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Prader-Willi syndrome in a large sample from Spain: general features, obesity and regular use of psychotropic medication. 西班牙大样本中的普拉德-威利综合征:一般特征、肥胖和经常服用精神药物。
IF 3.6 2区 医学 Q1 Medicine Pub Date : 2024-01-21 DOI: 10.1111/jir.13123
P J González-Domenech, M Gurpegui, C M González-Domenech, S Gómez-González, A Rustarazo, V Ruiz-Nieto, M D Carretero, L Gutiérrez-Rojas

Background: Prader-Willi syndrome (PWS), a genetically determined disorder, the most frequent cause of early onset obesity, is associated with physical and cognitive dysfunctions and behavioural disturbances; these disturbances are frequently treated with psychotropic medication. The aim of this cross-sectional study was to describe the characteristics of the first large national sample of persons with PWS in Spain and analyse the relationships of those characteristics with key demographic and clinical factors, particularly with obesity and the regular use of psychotropic medication.

Methods: Participants were recruited among all members of the Spanish Prader-Willi Association who agreed to take part in the study and fulfilled its inclusion criteria. Family and patient demographic features, family size and birth order, intelligence quotient (IQ), anthropometric measures, lifestyle habits, behavioural disturbances (with the Aberrant Behavior Checklist) and clinical data, as well as use of psychotropic drugs and their side effects (with the UKU scale), were collected in genetically confirmed cases of PWS. Bivariate and logistic regression analyses were used for determining the associations of demographic and clinical factors with both obesity and the regular use of psychotropic medication.

Results: The cohort included 177 participants (aged 6-48 years), that is, 90 (50.8%) males and 87 (49.2%) females. Behavioural disturbances were present in a range of 75% to 93% of participants; psychotropic medication was prescribed to 81 (45.8%) of them. Number of siblings showed a direct correlation with IQ, especially among males, and inappropriate speech was more intense in only-child females. Obesity was, in parallel, strongly associated with ascending age and with not being currently under growth hormone (GH) treatment. Participants taking any psychotropic medication were characterised by more frequent age ≥30 years, high level of hyperactivity and a psychiatric diagnosis.

Conclusions: Characterisation of persons with PWS in Spain confirms their physical and behavioural phenotype and supports the long-term application of GH therapy and the rational use of psychotropic medication.

背景:普拉德-威利综合征(PWS)是一种由基因决定的疾病,是早发性肥胖症的最常见病因,与身体和认知功能障碍以及行为紊乱有关;这些紊乱通常需要接受精神药物治疗。这项横断面研究的目的是描述西班牙首个大型全国性 PWS 患者样本的特征,并分析这些特征与主要人口和临床因素的关系,特别是与肥胖和定期使用精神药物的关系:方法:从西班牙普拉德-威利协会的所有成员中招募同意参加研究并符合纳入标准的参与者。收集了经基因证实的PWS病例的家庭和患者人口特征、家庭规模和出生顺序、智商(IQ)、人体测量、生活习惯、行为障碍(使用异常行为检查表)和临床数据,以及精神药物的使用和副作用(使用UKU量表)。采用二元和逻辑回归分析确定人口统计学和临床因素与肥胖和定期使用精神药物的关系:组群包括 177 名参与者(6-48 岁),其中男性 90 名(50.8%),女性 87 名(49.2%)。75%至93%的参与者存在行为障碍,其中81人(45.8%)服用了精神药物。兄弟姐妹的数量与智商直接相关,尤其是男性,而独生子女女性的言语不当现象更为严重。同时,肥胖与年龄的增长和目前未接受生长激素(GH)治疗密切相关。服用任何精神药物的患者年龄多在 30 岁以上,多动程度高,并被诊断患有精神疾病:西班牙PWS患者的特征证实了他们的身体和行为表型,支持长期应用生长激素治疗和合理使用精神药物。
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引用次数: 0
Correction to “The effectiveness of dance movement therapy for individuals with Down syndrome: a pilot randomised controlled trial” 更正 "舞蹈运动疗法对唐氏综合症患者的疗效:随机对照试验"。
IF 3.6 2区 医学 Q1 Medicine Pub Date : 2024-01-18 DOI: 10.1111/jir.13112

Takahashi, H., An, M., Sasai, T., Seki, M., Matsumura, T., Ogawa, Y., Matsushima, K., Tabata, A., and Kato, T. (2023) The effectiveness of dance movement therapy for individuals with Down syndrome: a pilot randomised controlled trial. Journal of Intellectual Disability Research, 67: 640654.

In the first paragraph of “Adult Behavior Checklist and Child Behavior Checklist”, 21 participants are incorrect. It should be 20 participants.

The data on the vertical and horizontal axes of control group are misaligned in Table 2. The correct table is as follow:

We apologize for this error.

