X-rays remain important and MRI scans are also suitable and widely used. Scans involving nuclear medicine may not be appropriate for children. It is important that all children should start enzyme replacement therapy to obtain peak bone mass so that they are not susceptible to fractures and can grow normally. There is no consensus yet about the best regime or protocol but hopefully one will be reached soon. It is important to take into account compliance and needle phobia as well as response to treatment.
Quality of life is as important for children as it is for adults although it is harder to assess.
There is a need for a standardised protocol which is suitable for children. We need proper data collection and analysis to help us and this should be centralised at a few centres. Neurological Forms Of the 25 children we reviewed, eight had Type 3 disease. This is quite a significant number. We carry out enzyme assay tests to diagnose Gauchers disease and then look for the presence of neurological features.