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 gastrointestinal disorder
- constipation
- feeding difficulty
- behavioral difficulties
Risk factors
- advanced maternal age
- previous child with Down syndrome
- parental karyotype with a translocation
Diagnostic tests
1st tests to order
- chromosomal karyotype
- CBC with differential
- echocardiogram
- hearing test
- thyroid function tests
- vision exam
Tests to avoid
- routine celiac screen
- routine cervical spine x-ray
Tests to consider
- abdominal x-ray
Treatment algorithm
newborns
children
Contributors
Authors
Kishore Vellody, MD
Professor of Pediatrics
Medical Director
Down Syndrome Center of Western Pennsylvania
UPMC 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.
References
Key articles
Bull MJ, Trotter T, Santoro SL, et al. Health supervision for children and adolescents with Down syndrome. Pediatrics. 2022 May 1;149(5):e2022057010.Full text
American College of Obstetricians and Gynecologists. Screening for fetal chromosomal abnormalities: ACOG Practice Bulletin summary, number 226. Obstet Gynecol. 2020 Oct;136(4):859-67.Full text
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Isolated hypotonia
- Zellweger syndrome
- Congenital hypothyroidism
More DifferentialsGuidelines
- Health supervision for children and adolescents with Down syndrome
- Guidelines on thyroid disorder in children and young people with Down syndrome: surveillance and when to initiate treatment
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