The Italian registry for patients with Prader–Willi syndrome

Orphanet Journal of Rare Diseases

Research

Luisa De Sanctis¹  Maria Felicia Faienza²  Maurizio Delvecchio²  Annamaria Colao³  Enza Mozzillo³  Adriana Franzese³  Gabriella Pugliese³  Malgorzata Wasniewska⁴  Domenico Corica⁴  Francesca Dassie⁵  Laura Guazzarotti⁵  Pietro Maffei⁵  Stefano Stagi⁶  Antonino Crinò⁷  Giuseppa Patti⁸  Mohamad Maghnie⁸  Graziano Grugni⁹  Danilo Fintini^1,10  Sarah Bocchini^1,10  Michele Sacco^1,11  Irene Rutigliano^1,11  Gianluca Tornese^1,12  Sara Osimani^1,13  Paola Torreri^1,14  Marco Salvatore^1,14  Adele Rocchetti^1,14  Domenica Taruscio^1,14  Maurizio Elia^1,15  Donatella Greco^1,15  Corrado Romano^1,16  Emanuela Scarano^1,17  Concetta Schiavariello^1,17  Uberto Pagotto^1,18  Valentina Lo Preiato^1,18 

[1] AOU Città della Salute e della Scienza/Ospedale Infantile Regina Margherita and Dipartimento di Scienze di Sanità Pubblica e Pediatriche, Università di Torino, Turin, Italy;AOU Consorziale Policlinico Giovanni XXIII, Bari, Italy;AOU Federico II, Naples, Italy;AOU Policlinico “G. Martino”, Messina, Italy;Azienda Ospedale Università Padova (LG), Padua, Italy;Dipartimento di Medicina (DIMED), University of Padua (PM, FD), Padua, Italy;Azienda Ospedaliera Universitaria Meyer, Florence, Italy;Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario “Agostino Gemelli” IRCCS, Rome, Italy;Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genoa, Italy;Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy;Division of Auxology, Istituto Auxologico Italiano IRCCS, Piancavallo di Oggebbio, VB, Italy;IRCCS Bambino Gesù Paediatric Hospital, Rome, Italy;IRCCS Casa Sollievo della Sofferenza - San Giovanni Rotondo, Foggia, Italy;IRCCS Materno Infantile Burlo Garofolo, Trieste, Italy;IRCCS Ospedale San Raffaele, Milan, Italy;National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy;Oasi Research Institute – IRCCS, Troina, EN, Italy;Oasi Research Institute – IRCCS, Troina, EN, Italy;Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy;Rare Diseases Unit, Department of Pediatrics, IRCCS AOU Sant’Orsola, Bologna, Italy;Unità di Endocrinologia e Prevenzione e Cura del Diabete, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum Università di Bologna, Bologna, Italy;

关键词: Prader–Willi syndrome;    Registry;    Genetic diseases;    Rare diseases;    Quality;   

DOI  :  10.1186/s13023-023-02633-5

 received in 2022-09-09, accepted in 2023-02-06,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundPrader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease patient registries are important scientific tools (1) to collect clinical and epidemiologic data, (2) to assess the clinical management including the diagnostic delay, (3) to improve patients’ care and (4) to foster research to identify new therapeutic solutions. The European Union has recommended the implementation and use of registries and databases. The main aims of this paper are to describe the process of setting up the Italian PWS register, and to illustrate our preliminary results.Materials and methodsThe Italian PWS registry was established in 2019 with the aims (1) to describe the natural history of the disease, (2) to determine clinical effectiveness of health care services, (3) to measure and monitor quality of care of patients. Information from six different variables are included and collected into this registry: demographics, diagnosis and genetics, patient status, therapy, quality of life and mortality.ResultsA total of 165 patients (50.3% female vs 49.7% male) were included into Italian PWS registry in 2019–2020 period. Average age at genetic diagnosis was 4.6 years; 45.4% of patients was less than 17 years old aged, while the 54.6% was in adult age (> 18 years old). Sixty-one percent of subjects had interstitial deletion of the proximal long arm of paternal chromosome 15, while 36.4% had uniparental maternal disomy for chromosome 15. Three patients presented an imprinting centre defect and one had a de novo translocation involving chromosome 15. A positive methylation test was demonstrated in the remaining 11 individuals but the underlying genetic defect was not identified. Compulsive food-seeking and hyperphagia was present in 63.6% of patients (prevalently in adults); 54.5% of patients developed morbid obesity. Altered glucose metabolism was present in 33.3% of patients. Central hypothyroidism was reported in 20% of patients; 94.7% of children and adolescents and 13.3% of adult patients is undergoing GH treatment.ConclusionsThe analyses of these six variables allowed to highlight important clinical aspects and natural history of PWS useful to inform future actions to be taken by national health care services and health professionals.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

Fig. 2