Publications by authors named "A Berardinelli"
Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.
Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.
Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy.
Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form.
Article Synopsis
- Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene, impacting dystrophin production in muscle tissues, which is important for patient care and treatment development.
- A study of 943 BMD patients revealed the median age at diagnosis was 7.5 years, with significant findings including that about 13.5% lost mobility by an estimated age of 69, while 30% experienced cardiac issues.
- Different types of DMD mutations correlated with variations in disease progression, particularly affecting loss of ambulation and heart functionality, highlighting the importance of precise genetic characterization for managing BMD.
Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. This was an observational multicenter study.
View Article and Find Full Text PDFAim: To investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and developmental outcomes.
Method: This was a descriptive case series of children with congenital myotonic dystrophy (CDM) and childhood-onset myotonic dystrophy (ChDM). Parental timing of DM1 diagnosis and the perinatal, motor, and cognitive outcomes of paediatric patients were recorded.