Journal of Child Neurology

 

Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

http://mc.manuscriptcentral.com/childneurology

Click here to sign up for SAGE Journal Email Alerts today!

Sign In to gain access to subscriptions and/or personal tools.
This Article
Right arrow Abstract Freely available
Right arrow Free Full Text (Free PDF) Free
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via ISI Web of Science (1)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Wang, C. H.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Wang, C. H.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?
Journal of Child Neurology, Vol. 22, No. 8, 1027-1049 (2007)
DOI: 10.1177/0883073807305788

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

Ching H. Wang, MD, PhD

Stanford University Medical Center, Stanford, California, wangch{at}stanford.edu

Richard S. Finkel, MD

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

Enrico S. Bertini, MD

Bambino Gesu' Children's Research Hospital, Rome, Italy

Mary Schroth, MD

University of Wisconsin Children's Hospital, Madison

Anita Simonds, MD

Sleep & Ventilation Unit, Royal Brompton & Harefield NHS Trust, London, England

Brenda Wong, MD

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio

Annie Aloysius, MRCSLT, HPC

Hammersmith Hospital, London, England

Leslie Morrison, MD

University of New Mexico Health Sciences Center, Albuquerque

Marion Main, MCSP, MA

Hammersmith Hospital, London, England

Thomas O. Crawford, MD

The Johns Hopkins Hospital, Baltimore, Maryland

Anthony Trela, BS

Stanford University Medical Center, Stanford, California

Participants of the International Conference on SMA Standard of Care

Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not been matched by similar developments in the care for spinal muscular atrophy patients. Variations in medical practice coupled with differences in family resources and values have resulted in variable clinical outcomes that are likely to compromise valid measure of treatment effects during clinical trials. The International Standard of Care Committee for Spinal Muscular Atrophy was formed in 2005, with a goal of establishing practice guidelines for clinical care of these patients. The 12 core committee members worked with more than 60 spinal muscular atrophy experts in the field through conference calls, e-mail communications, a Delphi survey, and 2 in-person meetings to achieve consensus on 5 care areas: diagnostic/new interventions, pulmonary, gastrointestinal/nutrition, orthopedics/rehabilitation, and palliative care. Consensus was achieved on several topics related to common medical problems in spinal muscular atrophy, diagnostic strategies, recommendations for assessment and monitoring, and therapeutic interventions in each care area. A consensus statement was drafted to address the 5 care areas according to 3 functional levels of the patients: nonsitter, sitter, and walker. The committee also identified several medical practices lacking consensus and warranting further investigation. It is the authors' intention that this document be used as a guideline, not as a practice standard for their care. A practice standard for spinal muscular atrophy is urgently needed to help with the multidisciplinary care of these patients.

