Intellectual disability

智力残疾
  • 文章类型: Journal Article
    智力障碍(ID)的儿童由于运动而经常在保持适当的口腔卫生方面面临挑战,感官,和智力障碍,这可能导致口腔健康受损;因此,有必要改善这些人群的口腔健康状况,并建立有效的预防干预措施系统。这里,我们旨在评估洛雷斯坦省ID患儿中牙龈内阿米巴和毛滴虫的患病率,通过寄生虫学和分子方法在伊朗西部。
    当前的描述性调查涉及215名具有ID的儿童和215名健康儿童(非ID),他们被转介到洛雷斯坦省的医疗机构,伊朗在2022年10月至2024年3月之间。通过利用显微镜分析和常规聚合酶链反应(PCR)技术发现了口腔中原生动物的流行。
    通过显微镜和PCR方法,发现有ID的儿童中牙龈大肠杆菌和T.tenax的总患病率分别为87(40.5%)和92(42.8%),分别。在阳性样本中,57名(61.9%)和35名(38.1%)儿童的牙龈大肠杆菌和T.tenax检测呈阳性,分别。相比之下,在对照组的215名非身份证儿童中,39(18.1%)和42(19.5%)通过显微镜和PCR方法检测呈阳性,分别。在非身份证儿童的阳性样本中,23例(54.7%)和19例(45.3%)儿童牙龈大肠杆菌和T.tenax阳性,分别。多元逻辑回归分析表明,居住在城市地区,父母教育,家庭月收入,刷牙p<0.001)被确定为口腔寄生虫的独立危险因素。
    这项研究确定了洛雷斯坦省ID儿童口腔寄生虫的显着患病率,伊朗西部。必须认识到与这些寄生虫相关的主要危险因素,尤其是刷牙不足,为了加强ID儿童的公共和口腔健康策略。因此,儿科牙科专业人员应该对这些风险因素保持警惕,以有效识别和解决该人群的口腔健康问题,从而减轻口腔疾病和感染的发生。
    UNASSIGNED: Children with intellectual disability (ID) often face challenges in maintaining proper oral hygiene due to their motor, sensory, and intellectual impairments, which can lead to compromised oral health; therefore, there is a need to enhance the oral health status of these populations and establish an effective system for administering preventive interventions. Here, we aimed to evaluate the prevalence of Entamoeba gingivalis and Trichomonas tenax among children with ID in Lorestan province, in Western Iran through parasitological and molecular methods.
    UNASSIGNED: The current descriptive investigation involved 215 in children with ID and 215 healthy children (non-ID) who were referred to health facilities in Lorestan province, Iran between October 2022 and March 2024. The prevalence of protozoa in the oral cavity was found through the utilization of both microscopic analysis and conventional polymerase chain reaction (PCR) techniques.
    UNASSIGNED: The total prevalence of the E. gingivalis and T. tenax in children with ID was found to be 87 (40.5%) and 92 (42.8%) through microscopic and PCR methods, respectively. Among the positive samples, 57 (61.9%) and 35 (38.1%) children tested positive for E. gingivalis and T. tenax, respectively. In contrast, among the 215 non-ID children in the control group, 39 (18.1%) and 42 (19.5%) tested positive by microscopic and PCR methods, respectively. Among positive samples in non-ID children, 23 (54.7%) and 19 (45.3%) children were positive for E. gingivalis and T. tenax, respectively. Multiple logistic regression analysis indicated that residing in urban areas, parental education, monthly family income, and tooth brushing p<0.001) were identified as independent risk factors for oral cavity parasites.
    UNASSIGNED: This study identified a notable prevalence of oral cavity parasites in children with ID in Lorestan province, Western Iran. It is imperative to recognize the primary risk factors associated with these parasites, particularly inadequate teeth brushing, in order to enhance public and oral health strategies for children with ID. Therefore, pediatric dental professionals should remain vigilant regarding these risk factors to effectively recognize and address oral health issues in this population, thereby mitigating the occurrence of oral diseases and infections.
