Evidence map›Paper›PMID 38932995›Full record

ArticleNeurology. Clinical practice2024

Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.

Federica Trucco, Deborah Ridout, Harriet Weststrate, Mariacristina Scoto, Annemarie Rohwer, Giorgia Coratti, Marion L Main, Anna G Mayhew, Jacqueline Montes, Roberto De Sanctis and 27 more

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In one paragraph

Article in Neurology. Clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Observational
  4. Review
  5. Article
  6. Observational
  7. Review
  8. Review
  9. Review
  10. Home mechanical ventilation in children: evolving indications in an era of new treatment options.European respiratory review : an official journal of the European Respiratory Society · 2024
    Review
  11. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

37 authors.

Federica TruccoDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-1147-0126
Deborah RidoutDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0003-1336-6450
Harriet WeststrateDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0001-7575-4323
Mariacristina ScotoDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-7320-6443
Annemarie RohwerDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Giorgia CorattiDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0001-6666-5628
Marion L MainDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Anna G MayhewDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0001-7085-9011
Jacqueline MontesDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-7357-0819
Roberto De SanctisDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Marika PaneDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Maria Carmela PeraDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0001-6777-1721
Valeria A SansoneDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Emilio AlbamonteDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Adele D'AmicoDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0003-2438-2624
Claudio BrunoDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-3426-2901
Sonia S MessinaDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Anne-Marie ChildsDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0001-7378-4369
Tracey WillisDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0003-0088-5307
Min T OngDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0003-0482-0906
Laurent ServaisDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0001-9270-4061
Anirban MajumdarDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0001-8521-1138
Imelda HughesDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-4321-6130
Chiara Marini-BettoloDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0003-3795-6017
Deepak ParasuramanDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Vasantha L GowdaDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-8367-5489
Giovanni BaranelloDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0003-4871-6692
Enrico S BertiniDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0001-9276-4590
Darryl C De VivoDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Basil T DarrasDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-1536-8145
John W DayDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-0086-9529
Oscar MayerDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0003-3067-1545
Zarazuela Zolkipli-CunninghamDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-0743-8879
Richard S FinkelDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-9351-7054
Eugenio MercuriDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Francesco MuntoniDubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.ORCID https://orcid.org/0000-0002-9102-5232
for iSMAc

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Nusinersen has shown significant functional motor benefit in the milder types of spinal muscular atrophy (SMA). Less is known on the respiratory outcomes in patients with nusinersen-treated SMA. The aim of this study was to describe changes in respiratory function in pediatric patients with SMA type 2 and 3 on regular treatment with nusinersen within the iSMAc international cohort and to compare their trajectory with the natural history (NH) data published by the consortium in 2020. Methods: This is a 5-year retrospective observational study of pediatric SMA type 2 and nonambulant type 3 (age ≤18 years) treated with nusinersen. The primary objective was to compare the slopes of decline in forced vital capacity % predicted (FVC% pred.), FVC, and age when FVC dropped below 60% between the treated patients and a control group from the natural history cohort. Data on peak cough flow and the use of noninvasive ventilation (NIV) and cough assist were collected. Results: Data were available for 69 treated patients, 53 were SMA type 2 and 16 type 3. The mean (SD) age at first injection was 8.5 (3.2) and 9.7 (3.7) years, respectively. The median (interquartile range) treatment duration was 1 (0.7; 1.9) and 1.2 (0.9; 1.9) years, respectively. At the time of the first nusinersen injection, 24 of 52 (46%) patients with SMA type 2 and 2 of 16 (13%) patients with SMA type 3 were on NIV. Forty-three of 53 (81%) and 4 of 16 (25%) patients used cough device. FVC% pred. in treated patients with SMA type 2 declined annually by 2.3% vs 3.9% in NH ( Discussion: This study included the largest real-world cohort of pediatric patients with milder SMA types. The results suggest a positive role of nusinersen in delaying the respiratory decline in patients treated longer than 1 year when compared with natural history. Larger cohorts and longer observation are planned. Classification of Evidence: This study provided Class III evidence that nusinersen slows progression for patients with SMA types 2 and 3 compared with a natural history cohort.

Identifiers

PMID38932995
PMCPMC11196214

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