The National Down Syndrome Society (NDSS) promotes the utilization of Health Care Guidelines for Individuals with Down Syndrome. These guidelines reflect current standards and practices for the management of Down syndrome in the United States. NDSS emphasizes that children with Down syndrome (DS) need the usual health care screening procedures, immunizations, and preventive health measures that are used for the pediatric population at large. NDSS also recognizes that youngsters with DS have some unique risks as well as different levels of risks for particular diseases and disorders. The health guidelines provide a framework to detect and manage DS and asscociated disorders.

Please visit the NDSS site for more details on Health Care Guidelines for Individuals with Down Syndrome

• Prenatal genetic testing is recommended following full discussion of the risks & benefits of testing
  • Counseling and support for the family is recommended in the event that genetic abnormalities are identified by testing.
  • Prenatal heart testing if Down syndrome is suspected due to increased rate for cardiac abnormalities.
• Birth to 1 month a complete physical exam to assess physical status and identify disorders associated with DS
  • Genetic testing of the neonate is not required if previous testing has confirmed DS.
    • Rapid aneuploidy diagnosis (RAD) by fluorescence in situ hybridization (FISH) and and full karyotyping is recommended for unconfirmed or suspected cases of neonatal Down syndrome. FISH can detect common aneuploidies usually within 48 hous. Full karyotyping will take 3-5 days.
    • Ongoing access to counseling for parents and caregivers as well as identification of resources for early intervention.
  • Feeding problems due to decreased muscle tone and coordination may require additional parental support and training.
  • Echocardiogram to identify cardiac issues should be completed in this period. Evidence of cardiac defects should be addressed early. Tachypnea and cyanosis are serious symptoms.
  • Vision and hearing should be checked by specialists (ophthalmologist and otolaryngologist).
  • Endocrine function should be evaluated for hypothyroidism and diabetes.
  • GI function should be assessed for abnormalities: duodenal obstruction, Hirschsprung disease, imperforate anus, tracheoesophageal fistula, reflux.
  • CBC a number of hematologic abnormalities are more common in children with DS.
• 1-12 months
  • Regular well visit (check-ups) with pediatrician to monitor growth/development and administer vaccines.
  • Ophthalmologist at birth and again at 1 year.
  • Otolaryngologist every 6 months.
  • Thyroid stimulating hormone (TSH) assay at birth, six months and one year.
  • Ongoing access to social/developmental services as well as genetic risk counseling for parents.
  • Continued follow up for any known conditions.
• 1-5 years
  • Regular well visit (check-ups) with pediatrician to monitor growth/development.
  • Immunizations schedule for children with DS (including Flu) is similar to all other children.
  • Cardiac health should be monitored.
  • DS increases risk of hearling loss with middle ear infection.
  • Regular vision evalulations.
  • Labs - TSH and CBC every year.
  • DS can increase the risk of GI disorders including duodenal stricture, Hirschspung's and celiac disease.
  • DS can increase the risk of neck and spine instability. Problems are usually detectable without x-ray.
  • DS can increase the risk of sleep apnea. Sleep study is recommended before age 4 years.
  • DS can increase risk of dental abnormalities.
  • Learning and language delays are common.
  • Behavioral problems may be associated communication delays, ADHD, autism or abuse.
• 5-13 years
  • Regular well visit (check-ups) with pediatrician to monitor growth/development.
  • Immunizations schedule for children with DS (including Flu) is similar to all other children.
  • Cardiac health should be monitored.
  • DS increases risk of hearling loss with middle ear infection.
  • Regular vision evalulations.
  • Labs - TSH and CBC every year.
  • DS can increase the risk of GI disorders including duodenal stricture, Hirschspung's and celiac disease.
  • DS can increase the risk of neck and spine instability. Problems are usually detectable without x-ray.
  • DS can increase the risk of sleep apnea.
  • Independence, socialization and puberty can present challanges that should be discussed with caseworker and physician trained in applied behavioral management techniques.
• 13-21 years
  • Regular well visit (check-ups) with pediatrician to monitor growth/development.
  • Immunizations schedule for children with DS (including Flu) is similar to all other children.
  • Cardiac health should be monitored.
  • DS increases risk of hearling loss with middle ear infection.
  • Regular vision evalulations.
  • Labs - TSH and CBC every year.
  • DS can increase the risk of GI disorders including duodenal stricture, Hirschspung's and celiac disease.
  • DS can increase the risk of neck and spine instability. Problems are usually detectable without x-ray.
  • DS can increase the risk of sleep apnea.
  • Independence, socialization and puberty can present challanges that should be discussed with caseworker and physician trained in applied behavioral management techniques.
  • Sexuality informed by education appropriate to development and intellectual capacity can help promote healthy relationships, prevent unwanted pregnancy and disease.
  • DS is associated with early aging and increased risk for dementia and progressive neurodegeneration similar to Alzheimer's disease by age 40 or 50.