Características de los pacientes con atrofia muscular espinal en seguimiento en un hospital público pediátrico. Estudio descriptivo

Abstract

Introduction and objective

To describe the clinical characteristics of children with spinal muscular atrophy (SMA) followed at a Paediatric Hospital during 2021.

Patients and methods

Observational, cross-sectional, retrospective study.

Results

Of 74 patients included 41.9% were female, median age 96 (RIQ 60 - 135) months. Patients SMA type 1 n = 16 (24.6%); 2 n = 41 (55.4%); 3 n = 17 (23%). Median age at diagnosis for SMA 1: 6 (RIQ 4.2 - 7.7) months; 2: 16 (RIQ 12 - 24) months and 3: 36 (RIQ 24.5 - 48) months. Current motor status was described: 23 (31.1%) subjects lost motor achievements, 4 (5.4%) gained motor skills and 47 (63.5%) maintained functional level. Regarding access to standards of care, 55 (74.3%) had access to physical therapy and 67 (90.5%) had adequate equipment. 58 children (78.3%) had scoliosis. Regarding the respiratory profile, 65 (87%) subjects were performing airway clearance techniques; 31 (42.4%) required ventilatory support. 14 (18.9%) patients required hospitalization for respiratory intercurrences. Regarding pharmacological treatment, 40 (54%) participants received nusinersen.

Conclusion

Of the 74 patients, the majority were SMA 2, male, from Buenos Aires area and were enrolled in school. More than half maintained the highest motor achievement for their classification and phenotype. Noninvasive ventilation was the predominant method of ventilation. The incidence of hospitalizations for respiratory causes was low. Most had access to the necessary medical treatment and equipment.