Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

Background: This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with short-statured skeletal dysplasia conditions across three centres; in New York, Newcastle-upon-Tyne and Norway.

Methods: Questionnaires were sent to patients registered at the centres or distributed to adults attending clinics. The questionnaires included demographics, medical history, depression (PHQ-8), anxiety (GAD-7), pain catastrophizing, activities of daily living (HAQ), and HRQOL (SF 36/RAND-36 and PROMIS-29).

Cardiac health, type I collagen, and aging in the mouse model of osteogenesis imperfecta and a cohort of adults with OI.

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder with marked skeletal fragility and increased recognition as a pleiotropic type I collagenopathy. The impact of OI-causing gene variants on cardiac health and lifespan is just beginning to be understood. To begin to investigate cardiac manifestations of OI-causing type I collagen variants, we utilized the osteogenesis imperfecta murine () model to examine survival with increased age, as well as cardiac function and collagen expression at 4 and 18 mo of age.