. 2023;10(4):639-652.

doi: 10.3233/JND-221672.

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

Sally Dunaway Young¹, Katlyn McGrattan², Emily Johnson³, Marise van der Heul⁴, Tina Duong¹, Merete Bakke⁵, Ulla Werlauff⁶, Amy Pasternak^{7

8}, Camilla Cattaneo⁹, Katie Hoffman¹⁰, Lavinia Fanelli¹¹, Anne Breaks¹², Kristen Allison¹³, Giovanni Baranello¹⁴, Richard Finkel¹⁵, Giorgia Coratti¹⁶, Robert Muni Lofra¹⁷

Affiliations

¹ Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, CA, USA.
² Department of Speech-Language-Hearing Sciences, University of Minnesota, Minneapolis, MN, USA.
³ Department of Speech and Language Therapy, Great Ormond Street Hospital, London, UK.
⁴ Department of Neurology, University Medical Center Utrecht, Brain Center UMC Utrecht, Department of Neurology & Neurosurgery, Spieren voor Spieren Kindercentrum, Utrecht, the Netherlands.
⁵ Department of Odontology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
⁶ National Rehabilitation Centre for Neuromuscular Diseases, Aarhus, Denmark.
⁷ Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁸ Department of Physical Therapyand Occupational Therapy, Boston Children's Hospital, Boston, MA, USA.
⁹ Centro Clinico Nemo, Fondazione Serena Onlus, Milan, Italy.
¹⁰ Ann and Robert H. Lurie Children's Hospital, Chicago, IL, USA.
¹¹ Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
¹² Acute Speech and Language Therapy Service, Evelina London Children's Hospital, London, UK.
¹³ Department of Communication Sciences & Disorders, Northeastern University, Boston, MA, USA.
¹⁴ 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.
¹⁵ Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN, USA.
¹⁶ Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy.
¹⁷ The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

PMID: 37212069
PMCID: PMC10357133
DOI: 10.3233/JND-221672

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

Sally Dunaway Young et al. J Neuromuscul Dis. 2023.

. 2023;10(4):639-652.

doi: 10.3233/JND-221672.

Authors

Affiliations

¹ Department of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, CA, USA.
² Department of Speech-Language-Hearing Sciences, University of Minnesota, Minneapolis, MN, USA.
³ Department of Speech and Language Therapy, Great Ormond Street Hospital, London, UK.
⁴ Department of Neurology, University Medical Center Utrecht, Brain Center UMC Utrecht, Department of Neurology & Neurosurgery, Spieren voor Spieren Kindercentrum, Utrecht, the Netherlands.
⁵ Department of Odontology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
⁶ National Rehabilitation Centre for Neuromuscular Diseases, Aarhus, Denmark.
⁷ Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁸ Department of Physical Therapyand Occupational Therapy, Boston Children's Hospital, Boston, MA, USA.
⁹ Centro Clinico Nemo, Fondazione Serena Onlus, Milan, Italy.
¹⁰ Ann and Robert H. Lurie Children's Hospital, Chicago, IL, USA.
¹¹ Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
¹² Acute Speech and Language Therapy Service, Evelina London Children's Hospital, London, UK.
¹³ Department of Communication Sciences & Disorders, Northeastern University, Boston, MA, USA.
¹⁴ 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.
¹⁵ Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN, USA.
¹⁶ Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy.
¹⁷ The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

PMID: 37212069
PMCID: PMC10357133
DOI: 10.3233/JND-221672

Abstract

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.

Keywords: Spinal muscular atrophy; bulbar function; deglutition; outcome measures; speech; swallowing; voice.

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Conflict of interest statement

S. D. Y. has been a member of advisory boards for Biogen, Roche/Genentech, and Scholar Rock; received personal compensation for activities with Biogen, Cure SMA, and Scholar Rock as a consultant; and received research support from Cure SMA.

K. M. has received grant funding and consulting income from Biogen and AveXis but has no financial interest in these companies. She is founder and scientific director of nuBorn Medical and Science Stand. These relationships have been reviewed and managed by the University of Minnesota in accordance with its conflict of interest policies.

E. J. has no conflict of interest to report.

M. V. has no conflict of interest to report.

T. D. has been an advisory board member of Cure SMA, Biogen, Cytokinetics, Roche, Scholar Rock, Sarepta, Bristol Myers Squibb, Audentes, and Novartis and served as a consultant for Roche, Audentes, and Novartis.

M. B. has received research support from the Danish Parkinson’s Foundation and the Danish Dental Association and serves as a consultant at the Danish Headcenter, rigshospitalet.dk

U. W. has no conflict of interest to report.

A. P. has received research support from the SMA Foundation; serves as a consultant for Biogen; and has served on advisory boards for AveXis, Biogen, Roche, and Scholar Rock.

C. C. has no conflict of interest to report.

K. H. has been an advisory board member for Roche previously.

L. F. has no conflict of interest to report.

A. B. has no conflict of interest to report.

K. A. has no financial or non-financial conflicts of interest related to this work. She receives grant funding from the NIH for research on pediatric dysarthria.

G. B. has been Principal investigator in SMA trials sponsored by AveXis, Roche, Novartis Gene Therapy and Scholar Rock; has received compensation for participation at symposia and scientific advisory boards from Biogen, Roche and AveXis/Novartis Gene Therapy; his Institution has received grant donations for the purchase of equipment from Roche and grant support from Novartis Gene Therapy; he is one of the PIs of the SMA REACH who is supported by Biogen and Roche.

R. F. has served as a consultant to Affinia, AveXis, Biogen, Capricor, Catabasis, Cytokinetics, Dyne, Genentech, Neurogene, n-Lorem Foundation, Novartis, Roche, Sarepta, Scholar Rock on SMA related topics and with no financial interests in these companies; has received SMA clinical trial funding from Biogen/Ionis, AveXis/Novartis, Genentech/Roche, Cytokinetics, and Scholar Rock; research funding from Biogen, Cure SMA, Genentech, SMA Foundation, Muscular Dystrophy Association, National Institutes of Health; has served on data safety monitoring boards for the AveXis AVXS-101 START study, Roche MOONFISH study, and Ionis Angelman HALOS study; and has received royalty payments from Children’s Hospital of Philadelphia for licensing fees obtained for use of the CHOP INTEND motor function scale. Dr. Finkel is an Editorial Board Member of this journal, but was not involved in the peer-review process nor had access to any information regarding its peer-review.

G. C. reports personal fees from BIOGEN S.R.L. ITALIA, ROCHE, GENESIS PHARMA, AVEXIS, Biologix, outside the submitted work.

R. M. L. has research funding from Biogen and Roche; has been member of advisory board for AveXis (Novartis) and has served as a consultant for Biogen, Roche and Novartis.

Figures

**Fig. 1**
Flowchart of modified Delphi methodology and survey round details.

**Fig. 2**
Five key domains for evaluation of bulbar function in SMA. Circles include the number of items from final consensus-derived item bank per domain.

See this image and copyright information in PMC

References

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

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

Authors

Affiliations

Abstract

Conflict of interest statement

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