Management of Babies with Down Syndrome

 

Reviewed by Carl Kuschel, Salim Aftimos (Genetics), and Rosemary Marks (Developmental Paediatrics)
May
2007
Clinical Guidelines Back Newborn Services Home Page
Background Assessment Investigations
Referrals Other Issues References

Background

Assessment in the Neonatal Period

Investigations

Karyotype

  • To confirm the clinical diagnosis and to provide information that will help with counselling.
  • In most instances, a standard karyotype will be analysed within 5 days.
    • An urgent FISH specifically for Trisomy 21 is indicated only in exceptional circumstances.

Cardiac assessment

  • Chest radiograph
  • ECG
  • Referral to Paediatric Cardiology
  • Approximately 40% of infants will have congenital cardiac disease.
    • The most common lesions are endocardial cushion defects, ventricular septal defects, patent ductus arteriosus, and atrial septal defects.

Full blood count

  • Haematological problems are common in Down Syndrome. 3
  • Thrombocytopenia (<100) occurs in up to 28% of infants. The thrombocytopenia is usually mild (>40) and transient (2-3 weeks).
  • Polycythaemia is common.
  • Transient myeloproliferative disorders (leukaemoid reactions) may occur in the newborn period. Infants with Trisomy 21 are 10-20x more likely to develop leukaemia.

Thyroid function tests

  • Newborn Metabolic Screening card is sufficient.
  • Approximately 1% of infants with Down Syndrome will have congenital hypothyroidism.
  • If the infant has clinical signs suspicious of hypothyroidism (for example, prolonged jaundice), a T4 and TSH should be requested.
  • 15% of Down Syndrome individuals will develop hypothyroidism.

 Referrals

Referral to paediatrician

Central Auckland Developmental paediatrics (Starship).
  • Paediatricians from this service will often meet with the family prior to discharge.
  • The specialist or registrar/NSANP should contact either Dr Rosemary Marks or the team support administrator (Ext.6931), and complete a written referral (please fax to Ext.5271).
North Shore General Paediatrics, North Shore Hospital.
West Auckland (west of Avondale) General Paediatrics, Waitakere Hospital (West Kids).
South Auckland (east of Panmure, south of Otahuhu) General Paediatrics, Middlemore (KidzFirst).
Elsewhere in New Zealand Local general paediatric service.

Visiting neurodevelopmental therapist

Central Auckland Central Auckland CDS.
North Shore North Shore and Rodney Child CDS.
West Auckland Waitakere CDS.
South Auckland South Auckland CDS.
Elsewhere in New Zealand May be appropriate to ask the local paediatric service to organise referral.

Social worker

Speech language therapy or lactation consultant, as appropriate.

Audiology (out-patient)

Ophthalmology clinic, Green Lane Clinical Centre.

General practitioner

Support for Parents

Other issues

Genetic Counselling

Other Neonatal Health Issues

References

1 The clinical assessment and management of children, young people and adults with Down Syndrome: recommended clinical practice: New Zealand Ministry of Health, 2001.
2 Rosen T, D’Alton ME. Down Syndrome screening in the first and second trimesters: what do the data show? Semin Perinatol 2005;29:367-75.
3 Christensen RD. Hematological problems in the neonate. 1st ed. Phil: W.B. Saunders Co, 2000.