Summary of the complications of DS
| System | Complications | Relevant information |
| Neurological | Learning disability Epilepsy 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 |
| Psychological | Behavioural difficulties and mental illness | Enquire about mood in older children |
| Cardiac | Congenital 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 |
| Endocrine | Hypo/hyperthyroidism 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 |
| Reproductive | Infertility | Discussing fertility is important in patients of childbearing age |
| Haematological | Haematological malignancy Thrombocytopenia | Acute myeloid leukaemia and acute lymphoblastic leukaemia, both usually present by 5 years of age |
| Gut | Feeding issues Congenital GI defects Constipation 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 |
| Vision | Refractive errors Nystagmus Congenital cataracts Glaucoma Squints | Follow suggested screening schedule and have a low threshold to refer if concerns occur outside of this |
| ENT | Sleep apnoea | Enquire about sleep disordered breathing at every review, with an oxygen saturation study if symptoms present |
| Hearing | Sensorineural hearing loss Otitis media with effusion | Follow suggested screening protocol |
| Immune | Immunodeficiency | At risk of serious infection Routine vaccinations, yearly influenza vaccine and one off pneumococcal polysaccharide vaccine. Some high-risk infants will qualify for RSV vaccine |
| Respiratory | Lower respiratory tract infections | Treat underlying conditions |
| Musculoskeletal | Craniovertebral instability | Ensure symptoms are checked for during every review |
| Maxillofacial | Delayed dentition | Delayed 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.