{
  "abstract": "Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from progressive degeneration and loss of motor neurones in the spinal cord. Current standards of care guidelines focus on a multidisciplinary approach and include recommendations for nine different aspects of care. Although intended for use in all patients with SMA, the guidelines are focused on paediatric best practices and evidence regarding care provision in adults with SMA remains limited. This cross-sectional analysis of a longitudinal registry cohort of adults with SMA study aimed to evaluate the clinical features and corresponding care provision to assess alignment with current care guidelines. Data from 426 patients with genetically confirmed SMA were analysed, including information on respiratory function, bulbar involvement, musculoskeletal complications and daily living support. Results demonstrated a high prevalence of respiratory impairment, bulbar dysfunction, contractures and significant limitations in activities of daily living. However, the care provision observed in this adult cohort did not consistently reflect the recommended standards outlined in the established SMA standards of care recommendations. In particular, gaps were noted in access to respiratory support, physiotherapy and nutritional management. These findings suggest that the application of current standards of care to the adult population is inconsistent. There is a need for improved translation of care provision into adult services to ensure comprehensive and equitable management of SMA across the lifespan.",
  "authors": [
    {
      "affiliations": [
        "The John Walton Muscular Dystrophy Research Centre, Newcastle Upon Tyne Hospitals NHS Foundation Trust, The Newcastle University, Newcastle upon Tyne, UK"
      ],
      "name": "Robert Muni-Lofra"
    },
    {
      "affiliations": [
        "The John Walton Muscular Dystrophy Research Centre, Newcastle Upon Tyne Hospitals NHS Foundation Trust, The Newcastle University, Newcastle upon Tyne, UK"
      ],
      "name": "Holly Borland"
    },
    {
      "affiliations": [
        "Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK"
      ],
      "name": "Katie Nevin"
    },
    {
      "affiliations": [
        "Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Salford, UK"
      ],
      "name": "Anna Rutherford"
    },
    {
      "affiliations": [
        "Department of Neuromuscular Diseases, University College London, London, UK"
      ],
      "name": "Alex Dungavel"
    },
    {
      "affiliations": [
        "The John Walton Muscular Dystrophy Research Centre, Newcastle Upon Tyne Hospitals NHS Foundation Trust, The Newcastle University, Newcastle upon Tyne, UK"
      ],
      "name": "Jassi Michell-Sodhi"
    },
    {
      "affiliations": [
        "Atkinson Morley Neurosciences Centre, Department of Neurology, St George’s University Hospitals NHS Foundation Trust, London, UK"
      ],
      "name": "Sherryl Chatfield"
    },
    {
      "affiliations": [
        "Muscle and Nerve Centre, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK"
      ],
      "name": "Katie Pape"
    },
    {
      "affiliations": [
        "Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"
      ],
      "name": "Andy Rose"
    },
    {
      "affiliations": [
        "Department of Neurology, Nottingham University Hospitals NHS Trust, Nottingham, UK"
      ],
      "name": "Paula Fenty"
    },
    {
      "affiliations": [
        "NHS North Bristol NHS Trust, Southmead Hospital, Bristol, UK"
      ],
      "name": "Gemma Martin"
    },
    {
      "affiliations": [
        "University Hospital Southampton NHS Foundation Trust, Southampton, UK"
      ],
      "name": "Sunitha Narayan"
    },
    {
      "affiliations": [
        "Department of Clinical Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK"
      ],
      "name": "Emilia Bartram"
    },
    {
      "affiliations": [
        "Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, UK"
      ],
      "name": "Nicholas Emery"
    },
    {
      "affiliations": [
        "Department of Laboratory Medicine, Queen Elizabeth University Hospital, Glasgow, UK"
      ],
      "name": "Marina Di Marco"
    },
    {
      "affiliations": [
        "Department of Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK"
      ],
      "name": "Emma Manchester"
    },
    {
      "affiliations": [
        "Walton Centre NHS Foundation Trust, Liverpool, UK"
