Developmental disabilities

发育障碍
  • 文章类型: Journal Article
    先兆子痫对胎儿发育有直接影响,并可能影响产后健康,胎儿生长受限(FGR)通常与先兆子痫同时发生。先兆子痫诊断有和没有FGR后早产的儿童的发育没有得到很好的表征。
    在一组非常早产的婴儿中检查先兆子痫和FGR与发育和/或行为结局的关联。
    在这项队列研究中,2014年4月至2016年6月,在9个美国大学附属新生儿重症监护病房(NICU)纳入了前瞻性新生儿神经行为和极早产儿结局研究的婴儿.符合条件的婴儿在妊娠30周前出生。排除婴儿的任何主要先天性异常和年龄小于18岁的母亲或影响提供知情同意能力的认知障碍。从2023年11月至2024年1月进行数据分析。
    极早产儿的先兆子痫和FGR。
    Bayley-III认知,电机,语言得分低于85(-1SD)表示发育迟缓。儿童行为清单/学龄前1.5-5T分数大于或等于64的内化,外部化,或全部问题表明临床重要性。
    在704名婴儿中,529(平均[SD]胎龄,27.0[1.9]周;287名男性[54.3%])在24个月的随访中进行了研究。共有94名婴儿母亲患有先兆子痫(23.2%),46名婴儿(8.7%)有FGR。在调整后的模型中,先兆子痫与贝利-III(认知,B=3.43[95%CI,-0.19至6.66];语言,B=3.92[95%CI,0.44至7.39];运动,B=1.86[95%CI,-1.74至5.47])或儿童行为清单/学龄前1.5-5(内化,B=-0.08[95%CI,-2.58至2.73];外部化,B=0.69[95%CI,-1.76至3.15];总计,B=0.21[95%CI,-2.48至2.91])结果。FGR与显著较低的Bayley-III评分相关(认知,B=-8.61[95%CI,-13.33至-3.89];语言,B=-8.29[95%CI,-12.95至-3.63];马达,B=-7.60[95%CI,-12.40至-2.66]),不管先兆子痫的状态。
    在这项早产儿队列研究中,先兆子痫与发育和/或行为结局无关,但是FGR的婴儿可能容易出现发育迟缓。这些发现表明了未来的研究领域,可以分别和一起了解先兆子痫和FGR在早产儿早期儿童发育中的作用。
    UNASSIGNED: Preeclampsia has direct influences on a developing fetus and may impact postnatal health, and fetal growth restriction (FGR) is often seen co-occurring with preeclampsia. The development of children born very preterm after preeclampsia diagnosis with and without FGR is not well characterized.
    UNASSIGNED: To examine the associations of preeclampsia and FGR with developmental and/or behavioral outcomes in a cohort of very preterm infants.
    UNASSIGNED: In this cohort study, infants in the prospective Neonatal Neurobehavior and Outcomes in Very Preterm Infants study were enrolled between April 2014 and June 2016 from 9 US university-affiliated neonatal intensive care units (NICUs). Eligible infants were born before 30 weeks\' gestation. Infants were excluded for any major congenital anomalies and for maternal age younger than 18 years or cognitive impairment impacting the ability to provide informed consent. Data analysis was performed from November 2023 to January 2024.
    UNASSIGNED: Maternal preeclampsia and FGR in very preterm infants.
    UNASSIGNED: The Bayley-III cognition, motor, and language scores less than 85 (-1 SD) indicated developmental delay. Child Behavior Checklist/Preschool 1.5-5 T-scores greater than or equal to 64 for internalizing, externalizing, or total problems indicated clinical importance.
    UNASSIGNED: Of 704 infants enrolled, 529 (mean [SD] gestational age, 27.0 [1.9] weeks; 287 male [54.3%]) were studied at 24-month follow-up. A total of 94 infants\' mothers had preeclampsia (23.2%), and 46 infants (8.7%) had FGR. In adjusted models, preeclampsia was not associated with Bayley-III (cognitive, B = 3.43 [95% CI, -0.19 to 6.66]; language, B = 3.92 [95% CI, 0.44 to 7.39]; motor, B = 1.86 [95% CI, -1.74 to 5.47]) or Child Behavior Checklist/Preschool 1.5-5 (internalizing, B = -0.08 [95% CI, -2.58 to 2.73]; externalizing, B = 0.69 [95% CI, -1.76 to 3.15]; total, B = 0.21 [95% CI, -2.48 to 2.91]) outcomes. FGR was associated with significantly lower Bayley-III scores (cognitive, B = -8.61 [95% CI, -13.33 to -3.89]; language, B = -8.29 [95% CI, -12.95 to -3.63]; motor, B = -7.60 [95% CI, -12.40 to -2.66]), regardless of preeclampsia status.
    UNASSIGNED: In this cohort study of preterm infants, preeclampsia was not associated with developmental and/or behavioral outcomes, but infants with FGR may be prone to developmental delays. These findings suggest future areas of research for understanding the roles of preeclampsia and FGR separately and together in early child development for preterm infants.
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  • 文章类型: Journal Article
    背景:为有智力和发育障碍的青少年量身定制性教育是至关重要的,但未被满足,需要,因为这一人群尤其面临性虐待和受害的风险。然而,没有基于证据的干预措施来具体满足这一需求.本文提出了一个干预框架的发展,以解决性教育的公平性,并支持智力和发育障碍的青少年理解和提供性同意,性教育和性健康的基础方面。
    方法:性健康公平项目团队使用基于社区的参与式研究方法,为患有智力和发育障碍的青少年开发了四模块性同意干预措施。我们利用了多样化的,中西部郊区学区的跨学科团队,并使用后向设计来创建目标和评估,这些目标和评估源于特殊教育教师的定性数据。
    结果:由此产生的性同意干预,问我第一个选择,由四个模块组成,涵盖的主题包括性同意的定义;决策策略和实践;传达同意和拒绝,确定同意和不同意的情况;以及围绕同意的法律问题。每个模块分为五个部分用于内容交付:(1)介绍,(2)讲座,(3)补充活动,(4)评估,(5)结论。我们详细说明了干预的独特方面,强调我们使用通用设计学习原则来支持教师教学和学生学习的领域。
    结论:我们创建性同意干预措施的努力直接解决了性教育公平问题。我们对我们的设计过程和决策提供评论,以及对希望在类似情况下为智力和发育障碍学生开发性健康干预措施的未来群体的建议。下一步包括进一步测试和确认性同意干预措施,以建立智力和发育障碍青少年性教育的证据基础。
    BACKGROUND: Tailored sexuality education for adolescents with intellectual and developmental disabilities is a crucial, yet unmet, need as this population is particularly at risk for sexual abuse and victimisation. However, there are no evidence-based interventions to specifically address this need. This paper presents the development of an intervention framework to address equity in sexuality education and support adolescents with intellectual and developmental disabilities to understand and provide sexual consent, a foundational aspect of sexuality education and sexual health.
    METHODS: The Sexual Health Equity Project team used a Community-Based Participatory Research approach to develop a four-module sexual consent intervention for adolescents with intellectual and developmental disabilities. We leveraged a diverse, interdisciplinary team in a suburban Midwestern school district, and used Backward Design to create objectives and assessments which were rooted in findings from qualitative data by special education teachers.
    RESULTS: The resulting sexual consent intervention, Ask Me First-Choices, is comprised of four modules covering topics including definition of sexual consent; decision-making strategies and practice; communicating consent and refusal, identifying situations of consent and non-consent; and legal issues surrounding consent. Each module is divided into five components for content delivery: (1) introduction, (2) lecture, (3) supplemental activity, (4) assessment, and (5) conclusion. We detail the intervention\'s unique aspects, emphasising areas where we used Universal Design for Learning principles to support teachers\' instruction and students\' learning.
    CONCLUSIONS: Our efforts to create a sexual consent intervention directly address sexuality education equity issues. We offer commentary on our design process and decisions, as well as recommendations for future groups who want to develop sexual health interventions in similar contexts for students with intellectual and developmental disabilities. Next steps include further testing and validation of the sexual consent intervention to build the evidence-base of sexuality education for adolescents with intellectual and developmental disabilities.
