Limiting screenings to children at genetic risk misses many cases
It’s time to consider screening all children for early signs of type 1 diabetes, a new study suggests.
In the United States, only people who have family members with the disease or a known genetic risk are routinely screened for the early stages of type 1 diabetes. But a 10-year study in Germany reports that the extension of screening made it possible to identify more children without a family history of the disease, researchers report May 21 in the Journal of the American Medical Association. About 90 percent of people who develop type 1 diabetes do not have family members with the disease.
The team examined more than 220,000 children and found that 590 of them were in the early stages of the disease. Of the 260 children who developed type 1 diabetes during the follow-up period, 212, or 81 percent, were identified through screening. If it had been limited to people with a family history, only 101 of 590 in the early stages would have been identified and only 34 of 212 progressing to type 1 diabetes.
Not only do people with type 1 diabetes fare better if they are diagnosed early, but knowing that the diagnosis is coming “can help people prepare for what life will be like,” says pediatric endocrinologist Jennifer Sherr of the Yale School of Medicine, who was not involved in the new study. There is also a new drug, called teplizumab, that can delay the onset of the disease in people at early stages.
Type 1 diabetes is an autoimmune disease in which the body destroys the cells in the pancreas, called beta cells, that produce insulin. This hormone is essential for regulating blood levels of the sugar glucose, the body’s main source of fuel. Disease management requires that individuals monitor their blood sugar and inject several varying doses of insulin throughout the day. Next to 4 children out of 1,000 report having the disease in the United States.
The early stages of type 1 diabetes are not symptomatic. In stage 1, the body has started to destroy beta cells, but blood sugar levels are still normal. A positive blood test for two or more proteins, called autoantibodies, that falsely target beta cells confirms this first step. If a person tests positive for two or more autoantibodies and their blood sugar becomes abnormal, they are in stage 2. For children in these early stages, there is an 85% or greater risk of developing type 1, or stage 3, diabetes within 15 years. Progression from early stages to clinical disease occurs more rapidly in children than in adults.
Usually, by the time a person is diagnosed with type 1 diabetes, they have symptoms and many beta cells have been lost. Often, the diagnosis occurs due to a medical emergency: diabetic ketoacidosis, a life-threatening situation in which insulin is so low that it is not possible for the body to access glucose for energy. Blood sugar spikes and acids build up in the blood as the body begins to break down fats. Symptoms include shortness of breath, feeling thirsty, confusion and vomiting; Without treatment, a person can fall into a coma and die. In the United States, for 30 to 40 percent of children, their diagnosis of type 1 diabetes occurs because they develop diabetic ketoacidosis.
Knowing if an individual is in the early stages of type 1 diabetes also allows monitoring and treatment to begin early, helping to avoid diabetic ketoacidosis. Previous research has shown that having this condition at the time of diagnosis is linked to poorer disease control for children and adolescents.
The new study examined and followed preschool and primary school children from 2015 to 2025 in Bavaria. Families of children identified with early-stage disease had access to diabetes education and follow-up at diabetes centers. The German research team also reported that the rate at which early-stage children progressed to clinical disease was the same whether or not they had family members with type 1 diabetes.
Along with early monitoring and treatment, the drug teplizumab, which helps prevent beta cell destruction, is approved for children and adults in stage 2. This 14-day infusion treatment delayed progression to clinical type 1 diabetes in a study of children and adults for about four years, compared to about two years in the placebo group, researchers reported in 2019 in the New England Journal of Medicine. This can allow a young child to get a little older before needing insulin or not have to start “in mid-adolescence and allow people to just struggle with adolescence itself,” Sherr says. “It’s amazing to think about having this time” before taking on the burden of regular treatment.
In the United States, studies are testing the implementation of type 1 diabetes screening in the general population. the Dakotas And Colorado.
