{Reference Type}: Journal Article
{Title}: Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study.
{Author}: Ou SF;Ho CS;Lee WT;Lin KL;Jones CC;Jong YJ; ;
{Journal}: Brain Dev
{Volume}: 43
{Issue}: 1
{Year}: Jan 2021
{Factor}: 2.272
{DOI}: 10.1016/j.braindev.2020.07.012
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.