Key Words: spinal muscular atrophy • standard of care • consensus statement

References

  • Hirtz D., Iannaccone S., Heemskerk J., et al. Challenges and opportunities in clinical trials for spinal muscular atrophy. Neurology. 2005;65:1352-1357.[Abstract/Free Full Text]
  • Delbecq A., Van de Ven A., Gustafson D. The Delphi technique. In: Delbecq A, Van de Ven A, Gustafson D, et al, eds. Group Techniques for Program Planning: A Guide to Nominal Group and Delphi Processes. Madison, Wis: Scott Foresman; 1975:83-107.
  • Ruperto N., Ravelli A., Murray KJ, et al. Preliminary core sets of measures for disease activity and damage assessment in juvenile systemic lupus erythematosus and juvenile dermatomyositis. Rheumatology. 2003;42:1452-1459.[Abstract/Free Full Text]
  • Wallace CA, Ruperto N., Giannini E; Childhood Arthritis and Rheumatology Research Alliance; Pediatric Rheumatology International Trials Organization; Pediatric Rheumatology Collaborative Study Group. Preliminary criteria for clinical remission for select categories of juvenile idiopathic arthritis. J Rheumatol. 2004;31:2290-2294.[ISI][Medline] [Order article via Infotrieve]
  • Lux AL, Osborne JP A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. Epilepsia. 2004; 45:1416-1428.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Munsat TL The spinal muscular atrophies. Current Neurology. St Louis, Mo: Mosby; 1994:55-71.
  • Munsat TL, Davies KE International SMA consortium meeting (26-28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992;2:423-428.[Medline] [Order article via Infotrieve]
  • Dubowitz V. Disorders of the lower motor neurone: the spinal muscular atrophies. In: Dubowitz V, ed. Muscle Disorders in Childhood. London: W B Saunders; 1995:325-367.
  • Zerres K., Rudnik-Schoneborn S., Forrest E., et al. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997;146:67-72.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol. 1999; 3:49-51.[Medline] [Order article via Infotrieve]
  • 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;15:802-816.[CrossRef][Medline] [Order article via Infotrieve]
  • Zerres K., Rudnik-Schoneborn S. 93rd ENMC international workshop: Non-5q-spinal Muscular Atrophies (SMA)—Clinical Picture (6-8 April 2001, Naarden, the Netherlands). Neuromuscul Disord. 2003;13:179-183.[CrossRef][Medline] [Order article via Infotrieve]
  • Isozumi K., DeLong R., Kaplan J., et al. Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. Hum Mol Genet. 1996;5:1377-1382.[Abstract/Free Full Text]
  • DeLong R., Siddique T. A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. Arch Neurol. 1992;49:905-908.[Abstract]
  • Barth PG Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev. 1993;15:411-422.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Chou SM Controversy over Werdnig-Hoffmann disease and multiple system atrophy. Curr Opin Neurol. 1993;6:861-864.[ISI][Medline] [Order article via Infotrieve]
  • Chou SM, Gilbert EF, Chun RW, et al. Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol. 1990;9:21-32.[ISI][Medline] [Order article via Infotrieve]
  • Gorgen-Pauly U., Sperner J., Reiss I., et al. Familial pontocerebellar hypoplasia type I with anterior horn cell disease. Eur J Paediatr Neurol. 1999;3:33-38.[CrossRef][Medline] [Order article via Infotrieve]
  • Ryan MM, Cooke-Yarborough CM, Procopis PG, Ouvrier RA Anterior horn cell disease and olivopontocerebellar hypoplasia. Pediatr Neurol. 2000;23:180-184.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Greenberg F., Fenolio KR, Hejtmancik JF, et al. X-linked infantile spinal muscular atrophy. Am J Dis Child. 1988;142: 217-219.[Abstract]
  • Kobayashi H., Baumbach L., Matise TC, et al. A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2. Hum Mol Genet. 1995;4:1213-1216.[Abstract/Free Full Text]
  • Grohmann K., Varon R., Stolz P., et al. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol. 2003;54:719-724.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Grohmann K., Schuelke M., Diers A., et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet. 2001;29:75-77.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Rodrigues NR, Owen N., Talbot K., et al. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet. 1995;4:631-634.[Abstract/Free Full Text]
  • Lefebvre S., Burglen L., Frezal J., et al. The role of the SMN gene in proximal spinal muscular atrophy. Hum Mol Genet. 1998;7: 1531-1536.[Abstract/Free Full Text]
  • Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005;57:704-712.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Zerres K., Wirth B., Rudnik-Schoneborn S. Spinal muscular atrophy—clinical and genetic correlations. Neuromuscul Disord. 1997;7:202-207.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Am J Hum Genet. 1995;57: 1233-1241.[Medline] [Order article via Infotrieve]
