0000000000146194
AUTHOR
Messina Sonia
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type,SMN2copy number, and treatment were collected.ResultsOne thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0…
Alexithymia, burden and resilience in ALS’ caregivers
Living with a progressively disease such as Amyotrophic lateral sclerosis (ALS) has a strong impact on the people affected and on their relatives, who have to tackle the demanding duties of caring for and assisting them (Tramonti et al., 2014). Many factors modulate the levels of burden in ALS’ caregivers: disease related factors, personality related factors, enviromental factors. Dennison et al (2001) showed that alexithymia could to contribute to increasing distress in ALS’ caregivers, but there are very few studies on this. Other studies supporting the role of resilience such as protective factor (Ripamonti, 2015). The aim of the study is to assess the relationship between alexithymia, r…