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Down Syndrome - Description
ICD-9
758.0, Down syndrome
Down syndrome ICD9
(
74 KB)
includes ICD-9-CM codes for Down syndrome and related conditions and complications.
Description
In August 2011, the American Academy of Pediatrics’ Committee on Genetics published new guidelines for the health supervision of children with Down syndrome. The Portal team is currently updating this module to incorporate these. Until that is complete, please refer to [Bull: 2011] for the updated information.Down syndrome (DS), also commonly known as trisomy 21, is the most common genetic disorder causing mental retardation and the most frequently occurring human chromosomal syndrome. Several physical characteristics are common to individuals with DS, particularly features of the face, hands, and feet. Numerous other congenital anomalies occur with increased frequency in DS, such as endocardial cushion defects, intestinal atresias, and Hirschsprung disease. A number of acquired conditions also occur with increased frequency, such as hypothyroidism, hearing impairment, and celiac disease.
Genetics
In the majority of individuals with trisomy 21, the additional chromosome results from nondisjunction of chromosome 21 during meiosis (>90% are of maternal origin). A small percentage (4%) of DS results from a translocation, with attachment of the long arm of an extra chromosome 21 to another chromosome. An additional small percentage results from nondisjunction during mitosis of the fertilized egg resulting in mosacism.Prognosis
There is wide variability in the degree of associated cognitive disability and social adaptability. Scientific advances in health care and social advances in understanding the importance of educational and social interventions have led to substantial improvements in the likelihood of a productive life for individuals with Down syndrome. With the aid of a job coach, many adults with DS are employed in the private sector.Based on data from the West Australian birth defects registry, approximately 4% of live born infants with trisomy 21 die within the first year of life and additional 7% before 18 years of age. There is a strong correlation between congenital heart defects and death during the first 10 years of life. Pneumonia and other respiratory infections are also a primary cause for mortality. Nearly one third of individuals with trisomy 21 will live into or beyond their fifties.
Prevalence
The overall prevalence of DS is 1/732 (1.3/1000). [Canfield: 2006] An estimated 5,500 infants with DS are born annually in the United States. The risk of conceiving an infant with DS is related to maternal age – DS occurs in 1/1,600 mothers less than 25 years of age, in 1/250 mothers age 35-39 years, and in 1/40 mothers greater than 42 years of age. The majority of babies with DS, however, are born to women under the age of thirty. With the advent of universal prenatal screening, incidence of trisomy 21 may decline as has been observed in some European countries [Morris: 2009].Helpful Articles
PubMed search on Down syndrome: review articles over the last year
Davidson MA.
Primary care for children and adolescents with Down syndrome.
Pediatr Clin North Am.
2008;55(5):1099-111, xi.
PubMed abstract
Mégarbané A, Ravel A, Mircher C, Sturtz F, Grattau Y, Rethoré MO, Delabar JM, Mobley WC.
The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome.
Genet Med.
2009;11(9):611-6.
PubMed abstract
Shin M, Besser LM, Kucik JE, Lu C, Siffel C, Correa A.
Prevalence of Down syndrome among children and adolescents in 10 regions of the United States.
Pediatrics.
2009;124(6):1565-71.
PubMed abstract
Down Syndrome Module Authors
| Author: | Lisa Samson-Fang MD, 6/2008 |
| Content Last Updated: | 1/2010 |
The authors listed above are responsible for the overall Down Syndrome Module. Authors contributing to individual pages in the module are listed on those pages.
Page Bibliography
Bull MJ and the American Academy of Pediatrics Committee on Genetics.
Health Supervision for Children With Down Syndrome.
Pediatrics.
2011;128(2):393-406.
PubMed abstract / Full Text
Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS, Devine O, Petrini J, Ramadhani TA, Hobbs CA, Kirby RS.
National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001.
Birth Defects Res A Clin Mol Teratol.
2006;76(11):747-56.
PubMed abstract
Morris JK, Alberman E.
Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from
the National Down Syndrome Cytogenetic Register.
BMJ.
2009;339:b3794.
PubMed abstract / Full Text