Suppr超能文献

远程医疗在胎儿酒精谱系障碍儿童体格检查中的应用。

Use of Telemedicine for the Physical Examination of Children With Fetal Alcohol Spectrum Disorders.

机构信息

Division of Dysmorphology and Teratology, Department of Pediatrics, University of California San Diego (UCSD), La Jolla, CA, USA.

Division of Genetics, Rady Children's Hospital San Diego, San Diego, CA, USA.

出版信息

Alcohol Clin Exp Res. 2021 Feb;45(2):409-417. doi: 10.1111/acer.14533. Epub 2021 Feb 8.

Abstract

BACKGROUND

The fetal alcohol spectrum disorders (FASD) are among the most prevalent causes of neurodevelopmental disorders. The diagnosis is based on assessment of prenatal alcohol exposure, specific physical features identified with a dysmorphology examination, and neurobehavioral assessment. Prompt diagnosis of affected children is necessary to provide early intervention services in a timely manner; however, the availability of diagnostic expertise is limited. We propose telemedicine (TM) as a valid and reliable mode by which the physical phenotype of FASD can be accurately assessed.

METHODS

We compared face-to-face (F2F) physical examinations of the 3 key facial features and the resulting physical phenotype of the fetal alcohol syndrome (FAS) and partial FAS (pFAS), as well as 12 additional physical features seen more frequently in children with FAS than in the general population in 61 individuals with 2 different TM methods. These included a Transportable Examination Station system using a precision camera and a laptop and a Zoom secure connection system (ZOOM), using a smart phone and a tablet. We measured the percentages of agreement and the Cohen's K coefficient for each comparison.

RESULTS

Agreements for most physical features and for the physical phenotype of FAS and pFAS were in the "almost perfect" range with some exceptions in the "substantial" range. Imprecision in measurement and subjectivity underlie lower agreement for some features, both F2F and using TM. We identified the optimal conditions for the F2F examinations in order to assure reliability using TM.

CONCLUSIONS

TM is a valid and reliable method for the examination of the physical features of FAS that may contribute to greater access to an early diagnosis of FASD in children prenatally exposed to alcohol and/or with characteristic neurobehavioral deficits.

摘要

背景

胎儿酒精谱系障碍(FASD)是最常见的神经发育障碍之一。该诊断基于对产前酒精暴露的评估、通过畸形学检查确定的特定身体特征以及神经行为评估。及时诊断受影响的儿童是提供早期干预服务的必要条件;然而,诊断专业知识的可用性有限。我们提出远程医疗(TM)是一种有效的可靠模式,可以准确评估 FASD 的身体表型。

方法

我们比较了 61 名个体中 2 种不同 TM 方法的面对面(F2F)检查和由此产生的胎儿酒精综合征(FAS)和部分 FAS(pFAS)的 3 个关键面部特征及其身体表型,以及在 FAS 儿童中比在普通人群中更常见的 12 个额外身体特征。这些特征包括使用精密相机和笔记本电脑的可运输检查站系统,以及使用智能手机和平板电脑的 Zoom 安全连接系统(ZOOM)。我们测量了每种比较的一致性百分比和 Cohen's K 系数。

结果

大多数身体特征和 FAS 和 pFAS 的身体表型的一致性都在“几乎完美”范围内,但在“大量”范围内存在一些例外。由于测量的不精确和主观性,一些特征的一致性较低,无论是 F2F 还是使用 TM。我们确定了 F2F 检查的最佳条件,以确保使用 TM 进行可靠的检查。