Takahashi, H., An, M., Sasai, T., Seki, M., Matsumura, T., Ogawa, Y., Matsushima, K., Tabata, A., and Kato, T. (2023) The effectiveness of dance movement therapy for individuals with Down Syndrome: a pilot randomised controlled trial.Journal of Intellectual Disability Research, 67: 640-654.在 "成人行为检查表和儿童行为检查表 "的第一段中,21 名参与者是不正确的,应该是 20 名参与者。表 2 中对照组纵轴和横轴的数据错位。正确的表格如下:我们对此错误深表歉意。
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引用次数: 0
Prevalence of intellectual disability among adults born in the 1980s and 1990s in the United States 美国 20 世纪 80 年代和 90 年代出生的成年人中智障患病率。
IF 3.6 2区 医学 Q1 Medicine Pub Date : 2024-01-17 DOI: 10.1111/jir.13119
T. W. Benevides, B. Datta, J. Jaremski, M. McKee

Background

Prevalence of intellectual disability (ID) is currently estimated through parent report on surveys of children. It is difficult to estimate the number of adults living with ID in the United States because no comprehensive survey or surveillance allows for identification. The purpose of this study was to estimate the prevalence and number of adults with ID born between 1980 and 1999 using multiple years of the National Health Interview Survey (NHIS) and Census data.

Methods

We concatenated the NHIS from 1997–2016 that evaluated parental response about whether a child aged 3–17 years had an ID. Using weighted survey analyses, we estimated the prevalence of ID among individuals across four birth cohorts—(1) 1980–1984, (2) 1985–1989, (3) 1990–1994, and (4) 1995–1999. The number of adults with ID was then extrapolated by applying these prevalence rates to Census population estimates (as of 1 July 2021) of respective birth cohorts.

Results

Weighted prevalence of ID varied by birth cohort, sex, race and ethnicity, and US Census Bureau regions. The overall prevalence rate was 1.066 [95% confidence interval (CI): 0.831–1.302] for adults born between 1980 and 1984, 0.772 (CI: 0.654–0.891) for adults born between 1985 and 1989, 0.774 (0.675–0.874) for adults born between 1990 and 1994, and 1.069 (CI: 0.898–1.240) for adults born between 1995 and 1999. Overall, we estimate that 818 564 adults with ID who were approximately 21–41 years were living in the United States as of 2021.

Conclusions

This study provides researchers examining adult health outcomes with an estimated denominator of young and middle-aged adults living with ID in the United States. Policymakers can use this information to support justification for resource and service needs, and clinicians may benefit from understanding that ID is a lifelong developmental condition often with additional physical, emotional and developmental needs requiring tailored care.

背景:智障(ID)的患病率目前是通过对儿童进行调查时家长的报告来估算的。由于没有全面的调查或监测可以进行识别,因此很难估计美国智障成人的人数。本研究的目的是利用多年的全国健康访谈调查(NHIS)和人口普查数据,估算出 1980 年至 1999 年间出生的成年智障人士的患病率和人数:我们汇总了 1997-2016 年的全国健康访谈调查(NHIS)数据,这些数据评估了父母对 3-17 岁儿童是否患有 ID 的回答。通过加权调查分析,我们估算了四个出生组群--(1) 1980-1984年,(2) 1985-1989年,(3) 1990-1994年,以及(4) 1995-1999年--的ID患病率。然后,将这些流行率应用于各出生组群的人口普查人口估计数(截至 2021 年 7 月 1 日),从而推算出患有智障的成年人人数:ID 的加权流行率因出生组群、性别、种族和民族以及美国人口普查局地区而异。1980-1984年出生的成年人的总患病率为1.066[95%置信区间(CI):0.831-1.302],1985-1989年出生的成年人的总患病率为0.772(CI:0.654-0.891),1990-1994年出生的成年人的总患病率为0.774(0.675-0.874),1995-1999年出生的成年人的总患病率为1.069(CI:0.898-1.240)。总体而言,我们估计截至 2021 年,有 818 564 名 21-41 岁左右的智障成年人生活在美国:这项研究为研究成人健康状况的研究人员提供了美国患有智障的中青年成人的估计分母。政策制定者可以利用这些信息来证明资源和服务需求的合理性,临床医生也可以从中受益,因为他们了解到智障是一种终生发展性疾病,通常伴随着额外的身体、情感和发展需求,需要量身定制的护理。
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引用次数: 0
Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome 对 22q11.2 缺失综合征患者进行宾大计算机化神经认知电池远程评估。
IF 3.6 2区 医学 Q1 Medicine Pub Date : 2024-01-16 DOI: 10.1111/jir.13115
L. K. White, N. Hillman, K. Ruparel, T. M. Moore, R. S. Gallagher, E. J. McClellan, D. R. Roalf, J. C. Scott, M. E. Calkins, D. E. McGinn, V. Giunta, O. Tran, T. B. Crowley, E. H. Zackai, B. S. Emanuel, D. M. McDonald-McGinn, R. E. Gur, R. C. Gur

Background

Neurocognitive functioning is an integral phenotype of 22q11.2 deletion syndrome relating to severity of psychopathology and outcomes. A neurocognitive battery that could be administered remotely to assess multiple cognitive domains would be especially beneficial to research on rare genetic variants, where in-person assessment can be unavailable or burdensome. The current study compares in-person and remote assessments of the Penn computerised neurocognitive battery (CNB).

