Down syndrome

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Down syndrome Microchapters
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Patient Information
Overview
Historical Perspective
Pathophysiology
Causes
Differentiating Down syndrome from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Sociological and Cultural Aspects
Case Studies
Case #1
Down syndrome On the Web
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Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Down syndrome
CDC on Down syndrome
Down syndrome in the news
Blogs on Down syndrome
Directions to Hospitals Treating Down syndrome
Risk calculators and risk factors for Down syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies | Sociological and Cultural Aspects

Sources

• Arron, Joseph R., et al. (2006). NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature, 441: 595-599.
• Epstein, Charles J. (2006). Critical Genes in Critical Region. Nature, 441: 582-583.
• Ganong, W.J. (2005). Review of Medical Physiology. New York: Mc-Graw Hill.
• Nelson, David L., & Gibbs, Richard H. (2004). The Critical Region in Trisomy-21. Science, 306: 619-621.
• Olson, L.E., Richtsmeier J.T., & Reeves R.H. (2004). A Chromosome-21 Critical Region Does Not Cause Specific Down Syndrome Phenotypes. Science, 306: 687-690.
• Reeves, Roger H., et al. (2000). The DNA Sequence of Human Chromosome 21. Nature, 405: 311-319.
• Underwood, J.C.E. (2004). General and Systematic Pathology. Edinburgh: Churchill Livingstone.

Bibliography

• Beck, M.N. (1999). Expecting Adam. New York: Berkley Books.
• Buckley, S. (2000). Living with Down Syndrome. Portsmouth, UK: The Down Syndrome Educational Trust. ISBN 1903806011.
• Down Syndrome Research Foundation (2005). Bright Beginnings: A Guide for New Parents. Buckinghamshire, UK: Down Syndrome Research Foundation.
• Dykens EM (2007). "Psychiatric and behavioral disorders in persons with Down syndrome". Ment Retard Dev Disabil Res Rev. 13 (3): 272–8. doi:10.1002/mrdd.20159. PMID 17910080.
• Hassold, T.J., D. Patterson, eds. (1999). Down Syndrome: A Promising Future, Together. New York: Wiley Liss.
• Kingsley, J. (1994). Count Us In: Growing up with Down Syndrome. San Diego: Harcourt Brace.
• Pueschel, S.M., M. Sustrova, eds. (1997). Adolescents with Down Syndrome: Toward a More Fulfilling Life. Baltimore, MD: Paul H. Brookes.
• Selikowitz, M. (1997). Down Syndrome: The Facts (2nd edition ed.). Oxford, UK: Oxford University Press.CS1 maint: Extra text (link)
• Van Dyke, D.C. (1995). Medical and Surgical Care for Children with Down Syndrome. Bethesda, MD: Woodbine House.
• Zuckoff, M. (2002). Choosing Naia: A Family's Journey. New York: Beacon Press.

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