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  • 文章类型: Journal Article
    ABA研究大量关于增加或减少一小部分行为的文章。这些文章很好地符合聚焦ABA治疗的框架,其中治疗的目标仅集中在少数行为上。然而,许多行为实践者花费大部分时间开发ABA综合治疗,其中大量行为在多个发育领域发生系统性变化。很少有资源可以帮助设计和实现这样的编程。本文从教学设计领域提出了一种用于开发综合编程的模型。应用ADDIE模型-分析,设计,发展,实施,评估-文章确定了要遵循的一致过程,需要采取的关键行动,以及为自闭症患者开发综合编程时使用的有用资源。
    ABA research abounds with articles on increasing or decreasing a small set of behaviors. These articles fit nicely within the framework of Focused ABA Treatment in which the goal of treatment centers on only a few behaviors. However, many behavioral practitioners spend most of their time developing Comprehensive ABA Treatment in which a large number of behaviors are systematically changed across multiple developmental domains. Few resources are available to help in designing and implementing such programming. This article presents a model from the field of instructional design for the development of comprehensive programming. Applying the ADDIE model-Analyze, Design, Develop, Implement, Evaluate-the article identifies a consistent process to follow, critical actions to take, and helpful resources to use when developing comprehensive programming for individuals with autism.
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  • 文章类型: Journal Article
    与意外头部损伤相比,虐待性头部损伤(AHT)与高死亡率和较差的预后有关。AHT的短期和长期发育结果尚未得到很好的确定。结果测量的变异性,小样本量,难以测量特定领域的发展技能,共存的合并症,遗传和环境因素以及高流失率都给在这一领域提供数据带来了挑战。本文的目的是回顾有关AHT发展结果的科学文献,突出影响结果的因素,可用的评估工具,以及短期和长期的发展成果,建议跟进,社会成本,和未来的研究机会。作者在OVIDMedline和PubMed搜索了2013年至2023年之间发表的文章,使用术语“滥用”,“颅脑外伤”和“发展”。本次审查包括55条记录。数据显示,AHT造成的伤害会导致从正常发育到死亡的一系列结果。有100多种结果评估工具限制了比较研究的能力。超过一半的患者在出院后留下残疾。粗大运动和认知/学术是研究的两个最常见的领域。外科和神经重症监护管理的进步影响了AHT的结果。建议长期密切随访,以最大限度地提高每个孩子的发展潜力,无论出院时是否有残疾。我们建议未来的研究应侧重于采用一致的诊断和评估方法,并探索可能影响恢复的社会环境因素。
    Abusive head trauma (AHT) is associated with high mortality and poorer outcomes compared to accidental head injuries. The short and long-term developmental outcomes for AHT are not well identified. Variability in outcome measures, small sample sizes, difficulty in measuring domain-specific developmental skills, co-existence of comorbidities, genetic and environmental factors and high attrition rates all contribute to the challenges on providing data in this area. The objective of this article is to review the scientific literature on the developmental outcomes of AHT, highlighting factors that affect outcomes, the available assessment tools, and short and long-term developmental outcomes, recommended follow up, societal costs, and future opportunities for research. Authors searched OVID Medline and PubMed for articles published between 2013 and 2023 using the terms \"abuse\", \"craniocerebral trauma\" and \"development\". Fifty-five records were included for this review. The data shows that injuries sustained from AHT result in a spectrum of outcomes ranging from normal development to death. There are more than 100 outcome assessment tools limiting the ability to compare studies. More than half of patients are left with disabilities post discharge. Gross motor and cognition/academics are the 2 most common domains studied. Advancement in surgical and neurocritical care management has influenced AHT outcomes. Close long-term follow up is recommended to maximize each child\'s developmental potential, irrespective of the presence of disability at discharge. We suggest that future research should focus on adopting a consistent diagnostic and assessment approach and explore the social environmental factors that can affect recovery.
