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Published on: February 23, 2024
Environmental and genetic factors in pediatric inflammatory demyelinating diseases
Emmanuelle Waubant1, Anne-Louise Ponsonby2, Maura Pugliatti2
1From the Pediatric MS Center (E.W.), UCSF Benioff Children's Hospital; Neurology Department (E.W.), UCSF, San Francisco, CA; Murdoch Children's Research Institute (A.-L.P.), Royal Children's Hospital, University of Melbourne, Australia; Department of Biomedical and Specialty Surgical Sciences (M.P.), University of Ferrara, Italy; Neurosciences and Mental Health (H.H.), The Hospital for Sick Children, Toronto, Canada; Department of Neurology (E.M.M.), Johns Hopkins, Baltimore, MD; and MS Center ErasMS, Department of Neurology (R.Q.H.), Erasmus MC, Rotterdam, the Netherlands. Emmanuelle.waubant@ucsf.edu.
Insights
Pediatric multiple sclerosis (MS) shares genetic and environmental risk factors with adult MS, including HLA DRB1*1501, smoking, and Epstein-Barr virus. Vitamin D
Area of Science:
- Neurology
- Immunology
- Genetics
Background:
- Multiple sclerosis (MS) onset in childhood affects approximately 5% of patients.
- Both genetic and environmental factors contribute to MS susceptibility and disease course.
- Key risk factors like HLA DRB1*1501, low vitamin D, smoking, and Epstein-Barr virus (EBV) infection are implicated in adult and pediatric MS.
Purpose of the Study:
- To review genetic and environmental risk factors for pediatric MS.
- To explore the role of these factors in disease susceptibility and modification.
- To identify knowledge gaps in pediatric MS and related disorders.
Main Methods:
- Literature review of genetic and environmental risk factors in pediatric MS.
- Analysis of established risk factors in adult MS and their relevance to children.
- Examination of gene-environment interactions and epigenetic factors.
Main Results:
- HLA DRB1*1501, smoking, and EBV infection are confirmed pediatric MS risk factors.
- The role of vitamin D in pediatric MS requires further confirmation.
- Low vitamin D levels and age impact MS disease course in both children and adults.
Conclusions:
- Pediatric MS pathogenesis involves shared genetic and environmental factors with adult MS.
- Further research, particularly collaborative studies, is needed to understand pediatric MS, neuromyelitis optica spectrum disorders, and acute disseminated encephalomyelitis.
- Elucidating gene-environment interactions and epigenetic changes is crucial for understanding MS susceptibility and progression.
Abstract:
The onset of multiple sclerosis (MS) occurs in childhood in about 5% of all patients with MS. The disease in adults has a complex genetic and environmental inheritability. One of the main risk factors, also confirmed in pediatric MS, is HLA DRB1*1501 In addition to genetic factors, a large part of disease susceptibility in adults is conferred by environmental risk factors such as low vitamin D status, exposure to cigarette smoking, and remote Epstein-Barr virus (EBV) infection. In children, both exposure to cigarette smoking and prior EBV infection have been reported consistently as risk factors for MS. The role of vitamin D remains to be confirmed in this age category. Finally, although very likely critical in disease processes, few gene-environment interactions and epigenetic changes have been reported for adult and pediatric MS susceptibility. Of interest, some of the risk factors for MS have also been associated with disease course modification, such as low 25(OH) vitamin D serum levels in pediatric and adult MS. Age is also a clear disease modifier of clinical, CSF, and MRI phenotype in children with the disease. Finally, although much has yet to be unraveled regarding molecular processes at play in MS, there is a larger gap in our knowledge of genetic and environmental risk factors for pediatric neuromyelitis optica spectrum disorders and acute disseminated encephalomyelitis and only collaborative studies will answer those questions.
