Penelope J Ireland1, Ravi Savarirayan2, Tash Pocovi3, Tracy Tate4, Marie Coussens5, Louise Tofts6,7, Craig Munns4,7,8, Verity Pacey3,8. 1. Queensland Paediatric Rehabilitation Service, Queensland Children's Hospital, 501 Stanley Street, South Brisbane, QLD, 4101, Australia. Penny.ireland@health.qld.gov.au. 2. Department of Paediatrics, The University of Melbourne, Flemington Road, Parkville VIC, 3052, Australia. 3. Department of Health Professions, Macquarie University, Ground Floor, 75 Talavera Rd, Sydney, NSW, 2109, Australia. 4. The Children's Hospital At Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia. 5. Department of Rehabilitation Sciences and Physiotherapy, Ghent University, Corneel Heymanslaan 10, 9000, Ghent, Belgium. 6. Kids Rehab, The Children's Hospital, Locked Bag 4001, Westmead, NSW, 2145, Australia. 7. Faculty of Medicine and Health Sciences, Macquarie University, Ground Floor, 75 Talavera Road, Sydney, NSW, 2109, Australia. 8. Discipline of Child and Adolescent Health, University of Sydney, The Children's Hospital At Westmead, Locked Bag 4001, Westmead, NSW, Australia.
Abstract
BACKGROUND: Skeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance. While current tools quantify functional mobility performance, they have not been standardly used in this population group and do not capture patient-reported symptoms such as pain or fatigue. This study evaluated a new tool, the Screening Tool for Everyday Mobility and Symptoms (STEMS), designed to accurately and objectively assess functional mobility and associated symptomology for individuals with skeletal dysplasia. METHODS: Individuals aged 5-75 years with a skeletal dysplasia completed the STEMS, the Functional Mobility Scale (FMS) and Six Minute Walk Test (6MWT). The correlation among the STEMS, use of mobility aides, FMS and 6MWT normalised for leg length was calculated. One-way analysis of variance compared the STEMS symptomatology to normalised 6MWT distance. RESULTS: One hundred and fifty individuals with skeletal dysplasia (76 achondroplasia, 42 osteogenesis imperfecta, 32 other; 74 < 18 years, 76 ≥ 18 years) participated. Almost two thirds of the group reported pain and/or fatigue when mobilising at home, at work or school and within the community, but only twenty percent recorded use of a mobility device. The STEMS setting category demonstrated highly significant correlations with the corresponding FMS category (r = - 0.983 to - 0.0994, all p < 0.001), and a low significant correlation with the normalised 6MWT distance (r = - 0.323 to - 0.394, all p < 0.001). A decreased normalised 6MWT distance was recorded for individuals who reported symptoms of pain and/or fatigue when mobilising at home or at work/school (all p ≤ 0.004). Those who reported pain only when mobilising in the community had a normal 6MWT distance (p = 0.43-0.46). CONCLUSIONS: The Screening Tool for Everyday Mobility and Symptoms (STEMS) is a useful new tool to identify and record mobility aide use and associated self-reported symptoms across three environmental settings for adults and children with skeletal dysplasia. The STEMS may assist clinicians to monitor individuals for changes in functional mobility and symptoms over time, identify individuals who are functioning poorly compared to peers and need further assessment, and to measure effectiveness of treatment interventions in both clinical and research settings.
BACKGROUND:Skeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance. While current tools quantify functional mobility performance, they have not been standardly used in this population group and do not capture patient-reported symptoms such as pain or fatigue. This study evaluated a new tool, the Screening Tool for Everyday Mobility and Symptoms (STEMS), designed to accurately and objectively assess functional mobility and associated symptomology for individuals with skeletal dysplasia. METHODS: Individuals aged 5-75 years with a skeletal dysplasia completed the STEMS, the Functional Mobility Scale (FMS) and Six Minute Walk Test (6MWT). The correlation among the STEMS, use of mobility aides, FMS and 6MWT normalised for leg length was calculated. One-way analysis of variance compared the STEMS symptomatology to normalised 6MWT distance. RESULTS: One hundred and fifty individuals with skeletal dysplasia (76 achondroplasia, 42 osteogenesis imperfecta, 32 other; 74 < 18 years, 76 ≥ 18 years) participated. Almost two thirds of the group reported pain and/or fatigue when mobilising at home, at work or school and within the community, but only twenty percent recorded use of a mobility device. The STEMS setting category demonstrated highly significant correlations with the corresponding FMS category (r = - 0.983 to - 0.0994, all p < 0.001), and a low significant correlation with the normalised 6MWT distance (r = - 0.323 to - 0.394, all p < 0.001). A decreased normalised 6MWT distance was recorded for individuals who reported symptoms of pain and/or fatigue when mobilising at home or at work/school (all p ≤ 0.004). Those who reported pain only when mobilising in the community had a normal 6MWT distance (p = 0.43-0.46). CONCLUSIONS: The Screening Tool for Everyday Mobility and Symptoms (STEMS) is a useful new tool to identify and record mobility aide use and associated self-reported symptoms across three environmental settings for adults and children with skeletal dysplasia. The STEMS may assist clinicians to monitor individuals for changes in functional mobility and symptoms over time, identify individuals who are functioning poorly compared to peers and need further assessment, and to measure effectiveness of treatment interventions in both clinical and research settings.
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