  • Mellies U., Dohna-Schwake C., Stehling F., Voit T. Sleep disordered breathing in spinal muscular atrophy. Neuromuscul Disord. 2004; 14:797-803.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Mellies U., Ragette R., Dohna Schwake C, et al. Long-term noninvasive ventilation in children and adolescents with neuromuscular disorders. Eur Respir J. 2003;22:631-636.[Abstract/Free Full Text]
  • Ragette R., Mellies U., Schwake C., et al. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax. 2002;57:724-728.[Abstract/Free Full Text]
  • Lyager S., Steffensen B., Juhl B. Indicators of need for mechanical ventilation in Duchenne muscular dystrophy and spinal muscular atrophy. Chest. 1995;108:779-785.[ISI][Medline] [Order article via Infotrieve]
  • Ioos C., Leclair-Richard D., Mrad S., et al. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest. 2004;126:831-837.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Barois A., Estournet-Mathiaud B. Ventilatory support at home in children with spinal muscular atrophies (SMA). Eur Respir Rev. 1992;10:319-322.
  • Barois A., Estournet-Mathiaud B. Nasal ventilation in congenital myopathies and spinal muscular atrophies. Eur Respir Rev. 1993;3:275-278.
  • Simonds AK, Ward S., Heather S., et al. Outcome of paediatric domiciliary mask ventilation in neuromuscular and skeletal disease. Eur Respir J. 2000;16:476-481.[Abstract]
  • Mellins RB, Hays AP, Gold AP, et al. Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics. 1974;53:33-40.[Abstract/Free Full Text]
  • Manzur AY, Muntoni F., Simonds A. Muscular dystrophy campaign sponsored workshop: recommendation for respiratory care of children with spinal muscular atrophy type II and III. 13th February 2002, London, UK. Neuromuscul Disord. 2003; 13:184-189.[CrossRef][Medline] [Order article via Infotrieve]
  • Wallgren-Pettersson C., Bushby K., Mellies U., Simonds A. 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders—congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, the Netherlands. Neuromuscul Disord. 2004;14:56-69.[CrossRef][Medline] [Order article via Infotrieve]
  • Standards and indications for cardiopulmonary sleep studies in children. Am J Respir Crit Care Med. 1996;153:866-878.[ISI][Medline] [Order article via Infotrieve]
  • Marcus CL Sleep-disordered breathing in children. Am J Respir Crit Care Med. 2001;164:16-30.[Free Full Text]
  • Bush A., Fraser J., Jardine E., et al. Respiratory management of the infant with type 1 spinal muscular atrophy. Arch Dis Child. 2005;90:709-711.[Abstract/Free Full Text]
  • Bach JR Mechanical insufflation-exsufflation. Comparison of peak expiratory flows with manually assisted and unassisted coughing techniques. Chest. 1993;104:1553-1562.[ISI][Medline] [Order article via Infotrieve]
  • Bach JR, Niranjan V., Weaver B. Spinal muscular atrophy type 1: a noninvasive respiratory management approach. Chest. 2000; 117:1100-1105.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Bach JR, Baird JS, Plosky D., et al. Spinal muscular atrophy type 1: management and outcomes. Pediatr Pulmonol. 2002; 34:16-22.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Chatwin M., Ross E., Hart N., et al. Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness. Eur Respir J. 2003;21:502-508.[Abstract/Free Full Text]
  • Finder JD, Birnkrant D., Carl J., et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med. 2004;170:456-465.[Free Full Text]
  • Ward S., Chatwin M., Heather S., Simonds AK Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax. 2005;60:1019-1024.[Abstract/Free Full Text]
  • Bach JR, Bianchi C. Prevention of pectus excavatum for children with spinal muscular atrophy type 1. Am J Phys Med Rehabil. 2003;82:815-819.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Simonds AK Ethical aspects of home long term ventilation in children with neuromuscular disease. Paediatr Respir Rev. 2005;6:209-214.[CrossRef][Medline] [Order article via Infotrieve]
  • Willig TN, Paulus J., Lacau-Saint-Guily J., et al. Swallowing problems in neuromuscular disorders. Arch Phys Med Rehab. 1994;75:1175-1181.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Nutman J., Nitzan M., Grunebaum M. Swallowing disturbances in Werdning-Hoffmann disease. Harefuah. 1981;101:301-303, 336.
  • Tilton Ah Mm, Khoshoo V. Nutrition and swallowing in pediatric neuromuscular patients. Semin Pediatr Neurol. 1998;5:106-115.[CrossRef][Medline] [Order article via Infotrieve]
