为 RTT 的患者，并报告了任何骨科疾病（脊柱侧弯、髋关节移位、膝关节问题或足部畸形）的患病率。我们进行了随机效应荟萃分析，以确定基于研究权重的汇总患病率：在筛选出的 867 项研究中，有 21 项研究符合纳入标准，这些研究涉及 9997 名患有 RTT 的女孩（平均年龄为 14.1 岁；年龄范围为 3-38.5 岁）。脊柱侧弯的合计患病率为 64.5% [95% 置信区间 (CI) 55.4-73.6%；I2 = 99%；P 2 = 97%；P 2 = 98%；P 2 = 99%；P 2 = 100%；P 2 = 81%；P 结论：这项荟萃分析发现，大约每三个 RTT 女孩中就有两个会出现脊柱侧弯，每两个女孩中就有一个会出现足部畸形，每三个女孩中就有一个会出现髋关节移位。这些发现加深了我们对RTT骨科疾病患病率的了解，可指导制定适合RTT患者需求的监测方案、临床指南和管理策略。

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引用次数: 0

Pay Attention to Hypertension (PAtH): Findings from a cardiovascular health promotion intervention for adults with intellectual disabilities participating in Special Olympics programming 关注高血压（PAtH）：针对参加特奥会的智障成人的心血管健康促进干预研究结果。

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2024-10-16 DOI: 10.1111/jir.13189

R. E. Ponce-Alcala, A. Cuerrier, L. Sanzone, T. Delmas, K. Roberge, A. Van Hulst

Background

Cardiovascular disease (CVD) affects adults globally. People with intellectual disabilities (PWID) may be at higher risk of CVD and associated risk factors (e.g. obesity, hypertension, and diabetes). We developed Pay Attention to Hypertension (PAtH), a cardiovascular health promotion intervention, and tested its impact on changes in blood pressure (BP), lifestyle behaviours and health-related empowerment among PWID.

Methods

PAtH was developed with a Special Olympics community organisation that supports PWID in developing self-confidence and social skills through participation in sports. The 6-month intervention consisted of 1-h individualised virtual sessions delivered monthly by nursing students/novice nurses. Sessions covered specific themes, including monitoring BP, adopting healthy lifestyles and managing stress, and were individually tailored to the capacities and needs of participants. A single group pre–post-intervention design was used to assess the intervention's effects among participants who completed the intervention and data collection. Data included baseline and follow-up BP measurements from 7-day logbooks and questionnaires assessing lifestyle behaviours [physical activity (PA), screen time and diet], and health-related empowerment.

Results

Seventy-four participants were included in the analyses. Between baseline and follow-up, there were no changes in systolic and diastolic BP, PA or leisure screen time. The proportion of participants who reported adding salt when cooking decreased from baseline to follow-up (19.7% vs. 12.7%, P = 0.034), and we found improvements for several items measuring health-related empowerment (P ≤ 0.003).

Conclusion

Improvements in health-related empowerment were found following PAtH. More intensive interventions may be needed to result in changes in lifestyle behaviours and BP. The integration of adapted cardiovascular health promotion initiatives within well-established community organisations such as Special Olympics is a promising avenue to contribute to cardiovascular health promotion among PWID.

背景：心血管疾病（CVD）影响着全球的成年人。智障人士患心血管疾病及相关风险因素（如肥胖、高血压和糖尿病）的风险可能更高。我们开发了 "关注高血压"（PAtH）这一心血管健康促进干预措施，并测试了其对智障人士血压（BP）变化、生活方式行为和健康相关能力的影响：PAtH是与一个特奥会社区组织合作开发的，该组织支持残疾人通过参加体育运动培养自信心和社交技能。为期 6 个月的干预措施包括由护理专业学生/新护士每月提供 1 小时的个性化虚拟课程。课程涵盖特定主题，包括监测血压、采用健康的生活方式和管理压力，并根据参与者的能力和需求量身定制。采用单组前后干预设计，对完成干预和数据收集的参与者进行干预效果评估。数据包括基线和随访血压测量值（来自 7 天记录本）、生活方式行为评估问卷（体育活动、屏幕时间和饮食）以及与健康相关的赋权：结果：74 名参与者参与了分析。从基线到随访期间，收缩压和舒张压、体力活动或休闲屏幕时间均无变化。从基线到随访期间，报告在烹饪时加盐的参与者比例有所下降（19.7% vs. 12.7%，P = 0.034），我们还发现，衡量健康相关能力的几个项目有所改善（P ≤ 0.003）：结论：PAtH治疗后，健康相关能力有所提高。结论：PAtH 治疗后，与健康相关的能力有所提高，但可能需要进行更深入的干预，才能改变生活方式和血压。将经过调整的心血管健康促进措施纳入特奥会等成熟的社区组织，是促进残疾人心血管健康的一个很有前景的途径。

