The Down Syndrome Growing Up Study

项目总结 唐氏综合征(DS)是一种常见的遗传性疾病，大约每700名新生儿中就有一人患有唐氏综合症。患有以下疾病的儿童 DS在出生时较小，在长/身高、体重和头围方面的生长速度比其他类型的 孩子们。生长评估是一种重要的初级保健筛查工具，用于评估儿童的一般情况 健康，当前医疗条件的影响，并检测尚未诊断的医疗早期迹象 及时发现病症(如甲状腺功能减退、脑积水)。婴儿和身体的体重与长度之比 年龄较大的儿童和青少年的体重指数(BMI)也是营养状况的重要筛查工具 在整个生命周期内进行评估，因为在婴儿期不能茁壮成长的风险和老年肥胖症的风险。 目前美国DS儿童的生长发育图表是可用的，但已经过时了。医疗保健和医疗保健方面的进展 在过去的几十年里，患有DS的儿童的预期寿命有所提高，而且有一个很好的- 认识到有必要修订长度、身高、体重、头围、体重/长度的增长图表 和体重指数。此外，公认的DS患者预期寿命的种族差异 强调开发更准确地表示种族和性别的增长图表的重要性 各民族比之前公布的图表要好。此外，新图表应以研究质量为基础 衡量标准，其中适当反映了年龄、性别、族裔、种族和社会经济群体 为了成为DS儿童的代表。因此，还需要增量测量，特别是身高测量 这表明DS儿童的生长速度是可以表征的。这些图表对于允许医生 对患有DS的儿童的成长做出判断。 因此，这项研究的总体目标是招募一组区域队列的婴儿、儿童和青少年 通过(1)一个大型的DS儿童专科护理中心，(2)一个广泛的地区性初级儿科 关爱网络，(3)并通过社区支持团体、社会服务网络和广告。 大约580名婴儿和儿童将被招募并进行纵向评估(婴儿每季度，双 每年为学步儿童和儿童和青少年)，以实现足够的代表性 年龄和性别分组。评估将包括对体型、身体比例的增长进行人体测量。 和身体成分，以便制定使用BMI进行肥胖症筛查的指南 衡量肥胖程度。简短的问卷来描述社会人口学特征、健康史、 喂养问题和体力活动将包括在内，以确定样本的特征。将创建增长图表 使用最先进的方法构建具有平滑百分位数的归一化增长图表 在临床护理中使用的分布。将探索与DS儿童生长障碍相关的因素。

PROJECT SUMMARY Down syndrome (DS) is a common genetic disorder occurring in approximately 1 in 700 births. Children with DS are smaller at birth and grow at a slower rate in length/height, weight and head circumference, than other children. Growth assessment is an important primary care screening tool to assess a child's general state of health, the impact of current medical conditions and to detect early signs of as yet undiagnosed medical conditions (e.g., hypothyroidism, hydrocephalus) in a timely manner. Weight-for-length in infants and body mass index (BMI) in older children and adolescents are also important screening tools for nutritional status assessment across the lifespan because of the risk of failure to thrive in infancy and obesity at older ages. Current growth charts for U.S. children with DS are available but outdated. Advances in health care and improved life expectancy of children with DS have occurred in the past few decades, and there is a well- recognized need for revised charts for growth in length, height, weight, head circumference, weight-for-length and body mass index. In addition, the recognized racial difference in life expectancy in people with DS underscores the importance of developing growth charts that have a more accurate representation of race and ethnic groups than previously published charts. Moreover, new charts should be based on research quality measurements, with an appropriate representation of age, sex, ethnic, racial and socioeconomic groups in order to be representative of children with DS. Incremental measures, especially for height, are also needed so that growth velocity of children with DS can be characterized. These charts are crucial in allowing physicians to make judgments about the growth of children with DS in their care. Accordingly, the overall goal of this study is to recruit a regional cohort of infants, children and adolescents with DS through (1) a large specialty care center for children with DS, (2) an extensive regional primary pediatric care network, (3) and through community support groups, social services networks and advertising. Approximately 580 infants and children will be recruited and evaluated longitudinally (quarterly for infants, bi- annually for toddlers, and annually for children and adolescents) in order to achieve sufficient representation of age and sex groups. The evaluation will include anthropometric assessment of growth in size, body proportions and body composition in order to develop guidelines for the use of BMI for obesity screening based on measures of adiposity. Brief questionnaires to characterize sociodemographic characteristics, health history, feeding issues and physical activity will be included to characterize the sample. Growth charts will be created using the state-of-the-art approach for constructing normalized growth charts with smoothed percentile distributions for use in clinical care. Factors associated with growth failure in children with DS will be explored.