Liliana Vercelli
Transition in Glycogen Storage Disease type 2 (GSD2): state of art in Italian Centers
Autori
- LILIANA VERCELLI (NEUROMUSCULAR UNIT, DEPARTMENT OF NEUROSCIENCES AND MENTAL HEALTH, MOLINETTE HOSPITAL, TORINO – NEUROLOGY)
- GIULIO GADALETA (NEUROMUSCULAR UNIT, DEPARTMENT OF NEUROSCIENCES AND MENTAL HEALTH, MOLINETTE HOSPITAL, TORINO – NEUROLOGY)
- GUIDO URBANO (NEUROMUSCULAR UNIT, DEPARTMENT OF NEUROSCIENCES AND MENTAL HEALTH, MOLINETTE HOSPITAL, TORINO – NEUROLOGY)
- ENRICA ROLLE (NEUROMUSCULAR UNIT, DEPARTMENT OF NEUROSCIENCES AND MENTAL HEALTH, MOLINETTE HOSPITAL, TORINO – PHYSICAL THERAPIST)
- SERENA GASPERINI (METABOLIC RARE DISEASES UNIT, PEDIATRIC DEPARTMENT, FONDAZIONE IRCCS SAN GERARDO DEI TINTORI, MONZA – PEDIATRICS)
- FRANCESCA MENNI (IRCCS CA’ GRANDA, POLICLINICO MAGGIORE HOSPITAL, MILANO – PEDIATRICS)
- MICHELE SACCHINI (INBORN METABOLIC AND MUSCULAR DISEASES UNIT, NEUROSCIENCE DEPARTMENT, CHILDREN’S HOSPITAL A. MEYER IRCCS, FIRENZE – PEDIATRICS)
- SABRINA SILIQUINI (DEPARTMENT OF CHILD NEUROPSYCHIATRY, CHILDREN’S HOSPITAL ‘G. SALESI’, ANCONA – CHILD NEUROPSYCHIATRY)
- ANTONIO TRABACCA (SCIENTIFIC HOSPITAL FOR NEUROREHABILITATION UNIT FOR SEVERE DISABILITIES IN DEVELOPMENTAL AGE AND YOUNG ADULTS (DEVELOPMENTAL NEUROLOGY AND NEUROREHABILITATION), BRINDISI – NEUROLOGY)
- FEDERICA RICCI (SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, UNIVERSITY OF TURIN, TORINO – CHILD NEUROPSYCHIATRY)
- TIZIANA MONGINI (NEUROMUSCULAR UNIT, DEPARTMENT OF NEUROSCIENCES AND MENTAL HEALTH, MOLINETTE HOSPITAL, TORINO – NEUROLOGY)
Presentatore
LILIANA VERCELLI (NEUROMUSCULAR UNIT, DEPARTMENT OF NEUROSCIENCES AND MENTAL HEALTH, MOLINETTE HOSPITAL, TORINO)
Modalità
Oral Communication
Abstract
“Transition in neuromuscular disorders refers to the period of change that patients experience when they move from pediatric to adult healthcare services. This transition is crucial as it encompasses not only medical aspects but also psychosocial, life planning, practical support.
Transitioning individuals with Infantile-Onset Pompe Disease (IOPD) or juvenile Late-Onset Pompe Disease (LOPD) to adult care is a significant milestone. However, specific indications in current standards of care are not specified, with a lack of details regarding transition timing and modalities.
We have conducted a survey involving Italian Pediatric Centers caring for IOPD or juvenile forms of LOPD patients focusing on the applied schedule of transition to adult care services. Six centers responded to our query: two centers followed pediatric patients only (therefore outside transition window), while four units have performed transition to adult care for a total of nine patients.
The age at diagnosis ranged from 3 months to 47 years, with conjunct pediatrician-neurologist transition visit occurring from 17 to 55 years. All patients, except one asymptomatic adult female, are currently receiving enzyme replacement treatment. Eight/9 individuals are ambulant, with two cases on invasive/non-invasive mechanical ventilation.
Our survey demonstrates a lack of consensus on transition aspects in patients with LOPD and IOPD reaching adulthood. Accordingly, many adult patients were still being treated and followed-up in pediatric centers. Transition requires standards of procedure regarding healthcare professionals to be involved, patients’ overall clinical status and their families’ social needs.”