Methods

Participants (mean age = 17.82, SD = 6.94 years; 48% female) completed the CNB either in-person at a laboratory (n = 222) or remotely (n = 162).

Results

Results show that accuracy of CNB performance was equivalent across the two testing locations, while slight differences in speed were detected in 3 of the 11 tasks.

Conclusions

These findings suggest that the CNB can be used in remote settings to assess multiple neurocognitive domains.

背景:神经认知功能是 22q11.2 缺失综合征的一个重要表型,与精神病理学的严重程度和预后有关。在无法进行亲身评估或亲身评估负担沉重的情况下,一种可远程管理的神经认知电池来评估多个认知领域尤其有利于罕见基因变异的研究。本研究比较了宾大计算机化神经认知电池(CNB)的现场评估和远程评估:参与者(平均年龄 = 17.82 岁,SD = 6.94 岁;48% 为女性)在实验室亲自完成 CNB(n = 222)或远程完成 CNB(n = 162):结果表明,两个测试地点的 CNB 准确度相当,而在 11 项任务中,有 3 项任务的速度略有差异:这些研究结果表明,CNB 可以在远程环境中用于评估多个神经认知领域。
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引用次数: 0
A brief version of the Scale of Emotional Development – Short 情绪发展量表(简易版)。
IF 3.6 2区 医学 Q1 Medicine Pub Date : 2024-01-06 DOI: 10.1111/jir.13117
T. Sappok, B. Barrett, S. Lutter

Background

The Scale of Emotional Development – Short (SED-S) captures the level of emotional development in persons with a disorder of intellectual development (DID) with 200 items on five developmental levels. The study aims to develop a brief version of the SED-S.

Methods

Based on item analysis (proportions, χ2-test, Spearman's ρ and corrected item–total correlation), a brief version of the SED-S was developed in a sample of 224 adults with a DID (n1) and validated in a second independent matched sample (n2 = 223).

Results

Item reliability ranged per item set from Cronbach's α = 0.835 to 0.924. Weighted kappa resulted in κω = 0.743 (P < 0.001, 95% confidence interval = 0.690–0.802). Overall agreement of the brief version with the original SED-S was PO = 0.7. The brief version of the SED-S showed weaknesses in distinguishing level 2 from the adjacent levels.

Conclusions

The brief version of the SED-S showed good reliability and moderate to good validity results. Items of phase 2 and, to some degree, of phase 5 should be revised to further improve the psychometric properties of the scale.

背景:情绪发展量表-简版(SED-S)通过五个发展水平的 200 个项目来反映智力发展障碍(DID)患者的情绪发展水平。本研究旨在编制简明版 SED-S:根据项目分析(比例、χ2 检验、斯皮尔曼ρ和校正项目总相关性),在 224 名智力发育障碍成人样本(n1)中开发了简明版 SED-S,并在第二个独立匹配样本(n2 = 223)中进行了验证:每组项目的信度范围为 Cronbach's α = 0.835 至 0.924。加权卡帕结果为κω = 0.743(P O = 0.7)。简明版 SED-S 在区分第 2 级和相邻级别方面存在不足:简明版 SED-S 显示出良好的信度和中度至良好的效度。结论:简明版 SED-S 显示出良好的信度和中度至良好的效度。应修订第 2 阶段的项目,并在一定程度上修订第 5 阶段的项目,以进一步提高量表的心理测量学特性。
{"title":"A brief version of the Scale of Emotional Development – Short","authors":"T. Sappok,&nbsp;B. Barrett,&nbsp;S. Lutter","doi":"10.1111/jir.13117","DOIUrl":"10.1111/jir.13117","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The <i>Scale of Emotional Development – Short</i> (<i>SED-S</i>) captures the level of emotional development in persons with a disorder of intellectual development (DID) with 200 items on five developmental levels. The study aims to develop a brief version of the SED-S.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Based on item analysis (proportions, <i>χ</i><sup>2</sup>-test, Spearman's <i>ρ</i> and corrected item–total correlation), a brief version of the SED-S was developed in a sample of 224 adults with a DID (<i>n</i><sub>1</sub>) and validated in a second independent matched sample (<i>n</i><sub>2</sub> = 223).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Item reliability ranged per item set from Cronbach's <i>α</i> = 0.835 to 0.924. Weighted kappa resulted in <i>κ</i><sub><i>ω</i></sub> = 0.743 (<i>P</i> &lt; 0.001, 95% confidence interval = 0.690–0.802). Overall agreement of the brief version with the original SED-S was <i>P</i><sub><i>O</i></sub> = 0.7. The brief version of the SED-S showed weaknesses in distinguishing level 2 from the adjacent levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The brief version of the SED-S showed good reliability and moderate to good validity results. Items of phase 2 and, to some degree, of phase 5 should be revised to further improve the psychometric properties of the scale.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13117","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139111008","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
Cholelithiasis prevalence and risk factors in individuals with severe or profound intellectual and motor disabilities 重度或极重度智力和运动障碍患者的胆石症患病率和风险因素。
IF 3.6 2区 医学 Q1 Medicine Pub Date : 2024-01-06 DOI: 10.1111/jir.13113
A. Watanabe, Y. Tomioka, Y. Okata, S. Yoshimura, S. Kumode, S. Iwabuchi, Y. Kameoka, Y. Takanarita, K. Uemura, Y. Samejima, Y. Kawasaki, Y. Bitoh