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  • 文章类型: Journal Article
    发育延迟(DD)在美洲印第安人和阿拉斯加原住民(AI/AN;土著)幼儿中非常普遍,并导致大量AI/AN儿童最终需要特殊教育服务。与美国其他儿童相比,AI/AN儿童接受特殊教育的可能性是其他儿童的2.89倍。然而,在AI/AN婴儿和幼儿中,发育障碍更容易被诊断和治疗。DD,这可以在幼儿时期就被识别出来,会对发展轨迹产生负面影响,学校准备,和长期健康。通过适当的发育筛查,可以及早发现DD的迹象,并通过包括有效的父母培训在内的高质量早期干预措施进行补救。在早期干预计划中经常使用许多基于证据的语言促进干预措施。然而,在纳瓦霍族农村地区的社区,那里的服务和资源有限,有早期DD症状的婴幼儿经常被漏诊,得不到应有的文化反应性支持和循证干预.
    基于社区的+语言是医学(+LiM)研究小组与部落家庭游客合作,社区成员,以及在2021年和2022年使用协作虚拟工作组方法的Diné语言学家/长者提出了LiM试点研究的目标,并讨论了增强对在部落社区中经历DD的幼儿的语言干预的策略。本文将详细介绍社区参与的各个阶段,干预措施的增强和对LiM干预措施进行现场测试的准备,以解决纳瓦霍民族北部机构幼儿的DD发生率升高的问题。
    该合作工作组的两个主要成果包括:(1)团队发起的语言营养重新定义,以符合土著价值观,该价值观以文化连通性和母语使用为中心;(2)由照顾者促进的课程,名为“语言是医学”,其中包括有关语言营养的照顾者课程。语言促进,共享书籍阅读,假装玩耍,并将母语融入家庭例程中。利用这两个工作组的结果来开发一项干预前/干预后的试点研究,以测试生活在纳瓦霍民族的照顾者-幼儿二元组合的LiM干预措施的有效性。
    通过部落家庭访问提供量身定制的儿童干预措施是具有成本效益和创新的方法,可以帮助从文化响应的父母指导和指导中受益的基于预订的家庭。LiM团队采用了精确的部落家庭访问方法,以增强对DD儿童的早期干预方法。我们的增强过程以土著社区为基础的参与性研究为基础,该研究以文化和语言为中心。
    UNASSIGNED: Developmental Delay (DD) is highly common in American Indian and Alaska Native (AI/AN; Indigenous) toddlers and leads to high numbers of AI/AN children who eventually need special education services. AI/AN children are 2.89 times more likely to receive special education compared to other children in the U.S., yet developmental disorders are more frequently under diagnosed and untreated in AI/AN infants and toddlers. DD, which can be identified as early as toddlerhood, can lead to negative impacts on developmental trajectories, school readiness, and long-term health. Signs of DD can be identified early with proper developmental screening and remediated with high quality early intervention that includes effective parent training. There are many evidence-based language facilitation interventions often used in Early Intervention programs. However, in communities in rural parts of the Navajo Nation where there are limited services and resources, infants and toddlers with early signs of DD are often missed and do not get the culturally responsive support and evidence-based intervention they deserve.
    UNASSIGNED: The community-based +Language is Medicine (+LiM) study team partnered with tribal home visitors, community members, and a Diné linguist/elder using a collaborative virtual workgroup approach in 2021 and 2022 to present the +LiM pilot study aims and to discuss strategies for enhancing a language intervention for toddlers experiencing DD in their tribal community. This paper will detail the stages of community engagement, intervention enhancement and preparation for field testing of the +LiM intervention to address elevated rates of DD in toddlers in the Northern Agency of the Navajo Nation.
    UNASSIGNED: Two major outcomes from this collaborative workgroup included: (1) a team-initiated redefining of language nutrition to align with Indigenous values that center cultural connectedness and native language use and (2) a five-lesson caregiver-facilitated curriculum titled +Language is Medicine which includes caregiver lessons on language nutrition, language facilitation, shared book reading, pretend play, and incorporation of native language into home routines. These two workgroup outcomes were leveraged to develop a pilot pre-/post-intervention study to test the effectiveness of the +LiM intervention with caregiver-toddler dyads living on the Navajo Nation.
