Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p178 | (1) | ICCBH2019

The role of hydrotherapy in the management of children with severe Osteogenesis Imperfecta

Hupin Emilie , Edwards Karen , DeVile Catherine

Background: Osteogenesis Imperfecta (OI) is most commonly caused by a defect in the genes which produce type 1 collagen. Features of OI include fractures, hypermobility and weakness. Severely affected children can present with deformities such as bowing of long bones and spinal curves. Mobility may be significantly impaired. The medical management of children with severe OI includes orthopaedic surgery and bisphosphonate treatment. Physiotherapy to promote function and partici...

ba0007p213 | (1) | ICCBH2019

Evaluating a therapy-led school and nursery outreach service for children with Osteogenesis Imperfecta

Bultitude Alex , Hupin Emilie , DeVile Catherine

Objective: Osteogenesis Imperfecta (OI) is most commonly caused by a defect in the genes which produce type 1 collagen. Features of OI include easy fracturing, short stature, hypermobility, weakness and fatigue. Our experience is that including a child with OI within a school or nursery environment can cause anxiety for both carers and staff. Questions often arise regarding how to promote participation whilst maintaining a child’s safety. Keeping up with the curriculum ca...

ba0004p46 | (1) | ICCBH2015

Evaluation of the use of a dynamic elastomeric fabric orthosis to improve truncal stability in a young child with osteogenesis imperfecta

Edwards Karen , Hupin Emilie , Cheung Moira , DeVile Catherine

Osteogenesis imperfecta (OI) is most commonly caused by a defect in the gene that produces type I collagen. Features include fractures and ligamentous laxity. Reduced muscle tone is often seen, which can result in gross motor delay in younger children.Dynamic elastomeric fabric orthoses (DEFOs or lycra garments) are widely used in children with low truncal muscle tone, have been shown to improve posture, and increase stability. There is no research in th...

ba0004p151 | (1) | ICCBH2015

Do children with mild to moderate osteogenesis imperfecta (OI) with abdominal muscle weakness have a higher incidence of pars defects? A physiotherapy pilot

Hupin Emilie , Edwards Karen , Chueng Moira , Allgrove Jeremy , DeVile Catherine

Objective: Osteogenesis imperfecta (OI) is most commonly caused by a defect in the genes that produce type I collagen. Clinical features include low bone mass, fractures and spinal abnormalities. Pars defects are abnormalities in the pars interarticularis of vertebrae. There is a higher incidence of pars defects in the lumbar spine in children with OI compared to the normal population. Abdominal muscle weakness and altered spinal postures are common presentations in the childr...

ba0006p040 | (1) | ICCBH2017

Atypical femoral fractures in 2 children treated with bisphosphonates

Jacobs Benjamin , Brain Caroline , DeVile Catherine , Allgrove Jeremy , Peeva Daniela , Hashemi-Nejad Aresh , Mughal M Zulf

Background: Atypical Femur Fracture (AFF) has become widely reported as a complication of bisphosphonate therapy in adults since the first case report in 2005. A trend towards a similar pattern of fractures has been reported in children in Sheffield in 2012. A 13 year old boy was reported in 2014 with an ‘AFF’ of the tibia but that fracture did not meet the standard diagnostic criteria of AFF. Last year a 16-year-old girl treated with pamidronate for idiopathic juven...

ba0007p117 | (1) | ICCBH2019

Use of Lego® to explain genetic variations in type 1 collagen – a pilot study

Allgrove Jeremy , Heathfield Mark , Edwards Karen , Clark Chris , Hupin Emilie , Riddington Megan , Bultitude Alex , Crowe Belinda , DeVile Catherine

Objectives: To examine the usefulness of Lego® as a visual reinforcer to explain genetic mutations to parents and carers of children and young people who have osteogenesis imperfecta (OI).Methods: Before entering a dedicated OI clinic, patients and carers completed a quantitative questionnaire devised by one of the team (MR), asking how much they knew about the genetic mutations causing OI within their families and whether they wished for a more det...

ba0006oc1 | (1) | ICCBH2017

NBAS variants causing a novel form of inherited bone fragility

Balasubramanian Meena , Hurst Jane , DeVile Catherine , Bishop Nick , Arundel Paul , Offiah Amaka , Pollitt Rebecca , Hughes David , Longman Dasa , Caceres Javier , Skerry Tim

Background: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1/15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcomes.Methodology and results: Trio whole exome sequencing in patients with OI identified, in two patients, compound heterozygous mutations in NBAS</...

ba0007p45 | (1) | ICCBH2019

Osteogenesis imperfecta type 15 with neurological phenotype associated with homozygous WNT1 mutation and uniparental isodisomy for chromosome 12

Crowe Belinda , Heathfield Mark , Edwards Karen , Clark Chris , Hupin Emilie , Bultitude Alex , Calder Alistair , Lees Melissa , Liesner Ri , Allgrove Jeremy , DeVile Catherine

Background: Osteogenesis imperfecta (OI) type 15 is a rare autosomal recessive form caused by WNT1 mutations. In addition to bone fragility it may be associated with neurological impairment. We report a unique case of OI type 15 in a child with uniparental isodisomy for chromosome 12 who also has von Willebrand disease type 2N, congenital ptosis, early onset scoliosis and a movement disorder.Presenting Problem: A female infant was delivered normally at 4...