Think Rare Program – New Live Webinar · Progressive Neurodegeneration in Children: Are We Diagnosing Too Late?

Progressive neurodegenerative disorders in children are individually rare but collectively under-recognized, and the consequences of late diagnosis are often irreversible. A new Think Rare webinar examines why earlier recognition matters and what clinicians can do differently.

Context

Progressive neurodegeneration in children encompasses a broad spectrum of conditions — including lysosomal storage disorders, leukodystrophies, and other neurometabolic diseases — that share a common and often overlooked challenge: their early features frequently resemble more familiar pediatric presentations. Developmental regression, behavioral change, sleep disturbance, and emerging motor difficulties can each, in isolation, point toward common diagnoses. It is the pattern of progression over time that shifts the clinical picture, and that pattern is too often recognized late.

As part of the Think Rare program, the Excellence in Pediatrics Institute is launching a new webinar dedicated to earlier recognition of progressive neurodegeneration across the pediatric spectrum. Drawing on expert perspectives and case-based discussion, the session will examine the shared red-flag clusters that should prompt reassessment, the diagnostic pitfalls that contribute to delay, and the structured approaches to investigation and referral that can reduce the time from first signs to appropriate care.

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Upcoming Webinar • Wednesday, 17 June

Register for the upcoming Think Rare webinar

Wednesday, 17th June 2026
13:00 Central European Summer Time (CEST)

Progressive Neurodegeneration in Children: Are We Diagnosing Too Late?

This webinar addresses one of the most persistent challenges in pediatric practice: recognizing progressive neurodegeneration before irreversible functional decline has occurred. The session introduces the broader spectrum of progressive neurodegenerative disorders in children and explores why these conditions are so frequently diagnosed late. Using MLD and MPS III as case models, participants will gain a practical understanding of the shared early clinical features that can mimic common presentations, the consequences of diagnostic delay, and how to apply a structured approach to earlier recognition, investigation, and referral.

Key Learning Points from the Webinar

At the end of the webinar, participants will be able to:

Understand the Spectrum of Progressive Neurodegeneration

Recognize progressive neurodegenerative conditions in children as a collectively significant clinical burden, understand their shared early features, and distinguish them from more common static or non-progressive presentations.

Identify Red Flags and Understand Why Diagnosis Is Delayed

Recognize the early clinical red flags and symptom patterns — including regression, behavioral change, and sleep disturbance — that should prompt reassessment, and understand how common misattributions contribute to diagnostic delay.

Apply a Structured Approach to Investigation and Referral

Apply a practical Recognize–Investigate–Refer framework to escalate earlier, initiate appropriate investigations in parallel, and understand how timely diagnosis directly affects treatment access and long-term outcomes.

Watch a Previous Webinar in the Series

Newborn Screening and Sibling Testing for MLD – Family and Expert Perspectives

This webinar addresses what happens after a positive newborn screen for Metachromatic Leukodystrophy, a moment that demands both clinical precision and sensitive family communication. Featuring Dr. Erik Eklund, Dr. Andreas Öberg, and parent Ally Wallace, the session combines expert guidance on screening rationale, confirmation workflows, and Norway’s national program rollout with a first-hand family account of the diagnostic journey. The result is a practical resource for pediatric teams navigating post-screen referral, sibling testing, and early intervention pathways.

Watch the webinar →

About the Program

The EiP Think Rare Program empowers pediatricians and general practitioners to identify rare and underdiagnosed conditions early. Each Learning Zone focuses on a specific rare disease, equipping clinicians with condition-specific knowledge, early signs to watch for, and up-to-date resources, forming a practical, centralized resource for recognizing rare diseases in clinical practice.

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Explore the Learning Zones

Each Learning Zone focuses on a specific rare disease, equipping you with condition-specific knowledge, early signs to watch for, and up-to-date clinical resources. Explore all zones and share them with colleagues.

MPS

Mucopolysaccharidosis

Practical tools to help detect early signs, reduce misdiagnosis, and ensure timely referrals and intervention.

Visit Zone →

MLD

Metachromatic Leukodystrophy

Recognize early signs, often mistaken for common conditions, and take action to change the course of a child’s life.

Visit Zone →

Alpha-mannosidosis

Recognise the early signs and transform outcomes with earlier, more accurate referral and patient care.

Visit Zone →

CLN2

Neuronal Ceroid Lipofuscinosis

A new Learning Zone dedicated to CLN2 disease is coming soon. Resources and clinical tools are in development.

Coming Soon

Explore the full Think Rare Program →

The THINK RARE program is independently developed and managed by EiP with respect to content, topics, and appointed speakers. Unrestricted grants are sought to support EiP’s activities; Orchard Therapeutics has provided an unrestricted grant to partially support EiP’s work on the early diagnosis of metabolic disorders.