Objective: Osteogenesis imperfecta (OI) which is a heterogenic group of diseases presenting with bone fragility, skeletal deformations and limited mobility may confer a risk of several non-skeletal health issues and is associated with adaptational social problems. The aim of the qualitative descriptive study was to determine the most important areas (problems?) related to social functioning, familial environment, hospital amenities and social needs in children with OI.
Methods: Nineteen children (10 boys, 9 girls) aged 517 years with different clinical forms of OI (type I, n=8; III; n=7; IV, n=3) and their caregivers/parents completed a questionnaire including 26 items, and were interviewed, using a semi-structured design and open questions, on fracture rate/prevalence, limitations in social functioning, access to facilities, locomotor abilities, medical care, housing and education, self-reliance, manual abilities, leisure time and habits, socializing with peers, essential difficulties in the familial and school environment, barriers in social integration, and needs for ameliorative interventions addressed to improve these domains.
Results: The severity of functional disability was strictly related to clinical type of the disease. The majority of patients (12) were able to walk independently, three were able to walk on crutches, whereas four used wheelchair. Fine-motor skills (drawing, lacing up, puzzling, operating utensils) were not restricted by the disease. Only five respondents reported spending leisure time actively or outdoor with their peers. The interviews revealed emerging themes of which the most essential were limited daily activity resulting in coerced stay at home, unadjustedness of school and public institutions to locomotor disability, school absence and decreased academic performance, limited socializing, non-acceptance by age-mates. According to participants and parents views, the remedial and corrective actions to be undertaken included: elimination of architectural barriers, customization of housing according to individual needs, facilitation to physiotherapy access. Caregivers of three patients were neither able to express their expectations nor map out the needs.
Conclusions: Functional limitations, social integration neglects among children with OI appear as important as physical disability. The participants do not focus on their physical restrictions caused by the disease. Isolation from the school environment and contemporaries considerably disturb potential social roles in OI. Personalized care plan in OI should include not only physical health or rehabilitation, but should substantially address facilitation in social integration, breaking up barriers in local environment, and should implement an individualized age-adjusted corrective schedule regarding socializing.
Disclosure: The authors declared no competing interests.