Introduction : Pulmonary involvement is the main prognostic factor in children with spinal muscular atrophy (SMA). Nusinersen, a new treatment modality, is being evaluated in recent studies, although the respiratory part has not yet been clarified. We aimed to reveal the effects of nusinersen on the respiratory functions of patients with spinal muscular atrophy (SMA). Methods : In this single-center randomised study, conducted between June 2020/July 2021, patients with SMA were evaluated before and during nusinersen therapy. Data were collected on respiratory status, nutritional support, motor involvement, and other comorbidities that may affect the disease prognosis. Results : Patients with the number of 43 (18 type1, 12 type2, 13 type3) with a mean age of diagnosis of 10 months (range 1.5-192) and 24 months (3-219) at the start of nusinersen therapy were included. An improvement in respiratory status was noted in six patients between the second and third assessment. SMN2 copy numbers were significantly associated with better prognosis. Early initiation of nusinersen was significantly correlated with reduced hospital admissions. Nutritional support and weight gain were remarkable in the ventilatory supported group. A significant improvement was observed in motor functions, and chop-intend scores were statistically significantly higher in non-tracheostomized group (p<0.005). Conclusion : We think that nusinersen’s effect may be significant with early initiation and continuation of treatment. Improvements in respiratory functions noted in our study require to be supported with future long-term studies considering the overall genetic and environmental status, even the cost-effectiveness,to make a global consensus on nusinersen therapy.

Objectives: To follow-up pediatric CF patients—in terms of health status and nutritional status—via Telehealth services during the COVID-19 pandemic. Additional aims were to measure the level of anxiety in the patients and their parents, and to determine the COVID-19 transmission status in the CF patients. Materials and Methods: The CF team supported the patients via remote contact, including dedicated telephone lines. During Telehealth Services interviews, in addition to obtaining information about the patients’ anthropometric measurements, health status, and CF-related complaints, the State-Trait Anxiety Inventory (STAI) was administered to the patients and the Hospital Anxiety and Depression Scale (HAD) was administered to their parents. Results: The study included 144 pediatric CF patients (74 male and 70 female). Mean age of the patients was 8.9 years. In all, 42 (29.2%) of the patients were tested for COVID-19, of which 4 were positive. The mean STAI score was significantly lower in the patient group than in the control group (P < 0.001). The mean HAD anxiety score was significantly higher in the parents of the CF patients, as compared to the parents of the controls (P = 0.005). The mean HAD depression score was also statistically higher in the parents of the CF patients (P < 0.001). Conclusion: Telehealth is an innovative method for providing healthcare services while maintaining social distancing, avoiding the risk of exposure and spread of COVID-19. Telehealth services reduce patients’ and parents’ anxiety, and increases their confidence in managing CF-related complications.