Evidence map›Paper›PMID 40405235›Full record

ArticleOrphanet journal of rare diseases2025

Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey.

Alice Rossi, Chiara Pancaldi, Maria Giulia Regazzi, Giulio Agnelli, Valentina Assirelli, Antonio Barbato, Federico Baronio, Andrea Benso, Silvia Maria Bernabei, Giacomo Biasucci and 58 more

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68 authors.

Alice Rossi *Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Via Albertoni 15, 40138, Bologna, Italy.
Chiara Pancaldi *Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Via Albertoni 15, 40138, Bologna, Italy.
Maria Giulia RegazziClinical Nutrition and Metabolism Unit, IRCCS AOUBO, Via Albertoni 15, 40138, Bologna, Italy.
Giulio AgnelliDepartment of Medical and Surgical Sciences, University of Bologna, Via Zamboni 33, 40126, Bologna, Italy.
Valentina AssirelliPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138, Bologna, Italy.
Antonio BarbatoDepartment of Clinical Medicine and Surgery, University of Naples "Federico II", Via Pansini 5, 80131, Naples, Italy.
Federico BaronioPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138, Bologna, Italy.
Andrea BensoDivision of Endocrinology, Diabetology and Metabolism, Department of Medical Sciences, University of Turin, Corso Dogliotti 14, 10126, Turin, Italy.
Silvia Maria BernabeiDepartment SITRA Nutritional Rehabilitation Unit, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
Giacomo BiasucciDepartment of Medicine and Surgery, University of Parma, Via Gramsci 14, 43125, Parma, Italy.
Mara BottiMetabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.
Cristina BonfantiMetabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.
Andrea BordugoRegional Coordinating Centre for Rare Diseases, University Hospital of Udine, Piazzale Santa Maria Della Misericordia 15, 33100, Udine, Italy.
Giulia BruniDietetic Unit, Meyer Children University Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy.
Alberto BurlinaDivision of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, Via Giustiniani 2, 35128, Padua, Italy.
Egidio CandelaPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138, Bologna, Italy.
Maria Teresa CarboneUOSD Metabolic Diseases, AORN Santobono-Pausilipon, Via Fiore 6, 80129, Naples, Italy.
Rosa CarellaDepartment of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Piazza Giulio Cesare 11, 70124, Bari, Italy.
Francesca CarubbiMetabolic Internal Medicine Unit, University Hospital of Modena at Baggiovara, University of Modena and Reggio Emilia, Via Giardini 1355, 41126, Modena, Italy.
Annalia CianfloneMetabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.
Alessandra CiprianiDietetic Unit, Meyer Children University Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy.
Silvia CoacciUOSD Diabetology, AST Fermo, Via Gigliucci 1, 63900, Fermo, Italy.
Giuliana Da PratoDivision of Endocrinology, Diabetes and Metabolism, Department of Medicine, University Hospital of Verona, Piazzale Aristide Stefani 1, 37126, Verona, Italy.
Sabrina De LeoUnit of Child Neurology and Psychiatry, Department of Human Neruroscience, University Hospital Policlinico Umberto I of Rome, Sapienza University of Rome, Via Dei Sabelli 108, 00185, Rome, Italy.
Valeria Di NatalePediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138, Bologna, Italy.
Alice DianinPediatric Unit Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata di Verona, Piazzale Aristide Stefani 1, 37126, Verona, Italy.
Carlo Dionisi ViciDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
Ilaria FasanDivision of Clinical Nutrition, Department of Medicine, University Hospital, Via Giustiniani 2, 35128, Padua, Italy.
Stefania FerraroPediatric Unit, Department of Health Sciences, Magna Graecia University of Catanzaro, Viale Europa, 88100, Catanzaro, Italy.
Massimiliano FilostoDepartment of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Via Nava 4, 25064, Brescia, Italy.
Serena GasperiniMetabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.
Sara GiordaDepartment of Pediatrics, Metabolic Diseases, University of Torino, Via Verdi 8, 10124, Turin, Italy.
Giorgia GugelmoDivision of Metabolic Diseases, Department of Medicine, University Hospital of Padova, Via Giustiniani 2, 35128, Padua, Italy.
Chiara GuzzettiSSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico "A. Cao", Via Jenner 18, 09121, Cagliari, Italy.
Concetta LatinaClinical Pediatrics and Pediatric Endocrinology and Diabetology, Azienda Ospedaliera Universitaria Policlinico "G. Rodolico-San Marco", Via Sofia 78, 95123, Catania, Italy.
Christian LoroDivision of Clinical Nutrition, Department of Medicine, University Hospital, Via Giustiniani 2, 35128, Padua, Italy.
