ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2022) 19 10.2 | DOI: 10.1530/ey.19.10.2


NIDDK Type 1 Diabetes TrialNet Study Group.Diabetes. 2022 Apr 1;71(4):610-623. https://pubmed.ncbi.nlm.nih.gov/35316839/

Brief Summary: This is a comprehensive review on general population screening, a current hot topic in the field of type 1 diabetes (T1D). The authors provide a critical overview of the rationale for population screening, arguments for and against it, current efforts to guide this program and the key hurdles to address.

The introduction of a general population screening for T1D offers an appealing opportunity to shift the diagnosis at an early asymptomatic stage and reduce the burden associated with T1D. An early identification of children at risk of T1D can prevent severe acute presentations such as diabetic ketoacidosis (DKA), whose prevalence is still unacceptably high, and is associated with substantial morbidity and mortality (1,2). There is optimism that in the future at-risk children could be offered treatment to delay or even prevent the onset of T1D. The recent anti-CD3 (teplizumab) trial showed the promise of immunotherapy in people at risk of T1D, with a single 14-day treatment course able to delay the diagnosis by an average of 2 years (2).

Advances in the understanding of the natural history of T1D has led to the characterization of pre-symptomatic stages (1 and 2) preceding clinical manifestations (stage 3). T1D-specific autoantibodies can be detected several years before the onset of the disease, and children with 2 or more autoantibodies have a risk of 84% of developing T1D over 15 years, supporting the use of autoantibodies as a useful screening tool (3). Screening programs so far have focused on relatives of people with T1D, who have a 15-fold increased risk of developing this condition compared to the general population. However, at least 85% of children with T1D do not have an affected family member, thus supporting the value of a general population screening.

The review addresses other key aspects, such as when to start screening and the most cost-effective approach. It also highlights the importance of providing the right education and psychological support to families. Follow up of children identified at risk needs to be defined. Partnership with community primary care providers will be essential for the implementation of general population screening.

References: 1. Cherubini V, Grimsmann JM, Ækesson K, Birkebæk NH, Cinek O, Dovč K, et al. Temporal trends in diabetic ketoacidosis at diagnosis of paediatric type 1 diabetes between 2006 and 2016: results from 13 countries in three continents. Diabetologia 2020;63:1530–1541. 2. Herold KC, Bundy BN, Long SA, Bluestone JA, DiMeglio LA, Dufort MJ, et al. An Anti-CD3 Antibody, Teplizumab, in Relatives at Risk for Type 1 Diabetes. N Engl J Med 2019;381:603–613. 3. Dayan CM, Besser REJ, Oram RA, Hagopian W, Vatish M, Bendor-Samuel O, Snape MD, Todd JA. Preventing type 1 diabetes in childhood. Science 2021;373:506–510.

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