Last reviewed: November 2017
Last updated: December  2017

Summary

Definition

History and exam

Key diagnostic factors

  • common physical exam 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
  • behavioral 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
  • hemoglobin
  • vision exam
  • dental exam
  • developmental evaluation
  • psychoeducational evaluation
  • total IgA and antitissue transglutaminase antibodies
  • polysomnography
  • cervical neck x-rays
Full details

Treatment algorithm

ACUTE
ONGOING

Contributors

Authors VIEW ALL

Associate Professor of Pediatrics

Medical Director

Down Syndrome Center of Western Pennsylvania

Children’s Hospital of Pittsburgh

Pittsburgh

PA

Disclosures

KV is Vice President of the Executive Committee of the Board of the National Down Syndrome Congress.

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 VIEW ALL

Assistant Professor

Developmental-Behavioral Pediatrics

Vanderbilt University School of Medicine

Nashville

TN

Disclosures

Not disclosed.

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.

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