Journal of Intellectual Disability Research最新文献_第10页

Challenging behaviour and its correlates in preschool-aged children with an intellectual disability in Saudi Arabia 沙特阿拉伯学龄前智障儿童的挑战行为及其相关因素。

IF 3.6 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2023-12-05 DOI: 10.1111/jir.13109

S. Alarifi, L. Denne, R. P. Hastings

Background

Young children with an intellectual disability have a higher risk of developing challenging behaviour (CB). Early identification of risk factors for CB allows for earlier intervention. The aim of the current study was to assess the prevalence and correlates of CB in preschool-aged children with an intellectual disability in Riyadh (Saudi Arabia).

Methods

One hundred twenty parents of preschool-aged (3–6 years old) children who had been diagnosed (DSM-5 criteria) with an intellectual disability completed an online cross-sectional survey that included demographic, CB and child adaptive skills measures. The relationship between CB and 15 potential correlates (e.g. gender and degree of disability) was examined using independent samples t-tests and chi-squared tests.

Results

Most preschool-aged (3–6 years old) children with an intellectual disability exhibited CB (78.8%, 95% CI [70.3, 85.8]), with a 63.2% prevalence rate for self-injurious behaviours (95% C [53.8, 72.0]), a 57.6% rate for aggressive destructive behaviours (95% CI [48.2, 66.7]) and a 25% rate for stereotypy (95% CI [17.7, 34.0]). The likelihood of a child engaging in self-injurious and stereotyped behaviours was higher in those with autism and intellectual disability. Children with Down syndrome displayed fewer stereotyped behaviours. Low adaptive skill levels were associated with increased overall CB, self-injurious and stereotyped behaviours.

Conclusions

The identified correlates of CB in this population and cultural context align with the international evidence base. Findings have implications for the importance of early systematic screening of CB in preschool-aged children in Saudi Arabia and other similar contexts. Preventative measures are suggested for preschool-aged children with an intellectual disability who are more likely to demonstrate CB, such as those with autism and poor adaptive behaviours.

背景：智障幼儿出现挑战性行为（CB）的风险较高。及早发现挑战性行为的风险因素，就能及早采取干预措施。本研究旨在评估利雅得（沙特阿拉伯）学龄前智障儿童挑战行为的发生率及其相关因素：120 名学龄前（3-6 岁）儿童的家长完成了一项在线横断面调查，这些儿童被诊断为智力残疾（DSM-5 标准），调查内容包括人口统计学、CB 和儿童适应能力测量。采用独立样本 t 检验和卡方检验对 CB 与 15 个潜在相关因素（如性别和残疾程度）之间的关系进行了研究：大多数学龄前（3-6 岁）智障儿童都有自伤行为（78.8%，95% CI [70.3, 85.8]），自伤行为发生率为 63.2% (95% C [53.8, 72.0])，攻击性破坏行为发生率为 57.6% (95% CI [48.2, 66.7])，刻板行为发生率为 25% (95% CI [17.7, 34.0])。自闭症和智障儿童出现自残和刻板行为的可能性更高。患有唐氏综合症的儿童则较少出现刻板行为。适应技能水平低与整体CB、自伤行为和刻板行为的增加有关：在这一人群和文化背景中发现的 CB 相关因素与国际证据基础一致。研究结果表明，在沙特阿拉伯和其他类似的环境中，对学龄前儿童进行早期CB系统筛查非常重要。建议对更有可能表现出CB的学龄前智障儿童（如患有自闭症和适应行为差的儿童）采取预防措施。

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引用次数: 0

Clinical characteristics of people with intellectual disability admitted to hospital with constipation: identifying possible specific high-risk factors 因便秘入院的智障患者的临床特征:确定可能的特定高危因素

IF 3.6 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2023-11-30 DOI: 10.1111/jir.13108

R. Laugharne, M. Wilcock, J. Rees, D. Wainwright, N. Newton, J. Sterritt, S. Badger, R. Bishop, P. Bassett, R. Shankar

Background

People with intellectual disabilities (ID) die on an average 20 years earlier to the general population. They have higher rates of multimorbidity and polypharmacy. Around 25% of people with ID report chronic constipation. The England Learning Disabilities Mortality Review found that nearly 25% of deaths identified constipation as a long-term health problem. However, the likely risk factors for constipation related harm are poorly enumerated. We sought to identify possible specific high-risk factors by examining the clinical characteristics of people with ID admitted to hospital with constipation.

