All about osteogenesis imperfecta in children
Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a genetic disorder in children meaning that it’s a lifelong condition. It causes fragile bones, leaving your child more susceptible to developing a fracture, even if they’ve only had a mild tumble.
In this article, paediatric orthopaedic surgeon Mr Gregory Firth, explores management strategies for osteogenesis imperfecta in children. He also explains when surgery may be helpful and how you, as a parent, can really make a positive difference to your child’s wellbeing.
What is osteogenesis imperfecta in children?
OI, better known as brittle bone disease, arises from mutations in the genes responsible for producing collagen, meaning that they either produce it incorrectly, or in too small a quantity. Collagen is a vital protein that helps bones to remain strong and flexible. OI is a lifelong condition that presents in different ways for different children. It can be very mild or sometimes, it’s life-threatening, so it needs careful ongoing management and care, led by an expert team.
What are the types of osteogenesis imperfecta in children?
There are several types of OI that affect children and they vary in the severity and the frequency of fractures that your child is likely to sustain. The most common types are:
- Type I: The mildest form, where children may mainly experience fractures during childhood, but their bone deformities are minimal, and growth is often unaffected.
- Type II: This is the most severe form, very sadly often resulting in death shortly after birth due to severe bone deformities and under-developed lungs.
- Type III: This is a severe form that leaves children with significant bone deformities. Fractures may occur before birth or shortly after and children typically have a shortened stature and may require mobility aids.
- Type IV: This is a moderate form where children have frequent fractures, but less severe bone deformities compared to Type III. Their growth may be moderately affected.
What are the signs and symptoms in children?
Children with OI may present with a variety of symptoms, including:
- Frequent fractures where there’s been mild or no trauma
- Bone deformities or bowing of the long bones
- Short stature, especially in more severe forms
- A blue or grey tint in the whites of the eyes (sclera)
- Loose joints or hypermobility
- Delayed motor development due to frequent fractures
- Weak teeth prone prone to fractures, known as dentinogenesis imperfecta
- Hearing loss, which may develop during adolescence or early adulthood
The severity of symptoms will vary based on the type of OI that your child has.
How is osteogenesis imperfecta diagnosed in children?
If your doctor thinks your child may have OI, you’ll be referred to an orthopaedic expert. They’ll carry out a clinical evaluation and diagnostic tests to help make an accurate diagnosis.
That will include assessing the frequency of fractures and examining your child for physical signs like blue sclera or bone deformities. They may also suggest using a range diagnostic tools including:
- X-rays to help identify fractures and any abnormal bone structures
- Genetic testing to confirm whether mutations in collagen-related genes are present
- Bone density tests to assess your child’s bone strength and help detect osteoporosis
If you have a family history of the disorder, pre-natal screening can sometimes identify osteogenesis imperfecta before birth.
How is osteogenesis imperfecta treated in children?
While there’s no cure for osteogenesis imperfecta, there are treatments focused on managing symptoms, preventing fractures, and improving quality of life. Some common treatment options include:
- Bisphosphonates - These drugs help increase bone density and reduce fracture risk.
- Physical therapy - This can strengthen muscles, improve mobility and help prevent fractures through controlled activity.
- Surgical interventions - Some children may require surgery to correct bone deformities or to insert rods into bones for additional support.
- Assistive devices - Mobility aids such as wheelchairs, crutches, or braces may be used for children with severe OI to enhance movement and reduce the risk of injury.
OI should always be treated by a paediatrician with experience in caring for children presenting with the condition, supported by input from other specialists including physiotherapists and orthopaedic surgeons for any acute fractures or deformities that may require surgical correction.
How can parents support a child with osteogenesis imperfecta?
If your child has OI, you’ll understandably be very concerned. So, it’s good to know that there’s a great deal that you can do to support your child.
It’s important that your child gets regular and expert medical care and you should encourage safe physical activities that can help them to strengthen their muscles. You can also make lots of adjustments to your home environment to reduce the risk of your child having a fall.
You’ll need to regularly communicate with orthopaedic specialists, physiotherapists and other healthcare professionals who can help to manage your child’s condition effectively. It’s also key to encourage social interactions and offer emotional support which can help children with OI thrive and maintain a positive outlook on life.
Talking to the right specialist team can help you to understand how severe your own child’s condition may be, as a first step to getting the right treatment and management plan.