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

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

Abstract Background Patients 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 a...

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Main Authors: Alice Rossi, Chiara Pancaldi, Maria Giulia Regazzi, Giulio Agnelli, Valentina Assirelli, Antonio Barbato, Federico Baronio, Andrea Benso, Silvia Maria Bernabei, Giacomo Biasucci, Mara Botti, Cristina Bonfanti, Andrea Bordugo, Giulia Bruni, Alberto Burlina, Egidio Candela, Maria Teresa Carbone, Rosa Carella, Francesca Carubbi, Annalia Cianflone, Alessandra Cipriani, Silvia Coacci, Giuliana Da Prato, Sabrina De Leo, Valeria Di Natale, Alice Dianin, Carlo Dionisi Vici, Ilaria Fasan, Stefania Ferraro, Massimiliano Filosto, Serena Gasperini, Sara Giorda, Giorgia Gugelmo, Chiara Guzzetti, Concetta Latina, Christian Loro, Evelina Maines, Giacomo Marchi, Elena Massimino, Dorina Mita, Francesca Nardecchia, Davide Noto, Rita Ortolano, Sabrina Paci, Rossella Parini, Sara Parolisi, Giulia Paterno, Lidia Pontillo, Angela Pozzoli, Roberta Pretese, Sara Quattrini, Alice Re Dionigi, Valentina Rovelli, Simona Salera, Ferruccio Santini, Iris Scala, Annalisa Sechi, Claudia Sgattoni, Michele Stecchi, Alessandra Tavian, Antonio Toscano, Albina Tummolo, Maria Letizia Urban, Elena Verrecchia, Nicola Vitturi, Claudia Zuppaldi, Juri Zuvadelli, Lucia Brodosi
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Adolescent health
Transition
Inherited metabolic diseases
Italian survey
Online Access:https://doi.org/10.1186/s13023-025-03755-8
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Summary:Abstract Background Patients 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. Results A 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%). Conclusions The 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.
ISSN:1750-1172

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