Linking brain to mind in a common genetic disease

Certain genetic diseases affect children's educational abilities in a distinctive pattern: impairing their numerical abilities more than their verbal skills. New research sheds light on this split in abilities by investigating how differences in brain structures may influence how the mind works.

Researchers at The Children's Hospital of Philadelphia, studying a common chromosome disorder, have used high-tech imaging tools to identify abnormal brain tissue associated with problems in perceiving spatial relationships and thinking about numbers.

Understanding the links between brain structure and brain function may offer clues to improving methods to help children with specific learning disabilities. By pinpointing specific sites in the brain associated with impaired mental functions, scientists hope to eventually help children retrain their brains to follow alternative pathways and work around their cognitive weaknesses.

Cognitive neuroscientist Tony J. Simon, Ph.D., led the studies of children with chromosome 22q11.2 deletion syndrome, the most common genetic deletion syndrome. In this disorder, a tiny portion of chromosome 22 is missing, causing symptoms such as heart defects, cleft palate, abnormal immune responses and cognitive impairments. Children's Hospital is a world center for research and treatment of the syndrome.

The current work draws on cognitive neuroscience an emerging scientific field that investigates how the mind arises from the biology of the brain. One important factor driving the field is the application of tools such as magnetic resonance imaging (MRI) to yield more precise measurements of structures in the living brain. MRI can provide images and compute volumes of anatomical features. In addition, by measuring how water diffuses in the brain, it indicates the layout of nerve fibers and suggests how brain areas are connected to each other.

Dr. Simon is now at the M.I.N.D. Institute of the University o

Contact: John Ascenzi
Children's Hospital of Philadelphia

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