Sex chromosome aneuploidies (SCAs) are the most commonly occurring aneuploidies in children with a collective prevalence rate of 1 in 500 live births. Prior research has documented SCAs are associated with an increased risk for early expressive language and gross motor delays, learning disorders, ADHD, autism spectrum disorder, anxiety, and executive function problems. Although SCAs have been historically underdiagnosed in young children, recent advances in noninvasive prenatal testing have resulted in an increasing nationwide cohort of infants with confirmed diagnoses. Consequently, early childhood support systems must prepare for an influx of children with known risks for associated developmental delays and potential school problems. This national survey aimed to update our understanding of current early childhood intervention services for young children with SCA in the United States and to describe parent perspectives and priorities. Descriptive statistics, chi‐square tests, and logistic regression models controlling for parent education revealed a majority of respondents reported receiving public early childhood intervention services with speech therapy as the most common service. There were significant differences in early childhood intervention services by timing of diagnosis (prenatal vs. postnatal), number of sex chromosomes (trisomy vs. tetra/pentasomy), and geographic location. Parents described interventions as desirable and effective yet also difficult to obtain due to issues with the SCA phenotype, lack of provider knowledge, and challenges navigating the intervention systems. Results support the need for enhanced provider training in SCAs, policy change for early childhood intervention qualification criteria for SCA conditions, and collaboration between medical and early childhood settings.

中文翻译：

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目前对具有性染色体非整倍性的婴幼儿的早期干预服务的调查。

性染色体非整倍性（SCA）是儿童中最常见的非整倍性，其集体患病率为每500例活产中有1例。先前的研究表明，SCA与早期表达语言和严重运动延迟，学习障碍，多动症，自闭症谱系障碍，焦虑症和执行功能问题的风险增加有关。尽管从历史上来说，SCA在幼儿中的诊断不足，但无创产前检测的最新进展已导致全国确诊的婴儿人数增加。因此，早期儿童支持系统必须为涌入已知风险的儿童做好准备，以防止相关的发育迟缓和潜在的学校问题。这项全国性调查旨在更新我们对美国SCA幼儿目前的早期干预服务的了解，并描述父母的观点和优先事项。描述性统计数据，卡方检验和用于家长教育控制的逻辑回归模型显示，大多数受访者报告说他们接受了公共早期儿童干预服务，其中语音治疗是最常见的服务。根据诊断时机（产前与产后），性染色体数目（三体性与四/五倍体）和地理位置，幼儿干预服务存在显着差异。家长认为干预措施既理想又有效，但由于SCA表型问题，提供者知识不足，挑战干预系统。结果支持需要加强对SCA的提供者培训，针对SCA条件的幼儿干预资格标准的政策变更以及医学和幼儿环境之间的协作。