Pediatric Onset Multiple Sclerosis (POMS): Exploring phenotypic characterization and pubertal influences in modulating the disease activity from the Danish MS Registry (DMSR)

Silvy Pilotto; Luigi Pontieri; Helle Hvilsted Nielsen; Peter Vestergaard Rasmussen; Kristina Bacher Svendsen; Rikke Marie Jensen; Morten Blinkenberg; Anja Thormann; Eleonora Cocco; Maura Pugliatti; Melinda Magyari

doi:10.1177/13524585251335476

Pediatric Onset Multiple Sclerosis (POMS): Exploring phenotypic characterization and pubertal influences in modulating the disease activity from the Danish MS Registry (DMSR)

Silvy Pilotto^*, Luigi Pontieri, Helle Hvilsted Nielsen, Peter Vestergaard Rasmussen, Kristina Bacher Svendsen, Rikke Marie Jensen, Morten Blinkenberg, Anja Thormann, Eleonora Cocco, Maura Pugliatti, Melinda Magyari

^*Corresponding author for this work

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

Abstract

Background: Pediatric-onset multiple sclerosis (POMS) constitutes ~5% of multiple sclerosis (MS) cases and presents distinct clinical and diagnostic challenges. Puberty, characterized by significant hormonal changes, may influence disease presentation, relapse rates, and long-term outcomes. Objectives: To investigate the impact of pubertal stages on clinical characteristics, relapse activity and disability progression in POMS using data from the Danish MS Registry (DMSR). Methods: A nationwide cohort of 185 POMS patients were included and categorized by pre- (<11 years), peri- (11–14 years), and post-pubertal (>14 years) onset. Demographics, presenting symptoms, magnetic resonance imaging (MRI) findings, relapse rates, and Expanded Disability Status Scale (EDSS) scores were compared. Patients transitioning across the three pubertal stages (n = 54) were analyzed longitudinally for relapse rate. Results: Pre-pubertal onset was associated with severe symptoms (cerebellar involvement, p = 0.042), greater lesion burden, higher 10-year disability (EDSS median = 3.75, p = 0.039), and lower relapse rates (annualized relapse rate (ARR) = 0.200). Male sex reduced relapse rates (p = 0.013). Female-to-male ratio increased from 1:1 pre-puberty to ~2:1 after puberty. Patients with pre-pubertal onset transitioning to peri- or post-puberty showed increasing relapse rates, peaking during peri-puberty (ARR = 0.302). Conclusions: Puberty significantly modulates disease course in POMS, emphasizing the need for early, sex-specific interventions, proactive monitoring, and further exploration of hormonal influences on disease progression and treatment response.

Original language	English
Journal	Multiple Sclerosis Journal
Number of pages	9
ISSN	1352-4585
DOIs	https://doi.org/10.1177/13524585251335476
Publication status	E-pub / Early view - 2025

Keywords

disease activity
Multiple sclerosis
pediatric
puberty
relapsing/remitting

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10.1177/13524585251335476

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Pilotto, S., Pontieri, L., Nielsen, H. H., Rasmussen, P. V., Svendsen, K. B., Marie Jensen, R., Blinkenberg, M., Thormann, A., Cocco, E., Pugliatti, M., & Magyari, M. (2025). Pediatric Onset Multiple Sclerosis (POMS): Exploring phenotypic characterization and pubertal influences in modulating the disease activity from the Danish MS Registry (DMSR). Multiple Sclerosis Journal. Advance online publication. https://doi.org/10.1177/13524585251335476

@article{97bdb2b94de14db7bcaee1e8aec10abe,

title = "Pediatric Onset Multiple Sclerosis (POMS): Exploring phenotypic characterization and pubertal influences in modulating the disease activity from the Danish MS Registry (DMSR)",

abstract = "Background: Pediatric-onset multiple sclerosis (POMS) constitutes ~5% of multiple sclerosis (MS) cases and presents distinct clinical and diagnostic challenges. Puberty, characterized by significant hormonal changes, may influence disease presentation, relapse rates, and long-term outcomes. Objectives: To investigate the impact of pubertal stages on clinical characteristics, relapse activity and disability progression in POMS using data from the Danish MS Registry (DMSR). Methods: A nationwide cohort of 185 POMS patients were included and categorized by pre- (<11 years), peri- (11–14 years), and post-pubertal (>14 years) onset. Demographics, presenting symptoms, magnetic resonance imaging (MRI) findings, relapse rates, and Expanded Disability Status Scale (EDSS) scores were compared. Patients transitioning across the three pubertal stages (n = 54) were analyzed longitudinally for relapse rate. Results: Pre-pubertal onset was associated with severe symptoms (cerebellar involvement, p = 0.042), greater lesion burden, higher 10-year disability (EDSS median = 3.75, p = 0.039), and lower relapse rates (annualized relapse rate (ARR) = 0.200). Male sex reduced relapse rates (p = 0.013). Female-to-male ratio increased from 1:1 pre-puberty to ~2:1 after puberty. Patients with pre-pubertal onset transitioning to peri- or post-puberty showed increasing relapse rates, peaking during peri-puberty (ARR = 0.302). Conclusions: Puberty significantly modulates disease course in POMS, emphasizing the need for early, sex-specific interventions, proactive monitoring, and further exploration of hormonal influences on disease progression and treatment response.",

keywords = "disease activity, Multiple sclerosis, pediatric, puberty, relapsing/remitting",

author = "Silvy Pilotto and Luigi Pontieri and Nielsen, {Helle Hvilsted} and Rasmussen, {Peter Vestergaard} and Svendsen, {Kristina Bacher} and {Marie Jensen}, Rikke and Morten Blinkenberg and Anja Thormann and Eleonora Cocco and Maura Pugliatti and Melinda Magyari",

