Bone Abstracts

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.

Presenting problem: We present two case examples of young children seen within the NHS England Severe and Complex Osteogenesis Imperfecta Service (SCAOI) who received additional diagnoses of ASD. These two children were aged 4 years and 6 years old at the time of diagnosis of ASD whereas they had received diagnoses of OI in infancy. Their early development was unusual, both displaying delayed language & communication. Apparent features that would be expected to be noticed in typical development included repetitive behaviours such as rocking/flapping and distinctly unusual communication styles and play. Neither child had been identified as potentially having ASD by community services such as health visitor checks or by nursery. Both children showed challenging behaviours.

Clinical management: Diagnosis of ASD has had significant positive effects for both children and their families. Professionals working with children with SCAOI need to be alert for ASD ‘Red Flags’. This presentation details the diagnostic process, interventions and outcomes and includes Child A transitioning from mainstream to special school with the more supportive environment resulting in a significant decrease in problem behaviours. Child B remained in mainstream school but received specialist ASD support and the school benefited greatly from the understanding of the child in the context of their additional ASD diagnosis.

Discussion: Due to the possibility of dual diagnosis being overlooked as a result of the motor delay present with OI and a lack of understanding of OI outside of specialist services, it is very important for specialist services to notice ASD ‘red flags’ as detailed in this presentation and refer for full assessment where required.

Disclosure: NJB consults for Alexion, Mereo, UCB and Amgen, and receives grant support for clinical studies from Alexion and Amgen. PA receives Honoraria/expenses: Alexion and Kyowa Kirin and expenses from BioMarin.