Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies.
Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies.
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性染色体非整倍体婴幼儿早期干预服务现状调查。
DOI：
10.1002/ajmg.c.31785
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Tartaglia,Nicole
中科院分区：
文献类型：
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作者：
Thompson,Talia;Howell,Susan;Davis,Shanlee;Wilson,Rebecca;Janusz,Jennifer;Boada,Richard;Pyle,Laura;Tartaglia,Nicole
性染色体非整倍体（SCA）是儿童中最常见的非整倍体，其集体患病率为1/500活产。先前的研究已经证明SCA与早期表达性语言和粗大运动延迟、学习障碍、ADHD、自闭症谱系障碍、焦虑和执行功能问题的风险增加有关。尽管SCA在幼儿中的诊断历来不足，但无创产前检测的最新进展导致全国范围内确诊的婴儿队列不断增加。因此，幼儿支助系统必须为大量涌入的儿童做好准备，这些儿童有可能出现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幼儿早期干预服务的理解，并描述家长的观点和优先事项。描述性统计、卡方检验和控制父母教育的逻辑回归模型显示，大多数受访者报告接受公共幼儿干预服务，其中语言治疗是最常见的服务。有显着差异的早期儿童干预服务的诊断时间（产前与产后），性染色体的数量（三体与四/五体），和地理位置。父母描述干预措施是可取的和有效的，但也很难获得由于SCA表型的问题，缺乏供应商的知识，以及导航干预系统的挑战。结果支持需要加强供应商培训SCA，政策变化的早期儿童干预资格标准SCA的条件，医疗和儿童早期环境之间的合作。
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.