Evelina MainesDivision of Pediatrics, S. Chiara General Hospital, APSS Trento, Largo Medaglie d'oro 9, 38122, Trento, Italy.
Giacomo MarchiInternal Medicine Unit and MetabERN Health Care Provider, University Hospital of Verona, Piazzale Aristide Stefani 1, 37126, Verona, Italy.
Elena MassiminoDepartment of Clinical Medicine and Surgery, University of Naples "Federico II", Via Pansini 5, 80131, Naples, Italy.
Dorina MitaDepartment of Medical and Surgical Sciences, University of Bologna, Via Zamboni 33, 40126, Bologna, Italy.
Francesca NardecchiaDepartment of Human Neuroscience, Sapienza University, Viale Dell'Università 30, 00185, Rome, Italy.
Davide NotoDepartment of Health Promotion, Maternal and Child Health, Internal and Specialized Medicine of Excellence "G. D. Alessandro" (PROMISE), University of Palermo, Piazza Marina 61, 90133, Palermo, Italy.
Rita OrtolanoPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, 40138, Bologna, Italy.
Sabrina PaciDepartment of the Women and the Child, Inborn Errors of Metabolism, San Paolo Hospital - ASST Santi Paolo e Carlo University of Milan, Via Antonio Di Rudinì 8, 20142, Milan, Italy.
Rossella PariniMetabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.
Sara ParolisiUOSD Metabolic Diseases, AORN Santobono-Pausilipon, Via Fiore 6, 80129, Naples, Italy.
Giulia PaternoDepartment of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Piazza Giulio Cesare 11, 70124, Bari, Italy.
Lidia PontilloNutritional Center, Giannina Gaslini Pediatric Institute IRCCS, Via Gaslini 5, 16147, Genoa, Italy.
Angela PozzoliPediatrics and Neonatology Unit, Regional Referral Clinical Center for Inborn Errors of Metabolism, Regional Referral Clinical Center for Pediatric Eating Disorders, Lipigen National Pediatric Center, Guglielmo da Saliceto Hospital, Via Taverna 49, 29121, Piacenza, Italy.
Roberta PreteseMetabolic Rare Disease Unit, Pediatric Department, IRCCS San Gerardo Hospital, Via Pergolesi 33, 20900, Monza, Italy.
Sara QuattriniDepartment of Pediatrics, Polytechnic University of Marche, Piazza Roma 22, 60121, Ancona, Italy.
Alice Re DionigiClinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, Via Antonio di Rudinì 8, 20142, Milan, Italy.
Valentina RovelliDepartment of the Women and the Child, Inborn Errors of Metabolism, San Paolo Hospital - ASST Santi Paolo e Carlo University of Milan, Via Antonio Di Rudinì 8, 20142, Milan, Italy.
Simona SaleraRegional Clinical Center for Expanded Newborn Screening, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Sforza 35, 20122, Milan, Italy.
Ferruccio SantiniEndocrinology Unit, Obesity and Lipodystrophy Center, University Hospital of Pisa, Via Paradisa 8, 56124, Pisa, Italy.
Iris ScalaDepartment of Maternal and Child Health, Federico II University Hospital, Via Pansini 5, 80131, Naples, Italy.
Annalisa SechiRegional Coordinating Centre for Rare Diseases, University Hospital of Udine, Piazzale Santa Maria Della Misericordia 15, 33100, Udine, Italy.
Claudia SgattoniMedical Genetics and Rare Disease Coordination, Institute of Maternal-Infantile Sciences, Ospedali Riuniti, Presidio Torrette,Via Conca 61, 60126, Ancona, Italy.
Michele StecchiClinical Nutrition and Metabolism Unit, IRCCS AOUBO, Via Albertoni 15, 40138, Bologna, Italy.
Alessandra TavianSOSD Technical Health Care Professions - Dietitian and Regional Coordinating Centre for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Piazzale Santa Maria Della Misericordia 15, 33100, Udine, Italy.
Antonio ToscanoDepartment of Clinical and Experimental Medicine, ERN-NMD Center of Messina for Rare Neuromuscular Disorders, University of Messina, Piazza Pugliatti 1, 98122, Messina, Italy.
Albina TummoloDepartment of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Piazza Giulio Cesare 11, 70124, Bari, Italy.
Maria Letizia UrbanDepartment of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.
Elena VerrecchiaDepartment of Aging, Orthopaedic and Rheumatological Sciences, Centre for Continuity of Care and Frailty, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168, Rome, Italy.
Nicola VitturiDivision of Metabolic Diseases, Department of Medicine, University Hospital of Padova, Via Giustiniani 2, 35128, Padua, Italy.
Claudia ZuppaldiDepartment of Translational Medicine, University of Naples "Federico II", Via Pansini 5, 80131, Naples, Italy.
Juri ZuvadelliClinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, Via Antonio di Rudinì 8, 20142, Milan, Italy.
Lucia BrodosiClinical Nutrition and Metabolism Unit, IRCCS AOUBO, Via Albertoni 15, 40138, Bologna, Italy. lucia.brodosi2@unibo.it.ORCID http://orcid.org/0000-0002-7735-7847

