An approach to developmental regression

Neurodevelopmental regression is often challenging to clinicians in terms of diagnosis and management. The purpose of this article is to outline a systematic approach to a child presenting with suspected neurodevelopmental regression.Inherited metabolic disorders account for significant proportion of developmental regression in childhood. Onset of regression and the associated symptoms provide clues to the underlying diagnosis. A systematic approach will aid in diagnosing treatable disorders and early treatment. Therapeutic options in most cases are limited and management is essentially symptomatic. Palliative care and family counselling play an invaluable role in the multidisciplinary management.Future treatment is on the horizon in the form of gene therapy, enzyme replacement therapy and stem cell therapy leading hopefully to improved quality of life and longevity of these life limiting conditions.