Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.

INTRODUCTION: Nusinersen is associated with an improvement in motor function in children with spinal muscular atrophy (SMA) but data on respiratory muscles strength are scarce. Respiratory muscles performance and lung function were evaluated in children with SMA 1c and 2 after six injections of nusinersen (M14). Results from patients with SMA2 were compared with data of age-matched historical controls. Motor function tests (MFM and HINE-2) were assessed at baseline and M14 in the treated patients. RESULTS: Sixteen children (2 SMA Type 1c and 14 SMA Type 2), mean age 9.4 ± 2.3 years, were included. The data of 14 historical SMA 2 controls (mean age 9.3 ± 1.9 years) were gathered. The strength of the global inspiratory muscles of SMA 2 treated with nusinersen, assessed on maximal static inspiratory pressure, forced vital capacity, and esophageal pressure during a maximal sniff was significantly better compared with historical controls (p < .05). A significant improvement in MFM and HINE-2 was observed in the patients with 16 SMA treated with nusinersen after 14 months as compared with baseline. CONCLUSION: In children with SMA Type 2, respiratory muscle performance was significantly better after six injections of nusinersen as compared with age-matched SMA Type 2 historical controls.

[End-of-life in specialized medical pediatrics department: A French national survey]. / Fin de vie en services pédiatriques hospitaliers spécialisés : étude nationale.

AIMS: In France, most of children die in the hospital. This national survey aimed to achieve better understanding of end-of life care in specialized medical pediatrics departments for children facing the end-of-life, identify the available resources, put forward the difficulties encountered by professionals and describe end-of-life paths of children who died in these departments. MATERIAL AND METHODS: This study is based on a nationwide survey conducted among all existing specialized medical pediatrics departments (onco-haematology, neurology, reanimation) in France in 2015. RESULTS: Among 94 specialized medical pediatrics departments in France, 53 participated in our survey (response rate=56%). At the time of the survey, 13% of inpatients were facing the end-of-life. Regarding training, 13% of departments did not have personnel trained in palliative care and 21% did not set up any professional support. However, when taking care of a child's end of life in 2014, 77% of these departments solicited a regional resource team of pediatric palliative care. This survey helps describe 225 end-of-life paths of children decease of a terminal illness in the specialized pediatrics departments. Seventy-two percent suffered from refractory symptoms before their death, 64% were concerned by a terminal sedation and 75% by a limitation of life-sustaining treatment decision. CONCLUSION: End-of-life care is a reality for specialized pediatrics departments. The frequency of major and refractory symptoms often requires the completion of sedation. The resources of service are acceptable but some deficiencies have been noted especially concerning training and support for caregivers, adaptation of premises or family support.