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引用次数: 0

Comparing self-report medication data from a longitudinal study on intellectual disability and national dispensing records 比较智障纵向研究中的自我报告用药数据和国家配药记录。

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2024-10-15 DOI: 10.1111/jir.13192

A. Gorman, M. Odalović, P. McCallion, A. Paul, É. Burke, M. MacLachlan, M. McCarron, M. C. Henman, M. Moran, J. O'Connell, R. Shankar, C. Ryan, M. O'Dwyer

Background

Medication data are a valuable resource in epidemiological studies. As the most common data collection method of medication data is self-report, it is important to understand the accuracy of this in comparison with other methods such as dispensing records. The aim of this study was to compare the agreement between two different sources of medication data of older adults with intellectual disability (ID).

Methods

Self-report medication data were gathered from the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing and linked to national pharmacy dispensing records. The kappa statistic was used to measure agreement between the two data sources for psychotropic medication.

Results

The lowest agreement level was ‘moderate’ for the number of anxiolytics reported (kappa 0.56). The highest level of agreement was ‘almost perfect’ for the binary variable of antipsychotics (kappa 0.91). Other agreement results were ‘substantial’ or ‘almost perfect’.

Conclusions

Good agreement was found between the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing medication dataset and national dispensing records. Self-report medication data appear to be a valid method of data collection in psychotropic medication use in adults with ID.

背景：用药数据是流行病学研究的宝贵资源。由于最常见的药物数据收集方法是自我报告，因此了解自我报告与配药记录等其他方法相比的准确性非常重要。本研究旨在比较两种不同来源的智障老年人用药数据之间的一致性：方法：从《爱尔兰老龄化纵向研究》（Irish Longitudinal Study on Ageing）的《智障补充研究》（Intellectual Disability Supplement）中收集自我报告的用药数据，并将其与全国药房配药记录联系起来。采用卡帕统计量来衡量两个数据源在精神药物治疗方面的一致性：结果：报告的抗焦虑药物数量的最低一致性水平为 "中等"（kappa 0.56）。在抗精神病药物这一二元变量上，一致度最高的是 "几乎完全一致"（kappa 0.91）。其他一致性结果为 "基本一致 "或 "几乎完全一致"：结论：爱尔兰老龄化纵向研究药物数据集的智障补充数据与国家配药记录之间存在良好的一致性。自我报告用药数据似乎是收集智障成人精神药物使用情况的有效方法。

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引用次数: 0

The influence of assistance in home-based exercise programmes for individuals with intellectual disabilities 协助对智障人士居家锻炼计划的影响。

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2024-10-06 DOI: 10.1111/jir.13191

K. L. Noerr, R. Swinford

Background

Regular physical activity (PA) decreases the risk of comorbidities associated with a sedentary lifestyle in individuals with intellectual disabilities (IDs). They also may experience additional barriers that may prevent PA, including access, proper instruction and support. At-home PA programming is a feasible alternative to long-term adherence. This study aimed to determine (1) how an at-home DVD programme affects PA adherence and (2) the extent to which caregiver support influences PA.

Methods

Thirty-one adolescent or adult-aged participants with mild or moderate ID were randomised into a DVD or control group exercise intervention. Participants were given autonomy to choose what type of PA modality from the intervention they would like to participate in. Caregiver support during the PA was also measured.

Results

The two-way repeated-measures MANOVA demonstrated that the intervention DVD group was statistically significant, with a large effect size in PA minutes (P = 0.014, ηP² = 0.236) and rate of perceived exertion (P = 0.002, ηP² = 0.342) compared with the control group.

Conclusions

The findings demonstrated that using an adapted DVD increased PA minutes and the rate of perceived exertion without high levels of caregiver support.

背景：有规律的体育锻炼（PA）可降低智障人士（IDs）因久坐不动的生活方式而患上合并症的风险。他们还可能会遇到其他障碍，包括交通、适当的指导和支持等，这些都可能阻碍他们进行体育锻炼。居家锻炼计划是长期坚持锻炼的可行替代方案。本研究旨在确定：(1) 家庭 DVD 计划对坚持 PA 有何影响；(2) 照顾者的支持对 PA 的影响程度：31名患有轻度或中度智障的青少年或成年参与者被随机分配到DVD或对照组运动干预中。参与者可自主选择参加哪种类型的锻炼方式。此外，还对参与者在锻炼过程中的护理人员支持情况进行了测量：双向重复测量 MANOVA 显示，与对照组相比，DVD 干预组在 PA 分钟（P = 0.014，ηP2 = 0.236）和感知消耗率（P = 0.002，ηP2 = 0.342）方面具有显著的统计学效应：研究结果表明，在没有大量护理人员支持的情况下，使用改编 DVD 可以增加 PA 分钟数和感知消耗率。