Methods

Data of people with ID admitted with constipation in two general hospitals covering a population of 1.3 million from 2017 to 2022 were reported using the STROBE guideline for cohort studies. Collected data included age, gender, intellectual disability severity, recorded medication, presenting complaint and co-morbidities. The medication anticholinergic burden was calculated using the anticholinergic burden scale. Continuous variables were summarised by mean and standard deviation if normally distributed, with categorical variables summarised by the number and percentage in each category.

Results

Of 46 admissions (males 52%), 57% had moderate to profound ID, 37% had epilepsy, 41% prescribed antiseizure medication (ASM) and 45% were on laxatives. Average age was 46 years. The anticholinergic burden score mean was 2.3 and median, one.

Conclusions

We can hypothesise that people with more severe ID, suffering from epilepsy and on ASM may be more at risk of developing severe constipation. Some admissions may be avoided with earlier use of laxatives in the community.

背景:智障人士的平均死亡时间比一般人群早20年。他们有较高的多病和多药率。大约25%的ID患者报告慢性便秘。《英格兰学习障碍死亡率回顾》发现，近25%的死亡病例认为便秘是一种长期健康问题。然而，便秘相关危害的可能风险因素却很少被列举出来。我们试图通过检查因便秘入院的ID患者的临床特征来确定可能的特定高危因素。方法:采用STROBE队列研究指南，报告2017年至2022年两家综合医院130万人口中因便秘入院的ID患者数据。收集的数据包括年龄、性别、智力残疾严重程度、用药记录、主诉和合并症。采用抗胆碱能负荷量表计算用药抗胆碱能负荷。连续变量用正态分布的平均值和标准差来概括，分类变量用每一类的数量和百分比来概括。结果:46例入院患者(男性52%)中，57%患有中度至重度ID, 37%患有癫痫，41%处方抗癫痫药物(ASM)， 45%服用泻药。平均年龄为46岁。抗胆碱能负荷评分平均值为2.3，中位数为1。结论:我们可以假设，患有更严重的ID，癫痫和ASM的人可能更容易发生严重的便秘。在社区早期使用泻药可以避免一些入院。

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引用次数: 0

Child characteristics associated with child quality of life and parenting stress in Angelman syndrome 天使人综合症中与儿童生活质量和养育压力相关的儿童特征。

IF 3.6 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2023-11-27 DOI: 10.1111/jir.13106

D. A. Hagenaar, K. G. C. B. Bindels-de Heus, K. Lubbers, L. W. ten Hoopen, A. B. Rietman, P. F. A. de Nijs, M. H. J. Hillegers, H. A. Moll, M. C. Y. de Wit, G. C. Dieleman, S. E. Mous

Background

Angelman syndrome (AS) is a rare neurodevelopmental disorder characterised by severe intellectual disability, movement disorder, epilepsy, sleeping problems, and behavioural issues. Little is known on child health-related quality of life (HRQoL) in AS. AS family studies have reported elevated parenting stress and a high impact of the child's syndrome on the parent. It is unclear which factors influence child HRQoL and parenting stress/impact in AS.

Methods

We collected data prospectively through standardised clinical assessments of children with AS at the ENCORE Expertise centre for Angelman Syndrome at the Erasmus MC Sophia Children's Hospital. A linear regression analysis was conducted for the following outcome variables: (1) child HRQoL (Infant and Toddler Quality of Life Questionnaire); (2) the impact of the child's syndrome on the parent (Infant and Toddler Quality of Life Questionnaire); and (3) parenting stress (Parenting Stress Index). Predictor variables were child genotype, epilepsy, sleeping problems (Sleep Disturbance Scale for Children), cognitive developmental level (Bayley Cognition Scale), autistic features (Autism Diagnostic Observation Schedule) and emotional/behavioural problems (Child Behaviour Checklist). Covariates were sex, age and socio-economic status.

Results

The study sample consisted of 73 children with AS, mean age = 9.1 years, range = 2–18 years. Emotional/behavioural problems were the strongest significant predictor of lowered child HRQoL. Internalising problems were driving this effect. In addition, having the deletion genotype and higher age was related to lower child HRQoL. Sleeping problems were related to a higher impact of the child's syndrome on the parent. Finally, emotional/behavioural problems were associated with higher parenting stress. Cognitive developmental level, autistic features and epilepsy were not a significant predictor of child HRQoL and parenting stress/impact.

