Down Syndrome – Diagnosis from Parents ’ Perspectives . A Look at Cardiac S creening

1. Down Syndrome – Diagnosis from Parents’ Perspectives.A Look at Cardiac Screening Dr Emma Pascall, MBChB, BSc Foundation Year One – Ashford and St Peter’s NHS Trust Penny Green, Professor Robert Tulloh

2. What this talk will include • Introduction • Current guidelines • Survey • Indication • Methodology • Results • Discussion • Limitations • Future suggestions

3. Introduction • 40 to 60% of patients have congenital heart defects1 • 30-40% of these are atrioventricularseptal defects (AVSDs)1,2,3 • Early diagnosis and treatment helps to prevent the complication of pulmonary vascular disease (PVD) 4,5,6,7,8 • Some severe congenital heart disease still presents too late 3 • Irreversible PVD more likely to develop quickly in children with Down’s syndrome and AVSD 7,8,9 • Ideally surgery before 6 months, some studies say 4 months

4. Guidelines4 5.1 Babies diagnosed with Down’s syndrome in the early neonatal period: • Shortly after diagnosis clinical examination and ECG • Abnormal clinical signs or ECG abnormality (particuarly a QRS axis) - referred and seen within 2 weeks of birth by a paediatric cardiologist and for an echocardiogram • If no abnormalities – referred and seen within 6 weeks of birth by a paediatric cardiologist and for an echocardiogram 5.2 Babies diagnosed later in the neonatal period: • Immediate ECG and clinical examination and accelerated referral to paediatric cardiologist so they achieve the above 6 week deadline 5.3 Babies with a prenatal diagnosis of Down’s syndrome – in the absence of evidence of sensitivity of fetal echocardiography, still follow the early neonatal pathway (5.4 Older children who have never had an echocardiogram: • No symptoms or clinical signs and normal ECG – routine referral to paediatric cardiologist. • Symptomatic and / or have abnormal clinical signs or ECG – referral urgently to paediatric cardiologist

5. When was the baby diagnosed with Down Syndrome? Early in the neonatal period or prenatal diagnosis Later in the neonatal period Clinical examination and ECG Immediate clinical examination and ECG Abnormal clinical signs or ECG abnormality No abnormalities Accelerated referral so seen within 6 weeks Referred and seen with 2 weeks Referred and seen within 6 weeks

6. Survey • Aimed to review if parents thought these standards were met in their children with Down syndrome • Indication? • Parents were invited to complete a survey relating to the diagnosis of Down syndrome and any cardiac manifestations • Shared on the Down Syndrome Heart Group and Facebook

7. Results • 137 responses • 16% diagnosed antenatally • 75% diagnosed within one week of birth • 8% diagnosed after 1 week (1% - did not answer)

8. The time of diagnosis of Down syndrome in all responders

9. Results • 71% of babies were reported to have a cardiac anomaly • 25% of these were AVSDs

11. Results • Antenatal diagnosis - 32% had immediate ECG and examination. • All of these met the 2 and 6 week guideline • Diagnosed within 1 week - 66% had an ECG and examination • This group largely met the referral guidelines (70% and 96% for 2 and 6 weeks respectively) • Diagnosed after 1 week - 91% had immediate ECG and examination • 80% seen within 6 weeks

12. Discussion • Akin to other research, the majority of patients had a AVSD • Most diagnosed postnatally • Guidelines largely being met but some areas for improvement • For antenatal diagnoses, only 32% of responders reported having an immediate ECG and clinical examination • However, 45.4% of responders either were unsure or did not answer • Is this due to parental understanding? • All met the guidelines for follow up so suggests this

13. Discussion Diagnosed early in the neonatal period: • Slight improvement in the number with clinical examinations and ECGs • Still, one fifth reported to have not • Most meet the 6 week deadline = 96% • Fewer meet the 2 weeks deadline = 70%

14. Discussion Diagnosed later in the neonatal period: • Mostly met the guidelines • Immediate exmaination and ECG = 91% • Seen within 6 weeks = 80% • Majority of the responders fell into this category

15. Limitations • Qualitative • Retrospective • Focused study sample • Parental perception – uncertainty

16. Future suggestions • Education • Leaflets? • Publicising the website more? • Timeline of what should happen? • Specialist nurses

17. Any questions?

18. References • 1 Frid C, Drott P, Lundell B, Rasmussen F, Anneren G. Mortality in Down's syndrome in relation to congenital malformations. J Intellect Disabil Res 1999; 43(Pt 3):234-41. • 2 Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population- based registry. Am J Med Genet 1998; 77(5):431-8. • 3 Tubman TR, Shields MD, Craig BG, Mulholland HC, Nevin NC. Congenital heart disease in Down's syndrome: two year prospective early screening study. BMJ 1991; 302(6790):1425-7. • 4 Down Syndrome Medical Interest Group. Basic Medical Surveillance Essentials For People With Down’s Syndrome. Cardiac Disease: Congenital and Acquired. Revised 2007. http://www.dsmig.org.uk/library/articles/guideline-cardiac-5.pdf. (accessed July 2007).