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  • 文章类型: Journal Article
    患有聋盲和合并诊断的人,如智力和发育障碍,可能在独立方面遇到困难,特别是沟通。行为链中断策略(BCIS)是一种可能有助于提高独立性和向该人群教授交流的行为分析程序。当前的研究检查了使用BCIS来教患有严重智力障碍的65岁聋盲参与者使用SadoTech老年人监测传呼机在需要帮助时通知环境中的其他人。研究人员在建立操作(EO;需要帮助,项目丢失,或不可操作)和取消操作(AO;不需要帮助,存在的项目,和可操作的)三个先前掌握的日常生活例程的试验。结果表明,干预后,参与者在EO试验期间独立使用该设备,在行为链的AO试验期间从未使用该设备,在治疗-延伸阶段获得了类似的结果。讨论了应用实践的局限性和意义。
    在线版本包含补充材料,可在10.1007/s40616-024-00204-8获得。
    Individuals with deaf-blindness and co-occurring diagnoses, such as intellectual and developmental disabilities, may experience difficulty with independence, specifically with communication. One behavior-analytic procedure that may be useful for increasing independence and teaching communication to this population is the behavior-chain interruption strategy (BCIS). The current study examined the use of the BCIS to teach a 65-year-old deaf-blind participant with severe intellectual disability to use a SadoTech Elderly Monitoring Pager to notify others in the environment when help was needed. The researcher alternated between establishing operation (EO; help needed, items missing, or inoperable) and abolishing operation (AO; help not needed, items present, and operable) trials for three previously mastered daily living routines. The results demonstrated that following intervention, the participant used the device independently during EO trials and never used it during AO trials across behavior chains, and similar results were obtained during a treatment-extension phase. Limitations and implications for applied practice are discussed.
    UNASSIGNED: The online version contains supplementary material available at 10.1007/s40616-024-00204-8.
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  • 文章类型: Journal Article
    这项研究分析了临床数据,全外显子组测序结果,以及发育迟缓和智力障碍儿童的体外小基因功能实验。男病人,4岁,出生后3个月开始出现癫痫发作,并表现出发育迟缓。在1至2岁之间进行康复训练。没有其他重要的家庭病史。通过全面的家族外显子组基因检测,在受影响的儿童中鉴定出OPHN1基因第11外显子的半合子变异:c.1025+1G>A.家庭隔离分析证实了患者母亲中存在这种变异,以前没有报道过。根据ACMG指南,该变异被归类为可能的致病变异.作为对这种变体的回应,设计并进行了体外小基因功能实验,证实突变影响基因mRNA的正常剪接,导致在Intron11的左侧保留56bp。已证实OPHN1:c.1025+1G>A是儿童X连锁智力障碍的致病原因,临床表型包括发育迟缓和癫痫发作。
    This research analyzes the clinical data, whole-exome sequencing results, and in vitro minigene functional experiments of a child with developmental delay and intellectual disability. The male patient, aged 4, began experiencing epileptic seizures at 3 months post-birth and has shown developmental delay. Rehabilitation training was administered between the ages of one and two. There were no other significant family medical histories. Through comprehensive family exome genetic testing, a hemizygous variant in the 11th exon of the OPHN1 gene was identified in the affected child: c.1025 + 1G > A. Family segregation analysis confirmed the presence of this variant in the patient\'s mother, which had not been previously reported. According to the ACMG guidelines, this variant was classified as a likely pathogenic variant. In response to this variant, an in vitro minigene functional experiment was designed and conducted, confirming that the mutation affects the normal splicing of the gene\'s mRNA, resulting in a 56 bp retention on the left side of Intron 11. It was confirmed that OPHN1: c.1025 + 1G > A is the pathogenic cause of X-linked intellectual disabilities in the child, with clinical phenotypes including developmental delay and seizures.
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  • 文章类型: Journal Article
    背景:智力障碍(ID)是一种神经发育疾病,影响全球约2%的儿童和年轻人,以智力功能和适应性行为缺陷为特征。遗传因素有助于ID表型的发展,包括染色体的突变和结构变化.HCFC1基因的致病变异导致X连锁智力低下综合征,也被称为Siderius型X连锁智力低下。MN1基因是腭发育所必需的,这种基因的突变会导致一种叫做CEBALID综合征的遗传病。
    方法:使用外显子组测序来鉴定两个受影响家庭的致病变异,A和B,来自巴基斯坦的不同地区。这两个家庭中的受影响个人出示身份证,发育迟缓,和行为异常。使用Sanger测序进行过滤变体的验证和共分离分析。
    结果:在X连锁家族A中,在HCFC1基因(NM_005334.3)中发现了一个新的半合子错义变体(c.5705G>A;p.Ser1902Asn),而在家族B外显子组测序中,MN1基因(NM_032581.4)的外显子1中发现了杂合的无义变体(c.3680G>A;p。Trp1227Ter)。Sanger测序证实了这些变体与ID在每个家族中的分离。
    结论:对两个巴基斯坦家庭的调查揭示了HCFC1和MN1基因的致病性遗传变异,导致ID并扩展这些基因的突变谱。
    BACKGROUND: Intellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by deficits in intellectual functioning and adaptive behavior. Genetic factors contribute to the development of ID phenotypes, including mutations and structural changes in chromosomes. Pathogenic variants in the HCFC1 gene cause X-linked mental retardation syndrome, also known as Siderius type X-linked mental retardation. The MN1 gene is necessary for palate development, and mutations in this gene result in a genetic condition called CEBALID syndrome.
