Parents' perspectives on nusinersen treatment for children with spinal muscular atrophy.

AIM: To gain insight into parents' perspectives about their decision-making process concerning nusinersen treatment for their child, including perceived needs and concerns, and to explore factors that influence this process. METHOD: This was an exploratory qualitative interview study among parents of children with spinal muscular atrophy types 1 to 3. Data were analysed using inductive thematic analysis. RESULTS: Nineteen parents of 16 children representing 13 families participated. A wide variety of perspectives was reported ranging from a biomedical approach, which focused on battling the disease, to a holistic approach, which aimed for a good quality of life for their child. The most important factors that helped parents to decide were honest and neutral communication with their physician and access to available information. INTERPRETATION: It is important physicians understand that there are different perspectives influencing the decision-making process. Physicians should create an environment that allows parents to accept or reject treatment by communicating honestly and openly with them and by discussing both options extensively. Clear information about pros and cons, recent developments in research, and the experiences of other parents should be made available to enable parents to make an informed decision. What this paper adds Parents perceived different needs and concerns about nusinersen treatment, which emphasized individual differences. Parents' perspectives varied from battling the disease to preserving quality of life. Life expectancy, stopping deterioration, and improving quality of life were the perceived benefits of nusinersen treatment. Open communication about the pros and cons of treatment with clinicians facilitated decision-making. Clear and honest information facilitated the alignment of values and goals.

Monitoring daily physical activity of upper extremity in young and adolescent boys with Duchenne muscular dystrophy: A pilot study.

INTRODUCTION: Accelerometry of the upper extremity (UE) potentially provides information on the extent of activities in daily life in patients with Duchenne muscular dystrophy (DMD). The objective of this study is to evaluate the validity of home measurements of UE accelerometry. METHODS: This was a cross-sectional study in 16 patients with DMD (aged 7-17 years). Patients were monitored for 1 to 3 days with two accelerometers on the UE and one accelerometer on the wheelchair. RESULTS: The mean intensity of activity and the mean frequency of transfers of arm elevation from low to middle were approximately twofold higher in patients with a Brooke scale score of 1 or 2 than in patients with a Brooke scale score of 3 or 4. Correlations with the Performance of Upper Limb scale score were high for intensity and for the total frequency of arm elevations per hour. DISCUSSION: Intensity, percentage of time in middle orientation, and frequency of transfers of the upper arm correlated well with functional measurements.