Gloria Gallo
Comprehensive central nervous system (CNS) functional evaluation in Italian children affected by Pompe disease: a longitudinal multicentre study
Autori
- GLORIA GALLO (DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, UNIVERSITY OF TURIN, ITALY – SPECIALIZZANDA IN NEUROPSICHIATRIA INFANTILE)
- TIZIANA MONGINI (DEPARTMENT OF NEUROSCIENCES RLM, NEUROMUSCULAR UNIT, UNIVERSITY OF TURIN – NEUROLOGIA)
- FEDERICA RICCI (DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, UNIVERSITY OF TURIN, ITALY – NEUROPSICHIATRIA INFANTILE)
- ANTONIO TRABACCA (ASSOCIAZIONE “LA NOSTRA FAMIGLIA” – IRCCS “E. MEDEA” – SCIENTIFIC HOSPITAL FOR NEUROREHABILITATION – UNIT FOR SEVERE DISABILITIES IN DEVELOPMENTAL AGE AND YOUNG ADULTS (DEVELOPMENTAL NEUROLOGY AND NEUROREHABILITATION), BRINDISI, ITALY – NEUROLOGIA)
- MARIA CARMELA OLIVA (ASSOCIAZIONE “LA NOSTRA FAMIGLIA” – IRCCS “E. MEDEA” – SCIENTIFIC HOSPITAL FOR NEUROREHABILITATION – UNIT FOR SEVERE DISABILITIES IN DEVELOPMENTAL AGE AND YOUNG ADULTS (DEVELOPMENTAL NEUROLOGY AND NEUROREHABILITATION), BRINDISI, ITALY – TERAPIA DELLA NEURO E PSICOMOTRICITÀ DELL’ETÀ EVOLUTIVA)
- GIANCARLO PARENTI (METABOLIC RARE DISEASES UNIT, PEDIATRIC DEPARTMENT, AOU FEDERICO II, NAPOLI – PEDIATRIA)
- SIMONA FECAROTTA (METABOLIC RARE DISEASES UNIT, PEDIATRIC DEPARTMENT, AOU FEDERICO II, NAPOLI – PEDIATRIA)
- SABRINA SILIQUINI (CHILD NEUROPSYCHIATRY, G. SALESI PEDIATRIC HOSPITAL, MARCHE UNIVERSITY HOSPITAL – NEUROLOGIA)
- FEDERICA DEODATO (OSPEDALE PEDIATRICO BAMBINO GESÙ, ROMA – NEUROPSICHIATRIA INFANTILE)
- BENEDETTA GRECO (OSPEDALE PEDIATRICO BAMBINO GESÙ, ROMA – PSICOLOGIA)
- ALESSIA GRAZIOSI (OSPEDALE PEDIATRICO BAMBINO GESÙ, ROMA – FISIOTERAPIA )
- SERENA GASPERINI (METABOLIC RARE DISEASES UNIT, PEDIATRIC DEPARTMENT, FONDAZIONE IRCCS SAN GERARDO DEI TINTORI, MONZA – PEDIATRIA)
- VIOLA CRESCITELLI (METABOLIC RARE DISEASES UNIT, PEDIATRIC DEPARTMENT, FONDAZIONE IRCCS SAN GERARDO DEI TINTORI, MONZA – PEDIATRIA)
- GAIA KULLMANN (METABOLIC RARE DISEASES UNIT, PEDIATRIC DEPARTMENT, FONDAZIONE IRCCS SAN GERARDO DEI TINTORI, MONZA – NEUROPSICHIATRIA INFANTILE)
- RITA MARIA ELISA BARONE (UO CHILD NEUROPSYCHIATRY – DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE – UNIVERSITY OF CATANIA – NEUROPSICHIATRIA INFANTILE)
- LARA CIRNIGLIARO (UO CHILD NEUROPSYCHIATRY – DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE – UNIVERSITY OF CATANIA – NEUROPSICHIATRIA INFANTILE)
- FRANCESCA MENNI (METABOLIC RARE DISEASES UNIT, PEDIATRIC DEPARTMENT, FONDAZIONE IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, MILANO – PEDIATRIA)
- FRANCESCA FURLAN (METABOLIC RARE DISEASES UNIT, PEDIATRIC DEPARTMENT, FONDAZIONE IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, MILANO – PEDIATRIA)
- ANDREA CELATO (METABOLIC RARE DISEASES UNIT, PEDIATRIC DEPARTMENT, FONDAZIONE IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, MILANO – NEUROPSICHIATRIA INFANTILE)
- FEDERICO MONTI (METABOLIC RARE DISEASES UNIT, PEDIATRIC DEPARTMENT, FONDAZIONE IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, MILANO – PSICOLOGIA)