  • Granger MW, Buschang PH, Throckmorton GS, Iannaccone ST Masticatory muscle function in patients with spinal muscular atrophy. Am J Orthod Dentofacial Orthop. 1999;115:697-702.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Houston KD, Buschang PH, Iannaccone ST, Seale NS Craniofacial morphology of spinal muscular atrophy. Pediatr Res. 1994;36:265-269.[ISI][Medline] [Order article via Infotrieve]
  • Grunebaum M., Nutman J., Nitzan M. The pharyngo-laryngeal deficit in the acute form of infantile spinal muscular atrophy (Werdnig-Hoffmann disease). Pediatr Radiol. 1981;11:67-70.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Roulet E., Deonna T. Vocal cord paralysis as a presenting sign of acute spinal muscular atrophy, SMA type I. Arch Dis Child. 1992;67(3):352.[ISI][Medline] [Order article via Infotrieve]
  • Lapena JF Jr, Berkowitz RG Neuromuscular disorders presenting as congenital bilateral vocal cord paralysis. Ann Otol Rhinol Laryngol. 2001;110:952-955.[ISI][Medline] [Order article via Infotrieve]
  • Hill M., Hughes T., Milford C. Treatment for swallowing difficulties (dysphagia) in chronic muscle disease. Cochrane Database Syst Rev. 2004;2:CD004303.[Medline] [Order article via Infotrieve]
  • Birnkrant DJ, Pope JF, Martin JE, et al. Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding. Pediatr Neurol. 1998;18:407-410.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Diaz DM, Gibbons TE, Heiss K., et al. Antireflux surgery outcomes in pediatric gastroesophageal reflux disease. Am J Gastroenterol. 2005;100(8):1844-1852.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Yuan N., Wang CH, Trela A., Albanese CT Combined laparoscopic Nissen fundoplication during gastrostomy tube placement and noninvasive ventilation improve survival in children with type 1 and severe type II SMA. J Child Neurol. In press.
  • Canani RB, Cirillo P., Roggero P., et al. Working Group on Intestinal Infextions of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP). Therapy with gastric acidity inhibitors increases the risk of acute gastroenteritis and community-acquired pneumonia in children. Pediatrics. 2006; 117:e817-e820.[Abstract/Free Full Text]
  • Laheij RJ, Sturkenboom MC, Hassing RJ, et al. Risk of community-acquired pneumonia and use of gastric acid-suppressive drugs. JAMA. 2004;292:1955-1960.[Abstract/Free Full Text]
  • Ruben JA, Jones TD, Geist NR Respiratory and reproductive paleophysiology of dinosaurs and early birds. Physiol Biochem Zool. 2003;76:141-164.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Liusuwan Awl, Abresch RT, McDonald CM Altered body composition affects resting energy expenditure and interpretation of body mass index in children with spinal cord injury. J Spinal Cord Med. 2004;27(Suppl 11):S24-S28.[ISI][Medline] [Order article via Infotrieve]
  • Lee RD, Nieman DC Nutritional assessment. Madison, Wis: Brown & Benchmark; 1993:172-173, Appendix O.
  • Jones M., Campbell KA, Duggan C., et al. Multiple micronutrient deficiencies in a child fed an elemental formula. J Pediatr Gastroenterol Nutr. 2001;33:602-605.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Kinali M., Banks LK, Mercuri E., et al. Bone mineral density in a paediatric spinal muscular atrophy population. Neuropediatrics. 2004;35(6):325-328.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Chan GM Performance of dual-energy x-ray absorptiometry in evaluating bone, lean body mass, and fat in pediatric subjects. J Bone Miner Res. 1992;7:369-374.[ISI][Medline] [Order article via Infotrieve]
  • Crabtree NJ, Kibirige MS, Fordham JN, et al. The relationship between lean body mass and bone mineral content in pediatric health and disease. Bone. 2004;35:965-972.[Medline] [Order article via Infotrieve]
  • Margulies L., Horlick M., Thornton JC, et al. Reproducibility of whole body bone and body composition measures by dual-energy X-ray absorptiometry using GE Lunar Prodigy. J Clin Densitometry. 2005;8:298-304.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Swoboda KJ, McNaught TP, Gill G., et al. Total body lean mass and bone mineral content in spinal muscular atrophy [abstract]. Presented at: the American Society for Pediatric Research; May, 2005; Warrington, Pa.
  • Bruce AK, Jacobsen E., Dossing H., Kondrup J. Hypoglycaemia in spinal muscular atrophy. Lancet. 1995;346(8975):609-610.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Orngreen MC, Sacho M., Hebert A., et al. Patients with severe muscle wasting are prone to develop hypoglycemia during fasting. Neurology. 2003;61:997-1000.[Abstract/Free Full Text]
  • Berger A., Mayr JA, Meierhofer D., et al. Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathol. 2003;105(3):245-251.[Medline] [Order article via Infotrieve]
