Investigation of progressive developmental delay

The investigation of children with developmental regression can be difficult. It is first necessary to define that there is regression. Following this, conditions where there is no neurodegeneration should be excluded by appropriate clinical review and investigation. This will enable a targeted scheme where neuroimaging and selective testing are employed to attempt to reach a diagnosis. Consideration of the age and mode of presentation of the majority of neurodegenerative disorders should allow a more focused investigation scheme.