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临床实践——优化唐氏综合征患儿护理的最新见解。

Clinical practice - latest insights in optimizing the care of children with Down syndrome.

机构信息

Department of Pediatrics, Groene Hart Ziekenhuis, P.O. Box 1098, 2800 BB, Gouda, The Netherlands.

Department of Pediatrics, Alrijne, Leiderdorp, The Netherlands.

出版信息

Eur J Pediatr. 2023 May;182(5):2027-2039. doi: 10.1007/s00431-023-04890-9. Epub 2023 Mar 10.

DOI:10.1007/s00431-023-04890-9
PMID:36897403
Abstract

An essential part of the care of children with Down syndrome is secondary screening for comorbidity. It is well known that comorbidity frequently occurs in these children. A new update of the Dutch Down syndrome medical guideline was developed to create a sound evidence base for several of these conditions. We present the latest insights and recommendations from this Dutch medical guideline which are based on the most relevant literature currently available and developed with rigorous methodology. The main focus of this revision of the guideline was on obstructive sleep apnea and other airway problems and hematologic disorders, such as transient abnormal myelopoiesis, leukemia, and thyroid disorders. Conclusion: This is a short summary of the latest insights and recommendations from the updated Dutch medical guideline for children with Down syndrome.

摘要

唐氏综合征患儿护理的一个重要内容是并发症的二级筛查。众所周知,这些儿童经常并发多种疾病。为了为其中一些疾病提供坚实的循证医学基础,我们制定了一份荷兰唐氏综合征医学指南的最新更新版。我们呈现了这份荷兰医学指南的最新观点和建议,这些建议是基于目前可获得的最相关文献,并采用严谨的方法制定的。该指南修订的主要重点是阻塞性睡眠呼吸暂停和其他气道问题以及血液系统疾病,如短暂性髓系异常、白血病和甲状腺疾病。结论:这是对唐氏综合征儿童最新更新版荷兰医学指南的最新观点和建议的简要总结。

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Clinical practice - latest insights in optimizing the care of children with Down syndrome.临床实践——优化唐氏综合征患儿护理的最新见解。
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Some infants with Down syndrome spontaneously outgrow their obstructive sleep apnea.一些唐氏综合征患儿会自然摆脱阻塞性睡眠呼吸暂停。
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Sensitive GATA1 mutation screening reliably identifies neonates with Down syndrome at risk for myeloid leukemia.敏感的GATA1突变筛查能够可靠地识别出患髓系白血病风险较高的唐氏综合征新生儿。
Leukemia. 2021 Aug;35(8):2403-2406. doi: 10.1038/s41375-021-01128-1. Epub 2021 Jan 22.
2
Estimation of the number of people with Down syndrome in Europe.估算欧洲唐氏综合征患者人数。
Eur J Hum Genet. 2021 Mar;29(3):402-410. doi: 10.1038/s41431-020-00748-y. Epub 2020 Oct 31.
3
Obstructive sleep apnea in people with intellectual disabilities: adherence to and effect of CPAP.
智障人士阻塞性睡眠呼吸暂停:CPAP 的依从性和效果。
Sleep Breath. 2021 Sep;25(3):1257-1265. doi: 10.1007/s11325-020-02221-y. Epub 2020 Oct 21.
4
Basic Motor Skills of Children With Down Syndrome: Creating a Motor Growth Curve.唐氏综合征儿童的基本运动技能:创建运动生长曲线。
Pediatr Phys Ther. 2020 Oct;32(4):375-380. doi: 10.1097/PEP.0000000000000743.
5
Obstructive Sleep Apnoea Contributes to Executive Function Impairment in Young Children with Down Syndrome.阻塞性睡眠呼吸暂停导致唐氏综合征幼儿执行功能受损。
Behav Sleep Med. 2020 Sep-Oct;18(5):611-621. doi: 10.1080/15402002.2019.1641501. Epub 2019 Jul 16.
6
Are home sleep studies useful in diagnosing obstructive sleep apnea in children with down syndrome?在家进行睡眠研究对诊断唐氏综合征儿童阻塞性睡眠呼吸暂停是否有用?
Pediatr Pulmonol. 2019 Oct;54(10):1541-1546. doi: 10.1002/ppul.24440. Epub 2019 Jul 9.
7
Expert consensus on palivizumab use for respiratory syncytial virus in developed countries.发达国家关于帕利珠单抗治疗呼吸道合胞病毒的专家共识。
Paediatr Respir Rev. 2020 Feb;33:35-44. doi: 10.1016/j.prrv.2018.12.001. Epub 2018 Dec 18.
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Adaptive Behavior and Intelligence in Adolescents With Down Syndrome: An Exploratory Investigation.唐氏综合征青少年的适应行为和智力:一项探索性研究。
Intellect Dev Disabil. 2019 Apr;57(2):79-94. doi: 10.1352/1934-9556-57.2.79.
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Developmental dysplasia of the hip in children with Down syndrome: comparison of clinical and radiological examinations in a local cohort.唐氏综合征患儿髋关节发育不良:局部队列中临床与影像学检查的比较。
Eur J Pediatr. 2019 Apr;178(4):559-564. doi: 10.1007/s00431-019-03322-x. Epub 2019 Feb 1.
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Parents' perceptions of functional abilities in people with Down syndrome.家长对唐氏综合征患者功能能力的认知。
Am J Med Genet A. 2019 Feb;179(2):161-176. doi: 10.1002/ajmg.a.61004. Epub 2018 Dec 24.