About Down Syndrome National Register

Down Syndrome National Register

Down Syndrome (DS) or trisomy 21 is one of the most common congenital genetic conditions. Ireland is thought to have the highest incidence of DS in the world.

The National Register for Children with Down Syndrome was established in 2015 to increase our knowledge about Down Syndrome in Irish children with the ultimate aim of improving the quality of care and quality of life for children with DS and their families. The unique prospective National Register for DS was developed in 2015, with extensive collaborations.

The DS register is a key infrastructure to provide reliable data to inform clinical care, support audit, research and enhance the quality of life for children with DS and their families. This prospective national Register will define the epidemiology of Down Syndrome in Ireland and provide data to inform appropriate healthcare planning, clinical audit, and enable monitoring of the implementation of the medical management guidelines for those with DS (MMG) developed by our group.

These data, including the number of children born with Down syndrome in Ireland each year, the area in which they live etc ,will enable more informed decision making and optimise resource allocation leading to better clinical outcomes.

The Register will also expand our knowledge of DS. It will help ascertain if certain problems and illnesses are more prevalent or more severe in children with Down syndrome. It will provide more accurate evidence based information for counselling families and may enable screening programmes or early intervention to prevent avoidable secondary disability which has been so successful for those with DS who develop thyroid disease for example.

The immediate research plan is to define incidence, demographics and co-morbidities in newborns with DS. The longitudinal arm will explore the natural history of co-morbidities, complications, access to and health care utilisation etc.

In addition Down Syndrome provides an important model to evaluate immune function. Through defining the epidemiology and systematically studying the issues faced by children with DS and their families the DS Register will enhance the health and well being of Children with Down syndrome in Ireland.

The DS Register is governed by a Steering Group with a broad expertise and includes parent representation. The Register is hosted by Tallaght University Hospital and funded by the NCHF.