The natural history of infant spinal muscular atrophy in China: A study of 237 patients

Journal of Child Neurology

Volumn 27, Issue 4, 2012, Pages 471-477

  Ge, Xiushan ^a   Bai, Jinli ^a   Lu, Yanyu ^a   Qu, Yujin ^a   Song, Fang ^a  

^a CAPITAL INSTITUTE OF PEDIATRICS   (China)

Author keywords

natural history; spinal muscular atrophy; survival analysis; survival motor neuron 1 gene

Indexed keywords

ANTIBIOTIC AGENT;

ANTIBIOTIC THERAPY; ARTICLE; ASIAN; CHILD; CHINA; CONTROLLED STUDY; DISEASE CLASSIFICATION; DYSPHAGIA; FEEDING DISORDER; FEMALE; HUMAN; INFANT SPINAL MUSCULAR ATROPHY; KYPHOSCOLIOSIS; MAJOR CLINICAL STUDY; MALE; ONSET AGE; ORTHOSIS; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RELIABILITY; RETROSPECTIVE STUDY; SCHOOL CHILD; SPINAL MUSCULAR ATROPHY; SURVIVAL RATE;

AGE OF ONSET; CHINA; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LONGITUDINAL STUDIES; MALE; MUSCULAR ATROPHY, SPINAL; PROBABILITY; RETROSPECTIVE STUDIES; SEX FACTORS; SURVIVAL ANALYSIS;

EID: 84859330710     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811420152     Document Type: Article

References (12)

1. Ogino S, Wilson RB, Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet. 2004;12(12):1015-1023. (Pubitemid 39600129)
2. Zhu S, Xiong F, Chen YJ, et al. Molecular characterization of SMN copy number derived from carrier screening and from core families with spinal muscular atrophy in a Chinese population. Eur J Hum Genet. 2010;18(9):978-984.
3. Piepers S, van den Berg LH, Brugman F, et al. A natural history study of late onset spinal muscular atrophy types 3b and 4.JNeurol. 2008;255(9):1400- 1404.
4. Lunn Mitchell R, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120-2133. (Pubitemid 351842582)
5. Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007;69(20):1931-1936. (Pubitemid 350100351)
6. Zerres K, Davies KE. 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria, 17-19 April 1998, Soestduinen, the Netherlands. Neuromuscul Disord. 1999;9(4):272-278. (Pubitemid 29287265)
7. Zerres K, Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52(5):518-523.
8. Souchon F, Simard LR, Lebrun S, Rochette C, Lambert J, Vanasse M. Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy. Neuromuscul Disord. 1996;6(6):419-424. (Pubitemid 27052783)
9. Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004;114(5):e548-553. (Pubitemid 41655751)
10. Bertini E, Burghes A, Bushby K, et al. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, the Netherlands. Neuromuscul Disord. 2005;15(11):802-816. (Pubitemid 41476298)
11. Zerres K, Rudnik-Schöneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III spinal muscular atrophy): 569 patients. J Neurol Sci. 1997;146(1):67-72.
12. Wang CH, Finkel RS, Bertini ES, et al. Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049.