Last reviewed: 6 Nov 2021
Last updated: 29 May 2018

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • common physical examination features
  • hypotonia
  • congenital heart disease
  • gross motor delay
  • language delay
  • cognitive disability
  • hearing loss
  • autism spectrum disorder

Other diagnostic factors

  • congenital GI disorder
  • constipation
  • feeding difficulty
  • behavioural difficulties

Risk factors

  • advanced maternal age
  • previous child with DS
  • parental karyotype with a translocation

Diagnostic investigations

Investigations to consider

  • echocardiogram
  • abdominal x-ray
  • hearing test
  • TFTs
  • haemoglobin
  • vision examination
  • dental examination
  • developmental evaluation
  • psycho-educational evaluation
  • total IgA and anti-tissue transglutaminase antibodies
  • polysomnography
  • cervical neck x-rays

Treatment algorithm

ACUTE
ONGOING

Contributors

Authors

Kishore Vellody, MD

Associate Professor of Pediatrics

Medical Director

Down Syndrome Center of Western Pennsylvania

Children’s Hospital of Pittsburgh

Pittsburgh

PA

Disclosures

KV declares that he has no competing interests.

Acknowledgements

Dr Kishore Vellody would like to gratefully acknowledge Dr Jeannie Visootsak, the previous contributor to this monograph. JV declares that she has no competing interests.

Peer reviewers

Nirupama S. Madduri, MD

Assistant Professor

Developmental-Behavioral Pediatrics

Vanderbilt University School of Medicine

Nashville

TN

Disclosures

Not disclosed.

W. Carl Cooley, MD

Medical Director

Crotched Mountain Foundation

Medical Director

Center for Medical Home Improvement

Adjunct Professor of Pediatrics

Dartmouth Medical School

Greenfield

NH

Disclosures

WCC declares that he has no competing interests.

Use of this content is subject to our disclaimer