Background

The prevalence and risk factors of cholelithiasis in individuals with severe or profound intellectual and motor disabilities (SPIMD) are poorly characterised. Thus, we aimed to investigate the prevalence and risk determinants of cholelithiasis in a cohort with SPIMD under medical care in a residential facility.

Methods

We categorised 84 patients in a residential hospital for persons with SPIMD into groups: those with (Group CL) and without (Group N) cholelithiasis. Gallstones were detected via computed tomography, ultrasonography or both. We evaluated gastrostomy status, nutritional and respiratory support, constipation, and bladder and kidney stones. Data were significantly analysed using univariate and multivariate logistic regression analyses.

Results

The prevalence rate of cholelithiasis in our SPIMD cohort was 27%. There were no significant differences in sex, age, weight, height, or Gross Motor Function Classification System between the two groups. However, more patients received enteral nutrition (39.13% vs. 6.56%; P = 0.000751) and were on ventilator support (56.52% vs. 19.67%; P = 0.00249) in Group CL than in Group N. Enteral nutrition [odds ratio (OR) 10.4, 95% confidence interval (CI) 1.98–54.7] and ventilator support (OR 20.0, 95% CI 1.99–201.0) were identified as independent risk factors for the prevalence of cholelithiasis in patients with SPIMD.

Conclusions

Patients with SPIMD demonstrated an increased prevalence of cholelithiasis, with a notable association between nutritional tonic use and respiratory support. Therefore, to emphasise the need for proactive screening, it is crucial to devise diagnostic and therapeutic strategies specific to patients with SPIMD. Further investigation is essential to validate our findings and explore causative factors.

背景:对重度或极重度智力和运动障碍患者(SPIMD)胆石症的患病率和风险因素了解甚少。因此,我们旨在调查在寄宿机构接受医疗护理的 SPIMD 患者中胆石症的患病率和风险决定因素:我们将一家为 SPIMD 患者提供住院治疗的医院的 84 名患者分为两组:有胆石症(CL 组)和无胆石症(N 组)。胆结石通过计算机断层扫描、超声波检查或两者同时进行检测。我们对胃造瘘情况、营养和呼吸支持、便秘、膀胱和肾结石进行了评估。通过单变量和多变量逻辑回归分析对数据进行了重要分析:结果:我们的SPIMD队列中胆石症的发病率为27%。两组患者在性别、年龄、体重、身高或粗大运动功能分级系统方面无明显差异。然而,与 N 组相比,CL 组接受肠内营养(39.13% 对 6.56%;P = 0.000751)和呼吸机支持(56.52% 对 19.67%;P = 0.00249)的患者更多。4,95% 置信区间 (CI) 1.98-54.7]和呼吸机支持(OR 20.0,95% CI 1.99-201.0)被确定为 SPIMD 患者胆石症患病率的独立风险因素:结论:SPIMD 患者的胆石症发病率较高,营养补品的使用与呼吸机支持之间存在显著关联。因此,为了强调主动筛查的必要性,制定针对 SPIMD 患者的诊断和治疗策略至关重要。为了验证我们的研究结果并探索致病因素,进一步的调查是必不可少的。
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引用次数: 0
The relationship between the severity of intellectual and developmental disabilities (IDDs) in adults with IDDs and eating and drinking problems and nutritional status 成人智力和发育障碍(IDDs)的严重程度与饮食问题和营养状况之间的关系。
IF 3.6 2区 医学 Q1 Medicine Pub Date : 2024-01-06 DOI: 10.1111/jir.13114
M. E. Öztürk, N. Yabanci Ayhan

Background

Adults with intellectual and developmental disabilities (IDDs) experience eating, drinking and swallowing problems, such as chewing problems, choking, gagging, coughing during eating, aspiration and rumination syndrome, which may lead to poor nutritional status. This study aimed to determine the relationship between IDD levels, eating, drinking and swallowing problems and nutritional status in adults with IDDs.

