Autism in patients with Osteogenesis Imperfecta
Research type
Research Study
Full title
Identification of novel phenotypes in a cohort of children with bone fragility and autism
IRAS ID
177990
Contact name
Paul Dimitri
Contact email
Duration of Study in the UK
3 years, 7 months, 8 days
Research summary
Sheffield is the lead centre for the ‘Highly specialised Severe, Complex and Atypical OI’ in England (~120 patients) and has the largest cohort of children with Osteogenesis Imperfecta (OI) in Western Europe (>440 children). We have identified a cohort of children who present with bone fragility and autistic traits. Autism and/or autistic spectrum disorder (ASD) is not a recognised association in OI and children with bone fragility are said to have normal intellectual development. Autistic traits are often overlooked in younger children with OI due to the focus on their motor delay.
We will undertake detailed phenotyping in this cohort of children within our service (~10) who display autistic traits; followed by genomic studies (targeted gene panels; exome sequencing) to identify if these patients share a common genotype. This will lead to clinical definition of new phenotypes in children presenting with bone fragility and ascertain whether autism is an associated feature of OI.
Highlighting this association would be important in increasing awareness. Early diagnosis of ASD in these children would enable provision of early intervention and support. Identification of a shared genotype would further our understanding of the genetic link between OI and ASD and provide clues to underlying mechanism.
REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
15/YH/0196
Date of REC Opinion
8 Jun 2015
REC opinion
Further Information Favourable Opinion