Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

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.

Quality of life, physical functioning, and psychosocial function among patients with achondroplasia:a targeted literature review

“…Future research is warranted to better characterize the functional and psychosocial impact of disproportionate short stature as well as to prospectively assess the effects of limb lengthening and other relevant treatments in this patient population. This would require the development and application of validated condition-specific frameworks and tools for measuring meaningful impact in these individuals while taking into account the multifaceted challenges that they face [61,[68][69][70]. Having a clearer understanding of the impact of disproportionate short stature in patients with ACH will assist individuals, clinicians, families, and society as a whole to identify and implement more efficient and effective strategies, including both medical treatment options and environmental adaptations, to promote greater independence, resilience, and enhancements in quality of life.…”

Australian guidelines for the management of children with achondroplasia

“…Mobility devices, such as power wheelchairs and motorised scooters, may assist in high school years to conserve energy and support active participation with peers. A Screening Tool for Everyday Mobility and Symptoms (STEMS) has been devised which measures and records mobility aide use, pain and fatigue in achondroplasia 38 …”

“…A Screening Tool for Everyday Mobility and Symptoms (STEMS) has been devised which measures and records mobility aide use, pain and fatigue in achondroplasia. 38 Children with achondroplasia may have difficulty with selfcare skills due to rhizomelic shortening. These include challenges in reaching to clean the perineal area, brush/wash hair, fasten zippers and don/doff footwear.…”

People living with OI raise their VOICE. Community-based exploration with Photovoice online of daily mobility challenges and possible solutions for Adults living with Osteogenesis Imperfecta (OI) in the western world: A pilot-study

“…The limited mobility leads to challenges with climbing steps, overhead movements (cars, high cupboards, grocery shopping, …), opening heavy doors, walking long pathways and training in gyms per se. These mobility challenges can be grouped by different basic movements (lunge, squat, overhead movements, pushing forward, pushing backwards), contributing to the current discussion on physiological assessments and exercise therapy [3,7,12]. However, a novel way to assess this DMC on the fundamental movement patterns would be a screening method with wearables which can be used during the day [9].…”