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引用次数: 0

The risk of type 2-diabetes among persons with intellectual disability: a Danish population-based matched cohort study 智障人士患 2 型糖尿病的风险：一项基于丹麦人口的匹配队列研究。

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2024-10-02 DOI: 10.1111/jir.13190

A. Thorsted, S. F. Lehn, A. Kofoed-Enevoldsen, A. Andersen, A. Heltberg, S. I. Michelsen, L. C. Thygesen

Background

Previous research shows that obesity, unhealthy eating, physical inactivity and a high use of psychotropic medications are prevalent among persons with intellectual disability (ID), which might increase the risk of type 2-diabetes (T2DM). This study aims to investigate: (1) whether persons with ID have an increased risk of T2DM compared with an age- and sex-matched reference group and (2) differences in T2DM risk by sex, birth year, ID inclusion diagnosis and ID severity.

Methods

This study is a nationwide cohort study, including 65 293 persons with ID and 659 723 persons in an age- and sex-matched reference group without ID. Incidence rates for T2DM were calculated and Cox proportional regression models were used to estimate adjusted hazard ratios (aHRs) for the association between ID and T2DM. Follow-up began from the 1 January 1977 (when T2DM data were available), participants' 22nd birthday or from the date the participants immigrated to Denmark, whichever came last and continued until the onset of T2DM, emigration, death or end of follow-up (31 December 2021), whichever came first.

Results

Persons with ID had more than double risk of T2DM compared with the reference group [aHR = 2.15, 95% confidence interval (CI): 2.09–2.20]. The strongest associations were found among women, persons born between 1980 and 1999 and among persons with mild ID.

Conclusions

Persons with ID have an increased risk of T2DM. This knowledge is important in relation to the development and prioritising of preventive initiatives among persons with ID in the healthcare sector. Future research should focus on the underlying mechanisms that can explain the possible association between ID and T2DM as it allows a more targeted prevention strategy.

背景：以往的研究表明，肥胖、不健康饮食、缺乏运动和大量使用精神药物在智障人士中十分普遍，这可能会增加患 2 型糖尿病（T2DM）的风险。本研究旨在调查：(1) 与年龄和性别匹配的参照组相比，智障人士患 T2DM 的风险是否会增加；(2) 不同性别、出生年份、智障纳入诊断和智障严重程度的智障人士患 T2DM 风险的差异：本研究是一项全国性队列研究，包括 65 293 名 ID 患者和 659 723 名年龄和性别匹配的非 ID 参照组患者。研究计算了T2DM的发病率，并使用Cox比例回归模型估算了ID与T2DM之间的调整危险比（aHRs）。随访从1977年1月1日（有T2DM数据时）、参与者22岁生日或移民到丹麦之日（以时间在前者为准）开始，一直持续到T2DM发病、移民、死亡或随访结束（2021年12月31日）（以时间在前者为准）：与参照组相比，智障者患 T2DM 的风险增加了一倍多[aHR = 2.15，95% 置信区间 (CI)：2.09-2.20]。女性、1980 年至 1999 年出生者和轻度智障者的相关性最强：结论：智障人士患 T2DM 的风险增加。结论：智障人士患 T2DM 的风险增加，这对于医疗保健部门制定智障人士预防措施并确定其优先次序非常重要。未来的研究应侧重于解释智障人士与 T2DM 之间可能存在关联的潜在机制，因为这样才能制定出更有针对性的预防策略。

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引用次数: 0

Sleep problems of children with Down syndrome in northern China 中国北方唐氏综合征儿童的睡眠问题。

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2024-09-29 DOI: 10.1111/jir.13187

Y. Zhang, L. M. Li, J. N. Ding, Y. Liu, Y. Q. Yuan

Background

Limited research has looked at the present-day sleep problems among Chinese children with Down syndrome (DS). This study aimed to investigate the situation of the sleep problems of school-aged children with DS in northern China.

Methods

Parents of children with DS were a convenience sample recruited through the special education schools of Shandong Province in China. The Chinese version of the Children's Sleep Habits Questionnaire was applied to assess the sleep problems of children with DS.

