Survival of patients with spinal muscular atrophy type 1.

6533b861fe1ef96bd12c4560

RESEARCH PRODUCT

Survival of patients with spinal muscular atrophy type 1.

G. Ottonello Maria Beatrice Chiarini Testa Elisabetta Bignamini Cesare Gregoretti Chiara Mastella Lucilla Ravà Aleksandar Veljkovic Renato Cutrera

subject

Male Palliative care Databases Factual medicine.medical_treatment Kaplan-Meier Estimate Spinal Muscular Atrophies of Childhood Severity of Illness Index Cohort Studies Retrospective Studie Cause of Death Palliative Care Prognosis Spinal muscular atrophy type 1 Child Preschool Home mechanical ventilation Breathing Female Long survival Survival Analysi Pediatric palliative care Human medicine.medical_specialty Prognosi Mechanical assisted cough Risk Assessment Statistics Nonparametric Arts and Humanities (miscellaneous)medicine Respiratory muscle Confidence Intervals Humans Decompensation Survival analysis Retrospective Studies Mechanical ventilation Noninvasive Ventilation business.industry Infant Newborn Oxygen Inhalation Therapy Infant Spinal muscular atrophy medicine.disease Respiration Artificial Survival Analysis Confidence interval Surgery Pediatrics Perinatology and Child Health Cohort Studie business Confidence Interval

description

BACKGROUND: Spinal muscular atrophy type 1 (SMA1) is a progressive disease and is usually fatal in the first year of life. METHODS: A retrospective chart review was performed of SMA1 patients and their outcomes according to the following choices: letting nature take its course (NT); tracheostomy and invasive mechanical ventilation (TV); continuous noninvasive respiratory muscle aid (NRA), including noninvasive ventilation; and mechanically assisted cough. RESULTS: Of 194 consecutively referred patients enrolled in this study (103 males, 91 females), NT, TV, and NRA were chosen for 121 (62.3%), 42 (21.7%), and 31 (16%) patients, respectively. Survival at ages 24 and 48 months was higher in TV than NRA users: 95% (95% confidence interval: 81.8%–98.8%) and 67.7% (95% confidence interval: 46.7%–82%) at age 24 months (P &lt; .001) and 89.43% and 45% at age 48 months in the TV and NRA groups, respectively (P &lt; .001). The choice of TV decreased from 50% (1992–1998) to 12.7% (2005–2010) (P &lt; .005) with a nonstatistically significant increase for NT from 50% to 65%. The choice of NRA increased from 8.1% (1999–2004) to 22.7% (2005–2010) (P &lt; .001). CONCLUSIONS: Long-term survival outcome is determined by the choice of the treatment. NRA and TV can prolong survival, with NRA showing a lower survival probability at ages 24 and 48 months.

year	journal	country	edition	language
2013-04-24	Pediatrics

10.1542/peds.2012-2278 https://pubmed.ncbi.nlm.nih.gov/23610208