Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 43
- 试验地点
- 2
- 主要终点
- Registry of infants with rare genetic disorders
研究概览
简要总结
The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low birth weight infants) to infants with genetic disorders. A novel clinical model for infants with rare genetic disorders has been created as a joint initiative between the Division of Newborn Medicine's NICU Growth and Developmental Support Programs (NICU GraDS) program and the Division of Genetics at Boston Children's Hospital (BCH). This study plans to enroll patients with genetic syndromes seen in this clinic into a prospective, longitudinal study in order to characterize their developmental profiles and needs.
详细描述
The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low birth weight infants) to infants with genetic disorders. A novel clinical model for infants with rare genetic disorders has been created as a joint initiative between the Division of Newborn Medicine's NICU Growth and Developmental Support Programs (NICU GraDS) program and the Division of Genetics at Boston Children's Hospital (BCH). This study plans to enroll patients with genetic syndromes seen in this clinic into a prospective, longitudinal study in order to characterize their developmental profiles and needs. Related factors such as quality of life and parental stress will also be assessed which will complement the evaluation of the role of a "developmental home" for these high risk infants. It is also hypothesized that gaps in care - mismatches between services received and services indicated based upon the developmental evaluation - will be identified. The results of this study will be used to inform future research efforts utilizing targeted approaches to improve developmental outcomes.
For infants with rare genetic disorders, the aims are as follows:
Aim 1: Characterize physical and psychosocial development using standardized longitudinal assessments.
Aim 2: Identify developmental service needs, prescription, and utilization.
Aim 3: Assess parental stress and health-related quality of life.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 4 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Eligible patients are infants under 4 years of age with genetic disorders undergoing developmental surveillance in the NICU GraDS program.
排除标准
- •Children 4 years of age or older will be excluded.
结局指标
主要结局
Registry of infants with rare genetic disorders
时间窗: Up to 18 years
Study subjects will be followed in the NICU GraDS program until approximately 3 years of age, though there will be prospective review of medical records until a maximum age of 18 years.
次要结局
未报告次要终点
研究者
Monica Wojcik
Instructor in Pediatrics
Boston Children's Hospital