Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Hematologic abnormalities in children with Down syndrome

N J Roizen1, A P Amarose

  • 1Department of Pediatrics, University of Chicago Pritzker School of Medicine, Wyler Children's Hospital, La Rabida Children's Hospital and Research Center, Chicago, Illinois.

American Journal of Medical Genetics
|June 15, 1993
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Down syndrome: progress in research.

Mental retardation and developmental disabilities research reviews·2001
Same author

Etiology of hearing loss in children. Nongenetic causes.

Pediatric clinics of North America·1999
Same author

Nutrient intake and obesity in prepubescent children with Down syndrome.

Journal of the American Dietetic Association·1996
Same author

Acquisition of services recommended by a multidisciplinary medical diagnostic team for children under three years of age evaluated for developmental delays.

Journal of developmental and behavioral pediatrics : JDBP·1996
Same author

Methylphenidate dosing: twice daily versus three times daily.

Pediatrics·1996
Same author

Resolution of intracranial calcifications in infants with treated congenital toxoplasmosis.

Radiology·1996
Same journal

Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002.

American journal of medical genetics·2003
Same journal

Defects of blastogenesis.

American journal of medical genetics·2002
Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002
Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002
Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002
Same journal

Status of the human malformation map: 2002.

American journal of medical genetics·2002
See all related articles

Children with Down syndrome (DS) often exhibit macrocytosis (high MCV) and leukopenia (low WBC counts). Folate levels did not explain these common hematologic findings in DS.

Area of Science:

  • Pediatric Hematology
  • Genetics
  • Down Syndrome Research

Background:

  • Down syndrome (DS) is associated with various health complications.
  • Hematologic abnormalities are frequently observed in children with DS.
  • Understanding these differences is crucial for comprehensive care.

Purpose of the Study:

  • To compare hematologic parameters in children with and without Down syndrome.
  • To investigate the prevalence of macrocytosis and leukopenia in young children with DS.
  • To explore the potential role of folate deficiency in these hematologic findings.

Main Methods:

  • A comparative study involving 18 children with DS and 18 age/gender-matched healthy controls (ages 2-6 years).
  • Analysis of complete blood counts, including Mean Corpuscular Volume (MCV) and White Blood Cell (WBC) counts.

Related Experiment Videos

  • Measurement of serum and red blood cell (RBC) folate concentrations.

    • Main Results:

    • Children with DS showed significantly higher MCVs and hematocrits compared to controls.
    • A higher percentage of children with DS had MCVs above the 97th percentile (66% vs. 11%).
    • Children with DS had significantly lower WBC counts (33% below the 5th percentile vs. 6% in controls).
    • No significant differences in serum or RBC folate levels were found between the groups.

    Conclusions:

    • Macrocytosis and leukopenia are common hematologic findings in children with Down syndrome.
    • These abnormalities are not explained by folate deficiency.
    • Further research may be needed to elucidate the underlying mechanisms of these hematologic changes in DS.