Excellence in Pediatrics is a non-profit
global network dedicated to advancing
pediatric healthcare.
Rue des Vignerons 18, 1110 Morges 1 (VD), Switzerland
In this comprehensive webinar, Prof. Roberto Giugliani and Dr. Julie Eisengart deliver a dual-perspective session on the importance of early diagnosis in mucopolysaccharidoses (MPS). They combine clinical genetics and neuropsychology expertise to explore how early signs can be identified, diagnostic delays reduced, and functional outcomes improved.
Prof. Giugliani begins by outlining when and how to suspect MPS, emphasizing the importance of examining family history, especially for consanguinity or undiagnosed cases. He presents the progression of MPS as typically slow and insidious—children appear normal at birth, with symptoms like visceromegaly, coarse facial features, joint stiffness, and skeletal anomalies developing over time. Using case examples, he illustrates how signs like hernias, recurrent infections, and abnormal X-ray findings (e.g., dysostosis multiplex) are early diagnostic clues.
He emphasizes the diagnostic workflow:
He notes that qualitative GAG tests often yield false results, so quantitative assays and age-adjusted references are essential. Molecular diagnosis is increasingly used early on, sometimes even preceding enzyme testing, and should always be confirmed by functional studies.
Dr. Eisengart focuses on the neurodevelopmental implications of delayed diagnosis. She explains how functional decline in MPS—particularly MPS I, II, III, and VII—can manifest subtly at first, such as with disrupted sleep, irritability, or delayed speech. She uses development trajectories to illustrate how disease impact begins early but becomes clinically apparent only later. Intervening early, ideally before cognitive regression, allows for more meaningful retention of developmental milestones.
She presents compelling sibling case comparisons, demonstrating that early enzyme replacement therapy (ERT), even without CNS-specific targeting, can lead to reduced behavioral issues, better language retention, and preserved motor function. Photographs and developmental charts of two brothers with MPS II show stark contrasts in cognitive, physical, and behavioral outcomes, directly correlating with treatment timing.
The presenters conclude by urging broader awareness among pediatricians, ENT specialists, orthopedic surgeons, radiologists, and other frontline providers. They highlight the value of newborn screening and advocate for early, multidisciplinary, and family-centered care. Even without brain-penetrating therapies, early intervention can profoundly influence the quality of life for both patients and families.