    METHODS: Exome sequencing was used to identify the disease-causing variants in two affected families, A and B, from various regions of Pakistan. Affected individuals in these two families presented ID, developmental delay, and behavioral abnormalities. The validation and co-segregation analysis of the filtered variant was carried out using Sanger sequencing.
    RESULTS: In an X-linked family A, a novel hemizygous missense variant (c.5705G > A; p.Ser1902Asn) in the HCFC1 gene (NM_005334.3) was identified, while in family B exome sequencing revealed a heterozygous nonsense variant (c.3680 G > A; p. Trp1227Ter) in exon-1 of the MN1 gene (NM_032581.4). Sanger sequencing confirmed the segregation of these variants with ID in each family.
    CONCLUSIONS: The investigation of two Pakistani families revealed pathogenic genetic variants in the HCFC1 and MN1 genes, which cause ID and expand the mutational spectrum of these genes.
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  • 文章类型: Journal Article
    神经发育障碍(NDD)包括广泛的病理状况,影响全球>4%的儿童,具有共同的特征,并呈现出多样化的遗传起源。它们包括临床定义的疾病,如自闭症谱系障碍(ASD),注意缺陷/多动障碍(ADHD),运动障碍,如Tics和Tourette综合征,但也有更多的异质性条件,如智力残疾(ID)和癫痫。最近还提出精神分裂症(SCZ)属于NDD。NDD的相对常见原因是拷贝数变异(CNVs),以染色体的一部分的增加或丢失为特征。在这次审查中,我们关注16p11.2染色体区域的缺失和重复,与NDD相关,ID,ASD还有癫痫和SCZ。人类携带者呈现的一些核心表型可以在动物和细胞模型中概括,这也突出了16p11.2CNVs相关表型的突出神经生理和信号改变。在这次审查中,我们还提供了16p11.2基因座内的基因的概述,包括具有部分已知或未知功能的RNA以及非编码RNA。在调节与16p11.2缺失相关的一些病理表型中,在MVP和MAPK3之间观察到特别有趣的相互作用。阐明它们在细胞内信号传导中的作用及其功能联系将是设计16p11.2CNVs相关综合征的新治疗策略的关键步骤。
    Neurodevelopmental disorders (NDDs) include a broad spectrum of pathological conditions that affect >4% of children worldwide, share common features and present a variegated genetic origin. They include clinically defined diseases, such as autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD), motor disorders such as Tics and Tourette\'s syndromes, but also much more heterogeneous conditions like intellectual disability (ID) and epilepsy. Schizophrenia (SCZ) has also recently been proposed to belong to NDDs. Relatively common causes of NDDs are copy number variations (CNVs), characterised by the gain or the loss of a portion of a chromosome. In this review, we focus on deletions and duplications at the 16p11.2 chromosomal region, associated with NDDs, ID, ASD but also epilepsy and SCZ. Some of the core phenotypes presented by human carriers could be recapitulated in animal and cellular models, which also highlighted prominent neurophysiological and signalling alterations underpinning 16p11.2 CNVs-associated phenotypes. In this review, we also provide an overview of the genes within the 16p11.2 locus, including those with partially known or unknown function as well as non-coding RNAs. A particularly interesting interplay was observed between MVP and MAPK3 in modulating some of the pathological phenotypes associated with the 16p11.2 deletion. Elucidating their role in intracellular signalling and their functional links will be a key step to devise novel therapeutic strategies for 16p11.2 CNVs-related syndromes.
