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

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

Research output: Contribution to journalArticlepeer-review


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, PEDIGREE study) 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.

Original languageEnglish
JournalMultiple Sclerosis Journal - Experimental, Translational and Clinical
Issue number4
Publication statusPublished - Oct 2021


  • demyelinating diseases
  • environmental exposure
  • multiple sclerosis
  • pediatric onset
  • questionnaires
  • risk factors

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience


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