Given the unique medical needs of individuals with Down syndrome, the American Academy of Pediatrics introduced the Health Surveillance for Down Syndrome guidelines in 2003 to facilitate the early detection and treatment of associated conditions. These guidelines were revised and updated in 2011.
| Age: At birth | |
| Item | Recommendations |
| Congenital Heart Disease | All newborns should be evaluated by a pediatric cardiologist, regardless of whether a heart murmur is detected. |
| Chromosomal Testing | If translocation Down syndrome is suspected, both parents should undergo chromosomal analysis. |
| Hearing Screening | Hearing should be tested by 6 months of age using ABR (Auditory Brainstem Response) or OAE (Otoacoustic Emissions). |
| Vision Screening | Newborns should have an eye exam by 6 months to screen for cataracts, nystagmus, and strabismus. |
| Congenital Hypothyroidism | Confirm results of newborn screening for TSH (Thyroid-Stimulating Hormone). |
| Blood Testing | CBC/DC, Hct, Platelet |
| Age: Under 1 year of age | |
| Item | Recommendations |
| Thyroid Function Screening | Test TSH and free T4 every six months. If abnormalities are detected, conduct a full thyroid evaluation, including antibody testing. |
| Feeding Assessment | A pediatrician should evaluate feeding and nutritional intake. |
| Early Intervention Evaluation | A pediatric rehabilitation specialist should conduct an assessment. |
| Respiratory Issues | A pediatrician should evaluate for conditions such as tracheomalacia. |
| Age: 1 to 12 years of age | |
| Item | Recommendations |
| Nutrition and Growth | A pediatrician should assess annually. |
| Sleep Issues | A pediatrician should evaluate for sleep apnea annually, with a sleep study recommended at age 4. |
| Infections | Administer pneumococcal and influenza vaccines and monitor for immune deficiencies, such as IgG4 deficiency. |
| Cervical Spine Stability | A pediatrician should evaluate and perform the first cervical spine X-ray between ages 3 and 5. |
| Early Intervention and Learning Ability Evaluation | Assessments by pediatricians and rehabilitation specialists. Establish an individualized education plan (IEP) by age 5. |
| Ear Infections/Hearing Loss | Before age three, evaluations should occur every six months, and annually thereafter. Include ENT consultations, and monitor for middle ear infections and sinusitis during colds. |
| Periodontal Disease | Dental evaluations should be conducted every six months. |
| Vision Issues | Eye exams should be conducted annually between ages 1 and 5, and every 2 years thereafter. |
| Thyroid Function | Test TSH and free T4 every six to twelve months. If abnormalities are found, perform a full thyroid evaluation, including antibody testing. |
| Age: 12 to 18 years of age | |
| Item | Recommendations |
| Corneal Issues/Cataracts | Eye exams by an ophthalmologist every three years. |
| Hearing Loss | Annual evaluations by an ear, nose, and throat (ENT) specialist. |
| Nutrition and Growth | A pediatrician should assess annually. |
| Thyroid Function | Test TSH and free T4 every six to twelve months. If abnormalities are found, perform a full thyroid evaluation, including antibody testing. |
| Periodontal Disease | Dental evaluations should be conducted every six months. |
| Cervical Spine Stability | Neurological evaluations by a pediatrician to determine if follow-up cervical spine X-rays are needed. |
| Rehabilitation Assessment | Annual evaluations by a pediatrician to assess vocational abilities. |
| Sleep Issues | Annual evaluations by a pediatrician to assess for sleep apnea. |
| Age: Adulthood | |
| Item | Recommendations |
| Nutrition and Degeneration | Annual assessments by a physician, including screening for dementia. |
| Thyroid Function | Annual blood tests should be conducted. |
| Heart Health | Annual evaluations by a physician. |
| Cervical Spine Stability | Annual neurological evaluations by a physician to determine if follow-up cervical spine X-rays are needed. |
| Corneal Issues/Cataracts | Eye exams by an ophthalmologist every 3 years. |
| Hearing Loss | Eye exams by an ophthalmologist every 3 years. |
| Breast Examination | Annual evaluations by a physician. |
| Periodontal Disease | Dental evaluations should be conducted every six months. |
| Sleep Issues | Annual evaluations by a pediatrician to assess for sleep apnea. |