note = "Publisher Copyright: {\textcopyright} The Author(s), 2025.",

year = "2025",

doi = "10.1177/13524585251335476",

language = "English",

journal = "Multiple Sclerosis Journal",

issn = "1352-4585",

publisher = "SAGE Publications Ltd",

}

Pilotto, S, Pontieri, L, Nielsen, HH, Rasmussen, PV, Svendsen, KB, Marie Jensen, R, Blinkenberg, M, Thormann, A, Cocco, E, Pugliatti, M & Magyari, M 2025, 'Pediatric Onset Multiple Sclerosis (POMS): Exploring phenotypic characterization and pubertal influences in modulating the disease activity from the Danish MS Registry (DMSR)', Multiple Sclerosis Journal. https://doi.org/10.1177/13524585251335476

Pediatric Onset Multiple Sclerosis (POMS): Exploring phenotypic characterization and pubertal influences in modulating the disease activity from the Danish MS Registry (DMSR). / Pilotto, Silvy; Pontieri, Luigi; Nielsen, Helle Hvilsted et al.
In: Multiple Sclerosis Journal, 2025.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Pediatric Onset Multiple Sclerosis (POMS)

T2 - Exploring phenotypic characterization and pubertal influences in modulating the disease activity from the Danish MS Registry (DMSR)

AU - Pilotto, Silvy

AU - Pontieri, Luigi

AU - Nielsen, Helle Hvilsted

AU - Rasmussen, Peter Vestergaard

AU - Svendsen, Kristina Bacher

AU - Marie Jensen, Rikke

AU - Blinkenberg, Morten

AU - Thormann, Anja

AU - Cocco, Eleonora

AU - Pugliatti, Maura

AU - Magyari, Melinda

PY - 2025

Y1 - 2025

N2 - Background: Pediatric-onset multiple sclerosis (POMS) constitutes ~5% of multiple sclerosis (MS) cases and presents distinct clinical and diagnostic challenges. Puberty, characterized by significant hormonal changes, may influence disease presentation, relapse rates, and long-term outcomes. Objectives: To investigate the impact of pubertal stages on clinical characteristics, relapse activity and disability progression in POMS using data from the Danish MS Registry (DMSR). Methods: A nationwide cohort of 185 POMS patients were included and categorized by pre- (<11 years), peri- (11–14 years), and post-pubertal (>14 years) onset. Demographics, presenting symptoms, magnetic resonance imaging (MRI) findings, relapse rates, and Expanded Disability Status Scale (EDSS) scores were compared. Patients transitioning across the three pubertal stages (n = 54) were analyzed longitudinally for relapse rate. Results: Pre-pubertal onset was associated with severe symptoms (cerebellar involvement, p = 0.042), greater lesion burden, higher 10-year disability (EDSS median = 3.75, p = 0.039), and lower relapse rates (annualized relapse rate (ARR) = 0.200). Male sex reduced relapse rates (p = 0.013). Female-to-male ratio increased from 1:1 pre-puberty to ~2:1 after puberty. Patients with pre-pubertal onset transitioning to peri- or post-puberty showed increasing relapse rates, peaking during peri-puberty (ARR = 0.302). Conclusions: Puberty significantly modulates disease course in POMS, emphasizing the need for early, sex-specific interventions, proactive monitoring, and further exploration of hormonal influences on disease progression and treatment response.

AB - Background: Pediatric-onset multiple sclerosis (POMS) constitutes ~5% of multiple sclerosis (MS) cases and presents distinct clinical and diagnostic challenges. Puberty, characterized by significant hormonal changes, may influence disease presentation, relapse rates, and long-term outcomes. Objectives: To investigate the impact of pubertal stages on clinical characteristics, relapse activity and disability progression in POMS using data from the Danish MS Registry (DMSR). Methods: A nationwide cohort of 185 POMS patients were included and categorized by pre- (<11 years), peri- (11–14 years), and post-pubertal (>14 years) onset. Demographics, presenting symptoms, magnetic resonance imaging (MRI) findings, relapse rates, and Expanded Disability Status Scale (EDSS) scores were compared. Patients transitioning across the three pubertal stages (n = 54) were analyzed longitudinally for relapse rate. Results: Pre-pubertal onset was associated with severe symptoms (cerebellar involvement, p = 0.042), greater lesion burden, higher 10-year disability (EDSS median = 3.75, p = 0.039), and lower relapse rates (annualized relapse rate (ARR) = 0.200). Male sex reduced relapse rates (p = 0.013). Female-to-male ratio increased from 1:1 pre-puberty to ~2:1 after puberty. Patients with pre-pubertal onset transitioning to peri- or post-puberty showed increasing relapse rates, peaking during peri-puberty (ARR = 0.302). Conclusions: Puberty significantly modulates disease course in POMS, emphasizing the need for early, sex-specific interventions, proactive monitoring, and further exploration of hormonal influences on disease progression and treatment response.

KW - disease activity

KW - Multiple sclerosis

KW - pediatric

KW - puberty

KW - relapsing/remitting

UR - http://www.scopus.com/inward/record.url?scp=105004047245&partnerID=8YFLogxK

U2 - 10.1177/13524585251335476

DO - 10.1177/13524585251335476

M3 - Journal article

C2 - 40292788

AN - SCOPUS:105004047245

SN - 1352-4585

JO - Multiple Sclerosis Journal

JF - Multiple Sclerosis Journal

ER -

Pediatric Onset Multiple Sclerosis (POMS): Exploring phenotypic characterization and pubertal influences in modulating the disease activity from the Danish MS Registry (DMSR)

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Keywords

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