Department of General Medicine

Screening for children with Down Syndrome

  • Children with Down syndrome may have a number of associated medical problems including:

    • Cardiac defects eg. AVSD, VSD, ASD
    • Gastrointestinal abnormalities eg. intestinal atresia, Hirschsprung’s disease, coeliac disease
    • Opthalmologic disorders eg. cataract, nystagmus, strabismus
    • Hearing difficulties, most commonly due to otitis media
    • Endocrine disorders eg. thyroid disease
    • Neurological disorders eg. atlantoaxial instability
    • Intellectual disability and behavioural problems
    • Short stature and obesity
    • Haematologic disorders eg. leukaemia
    • Sleep disorders eg. obstructive sleep apnoea

    Awareness of and routine screening for potential comorbidities is required to optimise the health of these children. Health surveillance and screening should be coordinated by a paediatrician familiar with the care of a child with Down syndrome.

    The timing of routine visits should ideally be: during the neonatal period; 3 months; 6 months; 12 months then annually.  At each visit, assessment should focus on the associated medical problems listed above as well as parental concerns, family support and education. 

    Table 1. Screening guidelines for children with Trisomy 21

    Action Birth to 1 month 1 month to 1 year 1 year to 5 years 5 years onwards
    1. Chromosomal analysis to confirm diagnosis
    2. Offer genetic counselling (If not offered prenatally)
    3. Referral to T21 support organisations such as DSA
    4. Use T21-specific growth charts to monitor weight, length, weight-for-length, HC or BMI.
    Use standard charts for BMI after 10 years
    All health maintenance visits
    5. Additional pneumococcal vaccinations (13vPCV and 23vPPV), as per
    the ATAGI recommendations
    Additional dose of
    13vPCV at 6 months
    1st dose of 23vPPV at
    4 years
    2nd dose of 23vPPV
    at least 5 years later

    6. Two doses of the COVID-19 vaccination as per the ATAGI recommendations From 6 months
    7. ECG
    8. Echocardiogram, reported by a paediatric cardiologist
    9. If poor feeding, possible aspiration; referral to paediatric speech pathology for a clinical
    swallow assessment and consideration of a radiographic assessment
    All health care visits
    10. Behavioural audiogram or tympanometry. Specialist ENT assessment if hearing loss
    demonstrated on objective audiology testing
    NBHS at birth 6 monthly until 4 years, annually thereafter
    11. FBE to rule out TMD and polycythaemia Annually thereafter unless easy bruising or bleeding, recurrent fevers or bone pain
    12. Eye examination to detect cataracts and other eye anomalies Repeat at 6 weeks
    13. Specialist ophthalmology assessments Annually 2 yearly
    14. Evaluate for gastrointestinal disorders by assessing if: Significant abdominal distension along
    with emesis, ‘Double bubble’ sign on radiography, difficulties with stooling and bowel
    movements pattern
    All health care visits
    15. Evaluate for symptomatic AAI * All health care visits
    16. Assess for symptoms of OSA Annually with overnight pulse oximetry.
    Refer for a sleep study by 4 years
    All health maintenance
    17. Surveillance of cardiovascular health through history and examination for symptoms and signs of
    CHF, or ensuring paediatric cardiology engagement and follow up in place **

    All health maintenance visits
    18. If constipated, discuss feeding and oral intake, and refer to paediatric dietician as required *** All health care visits
    19. TSH At 6 and 12 months Annually from 2 years
    20. Assess developmental progress. Early referral to ECIS All health maintenance visits
    21. Assess for externalising symptoms suggestive of ADHD, conduct, oppositional and anxiety
    disorders. Assess for internalising symptoms suggestive of anxiety and depressive disorders
    All health care visits
    22. Screen for diarrhoea, protracted constipation, slow growth, unexplained failure to thrive,
    anaemia, abdominal pain or bloating, or refractory developmental or behavioural problems.
    If present in a child on a gluten containing diet, investigate for coeliac disease with tissue
    transglutaminase IgA level and quantitative IgA level
    All health care visits
    23. Encourage at least 30 minutes of consistent exercise two to three times a week, and refer to the
    food pyramid to guide food selection for a healthy diet. Consider dietitian engagement
    All health maintenance visits

    * Including change in gait or in use of arms or hands, change in bowel or bladder function, neck pain, stiff neck, torticollis, weakness. If present, perform cervical spine radiography. If abnormal, immediate referral to paediatric neurosurgeon / Orthopaedic surgeon. Discuss the importance of cervical spine positioning precautions during any anaesthetic, surgical or radiographic procedure. Discuss the increased risk of spinal cord injury when participating in contact sports and trampolining. Provide caregivers with written information such as from the UK DSMIG – Available from:

    ** Those without CHD also require ongoing surveillance for development of heart disease, as even those with no known intracardiac disease can develop significant valvular pathology

    *** If feeding process and intake is normal, persistent constipation should prompt evaluation for hypothyroidism or gastrointestinal malformations with radiologic studies. Referral to paediatric gastroenterologist as required

                        Do once at this age                Abbreviations: T21, Trisomy 21; DSA, Down Syndrome Australia; HC, Head Circumference; BMI, Body Mass Index; ATAGI, Australian
    Technical Advisory Group on Immunisation; ECG, Electrocardiogram; ENT, Ear/Nose/Throat; NBHS, Newborn Hearing Screen; FBE,
    Full Blood Examination; TMD, Transient Myeloproliferative Disorder; AAI, Atlantoaxial instability; OSA, Obstructive Sleep Apnoea; CHF,
    Congestive Heart Failure; TSH, Thyroid Stimulating Hormone; ECIS, Early Childhood Intervention Services; ADHD, Attention Deficit
    Hyperactivity Disorder; UK DSMIG, United Kingdom Down Syndrome Medical Interest Group; CHD, Congenital Heart Disease
    Do if not done previously 
     Repeat at indicated intervals