Down Syndrome : Newborns, Infants and Preschool Children

by National Institute of Health

(Page 3 of 4)

When parents are told that their newborn baby has Down syndrome, it is not unusual for them to have feelings of sadness and disappointment. Many parents report that at the time their child is first diagnosed with Down syndrome and during the weeks that follow, they feel overwhelmed by feelings of loss and anxiety. While caring for a child with Down syndrome frequently requires more time and energy, parents of newborn children with Down syndrome should seek the advice of a knowledgeable pediatrician and/or the many Down syndrome support groups and organizations available.

The doctor making the initial diagnosis of Down syndrome has no way of knowing the intellectual or physical capabilities this child, or any other child, may have. Children and adults with Down syndrome have a wide range of abilities. A person with Down syndrome may be very healthy or they may present unusual and demanding medical and social problems at virtually every stage of life. However, every person with Down syndrome is a unique individual, and not all people with Down syndrome will develop all the medical disorders discussed below.

Down Syndrome and Associated Medical Disorders

During the first days and months of life, some disorders may be immediately diagnosed. Congenital hypothyroidism, characterized by a reduced basal metabolism, an enlargement of the thyroid gland, and disturbances in the autonomic nervous system, occurs slightly more frequently in babies with Down syndrome. A routine blood test for hypothyroidism that is performed on newborns will detect this condition if present.

Several other well-known medical conditions, including hearing loss, congenital heart disease, and vision disorders, are more prevalent among those with Down syndrome.

Recent studies indicate that 66 to 89% of children with Down syndrome have a hearing loss of greater than 15 to 20 decibels in at least one ear, due to the fact that the external ear and the bones of the middle and inner ear may develop differently in children with Down syndrome. Many hearing problems can be corrected. But, because of the high prevalence of hearing loss in children with Down syndrome, an objective measure of hearing should be taken to establish hearing status. In addition to hearing disorders, visual problems also may be present early in life. Cataracts occur in approximately 3% of children with Down syndrome, but can be surgically removed.

Approximately half of the children with Down syndrome have congenital heart disease and associated early onset of pulmonary hypertension, or high blood pressure in the lungs. Echocardiography may be indicated to identify any congenital heart disease. If the defects have been identified before the onset of pulmonary hypertension, surgery has provided favorable results.

Seizure disorders, though less prevalent than some of the other associated medical conditions, still affect between 5 and 13% of individuals with Down syndrome, a 10-fold greater incidence than in the general population. There is an unusually high incidence of infantile spasms or seizures in children less than one year of age, some of which are precipitated by neonatal complications and infections and cardiovascular disease. However, these seizures can be treated with anti-epileptic drugs.

The incidence and severity of these associated medical ailments will vary in babies with Down syndrome and some may require surgery.

Newborns

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.

Hypotonia may affect the muscles of the digestive system, in which case constipation may be a problem. Atlantoaxial instability, a malformation of the upper part of the spine located under the base of the skull, is present in some individuals with Down syndrome. This condition can cause spinal cord compression if it is not treated properly.

Infants and Preschool Children

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.

Compared to the general population, individuals with Down syndrome have a 12-fold higher mortality rate from infectious diseases, if these infections are left untreated and unmonitored. These infections are due to abnormalities in their immune systems, usually the t-cell and antibody-mediated immunity functions that fight off infections. Children with Down syndrome are also more likely to develop chronic respiratory infections, middle ear infections, and recurrent tonsillitis. In addition, there is a 62-fold higher incidence of pneumonia in children with Down syndrome than in the general population.

Children with Down syndrome may be developmentally delayed. A child with Down syndrome is often slow to turn over, sit, stand, and respond. This may be related to the child's poor muscle tone. Development of speech and language abilities may take longer than expected and may not occur as fully as parents would like. However, children with Down syndrome do develop the communication skills they need.

Parents of other children with Down syndrome are often valuable sources of information and support. Parents should keep in mind that children with Down syndrome have a wide range of abilities and talents, and each child develops at his or her own particular pace. It may take children with Down syndrome longer than other children to reach develop mental milestones, but many of these milestones will eventually be met. Parents should make a concerted effort not to compare the developmental progress of a child with Down syndrome to the progress of other siblings or even to other children with Down syndrome.

About the Author

NIH is the nation's medical research agency - making important medical discoveries that improve health and save lives. The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the primary Federal agency for conducting and supporting medical research.