A clinical approach to developmental delay and intellectual disability

Abstract

Global developmental delay and intellectual disability are phenotypically and genetically heterogeneous and a specific diagnosis is not reached in many cases. This paper outlines a systematic approach to global developmental delay and intellectual disability.

Keywords: Chromosomal micro-array; WES; WGS; clinical exome; global developmental delay; intellectual diasbility; learning disability.

© Royal College of Physicians 2017. All rights reserved.

Figures

Fig 1.

A suggested diagnostic pathway for global developmental delay/intellectual disability. CES = clinical exome sequencing; GDD = global developmental delay; ID = intellectual disability; WES = whole exome sequencing; WGS = whole genome sequencing