The diagnosis of severe type 1 spinal muscular atrophy (SMA) should be confirmed by an expert in paediatric neuromuscular disease. Invasive investigations are not usually necessary as the diagnosis is confirmed with a DNA blood test. Care thereafter should be delivered close to home by a multidisciplinary team with a clear point of access during times of crisis. The aim of care is to keep the infant as well as possible with the best possible quality of life. There are many forms of active respiratory management which can help maintain the well-being of infants with severe type 1 SMA. These include approaches to reduce the risk of infection and aspiration and appropriate techniques of airway and secretion clearance. The use of non-invasive ventilation may be helpful for some, usually less-severely affected infants, particularly to assist extubation. Long-term invasive ventilation is not recommended. Active assessment of feeding and nutrition is vital, and most babies can be managed well with nasogastric feeds. Gastrostomy may be considered for some infants, but the benefits should be carefully weighed against the risks. It is vital to share information and formulate an anticipatory care plan with the infant's parents from the point of diagnosis.
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Participants Ms Hilary Adams, information and Education Officer, JTSMA; Dr Lilias Alison, Parent, Consultant Community Paediatrician, Sheffield; Ms Annie Aloysius, Speech and Language Therapist, London; Dr Paul Baines, Consultant in Paediatric Intensive Care, Liverpool; Professor Kate Bushby, Professor of Neuromuscular Genetics, Newcastle upon Tyne; Dr Michelle Chatwin, Clinical Specialist Physiotherapist, London; Dr Anne Marie Childs, Consultant Paediatric Neurologist, Leeds; Dr Lisa Cuddeford, Consultant in Paediatric Palliative Care, Birmingham; Dr Mark Dalzell, Consultant Paediatric Gastroenterologist, Liverpool; Ms Trak Davies, Paediatric Dietician, London; Dr Andrew Durward, Consultant in Paediatric Intensive Care, London; Mr Alistair Edwards, Parent representative, JTSMA; Mrs Caron Edwards, Parent representative, JTSMA; Mr Richard Green, Chief Executive, JTSMA; Ms Claire Holdcroft, Community Outreach Worker, JTSMA; Dr Imelda Hughes, Consultant Paediatric Neurologist, Manchester; Dr Max Huxham, Parent, Chair of Trustees, JTSMA; Ms Meredith James, Physiotherapist, Oswestry; Ms Marion Main, Senior Physiotherapist, London; Ms Sue Manning, Muscular Dystrophy Campaign Care Advisor, Leeds; Dr Adnan Manzur, Consultant Paediatrician, London; Dr Anna Mayhew, SMARTnet Co-ordinator, London; Dr Renee McCulloch, Consultant in Paediatric Palliative Care, London; Ms Maggie McHale, Community Outreach Worker, JTSMA; Mrs Rachel Moralee, Parent representative, JTSMA; Mr Philip Moralee, Parent representative, JTSMA; Professor Francesco Muntoni, Professor of Paediatric Neurology, London; Dr Ros Quinlivan, Consultant Paediatrician, Oswestry; Mr Christopher Reed, Head of Care, Acorns children's hospice, Birmingham; Dr Fiona Reynolds, Consultant in Paediatric Intensive Care, Birmingham; Dr Helen Roper, Consultant Paediatrician, Birmingham; Ms Sarah Savage, Muscular Dystrophy Campaign Care Advisor, Liverpool; Dr Thomas Sejersen, Associate Professor in Paediatrics and Habilitation, Stockholm; Dr Andrew Selby, Consultant in Paediatric Intensive Care, Liverpool; Dr Anita Simonds, Consultant in Respiratory Medicine, London; Dr Stefan Spinty, Consultant Paediatric Neurologist, Liverpool; Dr Angela Thompson, Palliative Care Paediatrician, Coventry and Warwickshire; Dr Shane Tibby, Consultant in Paediatric intensive Care, London; Ms Amanda Venables, Clinical Specialist Physiotherapist, Liverpool; Dr Simon Woods, Ethicist, Newcastle upon Tyne.
Funding The Jennifer Trust for SMA funded the Workshop. JTSMA, Elta House, Birmingham Road, Stratford-upon-Avon, CV37 0AQ, UK.
Provenance and peer review Not commissioned; externally peer reviewed.