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPatients affected by inherited metabolic diseases (IMDs), through effective newborn screening and better clinical management, are living longer and have a lower burden of disease; this rises the challenge of properly taking life-long care of them as they age. This study aims to assess the Italian experience with the transition of patients affected by IMDs from pediatrician to adult care, focusing on the dietetic approach as well. For this purpose, a survey was created on REDCap® and distributed via email to the members of the "Dietetics and Nutrition Working Group" and "Inherited Metabolic Diseases in Adults Working Group" of "Italian IMD and Newborn Screening Society" (SIMMESN); dissemination was possible with the collaboration of MetabERN.

resultsA total of 49 complete responses were collected-28 from medical doctors (MDs) and 21 from dietitians-from 35 different centers. Considering the MDs, 13 take care of pediatric patients; the remaining 15, with heterogeneous specialization, of adults with IMDs. Considering the dietitians, only 6 deal with IMDs patients as their full-time activity. Out of the 35 centers, 19 do not have a transition program (while 10/19 are already trying to implement it); the main barrier identified to the implementation voted by 42% of participants is represented by the lack of identification of a suitable facility. Considering the 16 centers that already have a transition program, the 2 main difficulties reported by 43% of participants were the lack of a psychologist for adult centers and the lack of specific training in IMDs on the adult service team; this last option was also the most voted by the dietitians (44%).

conclusionsThe administered survey allows us to capture the state of transition programs in Italy, the lack of homogeneity in those centers that already have one, and the obstacles to developing a new program. What unequivocally emerged is the need for standardization of the transition program and for delineating a path to train MDs specialized in treating adult patients with IMDs, as well as dedicated dietitians.

Indexed as

Metabolic DiseasesNutritionistsPediatriciansPhysiciansAdultFemaleHumansInfant, NewbornItalyMaleNeonatal ScreeningSurveys and QuestionnairesTransition to Adult CareAdolescent healthInherited metabolic diseasesItalian surveyTransition

Identifiers

PMID40405235
PMCPMC12100843

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