Results

Parents of 334 children with DS reported the average sleep duration was 9.7 (9.3–10.2) hours per night, and 62.0% of children with DS were reported sleeping less than 10 h per night. Additionally, the total prevalence rate of sleep problems among children with DS was 69.8%. Sleep-disordered breathing (59.2%), sleep duration (33.8%) and bedtime resistance (32.0%) were the three most commonly reported sleeping problems. Younger children with DS (age 6–8 years) had severe problems with bedtime resistance, sleep anxiety and parasomnias than older children with DS (age 9–12 years) (all P < 0.05).

Conclusion

Sleep problems are prominent among children with DS in northern China and are worthy of attention. Caregivers and health professionals should raise awareness of sleep problems in this group of children and implement targeted interventions to improve their sleep quality as early as possible.

背景：有关中国唐氏综合征（DS）儿童睡眠问题的研究有限。本研究旨在调查中国北方学龄唐氏综合征儿童的睡眠问题：方法：通过山东省特殊教育学校招募唐氏综合征儿童的家长作为便利样本。采用中文版《儿童睡眠习惯问卷》评估DS儿童的睡眠问题：结果：334名DS儿童的家长表示，DS儿童每晚平均睡眠时间为9.7（9.3-10.2）小时，62.0%的DS儿童每晚睡眠时间少于10小时。此外，DS 儿童中睡眠问题的总发生率为 69.8%。睡眠呼吸障碍（59.2%）、睡眠时间（33.8%）和就寝抵抗（32.0%）是最常报告的三个睡眠问题。与年龄较大的 DS 儿童（9-12 岁）相比，年龄较小的 DS 儿童（6-8 岁）在就寝阻力、睡眠焦虑和寄生虫方面的问题更为严重（均为 P 结论：与年龄较大的 DS 儿童相比，年龄较小的 DS 儿童在就寝阻力、睡眠焦虑和寄生虫方面的问题更为严重：睡眠问题在中国北方的 DS 儿童中非常突出，值得关注。护理人员和医疗专业人员应提高对该群体儿童睡眠问题的认识，并尽早采取有针对性的干预措施来改善他们的睡眠质量。

{"title":"Sleep problems of children with Down syndrome in northern China","authors":"Y. Zhang, L. M. Li, J. N. Ding, Y. Liu, Y. Q. Yuan","doi":"10.1111/jir.13187","DOIUrl":"10.1111/jir.13187","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Limited research has looked at the present-day sleep problems among Chinese children with Down syndrome (DS). This study aimed to investigate the situation of the sleep problems of school-aged children with DS in northern China.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Parents of children with DS were a convenience sample recruited through the special education schools of Shandong Province in China. The Chinese version of the Children's Sleep Habits Questionnaire was applied to assess the sleep problems of children with DS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Parents of 334 children with DS reported the average sleep duration was 9.7 (9.3–10.2) hours per night, and 62.0% of children with DS were reported sleeping less than 10 h per night. Additionally, the total prevalence rate of sleep problems among children with DS was 69.8%. Sleep-disordered breathing (59.2%), sleep duration (33.8%) and bedtime resistance (32.0%) were the three most commonly reported sleeping problems. Younger children with DS (age 6–8 years) had severe problems with bedtime resistance, sleep anxiety and parasomnias than older children with DS (age 9–12 years) (all <i>P</i> < 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Sleep problems are prominent among children with DS in northern China and are worthy of attention. Caregivers and health professionals should raise awareness of sleep problems in this group of children and implement targeted interventions to improve their sleep quality as early as possible.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":"68 12","pages":"1422-1429"},"PeriodicalIF":2.1,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348303","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

‘It's especially good just to know that you're not the only one’: a qualitative study exploring experiences with online peer support programmes for the Fragile X community 知道你不是唯一的一个，感觉特别好"：一项定性研究，探索脆性 X 社区在线同伴支持计划的经验。

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2024-09-25 DOI: 10.1111/jir.13188

T. Haber, L. Davies, R. S. Hinman, K. L. Bennell, W. Bruce, L. Jewell, A. Borda, B. J. Lawford

Background

Accessing peer support can be difficult for people with, or carers of people with, inherited intellectual disabilities. One way to improve access is to provide services online, yet few studies have explored people's experiences with online peer support programmes. We aimed to explore experiences with such programmes for communities affected by fragile X-associated conditions.

Methods

Qualitative study involving individual semi-structured interviews with 16 people with, or carers of people with, a fragile X-associated condition (n = 4 adult premutation carriers; n = 12 parents/carers of children/adults), who participated in at least one of three online peer support programmes: educational webinars, Facebook discussion group and small peer group sessions via Zoom. Reflexive thematic analysis was used to develop themes.