Methods

The sample consisted of 71 participants (37 men and 34 women) with a mean age of 22.5 ± 7 years (range 18–60 years). Professionals classified intellectual disability as mild, moderate or severe. The Screening Tool of Feeding Problems scale was applied to the caregivers of adults with IDDs to identify eating, drinking and swallowing problems. Dietary intake was assessed using a 24-h dietary recall and a food and nutrition photograph catalogue. The researchers measured body weight, height and middle upper arm circumference. Body mass index was calculated. Four body mass index categories were determined: underweight (<18.5 kg/m2), normal weight (18.5–24.9 kg/m2), overweight (25.0–29.9 kg/m2) and obese (≥30 kg/m2). Chi-squared tests were used to detect the relationship between IDD levels and eating and drinking problems, and analysis of variance tests were conducted to detect the relationship between IDD levels with anthropometric measurements and dietary intake.

Results

Participants had mild (42.3%; n = 30), moderate (29.6%; n = 21) or severe IDD (28.2%; n = 20). They were underweight (12.7%; n = 9), normal weight (59.2%; n = 42) or overweight and/or obese (28.2%; n = 20). Participants with severe IDD had significantly higher Screening Tool of Feeding Problems ‘nutrition-related behaviour’ and ‘eating and drinking skill deficit problem’ sub-scale scores than those with mild IDD. However, the groups had no significant difference in ‘food refusal and selectivity’ sub-scale scores. Participants with severe IDD also had anorexia prevalence similar to those with mild IDD. The groups did not significantly differ in anthropometric measurements, daily energy intake and macronutrient and micronutrient intake.

Conclusions

While adults with severe IDD had more eating and drinking skill deficits (e.g. chewing problems and independent eating difficulties) and nutrition-related behaviour problems than those with mild IDD, the eating, drinking and swallowing problems, which may critically affect

背景:有智力和发育障碍(IDD)的成年人会遇到吃、喝和吞咽问题,如咀嚼问题、窒息、吞咽、进食时咳嗽、吸入和反刍综合征,这可能会导致营养状况不良。本研究旨在确定成人 IDD 患者的 IDD 水平、进食、饮水和吞咽问题与营养状况之间的关系:样本包括 71 名参与者(37 名男性和 34 名女性),平均年龄为 22.5 ± 7 岁(18-60 岁不等)。专业人员将智障分为轻度、中度和重度。喂养问题筛查工具量表适用于成年智障人士的照顾者,以识别进食、饮水和吞咽问题。膳食摄入量是通过 24 小时膳食回忆和食物与营养照片目录进行评估的。研究人员测量了体重、身高和中上臂围。体重指数被计算出来。确定了四个体重指数类别:体重不足(2)、体重正常(18.5-24.9 kg/m2)、超重(25.0-29.9 kg/m2)和肥胖(≥30 kg/m2)。采用卡方检验检测IDD水平与饮食问题之间的关系,采用方差分析检验检测IDD水平与人体测量和饮食摄入量之间的关系:结果:受试者患有轻度(42.3%;n = 30)、中度(29.6%;n = 21)或重度 IDD(28.2%;n = 20)。他们体重不足(12.7%;n = 9)、体重正常(59.2%;n = 42)或超重和/或肥胖(28.2%;n = 20)。严重 IDD 参与者的 "喂养问题筛查工具""营养相关行为 "和 "饮食技能不足问题 "子量表得分明显高于轻度 IDD 参与者。不过,两组在 "食物拒绝和选择性 "分量表得分上没有明显差异。重度 IDD 患者的厌食症发生率也与轻度 IDD 患者相似。两组在人体测量、每日能量摄入、宏量营养素和微量营养素摄入方面没有明显差异:虽然重度IDD成人比轻度IDD成人有更多的饮食技能缺陷(如咀嚼问题和独立进食困难)和与营养相关的行为问题,但可能严重影响其食物摄入量的饮食和吞咽问题与轻度IDD成人相似。重度智障成人的人体测量数据、能量和营养素摄入量与轻度智障成人没有显著差异。研究结果表明,成人智障者的营养缺乏和营养行为问题可能是可以避免的。
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引用次数: 0
Relationship between sensory processing patterns and gross motor function of children and adolescents with Down syndrome and typical development: a cross-sectional study 唐氏综合症儿童和青少年与典型发育儿童和青少年的感觉处理模式和粗大运动功能之间的关系:一项横断面研究。
IF 3.6 2区 医学 Q1 Medicine Pub Date : 2024-01-06 DOI: 10.1111/jir.13118
B. H. Brugnaro, M. F. Pauletti, C. R. G. Lima, B. N. Verdério, R. I. Fonseca-Angulo, B. Romão-Silva, A. C. de Campos, P. Rosenbaum, N. A. C. F. Rocha

Background

Children and adolescents with Down syndrome (DS) may experience impairments in sensory and motor skills that can be interrelated. The purposes of this study were (i) to compare the sensory processing patterns and gross motor function between children and adolescents with DS and with typical development (TD) and (ii) to explore associations between these areas in both DS and TD groups.

