Progressive Neurodegeneration in Children: Are We Diagnosing Too Late?

This webinar addresses the challenge of recognizing progressive neurodegeneration in children — a significant but under-recognized clinical burden that is frequently diagnosed late. Led by Prof. Nicole Wolf, Dr. Serena Gasperini, and Prof. Samuel Gröschel, the session will focus on identifying early clinical red flags, distinguishing progressive neurodegeneration from other pediatric presentations, and applying a structured approach to investigation and referral. Using MLD and MPS III as case models, participants will gain practical insight into how these conditions present in clinical practice, and how earlier recognition can support timely decision-making and improve outcomes for patients and families.

The session will combine a clinical framework with disease-specific insights across three expert presentations. Prof. Samuel Gröschel will open with a clinical framework defining progressive neurodegeneration, distinguishing regression from other pediatric presentations, and identifying red-flag patterns across neurometabolic disorders. Prof. Nicole Wolf will then address MLD in practice — covering how MLD differs from other neurodegenerative conditions, key diagnostic anchors, and when to escalate based on clinical patterns and progression. Dr. Serena Gasperini will close with MPS III in practice, examining behavioral and cognitive presentation, common misattributions, and practical diagnostic triggers including biochemical and genetic confirmation.

The session will also examine system-level delays and where they occur in clinical pathways, practical approaches to earlier escalation and referral, collaboration between neurologists, metabolic specialists, and pediatricians, and communication considerations when raising concern with families.