The impact of losing the ability to sit to stand on social participation in people with dysferlinopathy: Clinical Outcome study for dysferlinopathy

Topic:

Clinical Management

Poster Number: P221

Author(s):

Laura Rufibach, PhD, Jain Foundation, Seattle, WA, Emma Robinson, PT, MSc, The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS, Meredith James, PT, PhD, The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS, Heather Hilsden, BA, The John Walton Muscular Dystrophy Research Centre, Newcastle University and New, Whitney Roper, DPT, Washington University School of Medicine, St Louis, MO, Scott Holsten, PT, ATP, Carolinas Healthcare System, Charlotte, NC, Linda Lowes, PT, PhD, Nationwide Children's Hospital Columbus , OH, Constance de Monts, PT, DPT, Department of Neurology and Neurological Sciences, Stanford University, Cara Yochai, PT, DPT, Columbia University Irving Medical Centre, New York, NY, Aitor Pardo, PT, Hospital Universitario Donostia, San Sebastian, Spain, Yu Ogasawara, PT, National Centre Hospital of Neurology and Psychiatry Tokyo, Japan, Karen Rudolph, PT, Copenhagen Neuromuscular Centre, Rigshopitalet, Denmark, Judith Weber, PT, Clinica Davila Santiago, Chile, Elena Montiel Morillo, PT, Hospital de la Santa Creu iSant Pau Barcelona, Spain, Simone Biurnbaum, PT, PhD, Institute of Myology Paris, France, Juan Rojas, PT, Hospital Virgen del Rocio Seville, Spain, Mi Young Kim, PT, Pusan National University Yangsan, South Korea, Paul Nitollama, PT, Hospital University of California, Irvine, CA, Sara Mastellaro, PT, University of Padova, Padova, Italy, Anna Mayhew, PT, PhD, The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS, Volker Straub, PhD, Newcastle University, JWMDRC

Individuals with limb girdle muscular dystrophy (LGMD) R2/2B (dysferlinopathy) lose the ability to independently move into standing from a seated position (STS) prior to loss of independent ambulation. Clinically, individuals report this impacts their ability to socialise or to work, however there are no studies evaluating this. The aim of this study was to examine the impact of loss of STS on social participation/employment in individuals with dysferlinopathy. We examined the baseline visit data of 205 participants in the Clinical Outcome study for Dysferlinopathy, a two-year, 16-site natural history study.

Data analysed included scores of STS from the North Star assessment for limb-girdle type muscular dystrophies (NSAD), responses to the participant-reported Activity limitations for patients with upper and/or lower limb impairments (ACTIVLIM) and participant-reported responses to the Quality of Life in Genetic Neuromuscular Disease Questionnaire (QOLgNMD). Chi square test for association (χ2) were used to test the relationship between clinician-reported ability to STS and participant-reported ability to complete activities requiring STS.

Statistically significant associations were found between the following variables: clinician-reported ability to STS (NSAD) and patient-reported ability to get on/off a toilet, in/out of a car (ACTIVLIM), how often getting to the toilet restricted activities outside the home and how often participants felt able to leave the house alone (QOLgNMD). Loss of ability to STS was associated with reduced social participation and employment, which can be detected by deterioration on NSAD or ACTIVLIM STS items. The use of equipment or support from others is helpful in managing difficulties with STS, which enables people with dysferlinopathy to remain socially active or employed. Clinicians should proactively instigate early referrals to equipment and wheelchair providers after any deterioration on NSAD or ACTIVLIM STS scores, regardless of ambulatory status.