REVIEW – December 2021

Genetic evaluation of children with global developmental delay

Authors: Laura Mihkla, Katrin Õunap

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Global developmental delay is a complex paediatric problem demanding physicians’ attention, diagnostic evaluation and expert consultations. This overview article gathers recommendations for the diagnostic evaluation of a child with global developmental delay with a focus of genetic testing. The suggestions and the diagnostic algorithm presented here can be helpful both for beginners and for experienced clinicians in evaluating a child with global developmental delay.