  • Bresolin N., Freddo L., Tegazzin V., et al. Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment. J Neurol. 1984;231:170-175.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Crawford TO, Sladky JT, Hurko O., et al. Abnormal fatty acid metabolism in childhood spinal muscular atrophy. Ann Neurol. 1999:337-343.
  • Gobernado JM, Gosalvez M., Cortina C., et al. Mitochondrial functions in chronic spinal muscular atrophy. J Neurol Neurosurg Psychiatry. 1980;June:546-549.
  • Ohtake E. Secondarily reduced cytochrome c oxidase activity in various neuromuscular disorders. Brain Dev. 1990;12:326-333.[ISI][Medline] [Order article via Infotrieve]
  • Sperl W., Skladal D., Gnaiger E., et al. High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders. Mol Cell Biochem. 1997:71-78.
  • Tein I., Sloane AE, Donner EJ Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)? Pediatr Neurol. 1995;12:21-30.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Tews DS, Goebel HH DNA fragmentation and BCL-2 expression in infantile spinal muscular atrophy. Neuromuscul Disord. 1996;6(4):265-273.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Russman BS, Buncher CR, White M., et al. Function changes in spinal muscular atrophy II and III. The DCN/SMA Group. Neurology. 1996;47:973-976.[Abstract/Free Full Text]
  • Eng GD, Binder H., Koch B. Spinal muscular atrophy: experience in diagnosis and rehabilitation management of 60 patients. Arch Phys Med Rehabil. 1984;65:549-553.[ISI][Medline] [Order article via Infotrieve]
  • Barois A., Mayer M., Desguerre I., et al. Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases). Bull Acad Natl Med. 2005;189:1181-1198, discussion 1198-1199.[ISI]
  • Sporer SM, Smith BG Hip dislocation in patients with spinal muscular atrophy. J Pediatr Orthop. 2003;23:10-14.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Granata C., Magni E., Merlini L., Cervellati S. Hip dislocation in spinal muscular atrophy. Chir Organi Mov. 1990;75: 177-184.[Medline] [Order article via Infotrieve]
  • de Groot IJ, de Witte LP. Physical complaints in ageing persons with spinal muscular atrophy. J Rehabil Med. 2005;37:258-262.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Rodillo E., Marini ML, Heckmatt JZ, Dubowitz V. Scoliosis in spinal muscular atrophy: review of 63 cases. J Child Neurol. 1989;4:118-123.[ISI][Medline] [Order article via Infotrieve]
  • Finkel RS, Glanzman AM, Main M., Bertini E., Mercuri E. The CHOP INTEND: a reliable motor scale for infants with neuromuscular disease. Neuromuscul Disord. 2006;16:9-10. Abstract N.P.403.
  • Main M., Kairon H., Mercuri E., Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol. 2003;7:155-159.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Mercuri E., Messina S., Battini R., et al. Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord. 2006;16:93-98.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Krosschell KJ, Maczulski JA, Crawford TO, et al. A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy. Neuromuscul Disord. 2006;16:417-426. Epub 2006 Jun 5.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Nelson L., Owens H., Hynan LS, et al. The gross motor function measuretrade mark is a valid and sensitive outcome measure for spinal muscular atrophy. Neuromuscul Disord. 2006;16:374-380.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004;114:e548-e553.[Abstract/Free Full Text]
  • Bono R., Inverno M., Botteon G., et al. Prospective study of gross motor development in children with SMA type II. Ital J Neurol Sci. 1995;16:223-230.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Kroksmark AK, Beckung E., Tulinius M. Muscle strength and motor function in children and adolescents with spinal muscular atrophy II and III. Eur J Paediatr Neurol. 2001;5:191-198.[CrossRef][Medline] [Order article via Infotrieve]
  • Merlini L., Mazzone ES, Solari A., Morandi L. Reliability of hand-held dynamometry in spinal muscular atrophy. Muscle Nerve. 2002;26:64-70.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Iannaccone ST Outcome measures for pediatric spinal muscular atrophy. Arch Neurol. 2002;59:1445-1450.[Abstract/Free Full Text]
  • Iannaccone ST, Hynan LS Reliability of 4 outcome measures in pediatric spinal muscular atrophy. Arch Neurol. 2003;60: 1130-1136.[Abstract/Free Full Text]
  • Iannaccone ST, Smith SA, Simard LR Spinal muscular atrophy. Curr Neurol Neurosci Rep. 2004;4:74-80.[Medline] [Order article via Infotrieve]
  • Abresch RT, Carter GT, Jensen MP, Kilmer DD Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease. Am J Hosp Palliat Care. 2002;19:39-48.[Abstract/Free Full Text]
