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Screening for children with Down Syndrome

  • Children with Down syndrome may have a number of associated medical problems including:

    • Cardiac defects eg. AVSD, VSD, ASD
    • Gastrointestinal abnormalities eg. intestinal atresia, Hirschsprung’s disease, coeliac disease
    • Opthalmologic disorders eg. cataract, nystagmus, strabismus
    • Hearing difficulties, most commonly due to otitis media
    • Endocrine disorders eg. thyroid disease
    • Neurological disorders eg. atlantoaxial instability
    • Intellectual disability and behavioural problems
    • Short stature and obesity
    • Haematologic disorders eg. leukaemia
    • Sleep disorders eg. obstructive sleep apnoea

    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. Routine screening for children with Down Syndrome at different ages.

      Prenatal Birth-1 month 1 month – 1 year 1-5 years 5-13 years 13-21 years
    Counseling regarding prenatal diagnosis results            
    Plan for delivery            
    Referral to geneticist            
    Physical exam for evidence of trisomy 21 with particular attention to cardiac, gastrointestinal and ophthalmologic examinations.            
    Chromosomal analysis to confirm diagnosis            
    Offer genetic counselling - discuss risk of recurrence of Down syndrome            
    ECG   Prior to discharge after birth        
    Echocardiogram done by a paediatric cardiologist
    Note that serious cardiac disease can be missed on physical examination.
    Radiographic swallowing assessment if marked hypotonia, poor feeding, possible aspiration           
    Newborn hearing screen and follow-up     6 and 12 months Annuual
    Audiology and ENT assessment            
    History and examination for duodenal or anorectal atresia   Any visit    
    If constipated, evaluate dietary intake. Consider hypotonia, hypothyroidism, GI anomalies, Hirschsprung’s disease     Annual
    Full blood examination     Annual
    TSH (may be part of newborn screening)  As part of newborn screen   6 and 12 months Annual
    Discuss atlanto-axial instability with parents and monitor for evidence of myelopathy. See        Any visit
    Assess for symptoms of obstructive sleep apnoea and consider polysomnography        Any visit
    Ophthalmology assessment     Annually every 2 years every 3 years
    If congenital heart disease, monitor for signs & symptoms of congestive heart failure   All visits
    Screen for symptoms of coeliac disease       Annual
    Assess developmental progress. Early referral to Early Childhood Intervention Services.     All visits
    Assess behavioural issues      
    Establish optimal dietary and physical exercise patterns          
    Discuss physical and psychosocial changes though puberty, need for gynaecologic care in the pubescent female, sexual development and behaviours          
    Facilitate transition: guardianship, financial planning, behavioural problems, school placement, vocational training, independence with self-care            

    Adapted from Appendix 1 Bull MJ et al. Health supervision for children with Down syndrome. Pediatrics 2011; 128