Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

被引：452

作者：

Finkel, Richard S. ^{[1
]}

Mercuri, Eugenio ^{[2
,3
]}

Meyer, Oscar H. ^{[4
]}

Simonds, Anita K. ^{[5
]}

Schroth, Mary K. ^{[6
]}

Graham, Robert J. ^{[7
]}

Kirschner, Janbernd ^{[8
]}

Iannaccone, Susan T. ^{[9
,10
,11
,12
]}

Crawford, Thomas O. ^{[13
]}

Woods, Simon ^{[14
]}

Muntoni, Francesco ^{[15
,16
]}

Wirth, Brunhilde ^{[17
,18
]}

Montes, Jacqueline ^{[19
]}

Main, Marion

Mazzone, Elena S. ^{[2
,3
,20
,21
]}

Vitale, Michael ^{[22
]}

Snyder, Brian ^{[23
]}

Quijano-Roy, Susana ^{[24
]}

Bertini, Enrico ^{[25
]}

Davis, Rebecca Hurst ^{[26
]}

Qian, Ying ^{[27
]}

Sejersen, Thomas ^{[28
]}

机构：

[1] Univ Cent Florida, Coll Med, Nemours Childrens Hosp, Orlando, FL 32816 USA

[2] Catholic Univ, Paediat Neurol Unit, Rome, Italy

[3] Policlin Gemelli, Ctr Clin Nemo, Rome, Italy

[4] Childrens Hosp Philadelphia, Div Pulnzonol, Philadelphia, PA 19104 USA

[5] Royal Brompton & Harefield NHS Fdn Trust, NIHR Resp Biomed Res Unit, London, England

[6] Univ Wisconsin, Dept Pediat, Amer Family Childrens Hosp, Div Pediat Pulm,Sch Med & Publ Hlth, Madison, WI USA

[7] Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Perioperaf & Pain Med, Div Crit Care, Boston, MA USA

[8] Univ Freiburg, Dept Neuropediat & Muscle Disorders, Med Ctr, Fac Med, Freiburg, Germany

[9] Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Div Pediat Neurol, Dallas, TX 75390 USA

[10] Univ Texas Southwestern Med Ctr Dallas, Dept Neurol, Div Pediat Neurol, Dallas, TX 75390 USA

[11] Univ Texas Southwestern Med Ctr Dallas, Dept Neurotherapeut, Div Pediat Neurol, Dallas, TX 75390 USA

[12] Childrens Med Ctr, Dallas, TX 75235 USA

[13] Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA

[14] Newcastle Univ, Policy Eth & Life Sci Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England

[15] UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England

[16] Great Ormond St Hosp Sick Children, London, England

[17] Univ Cologne, Inst Human Genet, Ctr Mol Med, Cologne, Germany

[18] Univ Cologne, Inst Genet, Cologne, Germany

[19] Columbia Univ, Med Ctr, Dept Rehabil & Regenerat Med & Neurol, New York, NY USA

[20] Catholic Univ, Paediat Neurol Unit, Rome, Italy

[21] Policlin Gemelli, Ctr Clin Nemo, Rome, Italy

[22] Columbia Univ, Dept Orthopaed Surg, Med Ctr, New York, NY USA

[23] Harvard Med Sch, Childrens Hosp, Dept Orthopaed Surg, Boston, MA USA

[24] Univ Versailles St Quentinen En Yvelines, Hop Univ Paris Ile de France Ouest, Hop Raymond Poincare,INSERM,U 1179, AP HP,Unit Neuromuscular Disorders,Dept Pediat In, Versailles, France

[25] Bambino Gesit Childrens Res Hosp, Unit Neuromuscular & Neurodegenerat Disorders, Dept Neurosci & Neurorehabil, Rome, Italy

[26] Univ Utah, Intermt Healthcare, Salt Lake City, UT USA

[27] SMA Fdn, New York, NY USA

[28] Karolinska Inst, Dept Womens & Childrens Hlth, Paediat Neurol, Stockholm, Sweden

来源：

NEUROMUSCULAR DISORDERS | 2018年 / 28卷 / 03期

关键词：

Spinal muscular atrophy; Care; Pulmonary; Acute; Nutrition; KUGELBERG-WELANDER-DISEASE; FATTY-ACID-METABOLISM; LONG-TERM SURVIVAL; NONINVASIVE VENTILATION; CONSENSUS STATEMENT; CARDIAC INVOLVEMENT; DOUBLE-BLIND; TYPES I; CHILDREN; TYPE-1;

D O I：

10.1016/j.nmd.2017.11.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

This is the second half of a two-part document updating the standard of care recommendations for spinal muscular atrophy published in 2007. This part includes updated recommendations on pulmonary management and acute care issues, and topics that have emerged in the last few years such as other organ involvement in the severe forms of spinal muscular atrophy and the role of medications. Ethical issues and the choice of palliative versus supportive care are also addressed. These recommendations are becoming increasingly relevant given recent clinical trials and the prospect that commercially available therapies will likely change the survival and natural history of this disease. (C) 2017 Published by Elsevier B.V.

引用

页码：197 / 207

页数：11

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