Conclusions

These results suggest that interventions aimed at increasing child HRQoL and decreasing parenting stress/impact in AS should focus on child emotional/behavioural problems and sleeping problems, using a family-centred approach.

背景:Angelman综合征(AS)是一种罕见的神经发育障碍，以严重的智力障碍、运动障碍、癫痫、睡眠问题和行为问题为特征。对AS儿童健康相关生活质量(HRQoL)知之甚少。AS家庭研究报告了育儿压力的增加和儿童综合症对父母的高影响。目前尚不清楚哪些因素影响AS儿童的HRQoL和父母压力/影响。方法:我们通过Erasmus MC Sophia儿童医院ENCORE Angelman综合征专家中心对AS儿童的标准化临床评估收集前瞻性数据。对以下结局变量进行线性回归分析:(1)儿童HRQoL(婴幼儿生活质量问卷);(2)儿童综合症对父母的影响(婴幼儿生活质量问卷);(3)养育压力(养育压力指数)。预测变量为儿童基因型、癫痫、睡眠问题(儿童睡眠障碍量表)、认知发展水平(贝利认知量表)、自闭症特征(自闭症诊断观察表)和情绪/行为问题(儿童行为检查表)。协变量包括性别、年龄和社会经济地位。结果:研究样本为73例AS患儿，平均年龄9.1岁，范围2 ~ 18岁。情绪/行为问题是儿童HRQoL降低的最强显著预测因子。内部化问题推动了这种影响。此外，缺失基因型和年龄越大，儿童HRQoL越低。睡眠问题与孩子的综合症对父母的影响更大有关。最后，情绪/行为问题与较高的养育压力有关。认知发展水平、自闭症特征和癫痫不是儿童HRQoL和父母压力/影响的显著预测因子。结论:这些结果表明，旨在提高儿童HRQoL和减少AS父母压力/影响的干预措施应采用以家庭为中心的方法，重点关注儿童的情绪/行为问题和睡眠问题。

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引用次数: 0

The physical and psychosocial impact of a school-based running programme for adolescents with disabilities 以学校为基础的残疾青少年跑步计划的生理和心理影响。

IF 3.6 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2023-11-20 DOI: 10.1111/jir.13104

J. Campagna, K. Czyszczon, J. Little, C. Selby, L. Wick, D. Ferreira, K. Oriel

Background

Adolescents with disabilities have fewer opportunities to participate in community-based fitness programmes. The purpose of this study was to examine the impact of a school-based running programme at a local middle school in Lebanon, Pennsylvania, on fitness and quality of life (QoL) in children with physical and cognitive disabilities in a life-skills classroom.

Methods

Nineteen adolescents with diagnosed disabilities including intellectual disability (ID), autism spectrum disorder and Down syndrome were recruited from three life-skills classrooms to participate in a school-based running programme. The programme was designed to be implemented two times/week for 6 weeks by classroom teachers/aides. Physical therapy faculty and students developed the programme and assisted with implementation. Each session lasted 30 min, consisting of a warm-up and cooldown, relay races, games and timed runs. Pre- and post-test measures included physiological cost index (PCI) and Paediatric Quality of Life Inventory™ (PedsQL™). Pre- and post-test data were compared using Wilcoxon signed rank tests. Each week participants also completed a training log to reflect on the activity for the day.

Results

Participants demonstrated significant improvements in PCI (P = 0.028) and the PedsQL™ (P = 0.008) following the running programme.

Conclusions

Results of this study suggest that participation in a 6-week school-based running programme may improve fitness and QoL in adolescents with disabilities.

背景:残疾青少年参加社区健身项目的机会较少。本研究的目的是考察在宾夕法尼亚州黎巴嫩当地一所中学，以学校为基础的跑步计划对生活技能教室中身体和认知残疾儿童的健康和生活质量(QoL)的影响。方法:从三个生活技能教室招募了19名被诊断为残疾的青少年，包括智力残疾(ID)、自闭症谱系障碍和唐氏综合症，参加了一项校本跑步计划。该方案由任课教师/助理每周实施两次，为期6周。物理治疗教师和学生制定了该计划并协助实施。每次训练持续30分钟，包括热身和冷却、接力赛、游戏和计时跑。测试前后测量包括生理成本指数(PCI)和儿科生活质量量表™(PedsQL™)。采用Wilcoxon符号秩检验比较检验前后的数据。每个星期，参与者还完成了一份训练日志，以反映当天的活动。结果:参与者在PCI (P = 0.028)和PedsQL™(P = 0.008)方面表现出显著改善。结论:本研究结果表明，参加为期6周的学校跑步计划可以改善残疾青少年的健康状况和生活质量。

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引用次数: 0

Functional fitness of adults with Down syndrome: a longitudinal study 成人唐氏综合症的功能适应度:一项纵向研究。

IF 3.6 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2023-11-15 DOI: 10.1111/jir.13107

P. H. Boer

Background

Individuals with Down syndrome (DS) are born with and develop many health-related complications. The purpose of this study was to determine the longitudinal functional fitness profile of adults with DS.

Methods

The functional fitness of adults with DS was tested twice, 12 years apart. Sixty-six adults with DS were tested for body mass, stature and 10 functional fitness tests. Data were categorised according to gender and age-specific categories.

Results

Static balance, shoulder flexibility, trunk strength and aerobic capacity deteriorated significantly with medium to large effect sizes for both DS men and women (most age categories). For women, dynamic balance deteriorated significantly, and for men, leg- and upper body-strength deteriorated significantly.

Conclusions

Practitioners working in the field of adapted physical activity should take cognisance of the functional fitness ageing profile of adults with DS and timeously develop habitual physical activity interventions to reduce the effect of accelerated ageing experienced by this population.

背景:唐氏综合征(DS)患者出生时伴有许多与健康相关的并发症。本研究的目的是确定成人退行性椎体滑移的纵向功能健康状况。方法:对成人退行性痴呆患者进行两次功能适应度测试，间隔12年。对66名成人退行性痴呆患者进行了体重、身高和10项功能体能测试。数据按性别和年龄分类。结果:静态平衡、肩部柔韧性、躯干力量和有氧能力在DS男性和女性(大多数年龄组)中到大的效应量显著恶化。对于女性来说，动态平衡明显恶化，而对于男性来说，腿部和上身力量明显恶化。结论:适应性体育活动领域的从业人员应认识到成人退行性痴呆患者的功能健康老龄化特征，及时制定习惯性体育活动干预措施，以减少这一人群经历的加速衰老的影响。

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引用次数: 0

Secondary analysis of large quantitative datasets (or doing research with other people's data) 对大型定量数据集进行二次分析(或使用他人的数据进行研究)

IF 3.6 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2023-11-08 DOI: 10.1111/jir.13101

G. Llewellyn, H. Ouellette-Kuntz, E. Emerson

<p>Over the past decade, secondary analysis of large quantitative datasets has begun to make a significant contribution to furthering our understanding of the lives of people (including children and young people) with intellectual disability and the inequities they experience compared to their nondisabled peers. This critical development brings population-level understanding about the lives of people with intellectual disability into line with the more established tradition of this research approach in areas such as child development, social policy, education, sociology, economics and public health. Secondary analysis in these fields has been primarily undertaken on either large-scale health or social surveys or clinical/administrative data held by health, social, census or welfare agencies or governments. This first special issue on this topic for the <i>Journal of Intellectual Disability Research</i> demonstrates that similar benefits can result from secondary analysis as it becomes a more established feature of the intellectual disability research landscape.</p><p>Secondary analysis offers, among other benefits, the following three opportunities for improving our understanding of the lives of people with intellectual disability. The first is to better understand the overall prevalence of intellectual disability and prevalence among sub-groups of particular interest at a particular point in time and how this may change over time. The second is to describe and quantify the association between intellectual disability and indicators of health and well-being and broad social determinants of health and well-being such as income, housing, education, employment, discrimination, violence and social exclusion. Associations that may reflect risk factors for the incidence and/or prevalence of intellectual disability or the consequences of having an intellectual disability in specific contexts at a particular point in history. The third benefit comes from the opportunity to examine the barriers experienced by people with intellectual disability in accessing critical services such as health care or life opportunities such as employment and community participation. Linking national survey data and administrative datasets can bring additional opportunities such as tracing the service trajectories for people with intellectual disability and evaluating the reach of intellectual disability services compared to the nature and patterning of services and supports needs over time.</p><p>One particular benefit of secondary analysis is that it often allows each of these three areas to be explored using data that are reasonably representative of national or state/provincial populations. As such, findings from secondary analysis of large quantitative datasets can help establish points for national or regional policy change to reduce the inequities experienced by people with intellectual disability. Research using secondary analysis of large quantitative datasets can als

