发育行为儿科学者对脆性 X 综合征筛查的态度。
Developmental and behavioral pediatricians' attitudes toward screening for fragile X.
机构信息
University of Chicago, Chicago, IL 60637, USA.
出版信息
Am J Intellect Dev Disabil. 2013 Jul;118(4):284-93. doi: 10.1352/1944-7558-188.4.284.
Abstract
Developmental and behavioral pediatricians (DBP) diagnose and care for children with fragile X syndrome. Their attitudes toward FMR1 newborn screening (NBS) and FMR1 carrier testing in childhood could highlight potential pitfalls with FMR1 NBS. We conducted a cross-sectional survey with an adjusted response rate of 61%. Among DBP, 74% supported universal FMR1 NBS, preferring to identify both full mutations and premutations. DBP also support FMR1 testing of asymptomatic siblings. Although DBP support testing for premutations at various points in the lifespan, DBP are not familiar with the array of fragile X-associated disorders (FXAD). Targeted educational interventions are needed to ensure that all health care providers have the knowledge and competence to consent and to counsel families on FXAD.
摘要
发育行为儿科学专家（DBP）诊断和照顾患有脆性 X 综合征的儿童。他们对脆性 X 染色体 1 号基因（FMR1）新生儿筛查（NBS）和儿童期 FMR1 携带者检测的态度可能突出了 FMR1 NBS 的潜在问题。我们进行了一项横断面调查，调整后的响应率为 61%。在 DBP 中，74%的人支持普遍进行 FMR1 NBS，他们更希望发现完全突变和前突变。DBP 还支持对无症状兄弟姐妹进行 FMR1 检测。尽管 DBP 支持在生命的各个阶段进行前突变检测，但他们对脆性 X 相关疾病（FXAD）的种类并不熟悉。需要有针对性的教育干预措施，以确保所有医疗保健提供者都具备知情同意和咨询 FXAD 家庭的知识和能力。
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