结论

TM 是一种有效的可靠方法,可用于检查 FAS 的身体特征,这可能有助于更多地对产前暴露于酒精和/或具有特征性神经行为缺陷的儿童进行 FASD 的早期诊断。

相似文献

1
Use of Telemedicine for the Physical Examination of Children With Fetal Alcohol Spectrum Disorders.
Alcohol Clin Exp Res. 2021 Feb;45(2):409-417. doi: 10.1111/acer.14533. Epub 2021 Feb 8.
2
Secondary physical features in children with FASD.
Eur J Med Genet. 2024 Feb;67:104890. doi: 10.1016/j.ejmg.2023.104890. Epub 2023 Nov 30.
3
Evolution of the Physical Phenotype of Fetal Alcohol Spectrum Disorders from Childhood through Adolescence.
Alcohol Clin Exp Res. 2021 Feb;45(2):395-408. doi: 10.1111/acer.14534. Epub 2021 Feb 9.
4
A Comparison Among 5 Methods for the Clinical Diagnosis of Fetal Alcohol Spectrum Disorders.
Alcohol Clin Exp Res. 2016 May;40(5):1000-9. doi: 10.1111/acer.13032. Epub 2016 Mar 29.
5
Fetal alcohol spectrum disorders in Finland: clinical delineation of 77 older children and adolescents.
Am J Med Genet A. 2006 Jan 15;140(2):137-43. doi: 10.1002/ajmg.a.31037.
6
Challenges of diagnosing fetal alcohol spectrum disorders in foster and adopted children.
Alcohol. 2018 Mar;67:37-43. doi: 10.1016/j.alcohol.2017.05.004. Epub 2017 Aug 24.
9
A review of the physical features of the fetal alcohol spectrum disorders.
Eur J Med Genet. 2017 Jan;60(1):55-64. doi: 10.1016/j.ejmg.2016.10.004. Epub 2016 Oct 10.
10
Magnetic resonance imaging outcomes from a comprehensive magnetic resonance study of children with fetal alcohol spectrum disorders.
Alcohol Clin Exp Res. 2009 Oct;33(10):1671-89. doi: 10.1111/j.1530-0277.2009.01004.x. Epub 2009 Jul 1.

引用本文的文献

1
2
Screening for fetal alcohol spectrum disorder in infants and young children.
Adv Drug Alcohol Res. 2023 Jul 14;3:11125. doi: 10.3389/adar.2023.11125. eCollection 2023.
3
A systematic review: facial, dental and orthodontic findings and orofacial diagnostics in patients with FASD.
Front Pediatr. 2023 Jun 8;11:1169570. doi: 10.3389/fped.2023.1169570. eCollection 2023.

本文引用的文献

2
Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities.
JAMA. 2018 Feb 6;319(5):474-482. doi: 10.1001/jama.2017.21896.
3
Global Prevalence of Fetal Alcohol Spectrum Disorder Among Children and Youth: A Systematic Review and Meta-analysis.
JAMA Pediatr. 2017 Oct 1;171(10):948-956. doi: 10.1001/jamapediatrics.2017.1919.
4
A Decision Tree to Identify Children Affected by Prenatal Alcohol Exposure.
J Pediatr. 2016 Oct;177:121-127.e1. doi: 10.1016/j.jpeds.2016.06.047. Epub 2016 Jul 29.
5
Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders.
Pediatrics. 2016 Aug;138(2). doi: 10.1542/peds.2015-4256. Epub 2016 Jul 27.
6
Fetal Alcohol Spectrum Disorders.
Pediatrics. 2015 Nov;136(5):e1395-406. doi: 10.1542/peds.2015-3113. Epub 2015 Oct 19.
7
Telemedicine: Pediatric Applications.
Pediatrics. 2015 Jul;136(1):e293-308. doi: 10.1542/peds.2015-1517.
8
Telemedicine uptake among Genetics Professionals in Europe: room for expansion.
Eur J Hum Genet. 2016 Feb;24(2):157-63. doi: 10.1038/ejhg.2015.83. Epub 2015 Apr 22.
9
Misdiagnosis and missed diagnoses in foster and adopted children with prenatal alcohol exposure.
Pediatrics. 2015 Feb;135(2):264-70. doi: 10.1542/peds.2014-2171. Epub 2015 Jan 12.
10
Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit.
J Perinatol. 2014 Mar;34(3):234-40. doi: 10.1038/jp.2013.159. Epub 2014 Jan 9.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验