Birth to One Month
Child’s Age: Birth to One Month Old
Complete physical examination
If the diagnosis of Down syndrome was made before birth or suspected after birth, a complete physical examination should be done to confirm the known physical features and to check for any possible associated conditions.
If prenatal testing gave a diagnosis of Down syndrome and if the exam after birth agrees, then no further testing is probably needed in the newborn period. If the physical examination after birth raises the possibility of Down syndrome, testing by rapid (FISH) confirmation and a complete chromosome analysis are needed. The rapid analysis results are typically available within 48 hours, whereas the complete analysis might take 3‐5 days for the results. A complete chromosome analysis is needed to provide full information, but to ensure prompt results, both should be obtained unless the complete analysis can be done as quickly as the rapid analysis.
The prenatal or newborn diagnosis of Down syndrome can cause many concerns for parents. Talking with a medical genetics team (medical geneticist and genetic counselor) or others recommended by your child’s doctor may be helpful.
Infants with Down syndrome sometimes have low muscle control, which can cause feeding problems. For this reason, infants should be closely watched for slow feeding or choking and for good weight gain. Breastfeeding is strongly encouraged, but extra attention may need to be given to positioning and to keeping the baby awake or alert.
An echocardiogram (an ultrasound picture of the heart) is needed to check for any evidence of heart disease. This should be done even if a prenatal echocardiogram was done. If issues exist, it is very important to act early. Breathing that is too fast or cyanosis (a bluish color of the skin) are signs for possible concern.
Hearing and Vision
Infants with Down syndrome are at risk for sensory issues, such as eye problems leading to vision loss or ear problems leading to hearing loss. It is important to have both vision and hearing checked by specialists (ophthalmology and ENT).
Thyroid hormone levels can be too low in newborns and need to be checked (a TSH test). Thyroid hormone imbalance can cause a variety of problems that might not be easy to detect without a blood test.
After birth, white and red blood counts can be unusually high in infants with Down syndrome. These blood counts need to be checked.
Stomach or Bowel Problems (Reflux, Constipation, Blockages)
Intestinal issues can occur. Spitting up, stomach swelling, or an abnormal stool pattern can be signs that there is an issue.
Because of an increased risk of infections (especially respiratory infections), infants should be protected from any unnecessary exposures to sick siblings, relatives, or others. It is also recommended to get checked quickly when any infection is suspected.
It is not too early in the first month of life to start to look for the developmental services (sometimes called “Early Intervention”) that will be very important in early childhood.
Families of children with Down syndrome will need multiple resources, and now is a good time to start lining them up. Such resources might include specialized medical care, early intervention, physical therapy, and family counseling services.