Age and sex prevalence estimate of Joubert syndrome in Italy.
(2020) Neurology — Vol. 94, n° 8, p. e797-e801 (2020)
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Nuovo, Sara 
- 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.
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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, E. M., & Vanacore, N. (2020). Age and sex prevalence estimate of Joubert syndrome in Italy. Neurology, 94(8), e797-e801. https://doi.org/10.1212/WNL.0000000000008996 (Original work published 2020)