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  • 文章类型: Journal Article
    本文调查了二十世纪上半叶在英国被标记为“智力缺陷”和“智力障碍”的历史演员的经历。它记录了隔离的机构和经验,取而代之的是,将就业作为一种历史性的方式,并使生活在社区中的有智力障碍的个人的经历可见。这篇文章讨论了有偿就业的重要机会,正式和非正式,对于残疾人。经济增长或衰退的时期使这些工人可见,调节劳动力市场和工资的努力也是如此。这篇文章认为,在构建智力残疾方面,而不是“智力年龄”成为主导,到20世纪中叶,“工资年龄”的白话和可协商类别在工作场所占主导地位。智力残疾人采取了不稳定的“过得去”策略,虽然他们通常经历低工资,也可以在经济边缘维持社区包容的程度。
    This article surveys the experiences of historical actors labelled \'mentally defective\' and \'mentally handicapped\' in Britain in the first half of the twentieth century. It decentres institutions and experiences of segregation, and instead foregrounds employment as a way to historicise and make visible the experiences of individuals with intellectual impairments who lived in communities. The article discusses significant opportunities for paid employment, both formal and informal, for disabled people. Periods of economic growth or recession rendered such workers visible, as did efforts to regulate labour markets and wages. The article argues that rather than \'mental age\' becoming dominant in framing intellectual disability, vernacular and negotiable categories of \'wage age\' predominated in workplaces to the mid-twentieth century. Intellectually disabled people adopted precarious strategies of \'getting by\' and while they commonly experienced low wages, could also sustain degrees of community inclusion at the margins of the economy.
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  • 文章类型: Journal Article
    法医精神病患者接受治疗,以解决他们的暴力和侵略行为,目的是促进他们安全地重新融入社会。平均而言,这些治疗是有效的,但是效果大小的大小往往很小,即使考虑到数字心理健康创新的最新进展。最近的研究表明,可穿戴技术对普通人群的身心健康有积极影响,因此也可能用于法医精神病学,患者和工作人员。可穿戴技术的几个应用和用例充满希望,特别是对于轻度智力障碍或临界智力功能的患者,因为这些设备被认为是用户友好的,并提供连续的日常反馈。
    在当前的随机交叉试验中,我们解决了之前研究的几个局限性,并比较了4种选定可穿戴设备的(连续)可用性和接受度.每个设备由工作人员和患者佩戴一周,总共四个星期。其中两个设备是通用健身追踪器,而其他两种设备使用定制的应用程序,设计用于生物提示和提供对日常压力源和事件的生理反应性的见解。
    我们的研究结果表明可用性存在显著差异,设备之间的验收和连续使用。与使用定制应用程序(Sense-IT和E4仪表板)的两个设备相比,两个健身追踪器(Fitbit和Garmin)的可用性得分最高。结果显示患者和工作人员的结果相似。
    没有一个设备获得的可用性得分可以证明推荐未来使用,考虑到国际标准;这一发现引起了人们对可穿戴技术在法医精神病学背景下的适应和采用的担忧。我们建议,可穿戴技术的游戏化和动机方面的改进可能有助于解决与可穿戴技术相关的几个挑战。
    UNASSIGNED: Forensic psychiatric patients receive treatment to address their violent and aggressive behavior with the aim of facilitating their safe reintegration into society. On average, these treatments are effective, but the magnitude of effect sizes tends to be small, even when considering more recent advancements in digital mental health innovations. Recent research indicates that wearable technology has positive effects on the physical and mental health of the general population, and may thus also be of use in forensic psychiatry, both for patients and staff members. Several applications and use cases of wearable technology hold promise, particularly for patients with mild intellectual disability or borderline intellectual functioning, as these devices are thought to be user-friendly and provide continuous daily feedback.
    UNASSIGNED: In the current randomized crossover trial, we addressed several limitations from previous research and compared the (continuous) usability and acceptance of four selected wearable devices. Each device was worn for one week by staff members and patients, amounting to a total of four weeks. Two of the devices were general purpose fitness trackers, while the other two devices used custom made applications designed for bio-cueing and for providing insights into physiological reactivity to daily stressors and events.
    UNASSIGNED: Our findings indicated significant differences in usability, acceptance and continuous use between devices. The highest usability scores were obtained for the two fitness trackers (Fitbit and Garmin) compared to the two devices employing custom made applications (Sense-IT and E4 dashboard). The results showed similar outcomes for patients and staff members.
    UNASSIGNED: None of the devices obtained usability scores that would justify recommendation for future use considering international standards; a finding that raises concerns about the adaptation and uptake of wearable technology in the context of forensic psychiatry. We suggest that improvements in gamification and motivational aspects of wearable technology might be helpful to tackle several challenges related to wearable technology.
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  • 文章类型: Journal Article
    有智力和发育障碍的儿童的家庭经常面临独特的挑战,这些挑战极大地影响了他们的生活质量。了解家庭生活质量(FQOL)的预测因素对于开发有效的支持系统和干预措施至关重要。
    目的:这项研究调查了可能影响有残疾成员的家庭对其生活质量(FQOL)的看法的预测因素。
    方法:样本由来自沙特阿拉伯利雅得地区的320名家庭成员组成。
    结果:总体结果显示,参与者对FQOL的满意度处于中等水平。进一步的结果表明,与严重程度相关的变量,残疾类型,母亲的年龄和受教育程度是FQOL的重要预测因素。
    结论:这些结果强调了考虑影响FQOL的变量的重要性,比如残疾的严重程度和类型,和母亲的相关变量,当指导支持有残疾成员的家庭时。讨论了该研究的建议和局限性。
    Families of children with intellectual and developmental disabilities often face unique challenges that significantly impact their quality of life. Understanding the predictors of family quality of life (FQOL) is crucial for developing effective support systems and interventions.
