Anna Salvalaggio
Bladder and bowel dysfunction in spinal muscular atrophy: expanding the multidisciplinary care
Autori
- FEDERICA RICCI (DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, UNIVERSITY OF TURIN, TURIN, ITALY – NEUROPSICHIATRA INFANTILE)
- ALESSANDRA SOMÀ (DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, UNIVERSITY OF TURIN, TURIN, ITALY – SPECIALIZZANDA IN NEUROPSICHIATRIA INFANTILE)
- ELEONORA GUARNONE (DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, UNIVERSITY OF TURIN, TURIN, ITALY – SPECIALIZZANDA IN NEUROPSICHIATRIA INFANTILE)
- ANDREA BUSCAGLIA (DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, UNIVERSITY OF TURIN, TURIN, ITALY – STUDENTE DI MEDICINA)
- ROSSELLA D’ALESSANDRO (DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, UNIVERSITY OF TURIN, TURIN, ITALY – NEUROPSICHIATRA INFANTILE)
- ILARIA CAVALLINA (DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, UNIVERSITY OF TURIN, TURIN, ITALY – TNPEE)
- ENRICA ROLLE (DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, UNIVERSITY OF TURIN, TURIN, ITALY – TNPEE)
- TIZIANA MONGINI (DEPARTMENT OF NEUROSCIENCES RLM, NEUROMUSCULAR UNIT, UNIVERSITY OF TURIN, ITALY – NEUROLOGA)
- EUGENIO MERCURI (PEDIATRIC NEUROLOGY, UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME; CENTRO CLINICO NEMO, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME – NEUROPSICHIATRA INFANTILE)
- MARIKA PANE (PEDIATRIC NEUROLOGY, UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME; CENTRO CLINICO NEMO, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME – NEUROPSICHIATRIA INFANTILE)
- GIORGIA CORATTI (PEDIATRIC NEUROLOGY, UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME; CENTRO CLINICO NEMO, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME – TNPEE)
- MARTINA RICCI (PEDIATRIC NEUROLOGY, UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME; CENTRO CLINICO NEMO, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME – NEUROPSICHIATRA INFANTILE)
- ANNA CAPASSO (PEDIATRIC NEUROLOGY, UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME; CENTRO CLINICO NEMO, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME – NEUROPSICHIATRA INFANTILE)
- ADELE D’AMICO (DEPARTMENT OF NEUROSCIENCES, UNIT OF NEUROMUSCULAR AND NEURODEGENERATIVE DISORDERS, BAMBINO GESÙ CHILDREN’S HOSPITAL, IRCCS, ROME – NEUROLOGA)
- VALERIA SANSONE (THE NEMO CENTER IN MILAN, NEUROREHABILITATION UNIT, UNIVERSITY OF MILAN, ASST NIGUARDA HOSPITAL, ITALY – NEUROLOGA)
- CLAUDIO BRUNO (CENTER OF TRANSLATIONAL AND EXPERIMENTAL MYOLOGY, AND DEPARTMENT OF NEUROSCIENCE, REHABILITATION, OPHTALMOLOGY, GENETICS, MATERNAL AND CHILD HEALTH, UNIVERSITY OF GENOVA, IRCCS ISTITUTO GIANNINA GASLINI – PEDIATRA)
- SONIA MESSINA (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF MESSINA – NEUROLOGA)
- MICHELA COCCIA (DEPARTMENT OF NEUROLOGICAL SCIENCES, AOU OSPEDALI RIUNITI DI ANCONA – FISIATRA)
- GABRIELE SICILIANO (AOU PISANA (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE), NEUROLOGY UNIT, PISA – NEUROLOGO)
- ELENA PEGORARO (NEUROLOGY UNIT, AZIENDA OSPEDALE PADOVA, PADUA – NEUROLOGA)
- MARA TURRI (DEPARTMENT OF NEUROLOGY/STROKE UNIT, BOLZANO HOSPITAL, TRENTINO-ALTO ADIGE – NEUROLOGA)
- MASSIMILIANO FILOSTO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA; NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA – NEUROLOGO)
- GIACOMO COMI (NEUROLOGY UNIT, FONDAZIONE IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, MILAN; DINO FERRARI CENTER, DEPARTMENT OF PATHOPHYSIOLOGY AND TRANSPLANTATION, UNIVERSITY OF MILAN – NEUROLOGO)
- RICCARDO MASSON (FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO BESTA DEVELOPMENTAL NEUROLOGY UNIT, MILAN – NEUROPSICHIATRA INFANTILE)
- LORENZO MAGGI (NEUROIMMUNOLOGY AND NEUROMUSCULAR DISORDERS UNIT, FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO M.R., MILAN – NEUROLOGO)
- IRENE BRUNO (INSTITUTE FOR MATERNAL AND CHILD HEALTH, IRCCS, BURLO GAROFOLO, TRIESTE – PEDIATRA)
- MARIA GRAZIA D’ANGELO (NEUROMUSCULAR UNIT, SCIENTIFIC INSTITUTE IRCCS E. MEDEA, BOSISIO PARINI, LECCO – NEUROLOGA)
- ANTONIO TRABACCA (SCIENTIFIC INSTITUTE IRCCS “E. MEDEA”, UNIT FOR SEVERE DISABILITIES IN DEVELOPMENTAL AGE AND YOUNG ADULTS (DEVELOPMENTAL NEUROLOGY AND NEUROREHABILITATION), BRINDISI – NEUROLOGO)
- VERA VACCHIANO (UOC CLINICA NEUROLOGICA, IRCCS INSTITUTE OF NEUROLOGICAL SCIENCES OF BOLOGNA, EMILIA-ROMAGNA – NEUROLOGA)
- MARIA DONATI (METABOLIC UNIT, A. MEYER CHILDREN’S HOSPITAL, FLORENCE – PEDIATRA)
- ISABELLA SIMONE (NEUROLOGY UNIT, AZIENDA OSPEDALIERO-UNIVERSITARIA, POLICLINICO BARI “AMADUCCI”, BARI – NEUROLOGA)
- LUCIA RUGGIERO (DEPARTMENT OF NEUROSCIENCES, REPRODUCTIVE SCIENCES AND ODONTOSTOMATOLOGY, UNIVERSITY OF NAPLES FEDERICO II – NEUROLOGA)
- ANTONIO VARONE (DEPARTMENT OF NEUROSCIENCES, PEDIATRIC NEUROLOGY, SANTOBONO-PAUSILIPON CHILDREN’S HOSPITAL, NAPLES – NEUROLOGO)
- LORENZO VERRIELLO (NEUROLOGY UNIT, DEPARTMENT OF NEUROSCIENCES, UNIVERSITY HOSPITAL SANTA MARIA DELLA MISERICORDIA, UDINE, FRIULI-VENEZIA GIULIA – NEUROLOGO)
- ANGELA BERARDINELLI (DEPARTMENT OF CHILD NEUROPSYCHIATRY, FONDAZIONE ISTITUTO NEUROLOGICO NAZIONALE C MONDINO ISTITUTO DI RICOVERO E CURA A CARATTERE SCIENTIFICO, PAVIA – NEUROPSICHIATRA INFANTILE)
- CATERINA AGOSTO (DIPARTIMENTO DI SALUTE DELLA DONNA E DEL BAMBINO, UNIVERSITÀ DI PADOVA, PADUA – PEDIATRA)
- ANTONELLA PINI (IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA-UOC NEUROPSICHIATRIA INFANTILE – NEUROPSICHIATRA INFANTILE)
- MARIA ANTONIETTA MAIOLI (CENTRO SCLEROSI MULTIPLA, P.O. BINAGHI, ASSL CAGLIARI – NEUROLOGA)
- LUIGIA PASSAMANO (CARDIOMYOLOGY AND MEDICAL GENETICS UNIT, UNIVERSITÀ DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI SCUOLA DI MEDICINA E CHIRURGIA, NAPOLI – GENETISTA)
- FILIPPO BRIGHINA (SECTION OF NEUROLOGY, DEPARTMENT OF BIOMEDICINE, NEUROSCIENCE, AND ADVANCED DIAGNOSTICS (BIND), UNIVERSITY OF PALERMO – NEUROLOGO)
- NICOLA CARBONI (NEUROLOGY DEPARTMENT, HOSPITAL SAN FRANCESCO OF NUORO – NEUROLOGO)
