Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study
Journal
Brain and Development
Journal Volume
43
Journal Issue
1
Pages
127-134
Date Issued
2021
Author(s)
Abstract
Introduction: Spinal muscular atrophy (SMA) is caused by a defect in the survival motor neuron 1 (SMN1) gene. The Cooperative Study of the natural history of SMA Type I in Taiwan is a retrospective, longitudinal, observational study that helps in further understanding SMA disease progression in patients who have not received disease-modifying therapeutic interventions. Methods: Case report forms were used to collect demographics; genetic confirmation; SMN2 copy number; treatment patterns; and clinical outcomes including ventilator use, endotracheal tube intubation, tracheostomy, gastrostomy, complications, and survival. Results: A total of 111 patients with SMA Type I were identified over the study period (1979–2015). Mean (median) age of onset and age at confirmed diagnosis were 1.3 (0.8) and 4.9 (4.4) months, respectively. SMN1 deletion/mutation was documented in 70 patients and SMN2 copy number in 32 (2 copies, n = 20; 3 copies, n = 12). At 240 months, survival probability for patients born during 1995–2015 versus 1979–1994 was significantly longer (p = 0.0057). Patients with 3 SMN2 copies showed substantially longer 240-month survival versus patients with 2 SMN2 copies. Over the 36-year period, mean (median) age at death was 31.9 (8.8) months. As of December 2015, 95 patients had died, 13 were alive, and 3 were lost to follow-up. The use of supportive measures (tracheostomy and gastrostomy) was associated with improved survival. Conclusions: These data describe the short survival of patients with SMA Type I in Taiwan in the pretreatment era, emphasizing the positive impact of supportive measures on survival. ? 2020 The Japanese Society of Child Neurology
Subjects
Natural history; SMN2 copies; Spinal muscular atrophy Type I; Survival
SDGs
Other Subjects
survival motor neuron protein 1; survival motor neuron protein 2; SMN1 protein, human; SMN2 protein, human; survival motor neuron protein; survival motor neuron protein 1; survival motor neuron protein 2; acute respiratory failure; Article; child; clinical outcome; cohort analysis; demography; endotracheal intubation; female; gastrointestinal hemorrhage; gastrostomy; gene deletion; gene mutation; genetic screening; human; infant; longitudinal study; major clinical study; male; median survival time; medical history; medical record review; multicenter study; nose feeding; nutritional support; observational study; onset age; pneumonia; retrospective study; rural area; sepsis; Taiwan; tracheostomy; urban area; Werdnig Hoffmann disease; Asian continental ancestry group; clinical trial; gene dosage; genetic predisposition; genetics; hereditary spinal muscular atrophy; metabolism; mortality; motoneuron; newborn; Asian Continental Ancestry Group; Female; Gene Dosage; Genetic Predisposition to Disease; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Motor Neurons; Retrospective Studies; SMN Complex Proteins; Spinal Muscular Atrophies of Childhood; Survival of Motor Neuron 1 Protein; Survival of Motor Neuron 2 Protein; Taiwan
Publisher
Elsevier B.V.
Type
journal article