- ANGELA BERARDINELLI (IRCCS FONDAZIONE MONDINO, PAVIA – NEUROPSICHIATRIA INFANTILE)
- ARIANNA IOSCA (IRCCS FONDAZIONE MONDINO, PAVIA – NEUROPSICHIATRIA INFANTILE)
- ALICE GARDANI (IRCCS FONDAZIONE MONDINO, PAVIA – TERAPIA DELLA NEURO E PSICOMOTRICITÀ DELL’ETÀ EVOLUTIVA)
- ALBERTO BURLINA (DIVISION OF INHERITED METABOLIC DISEASES, DEPARTMENT OF WOMEN’S AND CHILDREN’S HEALTH, UNIVERSITY OF PADUA, 35128 PADUA, ITALY. – PEDIATRIA)
- VINCENZA GRAGNANIELLO (DIVISION OF INHERITED METABOLIC DISEASES, DEPARTMENT OF WOMEN’S AND CHILDREN’S HEALTH, UNIVERSITY OF PADUA, 35128 PADUA, ITALY. – PEDIATRIA)
- DANIELA GUERALDI (DIVISION OF INHERITED METABOLIC DISEASES, DEPARTMENT OF WOMEN’S AND CHILDREN’S HEALTH, UNIVERSITY OF PADUA, 35128 PADUA, ITALY. – NEUROPSICHIATRIA INFANTILE)
- CHIARA CAZZORLA (DIVISION OF INHERITED METABOLIC DISEASES, DEPARTMENT OF WOMEN’S AND CHILDREN’S HEALTH, UNIVERSITY OF PADUA, 35128 PADUA, ITALY. – PSICOLOGIA)
- ELENA PROCOPIO (INBORN METABOLIC AND MUSCULAR DISEASES UNIT, NEUROSCIENCE DEPARTMENT, CHILDREN’S HOSPITAL A. MEYER-UNIVERSITY OF FLORENCE IRCCS – PEDIATRIA)
- MICHELE SACCHINI (INBORN METABOLIC AND MUSCULAR DISEASES UNIT, NEUROSCIENCE DEPARTMENT, CHILDREN’S HOSPITAL A. MEYER-UNIVERSITY OF FLORENCE IRCCS – PEDIATRIA)
Presentatore
GLORIA GALLO
Modalità
Poster Session
Abstract
“Pompe Disease (PD) is an inherited metabolic disorder resulting from a deficiency of acid α-glucosidase (GAA). This deficiency leads to the accumulation of glycogen within lysosomes, primarily affecting skeletal and cardiac muscles, as well as other organs, including the nervous system.
Enzyme replacement therapy (ERT) has significantly impacted the natural course of the disease and a longer survival revealed the possible involvement of CNS. Indeed, motor and cognitive signs were reported, and ERT inability to cross the blood-brain barrier represents a significant drawback. Despite this, the neurocognitive profile of treated patients has not been adequately explored.
To address this gap, we present the protocol for an observational, prospective, and multicenter study involving pediatric patients with PD. These patients, ranging up to 18 years of age, are diagnosed with either the Infantile Onset (IOPD) or the Late Onset (LOPD) form of the disease. Over a two-year follow-up period, patients will undergo assessments every 6 months. These assessments will cover a wide range of aspects, including comprehensive medical history, anthropometric measurements, cognitive and neuropsychological functions, hearing, language, oral motor skills, gross motor functions. Additionally, data related to adaptive behavior, assistance requirements, and quality of life will be collected.
The primary objective of this study is to define the clinical characteristics of central nervous system (CNS) functions using a standardized longitudinal protocol in a large cohort of patients. As a secondary objective, we aim to develop a comprehensive protocol based on disease-specific care needs, ultimately resulting in consensus recommendations for multidisciplinary care.”