PT - JOURNAL ARTICLE AU - Mirella Gaboli AU - Mercedes López-Lobato AU - Marcos Madruga-Garrido AU - Macarena Borrero-Rodriguez AU - Alejandro Palomo-Pavón AU - Rocio Escudero-Ávila TI - Respiratory Issues in patients with Spinal Muscular Atrophy (SMA) type 1, Treated with Disease-Modifying Therapy AID - 10.1183/13993003.congress-2021.PA3470 DP - 2021 Sep 05 TA - European Respiratory Journal PG - PA3470 VI - 58 IP - suppl 65 4099 - http://erj.ersjournals.com/content/58/suppl_65/PA3470.short 4100 - http://erj.ersjournals.com/content/58/suppl_65/PA3470.full SO - Eur Respir J2021 Sep 05; 58 AB - Backgruound: SMA is a devastating motor neuron disorder causing progressive respiratory insufficiency and, without respiratory support, about 68% of children die before their second birthday. Disease-modifying therapy improves survival and motor function, but data about respiratory outcome are sparse.Study design: Observational, longitudinal prospective cohort study of 11 children, followed since beginning of treatment, median age 5 months (2-86).Results: Respiratory support was proposed in a proactive way to all patients. Children treated in the early symptomatic period, age 5 months or below, type 1C patients did not need any respiratory support, were fed orally and had normal speech (N=3); type 1A (N=1) and type 1B (N=3) needed respiratory support, had no intelligible language and were fed by gastrostomy. Children treated in later stages of the disease, older than 5 months, type 1C (N=2) and type 1B (N=2), needed respiratory support, all but one child type 1C, were unable to feed orally. Thoracic circumference/head circumference ratio was >1 in all children treated early, but older bell-shaped chests did not ameliorate. New scoliosis developed in the type 1A child and 2 type 1B children, but not in early treated type 1C children. Antibiotic treatment and hospitalization for pulmonary infections were higher in type 1A and B patients (3/yr and 1/yr respectively), than in type 1C patients, (0/yr and 1/yr respectively). Bulbar symptoms and scoliosis positively correlated with respiratory infections. All children needed cough assistance.Conclusion: Bulbar symptoms positively correlate with the need of respiratory support and with pulmonary infections.FootnotesCite this article as: European Respiratory Journal 2021; 58: Suppl. 65, PA3470.This abstract was presented at the 2021 ERS International Congress, in session “Prediction of exacerbations in patients with COPD”.This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only).