Professor Ina Knerr
Consultant Metabolic Paediatrician, National Centre for Inherited Metabolic Disorders (NCIMD), Children’s Health Ireland (CHI) at Temple Street
Professor Ahmad A. Monavari
Consultant Metabolic Paediatrician, National Centre for Inherited Metabolic Disorders (NCIMD), Children’s Health Ireland (CHI) at Temple Street
The National Newborn Bloodspot Screening Programme (NNBSP) began in the 1960s. Since then, it has proven to be a great success.
They screen for Phenylketonuria, homocystinuria, maple syrup urine disease, galactosaemia, glutaric aciduria and MCADD – inherited metabolic disorders (IMDs). NNBSP in Ireland are currently only identifies these six IMDs, congenital hypothyroidism and cystic fibrosis.
One of the most successful screening programmes in medicine and public health is NNBSP. IMDs in Ireland has a higher incidence rate than most European countries.
Undiagnosed, many IMDs can be fatal
NNBSP’s goal for IMDs is particularly to achieve early diagnosis and treatment. Children morbidity and mortality rates lower due to this. However, many IMDs carry, unfortunately, a high fatality rate if left undiagnosed or contribute to the burden of childhood disease.
With further advances in medicine, there are better diagnostic and monitoring tools available. The outcomes of NNBSP are overall reassuring, with new emerging therapies for IMDS, although these disorders cannot be cured.
We need to be screening for more, treatable disorders
Expansion of NNBSP to include other treatable IMDs (in line with other developed countries) is required to avoid preventable morbidity and mortality among affected children. Evaluation and implementation of NNBSP protocols and guidelines together with collecting clinical data is warranted to minimise disease burden. In other words, to ensure the best possible outcome and health services use.
In recent years, clinical services and workload at the National Centre for Inherited Metabolic Disorders (NCIMD), Children’s Health Ireland at Temple Street have shown a remarkable increase. This is making it one of the biggest paediatric metabolic centres in Europe. The experts at NCIMD have extensive collaborations internationally, helping Ireland remain at the forefront of treatment.
A very significant fact, bearing in mind that Ireland is a small country. This is amplified by the fact Ireland only has one National Centre for Metabolic Medicine for children.
Model of Care
We at NCIMD strongly support expanding NNBSP for IMDs in the Irish context, but this will only be possible if the necessary resources can be made available. NCIMD has for instance completed a Model of Care as part of its Service Plan, outlining its basic requirements for providing the service as a National Centre. This includes a minimum of two additional consultant metabolic paediatrician posts as well as appropriate nursing posts and other service providers to promote and provide highest quality and research-led healthcare to children affected by IMDs and their families.
With thanks
We would like to thank our patients and their families for their involvement in our clinical studies and everybody involved in patient care for their highly valuable input. This publication was supported by the Research Department, Children’s Health Ireland at Temple Street.
