Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Capasso Anna, Cicala Gianpaolo, Ricci Martina, Pane Marika, D'Amico Adele, Bruno Claudio, Sansone Valeria Ada, Messina Sonia, Bello Luca, Pegoraro Elena, D'Angelo Maria Grazia, Masson Riccardo, Berardinelli Angela, Pini Antonella, Ricci Federica, Mongini Tiziana Enrica, Coccia Michela, Nigro Vincenzo, Trabacca Antonio, Filosto Massimiliano, Comi Giacomo, Magri Francesca, Barp Andrea, Battini Roberta, Previtali Stefano Carlo, Valentino Maria Lucia, Diella Eleonora, Dosi Claudia, Ruggiero Lucia, Siciliano Gabriele, Ricci Giulia, Catteruccia Michela, Arpaia Chiara, Coratti Giorgia, Norcia Giulia, Bonanno Silvia, Verriello Lorenzo, Agosto Caterina, Varone Antonio, Ferlini Alessandra, Maioli Maria Antonietta, Brogna Claudia, Siliquini Sabrina, Bruno Irene, Panicucci Chiara, Allegra Cosimo, Albamonte Emilio, Mercuri Eugenio, Italian DMD group
Аннотация
METHODS: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form. We assessed age distribution, motor function, and the need for respiratory and nutritional support to evaluate their prevalence in different age and functional subgroups.
RESULTS: The estimated prevalence was 1.65/100,000 (3.4/100,000 males). There were 972 boys and adults with a confirmed diagnosis of Duchenne, of age ranging between 6 months and 48 years (mean = 16.5). Over 59% were below the age of 18 years and the remaining 41% were adults. Over 43% were ambulant and 57% non-ambulant; 14.7% were steroids naive (mean 20.6 years), 75% are currently on steroids (mean 14.6 years) with 604 on the daily regime, 126 intermittent. Nearly 73% did not require any ventilatory support, 16% had NIV ≤ 12 h, 9% > 12 h, and 1.4% had a tracheostomy. More than 82% did not require any nutritional support, 13% required food modification/semisolid and 4.4% had a G-tube.
CONCLUSIONS: Our findings provide information to be used not only for epidemiological purposes but also for possible trial design to include older non-ambulant patients who until recently have been excluded and for whom clinical information is limited. What is Known • Duchenne muscular dystrophy is a progressive disorder associated with reduced survival. • As part of the disorder there is also a progressive loss of important milestones, including loss of ambulation, and increased need for respiratory and nutritional support. What is New • Our nationwide survey provides prevalence, age distribution, and functional status for Duchenne muscular dystrophyin Italy including both boys and adults. • Our findings can be used for epidemiological purposes and for possible trial design.