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
Treatment algorithm
Contributors
Authors
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.
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
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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