In this section
Children with Down syndrome may have a number of associated medical problems including:
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
* 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: https://www.downs-syndrome.org.uk/wp-content/uploads/2021/07/20.07.21_Neck-instability-v9-1-l.pdf
** 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