    UNASSIGNED: Delivering tailored child interventions through tribal home visiting are cost-effective and innovative methods for reaching reservation-based families who benefit from culturally responsive parent coaching and instruction. The +LiM team has applied a precision tribal home visiting approach to enhance methods of early intervention for children with DD. Our enhancement process was grounded in Indigenous community-based participatory research that centered culture and language.
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  • 文章类型: Journal Article
    幼儿期是最佳和包容性终身学习的基础,健康和幸福。残疾幼儿面临儿童早期发育次优(ECD)的重大风险,需要有针对性的支持,以确保公平获得终身学习机会,特别是在低收入和中等收入国家。虽然可持续发展目标,2015-2030年(可持续发展目标)强调为5岁以下残疾儿童提供包容性教育。自可持续发展目标发布以来,没有实现这一目标的全球战略。本文根据对世界不同地区的国家ECD计划的审查以及自2015年以来发布的相关全球ECD报告,探讨了针对残疾儿童的全球ECD框架。现有证据表明,任何针对残疾儿童的幼儿发展战略都应包括双轨方法,强有力的立法支持,早期干预指南,家庭参与,指定的协调机构,性能指标,劳动力招聘和培训,以及明确的筹资机制和监测系统。这种方法加强了父母为子女选择适当支持途径的权利和自由。我们得出的结论是,如果没有一个以残疾为重点的全球幼儿发展战略,在专门的全球领导下纳入这些关键特征,可持续发展目标对世界残疾儿童的愿景和承诺不太可能实现。
    Early childhood is foundational for optimal and inclusive lifelong learning, health and well-being. Young children with disabilities face substantial risks of sub-optimal early childhood development (ECD), requiring targeted support to ensure equitable access to lifelong learning opportunities, especially in low- and middle-income countries. Although the Sustainable Development Goals, 2015-2030 (SDGs) emphasise inclusive education for children under 5 years with disabilities, there is no global strategy for achieving this goal since the launch of the SDGs. This paper explores a global ECD framework for children with disabilities based on a review of national ECD programmes from different world regions and relevant global ECD reports published since 2015. Available evidence suggests that any ECD strategy for young children with disabilities should consists of a twin-track approach, strong legislative support, guidelines for early intervention, family involvement, designated coordinating agencies, performance indicators, workforce recruitment and training, as well as explicit funding mechanisms and monitoring systems. This approach reinforces parental rights and liberty to choose appropriate support pathway for their children. We conclude that without a global disability-focussed ECD strategy that incorporates these key features under a dedicated global leadership, the SDGs vision and commitment for the world\'s children with disabilities are unlikely to be realised.
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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:患有智力和发育障碍(IDD)的人面临无法满足的医疗保健需求的高风险,并面临公平护理的障碍,然而,很少有卫生专业学生接受足够的培训来满足这些需求。
    目标:计划并实施了与宾夕法尼亚州特殊奥林匹克运动会(SOPA)运动员和工作人员的互动小组讨论,以便卫生专业的学生/受训者获得IDD知识,健康障碍,SOPA资源,志愿者的机会。
    方法:小组成员包括两名SOPA运动员及其导师;有关个人医疗保健经验的问题征求了回应(2019年秋季)。与会者完成了一项混合方法的事件后调查,以获取事件满意度,反思,以及对了解更多有关IDD患者的兴趣。
    结果:有60人参加,43人(72%)完成了事件后评估。与会者报告满意度高(88%),对未来培训的渴望(100%),和学习交流的兴趣(88%),提供护理(88%),并解决IDD健康障碍(91%)。
    结论:协作社区小组可以有效地让医疗保健学生参与有关护理IDD患者的讨论。
    BACKGROUND: People with intellectual and developmental disabilities (IDD) are at high risk for unmet health care needs and face barriers to equitable care, yet few health professions students receive adequate training to meet these needs.
    OBJECTIVE: An interactive panel discussion with Special Olympics Pennsylvania (SOPA) athletes and staff was planned and implemented so that health professions students/trainees would gain knowledge of IDD, health barriers, SOPA resources, and volunteer opportunities.
    METHODS: Panelists included two SOPA athletes and their mentors; questions solicited responses about personal health care experiences (Fall 2019). Attendees completed a mixed-methods post-event survey capturing event satisfaction, reflections, and interest in learning more about patients with IDD.