  • Kouwenhoven JW, Van Ommeren PM, Pruijs HE, Castelein RM Spinal decompensation in neuromuscular disease. Spine. 2006; 31:E188-E191.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Evans GA, Drennan JC, Russman BS Functional classification and orthopaedic management of spinal muscular atrophy. J Bone Joint Surg Br. 1981;63B:516-522.[ISI]
  • Tangsrud SE, Carlsen KC, Lund-Petersen I., Carlsen KH Lung function measurements in young children with spinal muscle atrophy; a cross sectional survey on the effect of position and bracing. Arch Dis Child. 2001;84:521-524.[Abstract/Free Full Text]
  • Phillips DP, Roye DP Jr, Farcy JP, et al. Surgical treatment of scoliosis in a spinal muscular atrophy population. Spine. 1990;15:942-945.[ISI][Medline] [Order article via Infotrieve]
  • Bentley G., Haddad F., Bull TM, Seingry D. The treatment of scoliosis in muscular dystrophy using modified Luque and Harrington-Luque instrumentation. J Bone Joint Surg Br. 2001;83:22-28.[CrossRef][Medline] [Order article via Infotrieve]
  • Granata C., Cervellati S., Ballestrazzi A., et al. Spine surgery in spinal muscular atrophy: long-term results. Neuromuscul Disord. 1993;3:207-215.[CrossRef][Medline] [Order article via Infotrieve]
  • Merlini L., Granata C., Bonfiglioli S., et al. Scoliosis in spinal muscular atrophy: natural history and management. Dev Med Child Neurol. 1989;31:501-508.[ISI][Medline] [Order article via Infotrieve]
  • Thacker M., Hui JH, Wong HK, et al. Spinal fusion and instrumentation for paediatric neuromuscular scoliosis: retrospective review. J Orthop Surg (Hong Kong). 2002;10: 144-151.[Medline] [Order article via Infotrieve]
  • Chng S., Wong Y., Hui J., et al. Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. J Paediatr Child Health. 2003;39:673-676.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Miladi LT, Ghanem IB, Draoui MM, et al. Iliosacral screw fixation for pelvic obliquity in neuromuscular scoliosis. A long-term follow-up study. Spine. 1997;22:1722-1729.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Noordeen MH, Lee J., Gibbons CE, Taylor BA, Bentley G. Spinal cord monitoring in operations for neuromuscular scoliosis. J Bone Joint Surg Br. 1997;79:53-57.[CrossRef][Medline] [Order article via Infotrieve]
  • Bridwell KH, Baldus C., Iffrig TM, et al. Process measures and patient/parent evaluation of surgical management of spinal deformities in patients with progressive flaccid neuromuscular scoliosis (Duchenne's muscular dystrophy and spinal muscular atrophy). Spine. 1999;24:1300-1309.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Thompson CE, Larsen LJ Recurrent hip dislocation in intermediate spinal atrophy. J Pediatr Orthop. 1990;10:638-641.[ISI][Medline] [Order article via Infotrieve]
  • Zenios M., Sampath J., Cole C., et al. Operative treatment for hip subluxation in spinal muscular atrophy. J Bone Joint Surg Br. 2005;87:1541-1544.[CrossRef][Medline] [Order article via Infotrieve]
  • Bach JR, Sabharwal S. High pulmonary risk scoliosis surgery: role of noninvasive ventilation and related techniques. J Spinal Disord Tech. 2005;18:527-530.[CrossRef][ISI][Medline] [Order article via Infotrieve]
  • Vasconcelos M., Fineza I., Felix M., Estevao MH Spinal muscular atrophy—noninvasive ventilatory support in pediatrics. Rev Port Pneumol. 2005;11:443-455.[Medline] [Order article via Infotrieve]
  • Bach JR Threats to "informed" advance directives for the severely physically challenged? Arch Phys Med Rehabil. 2003;84:S23-S28.[ISI][Medline] [Order article via Infotrieve]
  • Hardart MK, Burns JP, Truog RD Respiratory support in spinal muscular atrophy type I: a survey of physician practices and attitudes. Pediatrics. 2002;110:e24.[Abstract/Free Full Text]
  • Sakakihara Y. Ethical attitudes of Japanese physicians regarding life-sustaining treatment for children with severe neurological disabilities. Brain Dev. 2000;22:113-117.[CrossRef][ISI][Medline] [Order article via Infotrieve]

Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?


This article has been cited by other articles:


Home page
 J Child NeurolHome page
L. van den Engel-Hoek, B. J. M. de Swart, C. E. Erasmus, and I. J. M. de Groot
Is Head Balance a Major Determinant for Swallowing Problems in Patients With Spinal Muscular Atrophy Type 2?
J Child Neurol, August 1, 2008; 23(8): 919 - 921.
[Abstract] [PDF]

This Article
Right arrow Abstract Freely available
Right arrow Free Full Text (Free PDF) Free
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via ISI Web of Science (1)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Wang, C. H.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Wang, C. H.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?