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一种脆性X综合征的家长反应筛查量表:国际样本的开发与测试

A Parent-Response Screening Inventory for Fragile X Syndrome: Development & Testing with an International Sample.

作者信息

Johnson Vanessa A, Powell-Young Yolanda M, Brossman Bradley, Kim Elecia, Sherman Stephanie L

机构信息

Florida AtLantic University's Christine E. Lynn College of Nursing.

Dillard University School of Nursing and Center for Minority Health and Health Disparities in New Orleans; she also holds appointment as Adjunct faculty at the University of Iowa College of Nursing.

出版信息

J Theory Constr Test. 2013 Fall-Winter;17(2):38-44.

PMID:40970271
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12443307/
Abstract

Fragile X syndrome, caused by a mutation in the FMR1 gene, is the most commonly inherited form of intellectual disability in children. Because the physical and early behavioral signs of Fragile X are often subtle, parents are often in the best position to advance early recognition and treatment. The Biopsychosocial Screening Inventory for Fragile X (BIPSSI-FX) was designed as an early detection parent-response inventory. A mixed-methods exploratory study of 886 caregivers, recruited from 22 countries across 5 continents, of children aged 1 through 18 years was used to refine a reliable and valid instrument.

摘要

脆性X综合征由FMR1基因突变引起,是儿童中最常见的遗传性智力障碍形式。由于脆性X的身体和早期行为迹象通常很细微,父母往往最有条件促进早期识别和治疗。脆性X生物心理社会筛查量表(BIPSSI-FX)被设计为一种早期检测的家长反应量表。一项对来自五大洲22个国家的886名1至18岁儿童的照顾者进行的混合方法探索性研究,用于完善一种可靠且有效的工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fcb/12443307/9f36c1f28cd1/nihms-2108036-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fcb/12443307/f8a4d012701f/nihms-2108036-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fcb/12443307/9f36c1f28cd1/nihms-2108036-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fcb/12443307/f8a4d012701f/nihms-2108036-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fcb/12443307/9f36c1f28cd1/nihms-2108036-f0002.jpg

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本文引用的文献

1
Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers.前瞻性比较家族病史与个人基因组筛查在常见癌症风险评估中的应用。
Eur J Hum Genet. 2012 May;20(5):547-51. doi: 10.1038/ejhg.2011.224. Epub 2012 Jan 4.
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Screening for developmental delay.发育迟缓筛查。
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Visual attention and autistic behavior in infants with fragile X syndrome.脆性 X 综合征婴儿的视觉注意力与自闭症行为。
J Autism Dev Disord. 2012 Jun;42(6):937-46. doi: 10.1007/s10803-011-1316-8.
4
CGG repeat in the FMR1 gene: size matters.脆性 X 智力低下基因 1 中 CGG 重复:大小很重要。
Clin Genet. 2011 Sep;80(3):214-25. doi: 10.1111/j.1399-0004.2011.01723.x. Epub 2011 Jun 30.
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Targeted treatments for fragile X syndrome.脆性 X 综合征的靶向治疗。
J Neurodev Disord. 2011 Sep;3(3):193-210. doi: 10.1007/s11689-011-9074-7. Epub 2011 Feb 19.
6
[Advances in treatment of fragile X syndrome].[脆性X综合征的治疗进展]
Neurol Neurochir Pol. 2010 Sep-Oct;44(5):504-10. doi: 10.1016/s0028-3843(14)60141-9.
7
Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.在一个来自普通人群的 24449 对母婴前瞻性样本中,对 FMR1 等位基因进行筛查和不稳定性分析。
Clin Genet. 2009 Dec;76(6):511-23. doi: 10.1111/j.1399-0004.2009.01237.x. Epub 2009 Oct 23.
8
No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey.脆性X综合征的诊断年龄无变化:一项全国性家长调查的结果
Pediatrics. 2009 Aug;124(2):527-33. doi: 10.1542/peds.2008-2992. Epub 2009 Jul 5.
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.
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Advances in the treatment of fragile X syndrome.脆性X综合征治疗进展
Pediatrics. 2009 Jan;123(1):378-90. doi: 10.1542/peds.2008-0317.