- MATTEO GARIBALDI (DEPARTMENT OF NEUROSCIENCE, MENTAL HEALTH AND SENSORY ORGANS (NESMOS), SAPIENZA UNIVERSITY OF ROME, SANT’ANDREA HOSPITAL – NEUROLOGO)
- RICCARDO ZUCCARINO (NEUROMUSCULAR OMNICENTRE (NEMO) TRENTO-FONDAZIONE SERENA ONLUS, PERGINE VALSUGANA – FISIATRA)
- DELIO GAGLIARDI (PEDIATRIC NEUROLOGY UNIT, PEDIATRIC HOSPITAL“GIOVANNI XXIII”, BARI – NEUROLOGO)
- SABRINA SILIQUINI (CHILD NEUROPSYCHIATRY UNIT, PAEDIATRIC HOSPITAL G SALESI, ANCONA – NEUROPSICHIATRA INFANTILE)
- STEFANO PREVITALI (INSTITUTE OF EXPERIMENTAL NEUROLOGY (INSPE), DIVISION OF NEUROSCIENCE, IRCCS SAN RAFFAELE SCIENTIFIC INSTITUTE, MILAN – NEUROLOGO)
- DOMENICA TARUSCIO (NATIONAL CENTRE FOR RARE DISEASES, ISTITUTO SUPERIORE DI SANITÀ, ROME – ANATOMIA ED ISTOLOGIA PATOLOGICA)
- STEFANIA BOCCIA (SEZIONE DI IGIENE, ISTITUTO DI SANITÀ PUBBLICA, UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY – ANATOMIA PATOLOGICA)
- MARIA CARMELA PERA (PEDIATRIC NEUROLOGY, UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME; CENTRO CLINICO NEMO, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME – NEUROPSICHIATRA INFANTILE)
Presentatore
ANNA SALVALAGGIO (DEPARTMENT OF PUBLIC HEALTH AND PEDIATRIC SCIENCES, SECTION OF CHILD AND ADOLESCENT NEUROPSYCHIATRY, UNIVERSITY OF TURIN, TURIN, ITALY)
Modalità
Poster Session
Abstract
“Introduction: The advances in multidisciplinary care and the approval of disease-modifying therapies have contributed to change the clinal course of spinal muscular atrophy (SMA). However, some classical complications such as gastrointestinal symptoms (GIs) are still common, making multidisciplinary approach crucial for proper clinical care of SMA patients. The aim of this study was to evaluate the frequency, nature, treatment and impact of gastrointestinal symptoms in SMA patients.
Methods: We evaluated gastrointestinal symptoms reported in the ISMAC/ITASMAC registry, including 36 Italian referral centers for SMA. In a second stage, a cross-sectional study was conducted in Turin to more extensively assess bladder and bowel dysfunction. Children with a clinical and genetically confirmed diagnosis of SMA were recruited. Extensive medical history and blood exams were collected. The preliminary questionnaire included short questions concerning main topics regarding urological and gastrointestinal symptoms. Parents were asked to rate the influence of these symptoms on daily life, both from the patient’s as well as family perspective.
Results: Data from the ISMAC/ITASMAC registry will be presented. The registry currently collects data from 1175 patients. Gastroenteritis was the most frequently reported gastrointestinal event, followed by constipation and abdominal pain. Data from the pilot project in Turin will be presented as well. We included 23 children with SMA (6 walker, 13 sitter, 4 non-sitter).
Conclusion: We recommend screening for bladder and bowel dysfunction in the multidisciplinary care for children with SMA.”