Diagnosis and Infancy

Diagnosis, Infancy, Medical Care

Down syndrome may be diagnosed prenatally, or it may be diagnosed shortly after birth. Two types of tests for Down syndrome can be performed before a baby is born: screen tests and diagnostics tests, with the latter being more accurate than the former.

Diagnoses at birth are usually identified by the presence of certain physical traits. Because some of these physical features may be present in babies with Down syndrome, a chromosomal analysis called a karyotype is done to confirm the diagnosis.

Babies with Down syndrome often have hypotonia, or poor muscle tone. Because they have a reduced muscle tone and a protruding tongue, feeding babies with Down syndrome usually takes longer. Mothers breast-feeding infants with Down syndrome should seek advice from an expert on breast feeding to make sure the baby is getting sufficient nutrition.

Medical care for infants with Down syndrome should include the same well-baby care that other children receive during the first years of life, as well as attention to some problems that are more common in children with Down syndrome. If heart, digestive, orthopedic or other medical conditions were identified during the neonatal period, these problems should continue to be monitored.
During the early years of life, children with Down syndrome are 10-15 times more likely than other children to develop leukemia, a potentially fatal disease. These children should receive an appropriate cancer therapy, such as chemotherapy. Infants with Down syndrome are also more susceptible to transient myelodysplasia, or the defective development of the spinal cord.

For more, check out our resources and information for Expectant Parents and for New Parents of children with Down syndrome. Or contact us at contactus@dsa-gc.org

American Academy of Pediatrics Healthcare Guidelines for Children with Down syndrome (Download PDF)

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