Brain abnormalities seen in children with severe form of diabetes
Brain scans identified regions of significantly reduced gray matter (right column) and white matter (left column) in young people with Wolfram syndrome. The brainstem and the cerebellum were particularly affected. (TAMARA HERSHEY, PHD)
(Medical Xpress) -- Children with a rare syndrome that includes a form of insulin-dependent diabetes have brain abnormalities that appear to set the stage for cognitive problems later in life, according to new research at Washington University School of Medicine in St. Louis.
The scientists studied children with Wolfram syndrome, which causes insulin-dependent diabetes in childhood. The disorder also causes hearing and vision loss and kidney problems. As patients get older, they can develop cognitive difficulties and dementia, and more than half die before their 30th birthday.
Earlier case studies had used imaging to identify brain abnormalities, but scientists had assumed those changes occurred late in the disease process when Wolframs patients got older. The new findings suggest, however, that some changes in the brain occur early in childhood.
The study is published in the online journal Public Library of Science (PLoS) One.
This video is not supported by your browser at this time.This work strongly suggests that brain changes occur very early in the disease, says first author Tamara Hershey, PhD. 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.
Wolfram syndrome results from mutations in a single gene called WSF-1, which was first identified in 1998 by the late M. Alan Permutt, MD, a former professor of medicine and of cell biology and physiology. He later developed an animal model of the disorder.
In 2010, Permutt organized the worlds first clinic exclusively for patients with Wolfram syndrome. The initiative drew children worldwide to St. Louis for testing and evaluation. Another clinic was held last year, and a third will take place this summer at St. Louis Childrens Hospital.
Hershey, a professor of psychiatry, of neurology and of radiology, focuses on the neurological aspects of Wolfram syndrome. She leads the scientific efforts of the interdisciplinary clinic, along with Bess A. Marshall, MD, associate professor of pediatrics, who is the clinics medical director. Nearly a dozen Washington University faculty members evaluate patients at the Wolfram clinic as part of studies to better understand the syndrome.
For the new study, Hershey obtained brain scans of Wolfram patients ages 5-25 and other young patients who only had type 1 diabetes, along with healthy controls in the same age range. The study represents the first time that scientists have attempted to measure and statistically quantify brain differences in patients with Wolfram syndrome.
These individuals are intact cognitively, and some of them are very smart, high-functioning kids, she says. 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.
In particular, Hersheys group has identified changes in the brainstem and the cerebellum. They also found that the skulls of these children tended to be smaller than would have been expected, based on their ages at the time of the study. The investigators also detected differences in the thickness of the brains 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, she says. 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.
Wolfram syndrome is very rare, affecting an estimated one in 770,000 children. Before these comprehensive research clinics were established, most of what scientists knew about the brains of patients with the disorder had come from clinical exams of adult patients or autopsies of patients with Wolframs.
Hershey believes that by conducting annual MRI scans and continuing to track patients with Wolfram syndrome over time, it may be possible to distinguish changes that occur during brain development from those that occur due to degeneration related to the disorder.
More information: Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, Paciorkowski AR, Eisenstein SA, Permutt MA. Early brain vulnerability in Wolfram Syndrome. PLoS One, July 11, 2012. dx.plos.org/10.137… pone.0040604.
Journal reference: PLoS ONE
- Researchers study children at risk for Tourette syndrome Jan 04, 2011 | not rated yet | 0
- Wolfram Research introduces new programmable document type Jul 25, 2011 | not rated yet | 0
- Wolfram Alpha shows flights overhead Nov 18, 2011 | not rated yet | 0
- Falls may be early sign of Alzheimer's Jul 18, 2011 | not rated yet | 0
- Soldiers screened for potential vulnerability to tinnitus Mar 29, 2011 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Pressure-volume curve: Elastic Recoil Pressure don't make sense
May 18, 2013 From pressure-volume curve of the lung and chest wall (attached photo), I don't understand why would the elastic recoil pressure of the lung is...
If you became brain-dead, would you want them to pull the plug?
May 17, 2013 I'd want the rest of me to stay alive. Sure it's a lousy way to live but it beats being all-the-way dead. Maybe if I make it 20 years they'll...
MRI bill question
May 15, 2013 Dear PFers, The hospital gave us a $12k bill for one MRI (head with contrast). The people I talked to at the hospital tell me that they do not...
Ratio of Hydrogen of Oxygen in Dessicated Animal Protein
May 13, 2013 As an experiment, for the past few months I've been consuming at least one portion of Jell-O or unflavored Knox gelatin per day. I'm 64, in very...
Alcohol and acetaminophen
May 13, 2013 Edit: sorry for the typo in the title , can't edit I looked around on google quite a bit and it's very hard to find precise information on the...
Marie Curie's leukemia
May 13, 2013 Does anyone know what might be the cause of Marie Curie's cancer
- More from Physics Forums - Medical Sciences
More news stories
In their quest to learn more about the variability of cells between and within tissues, biomedical scientists have devised tools capable of simultaneously measuring dozens of characteristics of individual ...
Medical research 13 hours ago | 5 / 5 (3) | 0 |
In 2008 researchers from the University of Southern Denmark showed that the drug thioridazine, which has previously been used to treat schizophrenia, is also a powerful weapon against antibiotic-resistant bacteria such as ...
Medical research May 17, 2013 | 4 / 5 (4) | 0 |
Scientists investigating the interaction of a group of proteins in the brain responsible for protecting nerve cells from damage have identified a new target that could increase cell survival.
Medical research May 17, 2013 | 5 / 5 (1) | 0
New findings by researchers carrying out experiments at the U.S. Department of Energy Office of Science's Advanced Photon Source (APS) help explain why some drugs that interact with two kinds of human serotonin ...
Medical research May 17, 2013 | 4 / 5 (1) | 0 |
A novel study reports that white men and women of European descent inherit common foot disorders, such as bunions (hallux valgus) and lesser toe deformities, including hammer or claw toe. Findings from the Framingham Foot ...
19 minutes ago | not rated yet | 0 |
Whole-cell pertussis vaccines were more effective at protecting against pertussis than acellular pertussis vaccines during a large recent outbreak, according to a new Kaiser Permanente study published in Pediatrics.
6 minutes ago | not rated yet | 0 |
Touted for safety, ease and patient convenience, peripherally inserted central catheters have become many clinicians' go-to for IV delivery of antibiotics, nutrition, chemotherapy, and other medications.
27 minutes ago | not rated yet | 0
Researchers at Mayo Clinic have developed a promising method to distinguish between pancreatic cancer and chronic pancreatitis—two disorders that are difficult to tell apart. A molecular marker obtained from pancreatic ...
12 minutes ago | not rated yet | 0
Scientists at Johns Hopkins have turned their view of osteoarthritis (OA) inside out. Literally. Instead of seeing the painful degenerative disease as a problem primarily of the cartilage that cushions joints, ...
13 hours ago | 4.8 / 5 (5) | 0 |
Researchers at the University of Wisconsin have identified a potential new risk factor for obstructive sleep apnea: asthma. Using data from the National Institutes of Health (Heart, Lung, and Blood Institute)-funded Wisconsin ...
12 hours ago | 5 / 5 (1) | 0 |