A clinical approach to developmental delay and intellectual disability

Pradeep Vasudevan; Mohnish Suri

doi:10.7861/clinmedicine.17-6-558

A clinical approach to developmental delay and intellectual disability

Clin Med (Lond). 2017 Dec;17(6):558-561. doi: 10.7861/clinmedicine.17-6-558.

Authors

Pradeep Vasudevan¹, Mohnish Suri²

Affiliations

¹ Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK pradeep.vasudevan@uhl-tr.nhs.uk.
² Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK.

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.

Publication types

Review

MeSH terms

Developmental Disabilities / diagnosis*
Developmental Disabilities / genetics
Developmental Disabilities / physiopathology
Genetic Testing
Humans
Intellectual Disability / diagnosis*
Intellectual Disability / genetics
Intellectual Disability / physiopathology
Microarray Analysis
Phenotype