EPN 2019

Simone Ardern Holmes

Simone Ardern Holmes, Speaker at Simone Ardern Holmes: Speaker for Pediatrics Conference
Children’s Hospital at Westmead, Australia
Title : 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.

Biography:

Dr Simone Ardern-Holmes is a Paediatric Neurologist at The Children’s Hospital at Westmead, with expertise in the diagnosis and treatment of developmental delay, epilepsy, neurocutaneous syndromes, and other neurogenetic disorders. She trained at The Children’s Hospital Boston along with other Harvard Medical School affiliated centres, and has been awarded a PhD from The University of Sydney, based on extensive and original research on neurocutaneous disorders, novel treatment approaches, and impact on quality of life. Dr Ardern-Holmes participates in international research and education collaborations, and is an active mentor and teacher in professional ethics of medicine.

Watsapp