Aim Children with Down Syndrome are a higher risk of developing potentially treatable conditions. The Down Syndrome medical interest group (DSMIG) have set out a minimum standard of basic medical surveillance. A guideline for health surveillance had been developed within the health board to improve awareness and compliance to health surveillance. The aim of this study was to audit current practice for surveillance of Down Syndrome across the trust and compare to guidelines from DSMIG.
Method The congenital anomaly register and information service for Wales was used to gain the details of all children in the health board with Down Syndrome. A Proforma was developed from the DSMIG guidance and completed using case notes and clinical work station.
Results A total of 86 patients with Down Syndrome were identified with 38 females aged up to 18 years. 70% of cases were diagnosed postnatally. 86% of these patients were being followed up by community Paediatricians with 88% having regular follow. The guideline for health surveillance was in 15% of case notes.
The most common associated condition was congenital heart disease (37%) and an AVSD was the most common cardiac anomaly. 32% of children had hearing loss and 22% of children had a behavioural disorder.
Conclusion Minimal standards for medical surveillance are not being met despite the guideline for Down Syndrome being an excellent prompt. It is our responsibility to ensure that children with Down Syndrome are monitored regularly to ensure that clinical problems are diagnosed early enabling prompt diagnosis and treatment.