|
Prenatal |
Birth-1 month |
1 month – 1 year |
1-5 years |
5-13 years |
13-21 years |
Counseling regarding prenatal diagnosis results |
|
|
|
|
|
|
Plan for delivery |
|
|
|
|
|
|
Referral to geneticist |
|
|
|
|
|
|
Physical exam for evidence of trisomy 21 with particular attention to cardiac, gastrointestinal and ophthalmologic examinations. |
|
|
|
|
|
|
Chromosomal analysis to confirm diagnosis |
|
|
|
|
|
|
Offer genetic counselling - discuss risk of recurrence of Down syndrome |
|
|
|
|
|
|
ECG |
|
Prior to discharge after birth |
|
|
|
|
Echocardiogram done by a paediatric cardiologist Note that serious cardiac disease can be missed on physical examination. |
|
|
|
|
|
|
Radiographic swallowing assessment if marked hypotonia, poor feeding, possible aspiration |
|
|
|
|
|
Newborn hearing screen and follow-up |
|
|
6 and 12 months |
Annuual |
Audiology and ENT assessment |
|
|
|
|
|
|
History and examination for duodenal or anorectal atresia |
|
Any visit |
|
|
If constipated, evaluate dietary intake. Consider hypotonia, hypothyroidism, GI anomalies, Hirschsprung’s disease |
|
|
Annual |
Full blood examination |
|
|
Annual |
TSH (may be part of newborn screening) |
As part of newborn screen |
|
6 and 12 months |
Annual |
Discuss atlanto-axial instability with parents and monitor for evidence of myelopathy. See |
|
Any visit |
Assess for symptoms of obstructive sleep apnoea and consider polysomnography |
|
Any visit |
Ophthalmology assessment |
|
|
Annually |
every 2 years |
every 3 years |
If congenital heart disease, monitor for signs & symptoms of congestive heart failure |
|
All visits |
Screen for symptoms of coeliac disease |
|
|
|
Annual |
Assess developmental progress. Early referral to Early Childhood Intervention Services. |
|
|
All visits |
Assess behavioural issues |
|
|
|
Establish optimal dietary and physical exercise patterns |
|
|
|
|
|
Discuss physical and psychosocial changes though puberty, need for gynaecologic care in the pubescent female, sexual development and behaviours |
|
|
|
|
|
Facilitate transition: guardianship, financial planning, behavioural problems, school placement, vocational training, independence with self-care |
|
|
|
|
|
|