Assessment of the central nervous system involvement in neuromuscular disorders: the evolution of outcome measures in childhood rare diseases

Neuromuscular disorders (NMDs) are a heterogeneous group of diseases that affect the survival and quality of life of patients and their families. Many NMDs are multisystemic, and the central nervous system (CNS) is often affected. The development of new pharmacological treatments and the improvement of standards of care have changed the clinical course of some NMDs, with implications for outcome measures in clinical trials and practice. Therefore, there is a need to better define the natural history of NMDs and to identify relevant outcome measures. Methods: Two monocentric longitudinal studies and one multicentric study, respectively focusing on the neuropsychological assessment for children with myotonic dystrophy type 1 (DM1), the diagnosis of spinal muscular atrophy (SMA), and the CNS involvement in Pompe disease, have been activated. Collaborations with national and international neuromuscular networks for clinical trials, longitudinal studies and registries for NMDs have also established. Results: Results of the study on DM1 children have been published: the baseline cognitive evaluation showed the presence of intellectual disability and neuropsychological impairments, and the follow-up cognitive evaluation revealed a significant decline after 2 years. A collaboration with a national project supported by Telethon is now ongoing. A multi-center study on CNS involvement in Pompe disease is about to begin. We have also published results from collaborations in national and international multi-center studies. Additions to the current state of the art: New information on the natural history of some NMDs and on outcome measures have been provided.