Cardiometabolic Risk Factors and Obesity in Adolescents with Down Syndrome

描述(申请人提供)：居住在美国的40多万人患有唐氏综合症，这是一种先天性疾病，由21号染色体的三个副本而不是两个副本引起。唐氏综合症患者的预期寿命为60岁，需要预防性的、以证据为基础的医疗保健，并满足唐氏综合症的独特需求。肥胖和甲状腺疾病风险的增加被归因于唐氏综合症，但这些问题与心血管和代谢(心脏代谢)风险、身体形象和生活质量的相关性及其管理尚未得到充分探讨。事实上，唐氏综合症患者长期以来一直被认为是心血管疾病的保护者。不幸的是，医学界可能被误导了一种错误的安全感，因为最近的证据表明，唐氏综合症患者患心血管疾病的风险实际上增加了。由于许多成人疾病都起源于童年，因此在童年和青春期检查风险和潜在的干预措施是预防的关键。此外，患有唐氏综合症的青少年，像其他智力残疾的人一样，可能会有身体、医学和发育方面的问题，挑战传统的治疗模式，并损害生活质量和身体形象。该项目的总体目标是更好地了解肥胖和甲状腺功能障碍及其治疗对唐氏综合症青少年心脏代谢长期风险的影响。这项研究还希望扩大对这些青少年的生活质量、身体形象和生活方式(身体活动和饮食模式)的理解。目的：1)比较唐氏综合征青少年前期和青少年与年龄、性别、种族、民族和BMI-Z评分相匹配的对照组中体重指数和肥胖(DXA测量)、心脏代谢危险因素(非高密度脂蛋白胆固醇、脂蛋白亚类颗粒、血压、胰岛素抵抗、糖耐量、炎症标志物和脂肪因子)和动脉僵硬(心血管终末器官损伤的标志物)之间的关系。2)探讨甲状腺激素替代治疗对唐氏综合征和亚临床甲状腺功能减退症患者体重指数、脂肪质量、心脏代谢危险因素和生活质量的影响。第二目的)研究肥胖、生活方式(体力活动、营养)、身体形象和DS儿童生活质量之间的关系，并探讨DS儿童保持健康体重的影响因素。这些研究努力通过提供科学证据，为心血管和代谢筛查和管理指南提供基础，从而改善唐氏综合症儿童和成人的医疗保健。

DESCRIPTION (provided by applicant): More than 400,000 people living in the US have Down syndrome, a congenital disorder arising from the presence of three, rather than two, copies of chromosome 21. With a life expectancy of 60 years, individuals with Down syndrome are in need of health care that is preventative, evidence-based, and addresses the needs unique to Down syndrome. Increased risks of obesity and thyroid disease have been ascribed to Down syndrome, but the relevance of these issues to cardiovascular and metabolic (cardiometabolic) risk, body image, and quality of life, and their management have not been fully explored. In fact, individuals with Down syndrome have long been considered protected from cardiovascular disease. Unfortunately, the medical community may have been lulled into a false sense of security as more recent evidence suggests that individuals with Down syndrome are actually at increased risk for cardiovascular disease. Because many adult diseases have origins in childhood, examining risks and potential interventions in childhood and adolescence is the key to prevention. Moreover, adolescents with Down syndrome, like others with intellectual disabilities, may have physical, medical, and developmental issues that challenge traditional treatment paradigms and compromise quality of life and body image. The overall objective of this project is to provide a better understanding of the impact of obesity and thyroid dysfunction and their treatments on long-term cardiometabolic risk in adolescents with Down syndrome. This study also hopes to broaden the understanding of quality of life, body image and lifestyle (physical activity and dietary patterns) in these adolescents. Aims: 1) To compare the relationship between body mass index and adiposity (measured by DXA), and cardiometabolic risk factors (non-HDL cholesterol, lipoprotein subclass particles, blood pressure, insulin resistance, glucose tolerance, inflammatory markers, and adipokines) and arterial stiffness (a marker of cardiovascular end organ injury) in pre-adolescents and adolescents with Down syndrome, and in age-, sex-, race-, ethnicity- and BMI-Z score- matched controls. 2) To determine the effect of thyroxine replacement on body mass index, fat mass, cardiometabolic risk factors, and quality of life (QOL) in pre-adolescents and adolescents with Down syndrome and subclinical hypothyroidism. Secondary Aim) To examine the relationship between obesity, lifestyle (physical activity, nutrition), body image, and quality of life in DS, and to explore bariers to maintaining a healthy weight in children with DS.. These studies strive to improve the health care of children and adults with Down syndrome by providing scientific evidence on which to base cardiovascular and metabolic screening and management guidelines.