Table 2

Summary of the complications of DS

SystemComplicationsRelevant information
NeurologicalLearning disability
Neurodevelopmental disorders
Early developmental impairment varies from mild to profound in children with DS
Infantile spasms are the most common type of seizure seen
Increased incidence of ASD/ADHD
PsychologicalBehavioural difficulties and mental illnessEnquire about mood in older children
CardiacCongenital heart disease, most commonly AVSD
Mitral valve prolapse
Aortic regurgitation
Routine echocardiogram within 6 weeks of birth
Monitoring for development of cardiac failure in those with diagnosed cardiac conditions
Yearly cardiac auscultation and low threshold for cardiac referral if symptoms/signs of cardiac disease develop
Propensity for obesity
Growth retardation
Low bone mineral density
Vitamin D deficiency
Follow recommended screening protocol
Careful dietary control
Refer to appropriate growth chart
Ensure physical activity and adequate vitamin D intake supplementation if necessary
ReproductiveInfertilityDiscussing fertility is important in patients of childbearing age
HaematologicalHaematological malignancy
Acute myeloid leukaemia and acute lymphoblastic leukaemia, both usually present by 5 years of age
GutFeeding issues
Congenital GI defects
Coeliac disease
Hirschsprung disease
May need additional support with breastfeeding
Particularly duodenal atresia, other GI stenosis or atresia more common
Treat as any other child
Routine screening not recommended, low threshold for testing if symptoms present
Consider diagnosis
VisionRefractive errors
Congenital cataracts
Follow suggested screening schedule and have a low threshold to refer if concerns occur outside of this
ENTSleep apnoeaEnquire about sleep disordered breathing at every review, with an oxygen saturation study if symptoms present
HearingSensorineural hearing loss
Otitis media with effusion
Follow suggested screening protocol
ImmuneImmunodeficiencyAt risk of serious infection
Routine vaccinations, yearly influenza vaccine and one off pneumococcal polysaccharide vaccine. Some high-risk infants will qualify for RSV vaccine
RespiratoryLower respiratory tract infectionsTreat underlying conditions
MusculoskeletalCraniovertebral instabilityEnsure symptoms are checked for during every review
MaxillofacialDelayed dentitionDelayed dentition is normal for children with DS
Ensure child is registered with a dentist and parents are brushing teeth. Teeth brushing can be more difficult due to sensory sensitivities
  • ASD, autism spectrum disorder; AVSD, Atrioventricular septal defect; DS, Down’s syndrome; GI, Gastrointestinal ; RSV, Respiratory syncytial virus.