Newbie

Neonatal diabetes mellitus (NDM) is a rare form of diabetes that occurs within the first 6 months of life, it occurs in approximately one baby in every 90,000 live births.  Infants with NDM are born with changes in their genes, which affect insulin production. Our bodies need insulin to help our cells make energy. Infants with NDM do not produce enough insulin, increasing the levels of blood sugar in the body to very high levels.  

Genetic testing can help properly diagnose this problem. There are 41 known genetic causes of diabetes and these account for the >80% of diabetes diagnosed in babies less than 6 months old. Finding out the genetic cause is important, as this can guide clinicians to give the most appropriate treatment, with either tablets or insulin injections.  

Delayed diagnosis of NDM is associated with developmental concerns. At present, infants with NDM often are unrecognised as being seriously ill until their blood sugar is at a high and life-threatening level. Infants become unwell in the first 6 months of life, with vomiting, dehydration and very high levels of sugar (glucose) and acid (ketones) in their blood which can be very difficult to treat. Some infants die and those that survive may be left with brain damage and need lifelong care.  

Key to improving treatment and care, reducing the impact of disease on families and NHS costs would be the ability to diagnose NDM as soon as possible, to enable treatment to be started much sooner. The aim of our research is to add NDM to the current NHS newborn blood spot screening programme. 

We have developed a test which measures sugar levels in blood spots from newborns on day 5 of life and have shown that this test is simple and can be carried out within an existing NHS screening laboratory. We are now working with health economists to find out whether screening for this condition is suitable and cost effective, however important information is lacking which is not routinely collected. 

This surveillance study aims to collect data on infants that have been diagnosed with NDM over a 25-month period. This information will help us to estimate how many infants are diagnosed with NDM per year and to understand how the condition is diagnosed, treated & managed in hospital.  We will also collect follow up data 24-36 months after a baby is diagnosed with NDM to understand more about the long-term treatment and outcomes

Primary objectives

• Estimate the incidence of neonatal diabetes in infants up to and including 26 weeks of age (6 months) in the UK and ROI over a period of 25 months.
• Describe the clinical features of the condition on/at presentation.
• Management of the condition, treatment option and whether genetic testing was carried out. 
• What are the clinical outcomes (such as neurological sequelae and death) in infants with neonatal diabetes.
• Determine if there is genetic heterogeneity in acuity of presentation, management and clinical outcomes of neonatal diabetes.

• Any infant up to and including 26 weeks of age (6 months) with a confirmed diagnosis of diabetes
• Random plasma glucose concentration >=11.1mmol/l on two or more occasions with a clinical diagnosis of diabetes mellitus by a paediatrician