    OBJECTIVE: This study investigated the predictors that might influence the perception of families having a member with a disability regarding their quality of life (FQOL).
    METHODS: The sample consisted of 320 family members from the Riyadh region of Saudi Arabia.
    RESULTS: The overall results showed that participants\' satisfaction with FQOL was at a moderate level. Further results indicated that variables associated with severity, type of disability, and the mother\'s age and education were significant predictors of the FQOL.
    CONCLUSIONS: These results emphasize the importance of considering the variables that impact FQOL, such as the severity and type of disability, and mother\'s related variables, when directing support to families with a member with a disability. The recommendations and limitations of the study were discussed.
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  • 文章类型: Journal Article
    这项研究调查了智障青年的沙特阿拉伯家庭的家庭幸福。148个家庭成员的样本,包括父母和其他亲属,接受了关于情感幸福感的调查,家庭互动,和育儿。这项研究旨在探索这些家庭中的独特挑战和动态,提供有关青年智力障碍如何影响家庭单位的见解。该研究强调了在理解沙特背景下智力残疾对家庭生活的具体影响方面的差距。主要发现包括不同家庭成员对家庭生活质量的看法存在差异,父亲表现出不同的满意度。这项研究有助于制定具有文化敏感性的支助战略和政策,强调需要采取有针对性的干预措施,以增进沙特阿拉伯这些家庭的福祉。
    This study investigates the family well-being among Saudi Arabian families with youth who have an intellectual disability. A sample of 148 family members, including parents and other relatives, was surveyed on emotional well-being, family interactions, and parenting. This study aimed to explore the unique challenges and dynamics within these families, providing insights into how an intellectual disability in a youth affects the family unit. The research highlights a gap in understanding the specific impacts of intellectual disability on family life in the Saudi context. Key findings include variations in family quality of life perceptions among different family members, with fathers showing distinct levels of satisfaction. This study contributes to the development of culturally sensitive support strategies and policies, emphasizing the need for targeted interventions to enhance the well-being of these families in Saudi Arabia.
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  • 文章类型: Journal Article
    背景:虽然文献强调了照顾家庭成员的巨大挑战,目前尚不清楚智力残疾和具有挑战性行为的家庭照顾者的需求是什么,以及对他们有什么好处。这项研究旨在研究60名父母和兄弟姐妹在管理成年家庭成员在家中生活时具有智力障碍的挑战性行为方面的经验。
    方法:将采用半结构化访谈的定性扎根理论方法。目的抽样将用于招募与智障成年人生活在一起并在香港使用一项社区服务的家庭照顾者。将接触来自中国北方的三所智力残疾人特殊学校。
    结果:本研究旨在深入了解家庭照顾者的经历,并比较他们在家庭中处理智障成年亲属的挑战性行为时所面临的不同情况。
    结论:尽管这项研究针对的是有智力障碍的成年人,研究结果将为表现出苛刻和挑战行为并与家人生活在一起的青少年和年轻人提供参考。建议可以指导制定适当的战略,以加强对家庭照顾者的服务。
    BACKGROUND: While the literature has highlighted the immense challenges in caring for family members, it is still unclear what the needs of family carers of persons with intellectual disability and challenging behaviours are and what has worked for them. This study aims to examine 60 parents\' and siblings\' experiences in managing the challenging behaviours of their adult family member with intellectual disability whilst living at home.
    METHODS: A qualitative grounded theory approach using semi-structured interviews will be adopted. Purposive sampling will be used to recruit family carers who live with adult persons with intellectual disability and use one community service in Hong Kong. Three special schools for persons with intellectual disability from northern China will be approached.
    RESULTS: This study will aim to provide an in-depth understanding of the experiences of family carers and compare the different circumstances they face when managing the challenging behaviours of their adult relatives with intellectual disability in their family home.
    CONCLUSIONS: Although this study targets adults with intellectual disability, the findings will provide a point of reference for adolescents and younger persons who exhibit demanding and challenging behaviours and live with their families. Recommendations can guide the development of appropriate strategies to strengthen services for family carers.
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