Development of an International SMA Bulbar Assessment for Inter-professional Administration.

Autor:	Dunaway Young S; Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, CA, USA., McGrattan K; Department of Speech-Language-Hearing Sciences, University of Minnesota, Minneapolis, MN, USA., Johnson E; Department of Speech and Language Therapy, Great Ormond Street Hospital, London, UK., van der Heul M; Department of Neurology, University Medical Center Utrecht, Brain Center UMC Utrecht, Department of Neurology & Neurosurgery, Spieren voor Spieren Kindercentrum, Utrecht, the Netherlands., Duong T; Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, CA, USA., Bakke M; Department of Odontology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Werlauff U; National Rehabilitation Centre for Neuromuscular Diseases, Aarhus, Denmark., Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Physical Therapyand Occupational Therapy, Boston Children's Hospital, Boston, MA, USA., Cattaneo C; Centro Clinico Nemo, Fondazione Serena Onlus, Milan, Italy., Hoffman K; Ann and Robert H. Lurie Children's Hospital, Chicago, IL, USA., Fanelli L; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Breaks A; Acute Speech and Language Therapy Service, Evelina London Children's Hospital, London, UK., Allison K; Department of Communication Sciences & Disorders, Northeastern University, Boston, MA, USA., Baranello G; Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Foundation Trust, London., Finkel R; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN, USA., Coratti G; Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy., Lofra RM; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Jazyk:	angličtina
Zdroj:	Journal of neuromuscular diseases [J Neuromuscul Dis] 2023; Vol. 10 (4), pp. 639-652.
DOI:	10.3233/JND-221672
Abstrakt:	Background: Progressive weakness can affect bulbar muscles in individuals with moderate to severe forms of spinal muscular atrophy (SMA). The paucity of standardized, valid bulbar assessments capturing clinically significant deficits in SMA impedes the ability to monitor function, facilitate intervention, or detect treatment response. Objective: To fill this void, an international multidisciplinary team gathered to develop an agreed upon consensus-derived assessment of bulbar function in SMA for inter-professional administration to enhance our ability to monitor disease progression, support clinical management, and evaluate treatment effects. Methods: Fifty-six international clinicians experienced in SMA were invited and engaged using the Delphi method over multiple rounds of web-based surveys to establish consensus. Results: Serial virtual meetings occurred with 42 clinicians (21 speech and language therapists, 11 physical therapists, 5 neurologists, 4 occupational therapists, and 1 dentist). Seventy-two validated assessments of bulbar function were identified for potential relevance to individuals with SMA (32 accessible objective, 11 inaccessible objective, 29 patient-reported outcomes). Delphi survey rounds (n = 11, 15, 15) achieved consensus on individual items with relevance and wording discussed. Key aspects of bulbar function identified included: oral intake status, oral facial structure and motor strength, swallowing physiology, voice & speech, and fatigability. Conclusions: Multidisciplinary clinicians with expertise in bulbar function and SMA used Delphi methodology to reach consensus on assessments/items considered relevant for SMA across all age groups. Future steps include piloting the new scale moving towards validation/reliability. This work supports the advancement of assessing bulbar function in children and adults with SMA by a variety of professionals.
Databáze:	MEDLINE
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