我们期待着二级数据分析为创造关于智力残疾者健康和福祉的全球和国家相关知识作出越来越重要的贡献。

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引用次数: 0

On-field physical activity of Special Olympics athletes and Unified Partners during the 2022 Special Olympics World Unified Cup 2022年特奥会世界联合杯期间，特奥会运动员和联合伙伴的现场体育活动。

IF 3.6 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2023-11-07 DOI: 10.1111/jir.13102

L. R. Ketcheson, E. A. Pitchford, J. Hauck, F. Loetzner

Background

Special Olympics is a sport organisation spearheading efforts to increase physical activity accessibility through inclusive sport. The Unified Sports® initiative brings together Special Olympics athletes (with intellectual disabilities) and Unified partners (without a disability) in sport training and competition on the same team. The study aims to objectively evaluate differences in on-field physical activity levels between athletes and partners during the 2022 Special Olympics World Unified Cup, an international soccer (i.e., football) competition. Participants were Special Olympics athletes (n = 96; 44 females, 52 males) and Unified partners (n = 70; 34 females and 36 males) competing in the women's and men's tournaments.

Methods

On-field actigraph accelerometry measured physical activity from 166 players, over 29 matches, and totalling 493 player-matches.

Results

In the women's tournament, nearly identical estimates of moderate-to-vigorous physical activity levels (MVPA) were observed between athletes and partners (P = .409). However, a significant group difference was observed within a specific physical activity intensity category as partners accrued more minutes of very vigorous physical activity than athletes (P < .001). In the men's tournament, no significant differences were also observed between athletes and partners for minutes of MVPA (P = .341), but athletes engaged in significantly more vigorous physical activity (P < .001), and partners had more minutes of very vigorous physical activity (P < .001).

Conclusions

The results suggest that on-field physical activity levels were similar between players with and without intellectual disabilities during Unified Sports competition.

背景：特奥会是一个体育组织，致力于通过包容性运动增加体育活动的可及性。Unified Sports®倡议将特奥会运动员（智力残疾）和Unified合作伙伴（无残疾）聚集在同一团队进行体育训练和比赛。该研究旨在客观评估2022年特奥会世界联合杯（一项国际足球比赛）期间运动员和合作伙伴在赛场上体育活动水平的差异。参与者是参加女子和男子锦标赛的特奥会运动员（n=96；44名女性，52名男性）和统一伙伴（n=70；34名女性和36名男性）。方法：现场活动记录仪加速度计测量了166名运动员的体力活动，超过29场比赛，共493场比赛。结果：在女子锦标赛中，运动员和搭档对中等至剧烈体力活动水平（MVPA）的估计几乎相同（P=.409）。然而，在特定的体育活动强度类别中，观察到显著的群体差异，因为合作伙伴比运动员进行了更多的剧烈体育活动时间（P结论：研究结果表明，在统一体育比赛中，有智力残疾和没有智力残疾的运动员的场上体育活动水平相似。

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引用次数: 0

Attention challenges in Kabuki syndrome 歌舞伎综合征的注意力挑战。

IF 3.6 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2023-11-03 DOI: 10.1111/jir.13100

A. J. Kalinousky, T. Rapp, J. R. Harris

Background

Understanding the specific neurobehavioural profile of rare genetic diseases enables clinicians to provide the best possible care for patients and families, including prognostic and treatment advisement. Previous studies suggested that a subset of individuals with Kabuki syndrome (KS), a genetic disorder causing intellectual disability and other neurodevelopmental phenotypes, have attentional deficits. However, these studies looked at relatively small numbers of molecularly confirmed cases and often used retrospective clinical data instead of standardised assessments.

Methods

Fifty-five individuals or caregivers of individuals with molecularly confirmed KS completed assessments to investigate behaviour and adaptive function. Additionally, information was collected on 23 unaffected biological siblings as controls.