Method

This cross-sectional study involved a sample size of 25 participants with DS (mean age 10.24 ± 2.04 years) and 25 participants with TD (mean age 10.04 ± 2.82 years). The sensory processing patterns were assessed using the Sensory Profile Second Version questionnaire, and the gross motor function was measured with the Gross Motor Function Measure (GMFM-88) dimensions (D) standing, and (E) walking, running, and jumping. Differences between groups were tested using the Mann–Whitney test, and the relationship between the variables was examined using Spearman's correlation tests, with a significance level set at 5%.

Results

Children with DS showed greater difficulties with sensory processing than TD children in Seeker (P < 0.001), Avoider (P < 0.001), Sensitivity (P < 0.001), Registration (P < 0.001), Auditory (P < 0.001), Touch (P = 0.001), Movements (P = 0.001), Oral (P = 0.028), Conduct (P = 0.005), Socioemotional (P < 0.001), and Attentional (P < 0.001) domains. Additionally, children with DS presented lower gross motor function than TD in GMFM-88, standing (P < 0.001) and walking, running, and jumping (P < 0.001). Correlations were found between greater difficulties with sensory processing in Touch and lower gross motor function in walking, running, and jumping for the DS group.

Conclusion

Our results suggest there are more difficulties in sensory processing patterns and gross motor function in children with DS than in TD. Also, there is a single association between more difficulties in sensory processing and less well-developed motor function in the DS group. Therefore, a comprehensive assessment of all these aspects should be performed in children and adolescents with DS, along with the provision of relevant interventions addressing specific needs.

背景:患有唐氏综合症(DS)的儿童和青少年可能在感觉和运动技能方面存在障碍,而这些障碍可能是相互关联的。本研究的目的是:(i) 比较患有唐氏综合症的儿童和青少年与典型发育(TD)儿童和青少年的感觉处理模式和粗大运动功能;(ii) 探讨唐氏综合症组和典型发育组在这些方面的关联:这项横断面研究涉及 25 名 DS 患者(平均年龄为 10.24±2.04 岁)和 25 名 TD 患者(平均年龄为 10.04±2.82 岁)。感觉处理模式通过 "感觉档案第二版 "问卷进行评估,粗大运动功能通过 "粗大运动功能测量(GMFM-88)"(D)站立和(E)走、跑、跳等维度进行测量。组间差异采用曼-惠特尼检验,变量之间的关系采用斯皮尔曼相关检验,显著性水平设定为5%:结果:在 Seeker 中,DS 儿童在感官处理方面比 TD 儿童表现出更大的困难(P 结论:我们的结果表明,DS 儿童在感官处理方面比 TD 儿童表现出更大的困难:我们的结果表明,与 TD 儿童相比,DS 儿童在感觉处理模式和粗大运动功能方面存在更多困难。此外,在 DS 组中,感觉处理方面的困难较多与运动功能发育较差之间存在单一关联。因此,应该对患有 DS 的儿童和青少年的所有这些方面进行全面评估,并针对具体需求提供相关干预措施。
{"title":"Relationship between sensory processing patterns and gross motor function of children and adolescents with Down syndrome and typical development: a cross-sectional study","authors":"B. H. Brugnaro,&nbsp;M. F. Pauletti,&nbsp;C. R. G. Lima,&nbsp;B. N. Verdério,&nbsp;R. I. Fonseca-Angulo,&nbsp;B. Romão-Silva,&nbsp;A. C. de Campos,&nbsp;P. Rosenbaum,&nbsp;N. A. C. F. Rocha","doi":"10.1111/jir.13118","DOIUrl":"10.1111/jir.13118","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Children and adolescents with Down syndrome (DS) may experience impairments in sensory and motor skills that can be interrelated. The purposes of this study were (i) to compare the sensory processing patterns and gross motor function between children and adolescents with DS and with typical development (TD) and (ii) to explore associations between these areas in both DS and TD groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>This cross-sectional study involved a sample size of 25 participants with DS (mean age 10.24 ± 2.04 years) and 25 participants with TD (mean age 10.04 ± 2.82 years). The sensory processing patterns were assessed using the Sensory Profile Second Version questionnaire, and the gross motor function was measured with the Gross Motor Function Measure (GMFM-88) dimensions (D) <i>standing</i>, and (E) <i>walking, running, and jumping</i>. Differences between groups were tested using the Mann–Whitney test, and the relationship between the variables was examined using Spearman's correlation tests, with a significance level set at 5%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Children with DS showed greater difficulties with sensory processing than TD children in Seeker (<i>P</i> &lt; 0.001), Avoider (<i>P</i> &lt; 0.001), Sensitivity (<i>P</i> &lt; 0.001), Registration (<i>P</i> &lt; 0.001), Auditory (<i>P</i> &lt; 0.001), Touch (<i>P</i> = 0.001), Movements (<i>P</i> = 0.001), Oral (<i>P</i> = 0.028), Conduct (<i>P</i> = 0.005), Socioemotional (<i>P</i> &lt; 0.001), and Attentional (<i>P</i> &lt; 0.001) domains. Additionally, children with DS presented lower gross motor function than TD in GMFM-88, <i>standing</i> (<i>P</i> &lt; 0.001) and <i>walking, running, and jumping</i> (<i>P</i> &lt; 0.001). Correlations were found between greater difficulties with sensory processing in Touch and lower gross motor function in <i>walking, running, and jumping</i> for the DS group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our results suggest there are more difficulties in sensory processing patterns and gross motor function in children with DS than in TD. Also, there is a single association between more difficulties in sensory processing and less well-developed motor function in the DS group. Therefore, a comprehensive assessment of all these aspects should be performed in children and adolescents with DS, along with the provision of relevant interventions addressing specific needs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139111010","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
A profile of spatial abilities in people with Down syndrome 唐氏综合症患者的空间能力概况
IF 3.6 2区 医学 Q1 Medicine Pub Date : 2023-12-10 DOI: 10.1111/jir.13111
A. Bracken, J. Hauss, S. Grinshpun, D. Lasc, A. Hershkovich, Y. Yang