    RESULTS: Sixty individuals attended, and 43 (72%) completed post-event evaluation. Attendees reported high satisfaction (88%), desire for future trainings (100%), and interest in learning about communicating (88%), providing care (88%), and addressing IDD health barriers (91%).
    CONCLUSIONS: Collaborative community panels could be effective in engaging health care students in discussion about caring for patients with IDD.
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  • 文章类型: Journal Article
    目的:探索以全球发育迟缓和癫痫为特征的儿童的遗传基础。
    方法:选择2023年2月19日在广州市妇女儿童医学中心柳州医院就诊的儿童作为研究对象。收集患儿的临床资料。这个孩子接受了整个外显子组测序,候选变异体通过Sanger测序和生物信息学分析进行验证。
    结果:孩子,一个8个月大的女孩,表现为全球发育迟缓,癫痫,和高乳酸血症.颅骨MRI显示不同的骨髓增生性脑白质营养不良。脑电图显示背景活动缓慢。基因检测显示,她携带了SLC25A12基因的纯合变体,即c.115T>G(p.Phe39Val),她的父母都是杂合携带者。根据美国医学遗传学和基因组学学院的指南,预测该变体具有不确定的意义(PM2_支持+PM3_支持+PP3_中度+PP4_中度)。I-Mutantv3.0软件预测该变体可能会影响蛋白质产物的稳定性。
    结论:纯合c.115T>G(p。Phe39Val)SLC25A12基因的变异可能是该儿童疾病的发病机理。
    OBJECTIVE: To explore the genetic basis for a child featuring global developmental delay and epilepsy.
    METHODS: A child who had presented at Guangzhou Women and Children\'s Medical Center Liuzhou Hospital on February 19, 2023 was selected as the study subject. Clinical data of the child was collected. The child was subjected to whole exome sequencing, and candidate variant was validated by Sanger sequencing and bioinformatic analysis.
    RESULTS: The child, an 8-month-old girl, had manifested with global developmental delay, epilepsy, and hyperlactacidemia. Cranial MRI revealed diverse hypomyelinating leukodystrophies. Electroencephalogram showed slow background activities. Genetic testing revealed that she has harbored a homozygous variant of the SLC25A12 gene, namely c.115T>G (p.Phe39Val), for which both of her parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be of uncertain significance (PM2_Supporting+PM3_Supporting+PP3_Moderate+PP4_Moderate). I-Mutant v3.0 software predicted that the variant may affect the stability of protein product.
    CONCLUSIONS: The homozygous c.115T>G (p.Phe39Val) variant of the SLC25A12 gene probably underlay the pathogenesis of the disease in this child.
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  • 文章类型: Journal Article
    目的:探讨1例智力发育障碍(IDD)合并癫痫患儿的临床特征和遗传基础。
    方法:选取广东医科大学附属医院儿童医学中心2021年2月收治的儿童作为研究对象。收集患儿的临床资料。收集儿童及其父母的外周血样本并进行全外显子组测序(WES)。通过Sanger测序验证候选变体。
    结果:患者,一个3个月27天的女婴,在新生儿期出现了症状,其中包括严重的发育迟缓,呼吸困难和停顿,增加了四肢的肌肉张力,喂养困难,和癫痫发作。脑MRI显示双侧小脑发育不全,视频脑电图显示,主要来自右顶叶的尖锐波略有增加,枕骨,和后颞区。WES透露,她有一个误解c.3196G>A(p。Glu1066Lys)CLTC基因的变体,通过Sanger测序证实是从头的。根据美国医学遗传学和基因组学学院(ACMG)的指南,该变异体被分类为可能致病(PS2+PM2_支持+PP3)。
    结论:c.3196G>A(p。Glu1066Lys)CLTC基因的错义变异可能是该儿童发病机理的基础。上述发现促进了她的诊断和治疗。
    OBJECTIVE: To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy.
    METHODS: A child who was admitted to the Children\'s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.
    RESULTS: The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c.3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3).
    CONCLUSIONS: The c.3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.
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