Results

Attention Problems in children was the only behavioural category that, when averaged, was clinically significant, with the individual scores of nearly 50% of the children with KS falling in the problematic range. Children with KS scored significantly higher than their unaffected sibling on nearly all behavioural categories. A significant correlation was found between Attention Problems scores and adaptive function scores (P = 0.032), which was not explained by lower general cognitive ability.

Conclusions

We found that the rates of children with attentional deficits are much more elevated than would be expected in the general population, and that attention challenges are negatively correlated with adaptive function. When averaged across KS participants, none of the behavioural categories were in the clinically significant range except Attention Problems for children, which underscores the importance of clinicians screening for attention deficit hyperactivity disorder (ADHD) in children with KS.

背景：了解罕见遗传病的特定神经行为特征，使临床医生能够为患者和家属提供尽可能好的护理，包括预后和治疗建议。先前的研究表明，歌舞伎综合征（KS）是一种导致智力残疾和其他神经发育表型的遗传疾病，其一部分个体存在注意力缺陷。然而，这些研究关注的是相对较少的分子确诊病例，并且经常使用回顾性临床数据而不是标准化评估。方法：55名患有分子确诊KS的个体或其照顾者完成了行为和适应功能的评估。此外，还收集了23个未受影响的亲生兄弟姐妹作为对照的信息。结果：儿童的注意力问题是唯一一个平均而言具有临床意义的行为类别，近50%的KS儿童的个人得分属于问题范围。患有KS的儿童在几乎所有行为类别中的得分都显著高于未受影响的兄弟姐妹。注意问题得分与适应功能得分之间存在显著相关性（P=0.032），这并不能用较低的一般认知能力来解释。结论：我们发现，注意力缺陷儿童的发生率比普通人群预期的要高得多，注意力挑战与适应功能呈负相关。当对KS参与者进行平均时，除了儿童注意力问题外，没有一个行为类别在临床显著范围内，这突出了临床医生筛查KS儿童注意力缺陷多动障碍（ADHD）的重要性。

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引用次数: 0

Impaired communication ability in SOX11 syndrome SOX11综合征的沟通能力受损。

IF 3.6 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2023-11-02 DOI: 10.1111/jir.13105

H. Smith, R. Al-Jawahiri, L. Stokes, M. Freeth, S. Fricke, D. Matthews, A. McNeill

Background

Speech and language skills are important for social interaction and learning. This study characterised the communication abilities of verbal individuals with SOX11 syndrome using a standardised parent/carer questionnaire, the Children's Communication Checklist (CCC-2).

Method

Thirteen parent/carers of verbal individuals (aged 5–19 years) diagnosed with SOX11 syndrome completed the CCC-2. In order to contextualise findings, responses were compared to norms and to data from Noonan syndrome, a relatively well-known genetic diagnosis associated with communication impairment.

Results

For all individuals, the CCC-2 composite score indicated significant communication difficulties. Language structure (speech, syntax, semantics and coherence), pragmatic language (inappropriate initiation, stereotyped language use of context and non-verbal communication) and autistic features (social relations and interests) scores were lower than typically developing norms. Subscale comparisons revealed relative difference in use of context compared to other pragmatic domains (stereotyped language and inappropriate initiation). Individual scores showed substantial variation, particularly in regard to language structure profile. Differences were more pronounced than for Noonan syndrome, specifically in domains of speech, syntax, non-verbal communication and social relations.

Conclusions

SOX11 syndrome is associated with communication impairment. It is important to assess communication abilities as part of the management of individuals with SOX11 syndrome and understand individual strengths and difficulties in order to provide targeted support.