      ],
      "name": "Nicola White"
    },
    {
      "affiliations": [
        "South West Wales Adult Neuromuscular Service, NHS Wales, Morriston Hospital, Swansea, UK"
      ],
      "name": "Heledd Tomos"
    },
    {
      "affiliations": [
        "Llandough Centre for Specialist Spinal and Neurological Rehabilitation (TLCSSNR), Cardiff and Vale NHS Trust, University Hospital Llandough, Cardiff, UK"
      ],
      "name": "Elizabeth Davies"
    },
    {
      "affiliations": [
        "Department of Neurology, King’s College Hospital, London, UK"
      ],
      "name": "Francesca Morris"
    },
    {
      "affiliations": [
        "The John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK"
      ],
      "name": "Aleks Carver"
    },
    {
      "affiliations": [
        "The John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK"
      ],
      "name": "Elena Karkkainen"
    },
    {
      "affiliations": [
        "The John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK"
      ],
      "name": "Jess Page"
    },
    {
      "affiliations": [
        "Department of Neurology, King’s College Hospital, London, UK"
      ],
      "name": "Fiona Norwood"
    },
    {
      "affiliations": [
        "Llandough Centre for Specialist Spinal and Neurological Rehabilitation (TLCSSNR), Cardiff and Vale NHS Trust, University Hospital Llandough, Cardiff, UK"
      ],
      "name": "Hayley Davis"
    },
    {
      "affiliations": [
        "South West Wales Adult Neuromuscular Service, Morriston Hospital, NHS Wales, Swansea, UK"
      ],
      "name": "Richard Jon Walters"
    },
    {
      "affiliations": [
        "The Walton Centre NHS Foundation Trust, Liverpool, UK"
      ],
      "name": "Charlotte F Dougan"
    },
    {
      "affiliations": [
        "Department of Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK"
      ],
      "name": "Priya Devi Shanmugarajah"
    },
    {
      "affiliations": [
        "Department of Laboratory Medicine, Queen Elizabeth University Hospital, Glasgow, UK"
      ],
      "name": "Maria Elena Farrugia"
    },
    {
      "affiliations": [
        "Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, UK"
      ],
      "name": "Tracey A Willis"
    },
    {
      "affiliations": [
        "Department of Clinical Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK"
      ],
      "name": "Stefen Brady"
    },
    {
      "affiliations": [
        "Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, UK"
      ],
      "name": "Annamaria Kiss-Csenki"
    },
    {
      "affiliations": [
        "NHS North Bristol NHS Trust, Southmead Hospital, Bristol, UK"
      ],
      "name": "Andria Merrison"
    },
    {
      "affiliations": [
        "Department of Neurology, Nottingham University Hospitals NHS Trust, Nottingham, UK"
      ],
      "name": "Saam Sedehizadeh"
    },
    {
      "affiliations": [
        "Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"
      ],
      "name": "Charlotte Brierley"
    },
    {
      "affiliations": [
        "Muscle and Nerve Centre, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK"
      ],
      "name": "Nick P Davies"
    },
    {
      "affiliations": [
        "Atkinson Morley Neurosciences Centre, Department of Neurology, St George’s University Hospitals NHS Foundation Trust, London, UK"
      ],
      "name": "Clare M Galtrey"
    },
    {
      "affiliations": [
        "Department of Neuromuscular Diseases, University College London, London, UK"
      ],
      "name": "Matt Parton"
    },
    {
      "affiliations": [
        "Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Salford, UK"
      ],
      "name": "James B Lilleker"
    },
    {
      "affiliations": [
        "The John Walton Muscular Dystrophy Research Centre, Newcastle Upon Tyne Hospitals NHS Foundation Trust, The Newcastle University, Newcastle upon Tyne, UK",
        "School of Medicine and Population Health, The University of Sheffield, Sheffield, UK"
      ],
      "name": "Channa Hewamadduma"
    },
    {
      "affiliations": [
        "The John Walton Muscular Dystrophy Research Centre, Newcastle Upon Tyne Hospitals NHS Foundation Trust, The Newcastle University, Newcastle upon Tyne, UK"
      ],
      "name": "Chiara Marini Bettolo"
    }
  ],
  "title": "Access to care for adults living with spinal muscular atrophy in the UK",
  "uid": "3961ecdf-539b-5521-a84a-9c9e144dba9b"
}