An important part of medical care for your newborn with Down syndrome is their first pediatrician’s visit. Each pediatrician practices a little different and may elect to do things at different times depending on the specific medical needs of your newborn. The following is a list of conditions that your pediatrician will probably evaluate at your child’s first medical visit or on a subsequent visit.
No baby with Down syndrome will have all of the problems listed below. In fact, most newborns with Down syndrome are perfectly healthy. This list is just to give you an idea of what your pediatrician is looking for when she is examining your newborn.
If you are anxious about something your baby is doing or not doing, be sure and discuss this with your doctor. It is better to discuss your concerns, and get them resolved, than to worry needlessly.
Chromosome Findings
Your pediatrician should discuss your newborn's karyotype and the implications for you and your family members.
Hypotonia
Hypotonia, or low muscle tone, can cause issues with feeding and digestion so it is an issue that should be addressed early in your child’s care.Medical Evaluations and Testing
Your pediatrician should evaluate your newborn for medical problems that can be associated with Down syndrome, including:
- Feeding difficulties due to hypotonia or an enlarged tongue.
- Eye problems such as crossed eyes and cataracts. Your pediatrician may refer your child to a pediatric ophthalmologist if he has concerns about your baby’s vision.
- Hearing loss. Your infant may have had a newborn hearing screening shortly after birth. If so, your pediatrician should review the results. If not, your pediatrician may order a specialized hearing examination.
- Heart defects. Up to 50% of infants with Down syndrome will have some type of heart defect. Your pediatrician may perform an exam or may refer your baby to a pediatric cardiologist for a specialized exam and testing.
- Duodenal atresia. While there is not a screening test for this condition, your pediatrician needs to tell you about the signs and symptoms of duodenal atresia, which is a bowel deformity. Although rare in the general population (1 in 10,000), approximately 8% of fetuses with Down syndrome also have duodenal atresia.
- Blood abnormalities. Your pediatrician may order a blood test to look at your baby’s blood cells. Up to 18% of babies with Down syndrome will have a condition called polycythemia, which is an increased amount of red blood cells. This condition is not cancer.
- Congenital hypothyroidism. A small number of newborns will be born with congenital hypothyroidism, meaning the thyroid gland is under-functioning. This can be corrected by medication. All infants in the United States are screened for congenital hypothyroidism shortly after birth as part of their newborn screening test. Your pediatrician will review your infant’s newborn screening test or order another blood test to screen for congenital hypothyroidism.
Issues to be Aware of in the Future
Respiratory tract infections. Infants with Down syndrome have an increased risk of developing respiratory tract infections. Your doctor will review the signs of symptoms of a respiratory tract infection in a newborn.
Ear infections. Your doctor will review the signs and symptoms of ear infections with you and may refer you to another doctor called an otolaryngologist who specializes in disorders of the ear, nose and throat.
Your pediatrician also may recommend support groups and early intervention programs for your baby.
SOURCES:
Cassidy, Suzanne B. , Allanson, Judith E., (2001) Management of Genetic Syndromes. 1st ed. New York, NY; 2001.
Cohen, W., et al. (1996). Down Syndrome Preventive Medical Checklist. Report of The Down Syndrome Medical Interest Group. Down Syndrome Quarterly. Volume 1(2).
American Academy of Pediatrics Policy Statements. Health Supervision for Children With Down Syndrome. Pediatrics 2001 107: 442-449.
