AB008. Precision medicine in neurodevelopmental disorders: optimising outcomes for children and families through timely, accurate diagnosis and targeted treatment

Abstract: Neurodevelopmental disorders including developmental delay, intellectual developmental disorders, and autism, with comorbidities such as epilepsy, occur frequently in children (3–5 percent). Careful phenotyping and individualized investigations are needed to ensure accurate diagnosis and early identification of acquired or genetic causes. Specific management is indicated in many cases, to optimise patient outcomes and prevent recurrence. An approach to clinical assessment will be outlined, highlighting important features on examination, and neuroimaging. Resources to inform the diagnostic process will be presented, emphasizing the early identification of treatable causes of neurodevelopmental disorders, and suggested criteria for referral to sub-specialist neurologist, metabolic physician and clinical geneticist. A comprehensive approach to management of the child and family is outlined, to improve outcomes and quality of life. Instructive case examples will be provided of single gene disorders for which specific targeted treatments are available, illustrating the potential to change the natural history of these conditions.

Keywords: Neurodevelopmental disorders; diagnosis; targeted treatment