Down Syndrome

Examination

• Cardiac: Assess for congenital heart defects (e.g., atrioventricular septal defect, VSD, ASD)

• Gastrointestinal: Check for duodenal atresia, Hirschsprung’s disease, gastro-oesophageal reflux

• Neurology: Hypotonia, delayed motor milestones, intellectual disability

• Orthopaedics: Look for signs of atlantoaxial instability (neck pain, weakness, gait disturbances, hyperreflexia)

• Growth: Use Down syndrome-specific growth charts to assess development

____________________________________

Monitoring

Hearing

• Annual screening from birth to 5 years

• 2-yearly screening from 5–18 years

• High risk of conductive hearing loss due to recurrent otitis media

Vision

• Follow the same schedule as hearing screening

• Assess for cataracts, refractive errors, strabismus, nystagmus

Thyroid (TFTs)

• Annual screening for life (increased risk of congenital hypothyroidism and autoimmune thyroid disease)

Haematology

• Monitor for signs of leukaemia (bruising, pallor, fatigue, hepatosplenomegaly)

• Higher risk of transient abnormal myelopoiesis in neonates

Other Considerations

• Monitor feeding and growth (increased risk of feeding difficulties, constipation, gastro-oesophageal reflux)

• Check for coeliac disease (more common in Down syndrome, screen if symptoms develop)

____________________________________

Management

Referrals

• Cardiology: Echocardiogram at birth to detect congenital heart defects

• Gastroenterology: For structural anomalies, persistent feeding issues, coeliac screening

• Orthopaedics: If atlantoaxial instability suspected

• Otolaryngology (ENT): If recurrent ear infections or suspected hearing loss

Allied Health Support

• Early intervention: Speech therapy, occupational therapy, physiotherapy to support development

• Psychology: For behavioural concerns, emotional regulation, and learning support

Support Services

• Down Syndrome Association: Advocacy, education, and support networks for families

• Centrelink services: Disability support, funding assistance for therapies

Lifestyle

• Healthy diet and regular exercise to reduce obesity risk (common due to hypotonia and reduced activity levels)

• Routine vaccinations with consideration for additional vaccines (e.g., pneumococcal, influenza, RSV in infancy)

____________________________________

Additional Notes

• Infection susceptibility: Higher risk of ear infections, pneumonia, skin conditions (e.g., eczema, seborrhoeic dermatitis)

• Reproductive health: Reduced fertility, hypogonadism common in adults