The Motor Melody in action Planning: The Case of Autistic Children and their Non-Autistic Siblings.

Objective: it is well known that during an intentional behavior, the final goal of the action shapes the entire sequence of motor acts. This chained organization has been previously demonstrated to be altered in school-age autistic children, who modulate only the final motor act according to the action goal. Here, we investigate the temporal modulation during the intentional action in three groups of preschoolers: neurotypical, autistic, and non-autistic siblings of autistic children.

Motor unit number estimation via MScanFit MUNE in spinal muscular atrophy.

Introduction/aims: MScanFit MUNE (MScanFit) is a novel tool to derive motor unit number estimates (MUNEs) from compound muscle action potential (CMAP) scans. Few studies have explored its utility in 5q spinal muscular atrophy (SMA5q) patients, assessing only the abductor pollicis brevis (APB) muscle. We aimed to assess different distal muscles in pediatric and adult SMA5q patients, further evaluating clinical-electrophysiological correlations.

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.

Myofibrillar myopathies are a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk, causing the disintegration of myofibrils. They may be caused by mutations in different genes, among these, the BAG3 gene (Bcl-2 associed-athanogene-3) encodes a multidomain protein that plays an important role in many cellular processes. We report the case of a 16-year-old male who at 4 years of age presented with a hypertrophic obstructive cardiomyopathy, then developed axonal sensory motor polyneuropathy, muscle weakness, rigid spine, severe kyphoscoliosis and respiratory failure.