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 gastrointestinal disorder
- constipation
- feeding difficulty
- behavioural difficulties
Risk factors
- advanced maternal age
- previous child with Down's syndrome
- parental karyotype with a translocation
Diagnostic investigations
1st investigations to order
- chromosomal karyotype
Investigations to consider
- echocardiogram
- abdominal x-ray
- hearing test
- thyroid function tests
- haemoglobin
- vision examination
- dental examination
- developmental evaluation
- psycho-educational evaluation
- total IgA and anti-tissue transglutaminase antibodies
- polysomnography
- cervical spine x-rays
Treatment algorithm
newborns
children
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 topic.
Disclosures
JV declared that she had 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.
Differentials
- Isolated hypotonia
- Zellweger's syndrome
- Congenital hypothyroidism
More DifferentialsGuidelines
- Guidelines on thyroid disorder in children and young people with Down syndrome: surveillance and when to initiate treatment
- Medical care of adults with Down syndrome: a clinical guideline
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