Evaluation of functionality-mobility in patients with skeletal dysplasias. Application of the STEMS tool ("everyday symptoms and mobility screening tool for skeletal dysplasias").
fatigue
functional mobility
mobility assistive device
pain
skeletal dysplasia
symptoms
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
12 Jan 2024
12 Jan 2024
Historique:
revised:
14
12
2023
received:
03
11
2023
accepted:
30
12
2023
medline:
12
1
2024
pubmed:
12
1
2024
entrez:
12
1
2024
Statut:
aheadofprint
Résumé
Individuals with differing forms of skeletal dysplasias (SD) frequently report impaired mobility and symptoms. With the objetive to evaluate mobility and associated symptoms in people with SD at an Argentinian pediatric hospital, using an Argentinian version of the Screening Tool for Everyday Mobility and Symptoms (STEMS), a simple questionnaire that allows clinicians to quickly identify the presence of symptoms associated with mobility in people with SD, while considering different environmental settings and the use of assistive devices, an analytical study of a consecutive sample of patients older than 5 years with SD and their affected relatives was carried out.Diagnosis, comorbidities, socioenvironmental, therapeutic, auxological and mobility variables were recorded. The presence and intensity of symptoms was noted through use of both the STEMS and validated scales. Descriptive, association and correlation analyzes were performed. One hundred and nineteen individuals with SD were enrolled in the study and divided into groups: Osteogenesis Imperfecta (OI, n = 55), Achondroplasia (ACH, n = 36) and Other SD resulting in disproportionate short stature (n = 28). Mobility assistive devices were almost exclusively used by individuals with OI. They were more frequently used by individuals with overweight and obesity, more severe form of the disease and in the outdoor settings. Two thirds (66.4%) of the individuals assessed in this study reported pain, 87.4% reported fatigue, and 58.8% reported both pain and fatigue. The intensity of symptoms was similar between groups and correlated with age and auxological variables. The STEMS was clear, easy and quick to use for identifying presence of pain and fatigue in this population group. The STEMS proved to be a simple and useful tool for evaluating functional mobility and associated symptoms in our population of individuals with SD.
Identifiants
pubmed: 38214061
doi: 10.1002/ajmg.a.63538
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 Wiley Periodicals LLC.
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