Results

Three overarching themes relating to experiences were as follows: (1) uncertainty and value of shared experiences, (2) support navigating healthcare, (3) advantages being online, but still a place for in-person events. Educational webinars were perceived to be a valuable source of information about fragile X-associated conditions although people had variable information needs. Facebook discussion groups enabled people to connect with others, although participants expressed some competing preferences for how the groups were organised. Zoom peer group sessions were perceived to help participants feel supported by others, but that consistency in organisation was important.

Conclusions

Online peer support programmes were perceived to be beneficial, bridging informational gaps and facilitating social connection. However, participants believed there was still a place for in-person events, some felt educational webinars did not always meet their needs and some had privacy concerns.

背景：对于遗传性智障人士或其照顾者来说，获得同伴支持可能很困难。改善获取途径的方法之一是在网上提供服务，但很少有研究探讨人们对网上同伴支持计划的体验。我们的目标是为受脆性 X 相关疾病影响的社区探索使用此类计划的经验：定性研究包括对 16 名脆性 X 相关疾病患者或其照顾者（n = 4 名成年突变携带者；n = 12 名儿童/成人的父母/照顾者）进行个人半结构式访谈，他们至少参加了三个在线同伴支持项目中的一个：教育网络研讨会、Facebook 讨论组和通过 Zoom 进行的小型同伴小组会议。研究采用了反思性主题分析法来确定主题：与经验有关的三大主题如下：(1) 分享经验的不确定性和价值，(2) 在医疗保健方面的支持，(3) 在线的优势，但仍需要面对面的活动。尽管人们对信息的需求各不相同，但教育网络研讨会被认为是有关脆性 X 相关病症的宝贵信息来源。Facebook 讨论组使人们能够与他人建立联系，尽管参与者对讨论组的组织方式表达了一些不同的偏好。Zoom同伴小组会议被认为有助于参与者感受到他人的支持，但组织的一致性也很重要：在线同伴支持计划被认为是有益的，它弥补了信息差距，促进了社会联系。然而，参与者认为仍有必要举办面对面的活动，一些人认为教育性网络研讨会并不总能满足他们的需求，还有一些人担心隐私问题。

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引用次数: 0

Comparative study of emotional facial expression recognition among Prader–Willi syndrome subtypes 普拉德-威利综合征亚型的情绪面部表情识别比较研究。

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2024-09-23 DOI: 10.1111/jir.13186

A. Perosanz, J. F. López-Paz, I. Amayra, M. García, O. Martínez

Background

Prader–Willi syndrome (PWS) is a congenital disease caused by a rare and generally non-inherited genetic disorder. The inability to recognise facial expressions of emotion is an apparent social cognition deficit in people diagnosed with PWS. The main objective of the present study is to compare the ability to recognise emotional facial expression, in both non-contextualised and contextualised scenarios, among the main subtypes of PWS and a control group.

Methods

The sample consisted of 46 children divided into three groups: deletion (n = 10), maternal uniparental disomy (mUPD) (n = 13) and control (n = 23). The protocol included the Facially Expressed Emotion Labeling and the Deusto-e-Motion 1.0.

Results

The control group recognised facial emotions more accurately and quickly in both non-contextualised and contextualised scenarios than children with PWS, regardless of genetic subtype. Despite no differences being detected between PWS subtypes when non-contextualised scenarios were analysed, in contextualised situations, a longer reaction time was observed in children with the mUPD subtype.

Conclusions

This is the first study to assess the ability to recognise emotional facial expressions in contextualised situations among PWS subtypes and a control group. The findings suggest that some of the social cognitive deficits evidenced in children with mUPD PWS may be similar to those in autism spectrum disorder.

背景：普拉德-威利综合征（PWS）是一种先天性疾病，由罕见的非遗传性遗传疾病引起。无法识别面部情绪表达是被确诊为普氏综合征患者的一个明显的社会认知缺陷。本研究的主要目的是比较 PWS 主要亚型和对照组在非情境化和情境化情景中识别面部情绪表达的能力：样本由 46 名儿童组成，分为三组：缺失组（10 人）、母系单亲断裂组（13 人）和对照组（23 人）。测试方案包括面部表情标记和 Deusto-e-Motion 1.0：与患有 PWS 的儿童相比，对照组儿童在非情境化和情境化情景中识别面部情绪的速度更快、更准确，与遗传亚型无关。尽管在分析非情境化情景时未发现PWS亚型之间存在差异，但在情境化情景中，观察到mUPD亚型儿童的反应时间更长：这是第一项评估 PWS 亚型和对照组在情境化情境中识别情绪面部表情能力的研究。研究结果表明，患有混合型多巴胺综合症的PWS儿童的某些社会认知缺陷可能与自闭症谱系障碍相似。

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引用次数: 0