| Action | Prenatal | Birth up to 1 month | 1 month up to 1 year | 1 year up to 5 years | 5 years up to 12 years | 12 years up to 21 years |
- Confirm DS diagnosis with either CVS or amniocentesis prenatally or karyotype postnatally.
| | |
- Review recurrence risk and offer the family referral to a clinical geneticist or genetic counselor.
| |
- Offer caregiver-to-caregiver and support group information to the family.
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- Use CDC DS-specific growth charts to monitor weight, length, weight-for-length, head circumference, or BMI. Use standard charts for BMI after age 10 years.
| | All health care visits |
- Order an echocardiogram, to be read by a pediatric cardiologist.
| | | |
- Feeding assessment or video study if any: marked hypotonia, underweight (<5th percentile weight-for-length or BMI), slow feeding or choking with feeds, recurrent or persistent abnormal respiratory symptoms, desaturations with feeds.
| | Any visit |
- Obtain objective hearing assessment (may be in NBS protocols), and follow EHDI protocols.
| | | Up to 6 months | | | |
- If TM cannot be visualized, refer to otolaryngologist for exam with microscope until reliable TM and tympanometry exams are possible.
| | Every 3 to 6 months | | | | |
- Car safety seat evaluation before hospital discharge.
| | | | | | |
- CBC with differential.
| | By day 3 | | | | |
- If TAM, make caregivers aware of risk/signs of leukemia (eg, easy bruising/bleeding, recurrent fevers, bone pain).
| | | | | | |
- TSH.
| | At birth (if not in NBS) | Every 5 to 7 months | Annually, and every 6 months if antithyroid antibodies ever detected |
- RSV prophylaxis based on AAP guidelines.
| | Annually | Through 2 years | | |
- Discuss cervical spine positioning for procedures and atlantoaxial stability precautions.
| | All HMV | Biennially | | |
- Assess for CAM use; discourage any unsafe CAM practices.
| | All HMV |
- Refer children to early intervention for speech, fine motor, or gross motor therapy.
| | Any visit | Up to 3 years | | | |
- If middle ear disease occurs, obtain developmentally appropriate hearing evaluation.
| | | When ear clear | After treatment |
- Rescreen hearing with developmentally appropriate methodology (BAER, behavioral, ear specific).
| | | Start at 6 months, every 6 months until established normal bilaterally by ear-specific testing, then annually |
- Refer to ophthalmologist with experience and expertise in children with disabilities.
| | | By 6 months | | | |
- CBC with differential if easy bruising or bleeding, recurrent fevers, or bone pain.
| | | Any visit |
- Assess for sleep-disordered breathing; if present, refer to clinician with expertise in pediatric sleep disorders.
| | | At least once by 6 months, then all subsequent HMV thereafter |
- Ensure child is receiving developmental therapies and family understands and is following therapy plan at home.
| | All HMV |
- CBC with differential and either (1) a combination of ferritin and CRP, or (2) a combination of serum iron and total iron binding capacity.
| | | | Annually |
- If a child has sleep problems and a ferritin less than 50 mcg/L, the pediatrician may prescribe iron supplement.
| | | | Any visit |
- Vision screening.
| | | All HMV, use developmentally appropriate criteria | Photoscreen (all HMV); if unable, refer to ophthalmologist annually | Photoscreen (all HMV); if unable, refer to ophthalmologist biennially | Visual acuity or photoscreening at all HMV, or ophthalmology determined schedule |
- If a child has myelopathic symptoms, obtain neutral C-spine plain films.
| | | | Any visit |
- Obtain polysomnogram.
| | | | Between 3 to 5 years | | |
- Prepare family for transition from early intervention to preschool.
| | | | At 30 months | | |
- Discuss sexual exploitation risks.
| | | | At least once | At least once | At least once |
- Make developmentally appropriate plans for menarche, contraception (advocate/offer LARC), and STI prevention.
| | | | | As developmentally appropriate, then all subsequent HMV |
- Discuss risk of DS if patient were to become pregnant.
| | | | | At least once | At least once |
- Assess for any developmental regression.
| | | All HMV |
- Discuss and facilitate transitions: education, work, finance, guardianship, medical care, independent living.
| | | | | All HMV starting at 10 years |
| | | Do once at this age |
| | Do if not done previously |
| | Repeat at indicated intervals |
| (Border) | See report for end point |
