Prof. Maria Gizewska (Pomeranian Medical University, Poland)
LANGUAGE AND DURATION
Language: English
Duration: 43 minutes, followed by questions from the audience
PRESENTER
Presenter: Prof. Maria Gizewska, Vice Head of the Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Poland.
LEARNING OBJECTIVES
- How to undertake a comprehensive medical history of a child suspected of inborn errors of metabolism?
- How to identify the early signs of inborn errors of metabolism in neonates and infants?
- How to avoid common misdiagnosis and confusion with other conditions?
COURSE DESCRIPTION
Misdiagnosis of Mucopolysaccharidosis (MPS) results in late diagnosis and the late start of treatment, which has significant consequences on long-term outcomes. This gap usually results in confusing symptoms with other conditions, most notably trying to address symptoms directly and delaying actual diagnosis and treatment or referring the patient to the wrong pediatric specialties, causing further delays in the condition’s management chain.
The Spot the Early Signs program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients.
AUDIENCE
This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Endocrinologists, Pediatric Rheumatologists, and other physicians and healthcare professionals interested in Metabolic Diseases.