Bone Abstracts

Introduction: Osteogenesis imperfecta (OI) is a clinically heterogeneous heritable connective tissue disorder characterised by increased bone fragility and low bone density, resulting in frequent fractures from little or no trauma and bony deformities such as curvature of the long bones. Type and severity of OI is variable. OI affects the physical, social and emotional well-being of the child, young person and their family. The long term goal for children and young people with...

Background: Osteogenesis imperfecta (OI) is a rare skeletal disorder characterised by bone fragility usually due to inherited mutations in the genes for type 1 collagen. Children with OI present with numerous physical manifestations due to ligamentous laxity and bone fragility (1).Presenting problem: Poor posture and associated back pain is a common problem for many children with mild to moderate OI. Hypermobility can result in muscle imbalance which may...

Background: Addressing the needs of a child with Severe, Complex or Atypical Osteogenesis Imperfecta (SCAOI) requires a full MDT approach to enable the child to access their environment and meet their true potential. MDT input is essential in ensuring the delivery of medicine, participation in meaningful activity and supporting of the functioning of the child and family in complex systems.Presenting problem: Osteogenesis Imperfecta (OI) impacts upon all ...

Background: ‘Play Plans’ are now being routinely used at the NHS England Sheffield Severe, Complex and Atypical Osteogenesis Imperfecta Service (SCAOI) as an intervention designed to enhance early development. These plans are MDT formulated and encompass carefully targeted activities designed to meet the child’s needs at their exact stages of development across five domains; Cognition, Social & Emotional Development, Motor, Adaptive Skills and Communication ...

Background: A minority of children with Osteogenesis Imperfecta (OI) seen within the Sheffield National Severe, Complex and Atypical Service (SCAOI) were also identified as showing symptoms consistent with an Autism Spectrum Disorder (ASD) (Balasubramanian et al. 2018). Diagnosis of ASD in conjunction with OI may be delayed due to presenting problems being inappropriately attributed to OI resulting in specialised ASD input not being received by children.<p class="...