Health Indicator Report of Birth Defects: Down Syndrome
Down syndrome is the most frequent genetic condition of childhood associated with mental retardation. Studying the prevalence and trends of Down syndrome in Utah helps assess the impact of this condition, plan for the resources needed to serve affected people and families, and estimate future needs. This information can also help monitor population-based survival and the level of preventive care provided to people with Down syndrome. The Utah Birth Defect Network (UBDN) has tracked Down syndrome since 1995. The diagnosis of Down syndrome is confirmed with cytogenetic testing that shows the additional chromosome 21 (or piece of 21) that is diagnostic for this condition. Children with Down syndrome are frequently born with additional structural malformations that can significantly affect their health and require surgical and medical treatment. The most common malformations occurring in children with Down syndrome are congenital heart defects (50%). The American Academy of Pediatrics (AAP) has developed recommendations for health, supervision, and anticipatory guidance for infants and children with Down syndrome (http://pediatrics.aappublications.org/content/128/2/393.full.html). The goal is to prevent complications and improve long-term health and survival by early identification of associated conditions and risk factors for morbidity. For example, the Academy recommends that all babies with Down syndrome have a comprehensive evaluation in the first months of life, including an echocardiogram, an eye exam, and so on. With better clinical care and social support, people with Down syndrome are living longer. With appropriate care, people with Down syndrome can expect to live long lives, with varying degrees of independence in the community. The main known risk factor for Down syndrome is advanced maternal age. Awareness of this association can help us to understand the prevalence of Down syndrome in the population, project the future number of affected births based on the trends in age-specific birth rates, and provide a basis for counseling.
Down Syndrome Overall Birth Prevalence, Utah, 1995-2009
- Utah Birth Defect Network
- Utah Department of Health
DefinitionNumber of cases of Down syndrome per 10,000 births.
NumeratorNumber of cases of Down syndrome among live births and stillbirths among women residing in Utah.
DenominatorNumber of live births and stillbirths among women residing in Utah.
Healthy People Objective MICH-2:Reduce the 1-year mortality rate for infants with Down syndrome
U.S. Target: 43.7 deaths within the first year of life per 1,000 infants with Down syndrome
How Are We Doing?The UBDN reports a prevalence of Down syndrome in Utah of 15.1 per 10,000 births, or 1 in 660 births, for infants born from 1995 to 2011. The prevalence has remained stable since the UBDN began tracking Down syndrome in 1995. Based on these figures, approximately 75 affected pregnancies occur every year in Utah, with a cumulative total of 1,269 cases from 1995 through 2011. The prevalence is higher among women 35 years of age or older; this too has been constant over time. In Utah, women 35 years of age or older contribute to 9.3% of all births but experience 41.5% of all pregnancies with Down syndrome. To date, there is no evidence to suggest that the prevalence of Down syndrome is increased within any particular racial group. Overall, the first year mortality among Utah infants born from 1995 through 2011 and diagnosed with Down syndrome was 50 per 1,000 infants with Down syndrome. This is slightly higher than the target of 43.7 per 1,000 set by the Healthy People 2020 objectives.
How Do We Compare With the U.S.?Because Down syndrome is determined by a chromosomal condition whose risk seems to depend primarily on maternal age, the occurrence of Down syndrome in different populations reflect the population's maternal age distribution, with little variation due to other factors. The overall prevalence of Down syndrome in Utah (15.1 per 10,000 births for 2003 through 2007) is similar to that observed in the Atlanta registry in Georgia (14.5 per 10,000 births for 2003-2007). Such comparison is meaningful because the Atlanta registry (MACDP), which is run by the Centers for Disease Control and Prevention, uses tracking methods similar to those in the UBDN. The prevalence among women 35 years of age or older (2003-2007) appears to be higher in Utah (67.3 per 10,000 women of that age) than in Atlanta (43 per 10,000). The higher prevalence could depend on the wider age distribution at birth in Utah. Because risk for Down syndrome increases greatly for every year above 35 and particularly above 40, even small differences between Utah and Atlanta with respect to the number of pregnancies occurring in these higher maternal age groups could considerably affect the observed occurrence rates.
What Is Being Done?The American Academy of Pediatrics has developed specific recommendations for Down syndrome children (http://pediatrics.aappublications.org/content/128/2/393.full.html), from birth through adulthood. Specific services for families of affected children from birth to three years of age are provided in Utah by the Baby Watch Early Intervention Program, Utah Department of Health. Services include child health assessment; service coordination among providers, programs, and agencies; occupational and physical therapy; and speech and language therapy. Information on these services is available at www.utahbabywatch.org. A further resource is the Utah Medical Home Portal, which is a project designed to provide information, tools, and resources for primary care physicians to enhance their ability to care for children with special health care needs. Information on the Utah Medical Home Portal is available at their web site: www.medicalhomeportal.org. The CDC conducted a study of Down syndrome prevalence and survival estimates in 10 regions of the United States during 1979 through 2003 (Shin et al., 2009). The study concluded that estimates varied according to region, race/ethnicity, and gender, suggesting possible variation in prevalence at birth or in survival rates on the basis of these characteristics.
Available ServicesDown Syndrome Clinic Primary Children's Hospital 100 N Mario Capecchi Drive Salt Lake City, Utah 84113 Phone (801) 662-1600 Children with Special Health Care Needs 44 N Mario Capecchi Drive PO Box 144610 Salt Lake City, UT 84114-4610 Phone (801) 584-8284 Toll Free (800) 829-8200 http://health.utah.gov/cshcn CSHCN provides services for children who have or are at risk for a chronic physical, developmental, behavioral, or emotional condition. Baby Watch Early Intervention Services Utah Department of Health 44 N Mario Capecchi Drive PO Box 144720 Salt Lake City, Utah 84114-4720 (801) 584-8226 (800) 961-4226 www.utahbabywatch.org Statewide EI services are available for families of affected children from birth to three years of age that include child health assessment, service coordination among providers, occupational and physical therapy, and speech and language therapy.
Page Content Updated On 11/18/2014, Published on 07/23/2015