What Causes Osteogenesis Imperfecta in Children?
A gene mutation causes osteogenesis imperfecta. This mutation can be sporadic (happening at random), or a child can acquire the gene from either or both parents. However, there are parents who are carriers of the OI-causing gene. Being a carrier implies that one may not have the disease but can pass it on to their children.
Moreover, due to lack of type I collagen, babies born with OI have difficulty making connective tissue. Collagen is primarily present in bones, ligaments, and teeth, which contributes to bone strength. The body may not produce enough collagen as a result of the gene mutation, and bones may weaken.
How To Diagnose and Treat Osteogenesis Imperfecta in Children
X-rays, DNA tests, blood or urine tests, and even biochemical testing help diagnose brittle bone disease in children. In severe cases, prenatal testing, such as an ultrasound, can identify broken bones and other bone deformities before a baby is born.
Unfortunately, osteogenesis imperfecta is incurable. However, therapy (both physical and occupational), mobility aids, medicine, and surgery each contribute to treat a child’s specific symptoms. The goal is to avoid fractures, treat them properly when they occur, maintain movement and function, as well as enhance bones and muscles.
Managing osteogenesis imperfecta puts focus on preventing or minimizing deformities as well as maximizing the child’s functional ability. Hence, modifying daily activities can reduce the risk of fractures.
Learn more about Child Health here.