Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p171 | (1) | ICCBH2017

Review of lower limb range of movement following intramedullary fixation in children with Osteogensis Imperfecta

Marr Caroline

Osteogenesis Imperfecta (OI) is a genetic condition which alters collagen biosynthesis(1). Prevalence is estimated at 1 in every 15, 000 births. It is a disorder with a wide spectrum of severity, with cases ranging from the extremely mild to those of perinatal mortality. Typical features include bone fragility; short stature; long bone deformity and persistent blue sclera(2). Although currently there is no cure for OI, with the input of a multidisciplinar...

ba0006p196 | (1) | ICCBH2017

A qualitative enquiry examining the lived experience of mothers who have children with osteogenesis imperfecta

Marr Caroline

Osteogeneses Imperfecta (OI) is a skeletal dysplasia which affects collagen biosynthesis. As with other chronic conditions it is recognised that the heterogeneity of perspectives between parents and health care professionals (HCP) can alter the course of a child’s health outcomes irrespective of the child’s disease. This qualitative study was employed to explore a mother’s lived experience of having a child with OI.Objectives: To gain impr...

ba0007p69 | (1) | ICCBH2019

Experience of implementation and monitoring of burosumab treatment in a multi-disciplinary setting

Marr Caroline , Greenacre Gemma , Arundel Paul

Objective: In 2018 we started treating children with X-linked hypophosphataemic rickets (XLH) with burosumab, initially as part of an industry-sponsored early access program. We present what we did, the barriers to implementation and broader lessons for the introduction of treatments for rare bone diseases in the future.Method: Firstly, we identified suitable patients under the age of 18 years with XLH. For convenience we arranged dedicated clinics in wh...

ba0007p198 | (1) | ICCBH2019

The multidisciplinary team (MDT) approach: What does it look like and why does it matter? An illustration of a true MDT approach to provide holistic care for a child with severe and complex osteogenesis imperfecta

Jones Rebecca , Seasman Alison , Marr Caroline , Bone Team Metabolic

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 ...

ba0007p197 | (1) | ICCBH2019

A playful type of intervention for infants with osteogenesis imperfecta

Jones Rebecca , Ford Davina , Marr Caroline , Seasman Alison , Pickett Clare , Team Metabolic Bone

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 ...

ba0007p216 | (1) | ICCBH2019

Dual diagnosis of autism and osteogenesis imperfecta: Case examples to illustrate the implications of dual diagnosis for enhanced outcomes for child and family

Jones Rebecca , Seasman Alison , Marr Caroline , Bishop Nicholas , Arundel Paul , Balasubramanian Meena , Team Metabolic Bone

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="...