Consensus statement for standard of care in spinal muscular atrophy.
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.
Wang
Ching H
CH
Department of Neurology and Neurological Sciences, Stanford University Medical Center, Stanford, California 94305-5235, USA. wangch@stanford.edu
Finkel
Richard S
RS
Bertini
Enrico S
ES
Schroth
Mary
M
Simonds
Anita
A
Wong
Brenda
B
Aloysius
Annie
A
Morrison
Leslie
L
Main
Marion
M
Crawford
Thomas O
TO
Trela
Anthony
A
D002648:Child; D015362:Child Nutrition Disorders / Q000209:etiology / Q000503:physiopathology / Q000517:prevention & control; D032921:Consensus; D003680:Deglutition Disorders / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D003937:Diagnosis, Differential; D020233:Gait Disorders, Neurologic / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D005767:Gastrointestinal Diseases / Q000209:etiology / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*; D011183:Postoperative Complications / Q000209:etiology / Q000517:prevention & control; D012131:Respiratory Insufficiency / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D012133:Respiratory Paralysis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy*