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Osteogenesis Imperfecta

What is Osteogenesis Imperfecta (OI)?

OI is also known as "brittle bones". It is a genetic bone condition characterised by fragile bones that break easily. A person is born with this condition and is affected throughout his or her lifetime. OI is caused by a genetic mutation that affects the body's production of collagen, which can be found throughout the body, especially in a person's bones, joints, ligaments, teeth and skin.

As well as frequent fractured bones, people with OI often experience:

  • Bone pain
  • Muscle weakness
  • Hearing loss
  • Fatigue
  • Joint laxity
  • Curved bones
  • Scoliosis - curvature of the spine
  • Dentinogenesis imperfecta (brittle teeth)
  • Short stature

OI has a wide range of severities and can affect children in many different ways.

 

 

South West OI Service


The Bristol Royal Hospital for Children is one of four national centres in England that provide a Nationally Commissioned Highly Specialised OI Service. It was set up to offer a multi-disciplinary service to children and young people with OI. The Bristol Team covers the south-west of England and also provides support to children in South Wales on a case by case basis. Physiotherapy for the OI service is provided on an in-patient, out-patient and community basis.

 

 

What does the Physiotherapist do?


The role of the Physiotherapist working with a child with OI includes:

  • Advice on appropriate handling and positioning for parents of infants / toddlers to prevent fractures and promote development
  • Provide detailed assessments and treatments to promote gross motor development
  • Exercise rehabilitation to target muscle weakness, balance problems or muscle restrictions
  • Rehabilitation in the hydrotherapy pool is often used if the child's symptoms are easily aggravated by land exercises
  • Provide targeted rehabilitation following injuries, fractures and post-surgery
  • Liaison with Orthotist with regard to assessment and provision of suitable orthosis
  • Provide education packages to nurseries, schools and child care providers to maximise inclusion
  • Work closely with multi-disciplinary OI team including - Endocrinologist, Rheumatologist, Orthopaedic Consultant, Geneticist, Clinical Nurse Specialist, Occupational therapist, Psychologist, Radiologist
  • Liaison with professional peer groups nationally and internationally to develop clinical guidelines, audit and research
  • Provide support /education to other healthcare professionals

 

Physiotherapy Contact

  • Hannah Bassett - 0117 342 8525

 

 

Useful Links
 http://www.brittlebone.org/