Thompson Talia, Bothwell Samantha, Janusz Jennifer, Wilson Rebecca, Howell Susan, Davis Shanlee, Swenson Karli, Martin Sydney, Kowal Karen, Ikomi Chijioke, Despradel Maria, Ross Judith, Tartaglia Nicole
eXtraOrdinarY Kids Clinic & Research Program, Children's Hospital Colorado, Aurora, CO.
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO.
medRxiv. 2024 Aug 19:2024.08.16.24312065. doi: 10.1101/2024.08.16.24312065.
Sex chromosome trisomy (SCT) is a common chromosomal abnormality associated with increased risks for early developmental delays and neurodevelopmental disorders later in childhood. Our objective was to quantify the spectrum of early developmental milestones in SCT. We hypothesized later milestone achievement in SCT than the general population.
Data were collected as part of the eXtraordinarY Babies Study, a prospective natural history of developmental and health trajectories in a prenatally identified sample of infants with SCT. Parent reported, clinician-validated, early motor and language milestones were collected at 2, 6, 12, 18, 24, and 36-months. Age distributions of milestone achievement were compared with normative data.
In all SCT conditions, compared with normative data, there was increased variability and a later median age of skill development across multiple gross motor and expressive language milestones. Results also show a significant amount of overlap with the general pediatric population, suggesting that for many children with prenatally identified SCT, early milestones present within, or close to, the expected timeline.
As increasing numbers of infants with prenatal SCT diagnoses present at pediatric practices, we provide an evidence-based schedule of milestone achievement in SCT as a tool for pediatricians and families. Detailed data on SCT milestones can support clinical interpretation of milestone achievement. Increased variability and later median age of milestone acquisition in SCT compared to norms support consideration of all infants with SCT as high risk.
性染色体三体（SCT）是一种常见的染色体异常，与早期发育迟缓风险增加以及儿童后期神经发育障碍相关。我们的目的是量化SCT中早期发育里程碑的范围。我们假设SCT中里程碑达成时间比一般人群晚。
数据收集是非凡婴儿研究的一部分，该研究是对产前确定的患有SCT的婴儿样本的发育和健康轨迹进行的前瞻性自然史研究。在2、6、12、18、24和36个月时收集家长报告、经临床医生验证的早期运动和语言里程碑。将里程碑达成的年龄分布与标准数据进行比较。
在所有SCT情况下，与标准数据相比，多个大运动和表达性语言里程碑的技能发展变异性增加且中位年龄较晚。结果还显示与普通儿科人群有大量重叠，这表明对于许多产前诊断为SCT的儿童，早期里程碑出现在预期时间线内或接近预期时间线。
随着越来越多产前诊断为SCT的婴儿出现在儿科诊所，我们提供基于证据的SCT里程碑达成时间表，作为儿科医生和家庭的工具。关于SCT里程碑的详细数据可以支持对里程碑达成情况的临床解读。与标准相比，SCT中里程碑获得的变异性增加和中位年龄较晚，支持将所有患有SCT的婴儿视为高危人群。
