ROMANO , Catia

Background: This study aimed to show the impairment of autonomic cardiac conduction causing bradycardia and/or electrocardiographic alterations in children affected by spinal muscular atrophy type 1 and 2 (SMA 1 and 2). Methods: We included 25 spinal muscular atrophy patients, admitted from November 2016 to May 2017. All patients underwent an...

Introduction: Tele-monitoring (TM) has proved effective in the home management of adult ventilator-dependent neuromuscular disease (NMD) patients. We aimed to evaluate a 2-year longitudinal multicentre TM trial designed for young ventilated NMD patients in terms of feasibility, home management of exacerbations and caregivers' burden. Methods:...

In the last few years, whole exome sequencing (WES) allowed the identification of PRUNE mutations in patients featuring a complex neurological phenotype characterized by severe neurodevelopmental delay, microcephaly, epilepsy, optic atrophy, and brain or cerebellar atrophy. We describe an additional patient with homozygous PRUNE mutation who...