Scientists Find Brain Abnormalities Among Children with Wolfram syndrome

Early childhood brain abnormalities among Wolfram syndrome patients have been noticed by scientists from the Washington University School of Medicine in St Louis.

Wolfram syndrome is very rare condition affecting one in 770,000 children.

It causes diabetes, hearing problem, vision loss and kidney problems in childhood.

As the child grows older it starts developing cognitive disorders and dementia and more than half die before their 30th birthday.

Earlier, scientists had identified brain abnormalities but they had assumed these changes could not be detected in early childhood. The new findings suggest that some changes in the brain area occur in early childhood.

"This work strongly suggests that brain changes occur very early in the disease," said Tamara Hershey, researcher at the Washington University School of Medicine, in a statement.

"The Wolfram gene is important throughout the body - in the heart, retina, pancreas and so on. The pancreas is affected very early in development eventually leading to diabetes, so it stands to reason that other organs like the brain may also be affected at an early age, even before a child experiences any cognitive problems."

Scientists made the finding while studying brain scans of Wolfram patients. During the study, they took brain scans of Wolfram patients aged between 5 to 25 and other young patients who only had type 1 diabetes.

When then they compared the brain scans of young children with the Wolfram patients' brain scans, they detected mild brain abnormalities among the young diabetes patients.

"These individuals are intact cognitively, and some of them are very smart, high-functioning kids but we have been able to detect significant differences in the size of certain brain structures, leading us to believe that some of these differences must happen during brain development," Hershey said.

Scientists had identified changes in the brainstem and the cerebellum. They also found that the skulls of these children tended to be smaller than what would have been expected, based on their ages at the time of the study.

The researchers also detected differences in the thickness of the brain's cortex, particularly in parts of the cortex related to vision.

"We were able to pinpoint those regions of the brain that are most affected in terms of size - the brainstem and the cerebellum and we also used a type of imaging called diffusion tensor imaging that allowed us to measure the integrity of white matter pathways in the brain.

Again, we found evidence that the brainstem and the cerebellum white matter were affected in patients with Wolfram syndrome, compared to those with type 1 diabetes only and healthy controls," Hershey said.

Scientists claim that by conducting more MRI scans and continuing to track patients with Wolfram syndrome over time, they might be able to distinguish changes that occur during brain development from those that occur due to degeneration related to the disorder.

DIABETES Type 1: An artificial pancreas will defeat it

At best, Type 1 diabetes is a huge nuisance and at worst a constant threat of death for up to 3 million Americans whose pancreases don't produce insulin.

Technology has improved the life of some diabetics, with insulin pumps replacing manual injections and glucose monitors that keep constant watch of diabetics' blood-sugar levels, reducing the need for finger-pricks.

Yet diabetics are still required to frequently monitor and adjust their insulin levels. Now one company, Animas Corp., has completed the first successful human trial of a made-for-market artificial pancreas that takes care of everything automatically.

Are we on the verge of relegating type 1 diabetes to an easily manageable condition? Here's a look at the quest to ease the lives of diabetics:

How does an artificial pancreas work?
The replacement pancreas ties together an insulin pump, a glucose monitor and a computer system that automatically adjusts insulin levels, creating a "closed-loop" system.

Animas' Hypoglycemia-Hyperglycemia Minimizer (HHM) currently uses a laptop to predict how much insulin a patient will need, based on individualized algorithms, and regulates levels accordingly, but the company hopes its artificial pancreas will soon be operated by smartphone, or a processor in the insulin pump.

There are a number of rival artificial pancreases in development; one from Boston and Harvard unversities, and the other from the University of Virginia and an international consortium of researchers, which already operate by smartphone.

How did the HHM work in the field?
The artificial pancreas worked very well, but the trial only had 13 subjects, lasted about 20 hours, and took place under constant medical supervision at a hospital.

The next step will be having patients use the HHM part-time in the hospital and part-time at home, then finally letting diabetics use it completely on their own.

The artificial pancreas developed by the University of Virginia just started outpatient testing, and researchers expect the trials to ramp up and last through 2013.

Is an artificial pancreas a sure thing?
"Diabetics regularly receive glowing news about the latest and greatest leaps forward in insulin technology," and they're often disappointed, says Heather McClellan at The Escapist.

This looks to be different, and an artificial pancreas is probably in the cards. That could be great, if diabetics are willing to entrust their lives to a machine that will "always carry the risk of mechanical failure or a snafu in the software."

So when might diabetics be able to use one?
An artificial pancreas is "still a long way off," says Meeri Kim at the Philadelphia Inquirer.

How long? "I wish I could give you a time frame, maybe two years, four years, a decade," says Animas chief medical officer Henry Anhalt.

"Given the regulatory hurdles, we are moving as quickly as possible." Even when the pancreas does hit the market, it won't be cheap: An Animas insulin pump alone costs $6,343, for example.

Still, many insurers will probably pick up the tab. If science pulls this off, diabetics will not only live better and healthier, but potentially eat normally, too, says Andrew Tarantola at Gizmodo.

We will essentially have "solved type 1 diabetes."