SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P.183 Patient reported health-related quality of life in pediatric patients with spinal muscular atrophy type 1, 2 and 3

Abstract

Spinal muscular atrophy (SMA) is a motor neuron disease that causes progressive muscle weakness and functional decline. Assessing health-related quality of life (HRQOL) in SMA patients is important in effectively managing and reducing disease burden. Limited data exists that compares HRQOL among patients with different types of SMA. Our study assessed patient reported HRQOL using the PedsQLTM 4.0 Generic Scales and PedsQLTM 3.0 Neuromuscular Module and examined the correlation of HRQOL with disease severity in patients with SMA type 1, 2, and 3. Both PedsQLTM 4.0 Generic Core Scales and PedsQLTM 3.0 Neuromuscular Module have established validity and reliability in the SMA population. We retrospectively studied electronic medical records of total 80 SMA patients with completion of at least one PedsQLTM questionnaire (47 females, 33 males, 23 with type 1, 35 with type 2, and 2 with type 3 SMA). Confirmed diagnosis type 1, type 2, or type 3 SMA was based on both genetic testing results and clinical presentation. For Spinraza treated patients, only data prior to Spinraza treatment were included in the analysis. A repeated measures linear model was used to examine that PedsQLTM scores. The scores were served as the response variable and independent variables included were patient demographics, SMA type, respiratory, motor and feeding status, insurance type, parent co-habitancy. Important (a-priori) interaction items were included if possible. Statistically significant parameter estimates for each independent variable were assessed. All child and parents reported PedsQLTM 4.0 Generic Core Scales and PedsQLTM 3.0 Neuromuscular Module scores were decreased in all three types of SMA patients with the most decreased scores seen in type 1 SMA patients. Physical dimension in the generic scales and all dimensions in the neuromuscular scales including disease, resource and communication were most affected. Scores in type 2 SMA patients were either similar or slightly increased comparing to the scores in type 1 patients except for significantly higher scores in communication dimension of the neuromuscular module in type 2 patients comparing to type 1 patients. In generic scales, social, school functioning and emotional dimensions were significantly affected in type 1 and 2 SMA patients.