Data di Pubblicazione:
2020
Abstract:
Objective: To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.
Methods: We enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available.
Results: We identified 284 patients with JS: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% confidence interval [CI] 0.41-0.53), 0.41 (95% CI 0.32-0.49), and 0.53 (95% CI 0.45-0.61) per 100,000 population, respectively. When we considered only patients in the age range from 0 to 19 years, the corresponding population-based prevalence rates rose to 1.7 (95% CI 1.49-1.97), 1.62 (95% CI 1.31-1.99), and 1.80 (95% CI 1.49-2.18) per 100,000 population. NGS analysis allowed identifying the genetic cause in 131 of 219 screened probands. Age at diagnosis was available for 223 probands, with a mean of 6.67 ± 8.10 years, and showed a statistically significant linear relationship with chronological age (r 2 = 0.79; p < 0.001).
Conclusions: We estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients' genetic profile. The obtained population-based prevalence rate was ≈10 times higher than that available in literature for children population.
Methods: We enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available.
Results: We identified 284 patients with JS: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% confidence interval [CI] 0.41-0.53), 0.41 (95% CI 0.32-0.49), and 0.53 (95% CI 0.45-0.61) per 100,000 population, respectively. When we considered only patients in the age range from 0 to 19 years, the corresponding population-based prevalence rates rose to 1.7 (95% CI 1.49-1.97), 1.62 (95% CI 1.31-1.99), and 1.80 (95% CI 1.49-2.18) per 100,000 population. NGS analysis allowed identifying the genetic cause in 131 of 219 screened probands. Age at diagnosis was available for 223 probands, with a mean of 6.67 ± 8.10 years, and showed a statistically significant linear relationship with chronological age (r 2 = 0.79; p < 0.001).
Conclusions: We estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients' genetic profile. The obtained population-based prevalence rate was ≈10 times higher than that available in literature for children population.
Tipologia CRIS:
01.01 - Articolo in rivista
Keywords:
Joubert syndrome, Italy
Elenco autori:
Nuovo, S; Bacigalupo, I; Ginevrino, M; Battini, R; Bertini, E; Borgatti, R; Casella, A; Micalizzi, A; Nardella, M; Romaniello, R; Serpieri, V; Zanni, G; Valente, Em; Vanacore, N; JS Italian Study Group: Patrizia Accorsi, JS Italian Study Group.; Alfei, Enrico; Andreucci, Elena; Ardissino, Gianluigi; Avola, Emanuela; Barone, Rita; Benedicenti, Francesco; Bigoni, Stefania; Boccone, Loredana; Bonati, Maria T.; Bova, Stefania; Briguglio, Marilena; Briuglia, Silvana; Calabrese, Olga; Cantalupo, Gaetano; Caridi, Gianluca; Cazzagon, Monica; Celle, Maria E.; Cilio, Maria R.; Coppola, Giangennaro; D’Amico, Adele; D’Arrigo, Stefano; Daniele De Brasi, ; Maria Fulvia de Leva, ; Ennio Del Giudice, ; Marilena Carmela Di Giacomo, ; Maria Lucia Di Sabato, ; Dallapiccola, Bruno; Devescovi, Raffaella; Digilio, MARIA CRISTINA; Donati, Ilaria; Donati, Maria A.; Dotti, Maria T.; Emma, Francesco; Fabretto, Antonella; Fazzi, Elisa; Ferlini, Alessandra; Ferraris, Alessandro; Giovanni Battista Ferrero, ; Ficcadenti, Anna; Fiori, Simona; Fischetto, Rita; Freri, Elena; Garavelli, Livia; Gentile, Mattia; Giordano, Lucio; Greco, Donatella; Izzi, Claudia; Leuzzi, Vincenzo; Lucarelli, Elisabetta; Majore, Silvia; Mancardi, Maria M.; Mari, Francesca; Marra, Giuseppina; Mazzanti, Laura; Melis, Daniela; Micaglio, Emanuele; Mirabelli-Badenier, Marisol; Moroni, Isabella; Nardocci, Nardo; Nosadini, Margherita; Orcesi, Simona; Pagani, Giovanni; Pantaleoni, Chiara; Francesco Papadia Papadia, ; Parisi, Pasquale; Maria Grazia Patricelli, ; Peruzzi, Cinzia; Pessagno, Alice; Piccione, Maria; Pini, Antonella; Pisano, Tiziana; Pisciotta, Livia; Pollazzon, Marzia; Rivieri, Francesca; Romano, Alfonso; Romano, Corrado; Salviati, Leonardo; Carmelo Damiano Salpietro, ; Santucci, Margherita; Scarano, Emanuela; Scelsa, Barbara; Sensi, Alberto; Seri, Marco; Signorini, Sabrina; Silengo, Margherita; Simonati, Alessandro; Sirchia, Fabio; Spaccini, Luigina; Stanzial, Franco; Stringini, Gilda; Trevisson, Eva; Trivelli, Antonella; Uliana, Vera; Uziel, Graziella; Vasco, Gessica; Vascotto, Marina; Vitiello, Giuseppina; Zibordi, Federica
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