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本文引用的文献

1
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.CGG 扩展的 FMR1 基因在美国人群样本中的患病率。
Am J Med Genet B Neuropsychiatr Genet. 2012 Jul;159B(5):589-97. doi: 10.1002/ajmg.b.32065. Epub 2012 May 22.
2
Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms.脆性 X 综合征患儿母亲携带 FMR1 前突变者的抑郁和焦虑症状：CRHR1 多态性调节其发病风险
Am J Med Genet B Neuropsychiatr Genet. 2012 Jul;159B(5):549-59. doi: 10.1002/ajmg.b.32061. Epub 2012 May 9.
3
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.女性脆性 X 前突变携带者中伴有和不伴有 FXTAS 的神经病理学、临床和分子病理学。
Genes Brain Behav. 2012 Jul;11(5):577-85. doi: 10.1111/j.1601-183X.2012.00779.x. Epub 2012 Apr 6.
4
Quantitative measurement of FMRP in blood platelets as a new screening test for fragile X syndrome.血小板中 FMRP 的定量测量作为脆性 X 综合征的新筛选试验。
Clin Genet. 2012 Nov;82(5):472-7. doi: 10.1111/j.1399-0004.2011.01798.x. Epub 2011 Nov 29.
5
Parents' decisions to screen newborns for FMR1 gene expansions in a pilot research project.家长在试点研究项目中决定对新生儿进行 FMR1 基因扩展筛查。
Pediatrics. 2011 Jun;127(6):e1455-63. doi: 10.1542/peds.2010-3078. Epub 2011 May 29.
6
Newborn screening for fragile x syndrome: do we care what parents think?脆性X综合征的新生儿筛查：我们在意家长的想法吗？
Pediatrics. 2011 Jun;127(6):e1593-4. doi: 10.1542/peds.2011-0677. Epub 2011 May 29.
7
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.脆性 X 1 号前突变携带者在美国进行常规人群携带者筛查中的频率：对脆性 X 综合征、脆性 X 相关震颤共济失调综合征和脆性 X 相关原发性卵巢功能不全的流行率的了解。
Genet Med. 2011 Jan;13(1):39-45. doi: 10.1097/GIM.0b013e3181fa9fad.
8
Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective.向患有脆性X综合征家庭中的女儿传达遗传风险信息：父母的观点。
J Genet Couns. 2011 Feb;20(1):58-69. doi: 10.1007/s10897-010-9326-9. Epub 2010 Sep 28.
9
Pediatricians' knowledge of and attitudes toward fragile X syndrome screening.儿科医生对脆性X综合征筛查的了解及态度。
Acad Pediatr. 2009 Mar-Apr;9(2):114-7. doi: 10.1016/j.acap.2008.11.011. Epub 2009 Feb 11.
10
Fragile X screening: attitudes of genetic health professionals.脆性X综合征筛查：遗传健康专业人员的态度
Am J Med Genet A. 2009 Feb 15;149A(4):626-32. doi: 10.1002/ajmg.a.32725.

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.

DOI:10.1352/1944-7558-188.4.284
PMID:23937370
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3744113/
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。