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

Richard S Finkel¹, Eugenio Mercuri², Oscar H Meyer³, Anita K Simonds⁴, Mary K Schroth⁵, Robert J Graham⁶, Janbernd Kirschner⁷, Susan T Iannaccone⁸, Thomas O Crawford⁹, Simon Woods¹⁰, Francesco Muntoni¹¹, Brunhilde Wirth¹², Jacqueline Montes¹³, Marion Main¹¹, Elena S Mazzone¹⁴, Michael Vitale¹⁵, Brian Snyder¹⁶, Susana Quijano-Roy¹⁷, Enrico Bertini¹⁸, Rebecca Hurst Davis¹⁹, Ying Qian²⁰, Thomas Sejersen²¹; SMA Care group

Affiliations

¹ Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
² Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy. Electronic address: eumercuri@gmail.com.
³ Division of Pulmonology, The Children's Hospital of Philadelphia, Philadelphia, USA.
⁴ NIHR Respiratory Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, London, UK.
⁵ Division of Pediatric Pulmonary, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, American Family Children's Hospital, Madison, Wisconsin, USA.
⁶ Division of Critical Care, Department of Anesthesiology, Perioperative and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, USA.
⁷ Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Germany.
⁸ Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Children's Medical Center, Dallas, USA.
⁹ Department of Neurology, Johns Hopkins University, Baltimore, USA.
¹⁰ Policy Ethics and Life Sciences Research Centre, Newcastle University, Newcastle, UK.
¹¹ Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
¹² Institute of Human Genetics, Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
¹³ Department of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Medical Center, New York, USA.
¹⁴ Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy.
¹⁵ Department of Orthopaedic Surgery, Columbia University Medical Center, New York, USA.
¹⁶ Department of Orthopaedic Surgery, Children's Hospital, Harvard Medical School, Boston, USA.
¹⁷ Assistance Publique des Hôpitaux de Paris (AP-HP), Unit of Neuromuscular Disorders, Department of Pediatric Intensive Care, Neurology and Rehabilitation, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, INSERM U 1179, University of Versailles Saint-Quentin-en-Yvelines, France.
¹⁸ Unit of Neuromuscular & Neurodegenerative Disorders, Dept of Neurosciences & Neurorehabilitation, Bambino Gesù Children's Research Hospital, Rome, Italy.
¹⁹ Intermountain Healthcare, University of Utah, Salt Lake City, USA.
²⁰ SMA Foundation, New York, USA.
²¹ Department of Women's and Children's Health, Paediatric Neurology, Karolinska Institute, Stockholm, Sweden.

PMID: 29305137
DOI: 10.1016/j.nmd.2017.11.004

Free article

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

Richard S Finkel et al. Neuromuscul Disord. 2018 Mar.

Free article

. 2018 Mar;28(3):197-207.

doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23.

Authors

Affiliations

¹ Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
² Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy. Electronic address: eumercuri@gmail.com.
³ Division of Pulmonology, The Children's Hospital of Philadelphia, Philadelphia, USA.
⁴ NIHR Respiratory Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, London, UK.
⁵ Division of Pediatric Pulmonary, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, American Family Children's Hospital, Madison, Wisconsin, USA.
⁶ Division of Critical Care, Department of Anesthesiology, Perioperative and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, USA.
⁷ Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Germany.
⁸ Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Children's Medical Center, Dallas, USA.
⁹ Department of Neurology, Johns Hopkins University, Baltimore, USA.
¹⁰ Policy Ethics and Life Sciences Research Centre, Newcastle University, Newcastle, UK.
¹¹ Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
¹² Institute of Human Genetics, Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.
¹³ Department of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Medical Center, New York, USA.
¹⁴ Paediatric Neurology Unit, Catholic University and Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy.
¹⁵ Department of Orthopaedic Surgery, Columbia University Medical Center, New York, USA.
¹⁶ Department of Orthopaedic Surgery, Children's Hospital, Harvard Medical School, Boston, USA.
¹⁷ Assistance Publique des Hôpitaux de Paris (AP-HP), Unit of Neuromuscular Disorders, Department of Pediatric Intensive Care, Neurology and Rehabilitation, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, INSERM U 1179, University of Versailles Saint-Quentin-en-Yvelines, France.
¹⁸ Unit of Neuromuscular & Neurodegenerative Disorders, Dept of Neurosciences & Neurorehabilitation, Bambino Gesù Children's Research Hospital, Rome, Italy.
¹⁹ Intermountain Healthcare, University of Utah, Salt Lake City, USA.
²⁰ SMA Foundation, New York, USA.
²¹ Department of Women's and Children's Health, Paediatric Neurology, Karolinska Institute, Stockholm, Sweden.

PMID: 29305137
DOI: 10.1016/j.nmd.2017.11.004

Abstract

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.

Keywords: Acute; Care; Nutrition; Pulmonary; Spinal muscular atrophy.

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

Affiliations

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

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Affiliations

Abstract

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LinkOut - more resources

Full Text Sources

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Medical