Background

Spatial abilities are fundamental cognitive abilities, have direct applications in daily life, serve as a cognitive foundation for many other complex skills and are used in many specialty jobs. The current study aimed to systematically and comprehensively evaluate the spatial abilities of individuals with Down syndrome (DS) relative to mental ability-matched typically developing (TD) children based on Newcombe and Shipley's double-dimension theoretical framework for classifying spatial abilities.

Methods

Forty adolescents and young adults with DS and 40 TD children completed a nonverbal intelligence test (Raven's), two measures of static–extrinsic skills (water-level task and cart task), two measures of static–intrinsic skills (figure ground and form completion), two measures of dynamic–extrinsic skills (three mountains task and dog task) and two measures of dynamic–intrinsic spatial skills (mental rotation task and block design task).

Results

Participants with DS showed reduced performance on two dynamic–intrinsic tasks and one static–extrinsic task (i.e. cart task) relative to TD children. Performances were similar in two dynamic–extrinsic tasks and two static–intrinsic tasks. Analyses of composite accuracy for each spatial category further confirmed deficits in dynamic–intrinsic and static–extrinsic categories for people with DS relative to TD children.

Conclusions

Our results showed an uneven profile of spatial abilities in people with DS relative to ability-matched TD children with particular weaknesses in comprehending and manipulating dynamic–intrinsic and static–extrinsic spatial relations. Furthermore, our research has important clinical implications for more targeted interventions to improve spatial abilities in people with DS.

空间能力是基本的认知能力,在日常生活中有直接的应用,是许多其他复杂技能的认知基础,并在许多专业工作中使用。本研究旨在基于Newcombe和Shipley的二维空间能力分类理论框架,系统、全面地评价唐氏综合症(DS)个体相对于心智能力匹配的典型发育(TD)儿童的空间能力。40名DS青少年和40名TD儿童完成了一项非语言智力测试(Raven’s)、两项静态外在技能测试(水位任务和推车任务)、两项静态内在技能测试(图形和表格完成)、两项动态外在技能测试(三山任务和狗任务)和两项动态内在空间技能测试(心理旋转任务和积木设计任务)。与TD儿童相比,DS儿童在两项动态内在任务和一项静态外在任务(即购物车任务)上表现较差。在两个动态-外在任务和两个静态-内在任务中的表现相似。对各个空间类别的综合准确度分析进一步证实了DS患者相对于TD儿童在动态-内在和静态-外在类别上的缺陷。研究结果显示,与能力匹配的孤独症儿童相比,孤独症儿童的空间能力不均衡,在理解和处理动态-内在空间关系和静态-外在空间关系方面存在明显的缺陷。此外,我们的研究对更有针对性的干预措施提高退行性椎体滑移患者的空间能力具有重要的临床意义。
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引用次数: 0
Cancer risk-factor and symptom awareness among adults with intellectual disabilities, paid and unpaid carers, and healthcare practitioners: a scoping review 智力残疾成人、有偿和无偿护理人员以及医疗保健从业人员的癌症风险因素和症状意识:范围审查
IF 3.6 2区 医学 Q1 Medicine Pub Date : 2023-12-06 DOI: 10.1111/jir.13110
N. Gil, A. Cox, K. L. Whitaker, R. S. Kerrison

Background

The physical health of people with intellectual disabilities (ID) has been identified as an area of ongoing concern and priority. Research has increasingly focused on cancer, with studies indicating that people with ID are at an increased risk of cancer and of mortality, compared with the general population. This review aims to systematically identify and synthesise the published academic literature exploring cancer risk-factor and symptom awareness among people with IDs, carers and healthcare professionals.

Methods

In line with Arksey and O'Malley's (2005) framework for scoping reviews, five incremental stages were followed: (1) identifying research question, (2) identifying relevant studies, (3) study selection, (4) extracting and charting of data, and (5) collating, summarising and reporting results. Findings were reported according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for scoping reviews (PRISMA-Scr).

Results

The search strategy identified 352 records, 16 records met all eligibility criteria and were included for review. The studies address a range of areas including knowledge and awareness of cancer risk-factors and symptoms and interventions to promote awareness of cancer.

Conclusions

Cancer risk-factor and symptom awareness is low among adults with ID, paid and unpaid carers and healthcare practitioners (HCPs). Theoretically underpinned, co-designed tools and interventions to improve awareness are lacking. There is uncertainty surrounding how to best support people with ID in raising cancer awareness, even within the professional healthcare environment. There is a predominance of research on breast cancer awareness. Future studies focusing on other cancers are needed to build a complete picture of awareness among adults with IDs, paid and unpaid carers, and HCPs.

背景:智力残疾者的身体健康已被确定为一个持续关注和优先考虑的领域。研究越来越多地关注癌症,研究表明,与普通人群相比,患有躁郁症的人患癌症和死亡的风险更高。本综述旨在系统地识别和综合已发表的学术文献,探讨id患者、护理人员和医疗保健专业人员的癌症危险因素和症状意识。方法:根据Arksey和O'Malley(2005)的范围评估框架,遵循五个渐进阶段:(1)确定研究问题,(2)确定相关研究,(3)研究选择,(4)提取和绘制数据图表,(5)整理、总结和报告结果。根据系统评价和荟萃分析扩展范围评价的首选报告项目(PRISMA-Scr)报告研究结果。结果:检索策略确定了352条记录,16条记录符合所有资格标准并纳入审查。这些研究涉及一系列领域,包括对癌症风险因素和症状的认识和认识,以及促进对癌症认识的干预措施。结论:成年ID患者、有偿和无偿护理人员和保健医生(HCPs)的癌症危险因素和症状意识较低。缺乏有理论基础的、共同设计的工具和干预措施来提高认识。即使在专业医疗环境中,如何最好地支持ID患者提高对癌症的认识也存在不确定性。对乳腺癌认识的研究占主导地位。未来需要对其他癌症进行研究,以全面了解患有身份证的成年人、有偿和无偿护理人员以及健康护理人员的意识。
{"title":"Cancer risk-factor and symptom awareness among adults with intellectual disabilities, paid and unpaid carers, and healthcare practitioners: a scoping review","authors":"N. Gil,&nbsp;A. Cox,&nbsp;K. L. Whitaker,&nbsp;R. S. Kerrison","doi":"10.1111/jir.13110","DOIUrl":"10.1111/jir.13110","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The physical health of people with intellectual disabilities (ID) has been identified as an area of ongoing concern and priority. Research has increasingly focused on cancer, with studies indicating that people with ID are at an increased risk of cancer and of mortality, compared with the general population. This review aims to systematically identify and synthesise the published academic literature exploring cancer risk-factor and symptom awareness among people with IDs, carers and healthcare professionals.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In line with Arksey and O'Malley's (2005) framework for scoping reviews, five incremental stages were followed: (1) identifying research question, (2) identifying relevant studies, (3) study selection, (4) extracting and charting of data, and (5) collating, summarising and reporting results. Findings were reported according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for scoping reviews (PRISMA-Scr).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The search strategy identified 352 records, 16 records met all eligibility criteria and were included for review. The studies address a range of areas including knowledge and awareness of cancer risk-factors and symptoms and interventions to promote awareness of cancer.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Cancer risk-factor and symptom awareness is low among adults with ID, paid and unpaid carers and healthcare practitioners (HCPs). Theoretically underpinned, co-designed tools and interventions to improve awareness are lacking. There is uncertainty surrounding how to best support people with ID in raising cancer awareness, even within the professional healthcare environment. There is a predominance of research on breast cancer awareness. Future studies focusing on other cancers are needed to build a complete picture of awareness among adults with IDs, paid and unpaid carers, and HCPs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16163,"journal":{"name":"Journal of Intellectual Disability Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jir.13110","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138498614","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
期刊
Journal of Intellectual Disability Research
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