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唐氏综合症计划研究

要了解有关下面列出的任何研究的更多信息，请与我们的Dowlsyndrome计划研究团队联系downsyndrome.research@childrens.harvard.eduor 617-919-6435.

行为，教育和医疗干预措施

  • 根据护理标准给儿童施用的研究研究药物的药代动力学，药效学和安全性（POP-02）：In this project, we are looking to see how certain drugs, given by your child’s regular health care provider and as part of your child’s routine care, act in the bodies of children and young adults. Specifically, this study will look at children and adolescents withDown syndrome(Trisomy 21) less than 21 years of age who are currently receiving the medication Guanfacine and/or the medication Sertraline.

神经发育的大脑过程和模式

  • 桥梁（发育增长的大脑指标）：与认知神经科学实验室，这项研究正在研究大脑活动的差异如何通过使用行为评估和大脑活动测量来影响唐氏综合症儿童的学习，语言和行为（脑电).
  • 思想（个人发展的个人发展）研究：The study, which is based out of theFaja Laboratory，试图了解执行控制的早期发展（即孩子们在朝着目标努力，学习做新事物或控制其行为时的思维方式）。

同时发生的医疗状况和发展

  • Genetics of Congenital Heart Disease Study:This is a study with collaborators in theDepartment of Cardiology他们正在研究唐氏综合症患者之间的遗传差异congenital heart disease (CHD)和唐氏综合症的人没有CHD。
  • 儿童–D（先天性心脏病：对唐氏综合症的学习和发展的影响）：Child-DS是一项多中心研究，它将比较唐氏综合症的儿童的学习，行为和发育，这些儿童接受过疾病综合症患有疾病的人的手术，而唐氏综合症没有重大的心脏问题。
  • Regression in Individuals with Down Syndrome:This project uses a medical record review to:
    1. 表征唐氏综合症个体的回归
    2. 确定唐氏综合症患者回归和卡塔托尼症的潜在危险因素。

    家庭观点

    • 探索Covid-19期间压力和支持的护理人员经历：The purpose of this study is to better understand the new challenges and experiences that parents and caregivers have faced during theCOVID-19大流行。参与者完成了在线调查，还可以选择一次性面试。
    • Quality of Life/Family Functioning in Down Syndrome vs. Autism Spectrum Disorder:This study is a review of parent responses for more than 100 patients at the发展医学中心who are any age and have been diagnosed with Trisomy 21/Down syndrome,自闭症谱系障碍(ASD), or both Down syndrome and ASD.

    健身和健康

    • DS-Fit:This research pilot program teaches a home-based exercise program to adolescents and teenagers with Down syndrome over the course of weekly group exercise sessions. An optional component of the program uses standardized measurements to assess the impact of exercise on fitness levels as well as mood and attention symptoms.

    Closed studies

    • Infant Screening Project:与认知神经科学实验室合作，该计划希望通过使用发展和行为评估和大脑活动测量（EEG）更好地了解患有唐氏综合症儿童的早期语言和社会交流。
    • JASPER (Joint Attention, Symbolic Play, Engagement, and Regulation):与认知神经科学实验室, this behavioral intervention is designed to teach young children the skills of joint engagement (social interaction with others), joint attention (paying attention to the same thing at the same time as another person), and play.
    • Parent Attitudes Towards Enhancing Cognition and Clinical Trials:This study used surveys, phone interviews, and a focus group to explore parent attitudes toward.
      1. medical/scientific efforts to enhance cognition in individuals with Down syndrome
      2. 唐氏综合症个体的临床药物试验。
    • PCORI (Patient-Centered Outcomes Research Institute) Phenotype Study:合作者Division of Genetics and Genomicshave developed surveys that people with undiagnosed genetic conditions can use to document medical symptoms and physical features. These surveys were initially tested in cohorts that have known genetic conditions, like individuals with Down syndrome.
    • 罗氏临床试验：This clinical trial was a randomized, double-blind, placebo-controlled study of a medication in children with Down syndrome ages 6 to 11. The trial focused on cognition enhancement and ran from 2015-17.
    • SPARK:火花，由Simons Foundation Autism Research Initiative，其使命是通过建立美国最大的自闭症研究来加快研究并提高对自闭症的理解。您可以在线注册并使用房屋收集套件贡献唾液样本。自闭症患者将获得价值高达50美元的礼品卡。注册和信息可以在线找到at this webpage.

    Quality improvement

    The DSP has various projects in place behind the scenes to improve quality of care for the hundreds of patients and families that we interact with each year. Many of these projects focus on standardizing how we collect patient information from parents, families, and providers through new electronic surveys and intake forms. These initiatives will enable us to learn more about development, behavior, and medical conditions over time in individuals with Down syndrome and to improve our clinical care. We also have a literacy initiative underway, which has the goal of better assessing and promoting literacy across patients of all ages. Our programming for the literacy initiative has included surveys to capture reading level and interest, a virtual reading club, and a free book giveaway at clinic.
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