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儿童多发性硬化症的病因学研究:一种评估环境暴露的工具(意大利儿科遗传与环境暴露问卷)

Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire).

作者信息

Pilotto Silvy, Gencarelli Jessica, Bova Stefania, Gerosa Leonardo, Baroncini Damiano, Olivotto Sara, Alfei Enrico, Zaffaroni Mauro, Suppiej Agnese, Cocco Eleonora, Trojano Maria, Amato Maria Pia, D'Alfonso Sandra, Martinelli-Boneschi Filippo, Waubant Emmanuelle, Ghezzi Angelo, Bergamaschi Roberto, Pugliatti Maura

机构信息

Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy.

Department of Medical Sciences - Pediatric Section, University of Ferrara, Ferrara, Italy.

出版信息

Mult Scler J Exp Transl Clin. 2021 Dec 1;7(4):20552173211059048. doi: 10.1177/20552173211059048. eCollection 2021 Oct.

Abstract

BACKGROUND

The etiology of pediatric-onset multiple sclerosis is unknown although putative genetic and environmental factors appear to be involved. Among children multiple sclerosis onset occurs closer to the susceptibility window thank in adults and the exposure to etiological environmental factors is more informative. An Italian multicentre case-control study (the PEDiatric Italian Genetic and enviRonment ExposurE, ) was designed to investigate environmental exposures in pediatric-onset multiple sclerosis and their interaction with genetics.

OBJECTIVES

To collect evidence on exposures to environmental risk factors in pediatric-onset multiple sclerosis, a questionnaire was developed for the Italian population (PEDIGREE Questionnaire) and is presented.

METHODS

PEDIGREE Questionnaire develops from an existing tool used in case-control studies on pediatric-onset multiple sclerosis in US Americans, and was translated, adapted and tested for the contents perceived relevance, acceptability, feasibility and reliability in a population of Italian pediatric subjects and their parents recruited from clinics and general population.

RESULTS

PEDIGREE Questionnaire contents were overall deemed relevant by the study population, acceptable for 100% participants and feasible for at least 98%. PEDIGREE Questionnaire degree of reliability ranged 56% to 72%.

CONCLUSION

PEDIGREE Questionnaire proves to be an efficient tool to assess environmental exposures in the Italian pediatric population. We encourage the dissemination of population-specific questionnaires and shared methodology to optimize efforts in MS etiological research.

摘要

背景

尽管推测遗传和环境因素可能参与其中,但儿童多发性硬化症的病因尚不清楚。在儿童中,多发性硬化症的发病比成人更接近易感性窗口,而且接触病因性环境因素的情况更具参考价值。一项意大利多中心病例对照研究(意大利儿童遗传与环境暴露研究,即PEDiatric Italian Genetic and enviRonment ExposurE,简称PIGEON)旨在调查儿童多发性硬化症中的环境暴露情况及其与遗传的相互作用。

目的

为收集儿童多发性硬化症环境危险因素暴露的证据,为意大利人群开发了一份问卷(PEDIGREE问卷)并予以呈现。

方法

PEDIGREE问卷源自美国用于儿童多发性硬化症病例对照研究的现有工具,并针对从诊所和普通人群中招募的意大利儿童受试者及其父母群体,就其内容的感知相关性、可接受性、可行性和可靠性进行了翻译、改编和测试。

结果

研究人群总体认为PEDIGREE问卷的内容相关,100%的参与者认为可接受,至少98%的参与者认为可行。PEDIGREE问卷的可靠性程度在56%至72%之间。

结论

PEDIGREE问卷被证明是评估意大利儿童人群环境暴露的有效工具。我们鼓励传播针对特定人群的问卷和共享方法,以优化多发性硬化症病因学研究的工作。

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