Reply to correspondence from Cobben and de Visser- ?SMN2-deletion in childhood-onset spinal muscular atrophy?

2002 ◽  
Vol 109 (3) ◽  
pp. 247-247
Author(s):  
Sandhya Srivastava ◽  
Monisha Mukherjee ◽  
Inusha Panigrahi ◽  
Gouri Shankar Pandey ◽  
Balraj Mittal ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Childhood Onset

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

2002 ◽  
Vol 22 (8) ◽  
pp. 703-709 ◽  
Author(s):  
S. Savas ◽  
S. Eraslan ◽  
S. Kantarci ◽  
B. Karaman ◽  
D. Acarsoz ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Childhood Onset

scholarly journals Healthcare Utilization, Costs of Care, and Mortality Among Patients With Spinal Muscular Atrophy

2019 ◽  
Vol 6 (3) ◽  
pp. 185-195 ◽  
Author(s):  
Hiangkiat Tan ◽  
Tao Gu ◽  
Er Chen ◽  
Rajeshwari Punekar ◽  
Perry B. Shieh
Keyword(s):  
Spinal Muscular Atrophy ◽  
Healthcare Utilization ◽  
Late Onset ◽  
Muscular Atrophy ◽  
Healthcare Resource Utilization ◽  
Administrative Claims ◽  
Childhood Onset ◽  
Non Invasive ◽  
Costs Of Care ◽  
Non Invasive Ventilation

Objectives: To understand treatment patterns, healthcare resource utilization, and costs of care among patients with spinal muscular atrophy (SMA). Methods: SMA patients were identified from a large managed care population using administrative claims data from January 2006 to March 2016. Patients were classified into infantile, childhood-onset, and late-onset groups based on age of first SMA diagnosis. They were matched 1:1 to non-SMA patients based on age, gender, geography, and health plan type. Results: In the infantile group, 17.4% and 26.1% were treated with invasive and non-invasive ventilation, respectively. Uses of orthotics/orthoses and orthopedic surgery were frequent: 54.5% and 22.7% childhood group; 27.0% and 38.5% late-onset group. Mean per member per month costs in SMA vs. matched non-SMA patients was $25,517 vs. $406 (infantile); $6,357 vs. $188 (childhood-onset); $2,499 vs. $742 (late-onset). Conclusions: SMA patients, particularly with infantile onset, incurred significantly higher healthcare utilization and costs than the general population.

SMN2-deletion in childhood-onset spinal muscular atrophy

2001 ◽  
Vol 101 (3) ◽  
pp. 198-202 ◽  
Author(s):  
Sandhya Srivastava ◽  
Monisha Mukherjee ◽  
Inusha Panigrahi ◽  
Gouri Shanker Pandey ◽  
Sunil Pradhan ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Childhood Onset

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3

Nature ◽  
1990 ◽  
Vol 344 (6266) ◽  
pp. 540-541 ◽  
Author(s):  
L. M. Brzustowicz ◽  
T. Lehner ◽  
L. H. Castilla ◽  
G. K. Penchaszadeh ◽  
K. C. Wilhelmsen ◽  
...  
Keyword(s):  
Genetic Mapping ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Childhood Onset ◽  
Chronic Childhood

Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy

1996 ◽  
Vol 6 (6) ◽  
pp. 419-424 ◽  
Author(s):  
Frédérique Souchon ◽  
Louise R. Simard ◽  
Solange Lebrun ◽  
Camille Rochette ◽  
Jean Lambert ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Genetic Study ◽  
Muscular Atrophy ◽  
Childhood Onset

Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients

2015 ◽  
Vol 60 (11) ◽  
pp. 723-728 ◽  
Author(s):  
Miloš Brkušanin ◽  
Ana Kosać ◽  
Vladimir Jovanović ◽  
Jovan Pešović ◽  
Goran Brajušković ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Joint Effect ◽  
Childhood Onset
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