背景：言语和语言技能对社交和学习很重要。本研究使用标准化的父母/看护人问卷，即儿童沟通检查表（CCC-2），对患有SOX11综合征的言语个体的沟通能力进行了表征。为了将研究结果纳入背景，将反应与正常值和努南综合征的数据进行了比较，努南综合症是一种相对知名的与沟通障碍相关的遗传诊断。结果：对于所有个体来说，CCC-2综合评分显示出显著的沟通困难。语言结构（言语、句法、语义和连贯性）、语用语言（不恰当的启动、刻板的语言使用上下文和非语言交流）和自闭症特征（社会关系和兴趣）得分低于典型的发展规范。次尺度比较显示，与其他语用领域（刻板语言和不当启动）相比，语境使用存在相对差异。个人得分表现出很大的差异，特别是在语言结构方面。差异比努南综合征更明显，特别是在言语、句法、非言语交流和社会关系领域。结论：SOX11综合征与沟通障碍有关。作为SOX11综合征患者管理的一部分，评估沟通能力并了解个人的优势和困难以提供有针对性的支持是很重要的。

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引用次数: 0

Obesity, diabetes and their metabolic correlates in middle-aged adults with Down syndrome 中年唐氏综合症患者的肥胖、糖尿病及其代谢相关性。

IF 3.6 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research

Pub Date : 2023-10-29 DOI: 10.1111/jir.13103

J. A. Luchsinger, D. Pang, S. J. Krinsky-McHale, N. Schupf, J. H. Lee, W. Silverman, W. B. Zigman

Background

Obesity in adults without Down syndrome is associated with an adverse metabolic profile including high prevalence of pre-diabetes and diabetes, high levels of insulin, non-high-density lipoprotein (HDL) cholesterol, leptin and high-sensitivity C-reactive protein (hsCRP) and low levels of HDL and adiponectin. We examined whether obesity in middle-aged adults with Down syndrome is also related to an adverse metabolic profile.

Methods

This cross-sectional study included 143 adults with Down syndrome, with a mean age of 55.7 ± 5.7 years and 52.5% women. Body mass index (BMI) was classified as underweight (BMI < 18.5 kg/m²), normal (BMI 18.5–24.9 kg/m²), overweight (BMI 25–29.9 kg/m²) and obese (BMI ≥ 30 kg/m²). Diabetes was ascertained by history or by haemoglobin A1c (HbA1c) as normal glucose tolerance (HbA1c < 5.7%), pre-diabetes (HbA1c 5.7–6.4%) and diabetes (HbA1c ≥ 6.5%). We measured non-fasting lipids, hsCRP, insulin, adiponectin and leptin.

Results

The majority of the sample had an overweight (46.9%) or obesity (27.3%) status. However, there was a relatively low prevalence of pre-diabetes (9.8%) and diabetes (6.9%). Overweight and obesity status were not associated with lower HDL and adiponectin and higher insulin, non-HDL cholesterol and hsCRP as expected in adults without Down syndrome. However, overweight and obesity were strongly associated with higher leptin (P < 0.001).

Conclusions

The only metabolic correlate of obesity in middle-aged adults with Down syndrome was high leptin levels. Our findings are limited by non-fasting laboratory tests but suggest that middle-aged adults with Down syndrome do not have the adverse metabolic profile related to obesity found in adults without Down syndrome.

背景：非唐氏综合征成年人的肥胖与不良代谢状况有关，包括糖尿病前期和糖尿病的高患病率、高水平的胰岛素、非高密度脂蛋白（HDL）胆固醇、瘦素和高敏C反应蛋白（hsCRP）以及低水平的HDL和脂联素。我们研究了患有唐氏综合症的中年人的肥胖是否也与不良代谢状况有关。方法：这项横断面研究包括143名患有唐氏综合症的成年人，平均年龄为55.7±5.7岁，女性占52.5%。体重指数（BMI）分为体重不足（BMI 2）、正常（BMI 18.5-24.9 kg/m2）、超重（BMI 25-29.9 kg/m2）和肥胖（BMI≥30 kg/m2）。糖尿病通过病史或血红蛋白A1c（HbA1c）确定为正常糖耐量（HbA1c结果：大多数样本具有超重（46.9%）或肥胖（27.3%）状态。然而，糖尿病前期（9.8%）和糖尿病（6.9%）的患病率相对较低。在没有唐氏综合症的成年人中，超重和肥胖状态与较低的HDL和脂联素以及较高的胰岛素、非HDL胆固醇和hsCRP无关。然而超重和肥胖与瘦素水平升高密切相关（P结论：患有唐氏综合征的中年人肥胖的唯一代谢相关因素是高瘦素水平。我们的研究结果受到非禁食实验室测试的限制，但表明患有唐氏综合症的中年人没有与非唐氏综合症成年人肥胖相关的不良代谢特征。

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引用次数: 0