Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™.

BACKGROUND: Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy and physical therapy, as well as specific daily care practices. In addition, they have an increased incidence of fractures, which require immobilization and cause severe discomfort and short-term disability. This study evaluated the health-related quality of life of children and adolescents with OI in two reference centers for OI treatment in southern Brazil. METHODS: In this prospective cross-sectional study, the Pediatric Quality of Life Inventory (PedsQLTM) was applied in two university-affiliated reference centers for OI treatment in southern Brazil. Children and adolescents aged ≥ 5 years with clinical diagnoses of OI were included. Clinical data and socioeconomic status was evaluated. RESULTS: The sample consisted of 52 children and adolescents with OI (aged 5-17 years); 26 (50%) participants with type I OI, 13 (25%) type IV, 12 (23.1 %) type III, and 1 (1.9%) type V OI. Physical and social functioning domains differed significantly according to clinical presentation of OI with lowest scores in the severe type (OI type III). Pain seems to be the variable that is most associated with impact on the PedsQL domains. CONCLUSIONS: Overall, this study revealed differences in physical functioning and social functioning in relation to OI clinical presentation. These results reinforcing the importance of the clinical management of these patients with the aim of functional improvement and importance of pain control.

Repeating administration of Epworth Sleepiness Scale is clinically useful.

PURPOSE: We aimed to verify whether it is clinically useful to repeat the Epworth Sleepiness Scale (ESS) in individuals with suspected sleep-disordered breathing (SDB). METHODS: In this cross-sectional, prospective study, results of the repeated administration of the ESS were analyzed. In 929 consecutive patients, ESS was obtained as usual in the laboratory routine, immediately before the sleep study (ESS1) and was repeated in the morning, after the polysomnography (ESS2). ROC curve, classical psychometry, and item response theory (IRT) Rasch analysis were used to assess measurement properties of ESS. RESULTS: The ESS1 score was (mean ± SD), 11 ± 5.1, and the ESS2, 13 ± 4.7 (p < 0.001). Change in ESS score is explained in multivariate analysis by age, but not by gender, educational level, change in Stanford Sleepiness Scale, symptoms of sleep disorder, or polysomnography results. Accuracy of an ESS score >10 to predict apnea-hypopnea index ≥5 increased from 56% (ESS1) to 72% (ESS2). IRT psychometric properties (unidimensionality, invariance, local independence) were maintained in ESS2. CONCLUSIONS: Repeating the administration of the Epworth Sleepiness Scale in a clinical setting increases its score and diagnostic accuracy and correlation with SDB variables, without changing the psychometric properties of the scale. This experiment indicates the clinical usefulness of repeating the ESS. The scale can be repeated at a negligible cost, before dismissing individual patients on the basis of a low ESS score, discontinuing a potentially lifesaving diagnostic and therapeutic process.