ABSTRACT
Maximizing ambulation is a key treatment aim in moderate to severe osteogenesis imperfecta (OI). Here we investigated which early clinical characteristics predicted ambulation function at skeletal maturity. We assessed Bleck ambulation scores in 88 individuals with OI at 5 to 6 years of age and again at final height (at 15 to 24 years of age). At 5 to 6 years of age, 33 (38%) children were non-ambulators, 32 (36%) were fully independent ambulators, and 23 (26%) had intermediate ambulation skills. At skeletal maturity, 58% of the study participants had the same mobility level as at first assessment. The ability to ambulate independently at skeletal maturity was predicted by independent ambulation at 5 to 6 years (odds ratio [OR] 22.6, 95% confidence interval [CI] 4.9-105; P < 0.001), height z score at 5 to 6 years (OR 3.1, CI 1.6-6.3; P = 0.001) and weight z score at 5 to 6 years (OR 0.44, CI 0.19-0.99; P = 0.04).Conclusion: Independent ambulation at 5 to 6 years was the main determinant of independent ambulation at skeletal maturity. This highlights the importance of maximizing ambulation in children below 5 years of age. What is Known: â¢walking ability varies markedly between OI types. The highest level of mobility was found in OI type I, the lowest in OI type III who require mobility aids; intermediate levels were reported for OI type IV. ⢠OI type is a key predictor of ultimate ability to ambulate, whereas the timing of developmental milestones was not associated with walking ability What is New: ⢠overall key predictors of mobility function at skeletal maturity were mobility status and height z-score at 5-6 years of age ⢠Childrenwho were non-ambulators at 5 to 6 years of age had a higher chance of having better mobility at skeletal maturity if they had good upper extremity function, as expressed in the PEDI Self Care Score.
Subject(s)
Osteogenesis Imperfecta , Adult , Body Weight , Bone Density , Child , Child, Preschool , Humans , Self Care , WalkingABSTRACT
PURPOSE: The aims of this study were (1) to review the current body of knowledge on the transition experiences of adolescents with osteogenesis imperfecta (OI) and appraise the evidence available on transfer summary tools, (2) to develop guidelines for the successful transition of adolescents with OI from child to adult healthcare services, and (3) to create a transfer tool tailored to adolescents with OI. DESIGN AND METHODS: This knowledge synthesis study was overseen by an interprofessional expert task force at Shriners Hospitals for Children-Canada and entailed (1) review of the literature, (2) development of guidelines, and (3) creation of a tool. RESULTS: The tool was created from evidence compiled from case reports, clinical examples, and nonexperimental studies. CONCLUSION: The transfer tool proposes guidelines designed to facilitate a smooth transition from child to adult healthcare services. It also offers creation of a clinically meaningful, person-focused, OI transfer tool that may in turn help improve the transition experience for adolescents. This study significantly contributes to the dearth of literature on transition experiences in OI and on transfer tools in general. Future research is needed to evaluate the implementation and evaluation of the OI transfer tool in practice.
Subject(s)
Evidence-Based Practice , Osteogenesis Imperfecta/therapy , Transition to Adult Care , Adolescent , Canada , Humans , Nurse Clinicians , Practice Guidelines as Topic , Randomized Controlled Trials as Topic , Young AdultABSTRACT
Background: Pain is a common symptom of osteogenesis imperfecta (OI) among children and adolescents. However, little is currently known of the pain experiences of adults with OI. Aims: The aims of this study were to critically appraise the studies assessing OI pain, to synthesize the pain experiences of adults with OI, and to compare the adult OI pain experiences to childhood. Methods: An integrative review was conducted. Five electronic bibliographic databases were searched. Published quantitative, qualitative, and/or mixed-method studies assessing pain in adults with OI were screened, reviewed, and appraised. Descriptive statistics were used to calculate quality scores, summarize sample characteristics, and synthesize findings. Extracted pain data were analyzed using constant comparison and consolidated into meaningful themes. Results: From the 832 titles identified, 14 studies including seven case reports met the inclusion criteria. Study appraisal scores ranged from low to moderate using the Quality Assessment Tool and the Case Report Checklist. The majority of studies assessed pain as a secondary outcome (71.4%) using well-established tools (64.2%). Adults with OI experience pain of mild to moderate intensity, which may interfere with completion of daily activities. Two themes emerged from analysis of the data: mild chronic pain persists despite surgical, pharmacological, or nonpharmacological interventions and past fractures and structural deformities may trigger onset of chronic pain in adulthood. Conclusion: Limited attention has been given to exploring the pain experience of adults diagnosed with OI. Pain is a long-term symptom of OI requiring further in-depth investigation to better understand and manage pain in adults with OI.
Contexte: La douleur est un symptôme commun de l'ostéogenèse imparfaite (OI) chez les enfants et les adolescents. Toutefois, on sait actuellement peu de choses au sujet de la douleur ressentie par les adultes atteints d'OI.But: Effectuer une appréciation critique des études évaluant la douleur occasionnée par l'OI, faire la synthèse de l'information sur la douleur ressentie par les adultes atteints d'OI et comparer la douleur ressentie à l'âge adulte à celle ressentie pendant l'enfance.Méthodes: Un examen par intégration a été mené. Des recherches ont été effectuées dans cinq bases de données bibliographiques électroniques. Les études quantitatives, qualitatives ou mixtes publiées qui évaluaient la douleur chez les adultes atteints d'OI ont été sélectionnées, examinées et évaluées. Des statistiques descriptives ont été utilisées pour calculer leur score de qualité, résumer les caractéristiques de leur échantillon et synthétiser leurs conclusions. Les données sur la douleur qui avaient été extraites ont été analysées à l'aide de la méthode de la comparaison constante et regroupées en thèmes significatifs.Résultats: Parmi les 832 titres recensés, 14 études comprenant sept rapports de cas répondaient aux critères d'inclusion. Au moment de les évaluer, les études ont obtenu un score de qualité allant de faible à modéré en utilisant l'Outil d'évaluation de la qualité et la Liste de vérification pour les études de cas. La majorité des études évaluaient la douleur en tant que résultat secondaire (71,4 %) à l'aide d'outils bien établis (64,2 %). Les adultes attents d'OI ressentent une douleur d'une intensité allant de légère à modérée, qui peut perturber leurs activités quotidiennes. Deux thèmes ont émergé de l'analyse des données : « La douleur chronique légère persiste malgré les inerventions chirurgicales, pharmacologiques ou non phramacologiques ¼ et « les fractures passées et les malformations structurelles peuvent déclencher la douleur chronique à l'âge adulte ¼.Conclusion: L'étude de la douleur ressentie par les adultes ayant reçu un diagnostic d'OI n'a reçu qu'une attention limitée. La douleur est un symptôme d'OI à long terme qui nécessite une investigation plus approfondie afin de mieux la comprendre et d'en assurer une meilleure prise en charge chez les adultes atteints d'OI.
