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

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.

DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing

“…For this reason, speech-language pathology will play an essential role in interprofessional research teams in the future. The work of Dunaway Young and colleagues [ 15 ], with a large pool of items, provides a good basis to assess bulbar symptoms in SMA as broadly as possible in different age groups. This could lead to different instruments in the future that capture these different constructs individually.…”

“…The DySMA is well-suited as a basis for developing further tools for various age groups. For example, as suggested by Dunaway Young and colleagues for the age group 2 to 12 years [ 15 ].…”

“…A recently published international consensus on bulbar function in SMA [ 15 ] was an essential step toward interprofessional applicable assessment development and led to an item bank for further development. It has yet to be published which items are appropriate, especially for children younger than two years.…”

Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes

“…Future studies of a larger sample may provide more insight on the ability of these PROs to measure a range of bulbar function, and a supplementary review of other currently available PROs may enable the development of a better disease-specific measure of bulbar function, which may be more sensitive to the effects of disease-modifying treatments for SMA. Multidisciplinary efforts are currently underway including collaboration of speech language pathologists, physical/occupational therapists, neurologists, and dentists with expertise in SMA to identify and refine assessment tools for relevance and evaluation of bulbar function in SMA [60]. The ideal tool should be standardized and aim to determine the presence, severity, and progression of dysarthria and dysphagia, and help to identify rehabilitation and management interventions, as well as quantify treatment effects [24,61].…”