Research provides clues to neurodevelopemental disorders
Research released today shows that scientists are finding new tools to help understand neurodevelopmental disorders like autism and fragile X syndrome. These studies show in new detail how the brain’s connections, chemicals, and genes interact to affect behavior. The research findings were presented at Neuroscience 2011, the Society for Neuroscience’s annual meeting and the world’s largest source of emerging news about brain science health.
Neurodevelopmental disorders like autism-spectrum disorders and fragile X syndrome are often diagnosed as the brain is developing and a child’s difficulty communicating and interacting with others is perceptible. One in every 110 children is diagnosed with an autism-spectrum disorder.
Today’s new findings show that:
Children with bipolar disorder look at facial features other than the eyes when determining facial expressions. The findings may explain why they have difficulty identifying emotions, like children with autism (Pilyoung Kim, PhD, abstract 299.10, see attached summary).
An enzyme called STEP is elevated in a mouse study of fragile X syndrome. Removing that protein makes the mice more social, suggesting a new therapeutic target (Susan Goebel-Goody, PhD, abstract 238.02, see attached summary).
The gene that causes fragile X syndrome is associated with brain structure and working memory in healthy men, a finding that may explain why its loss causes disease (Susan Rivera, PhD, abstract 645.08, see attached summary).
Another recent finding discussed shows that:
Animal studies explore synaptic and behavioral abnormalities related to a candidate gene for autism and the autism-related disorder Phelan-McDermid Syndrome (Joseph Buxbaum, PhD, see attached speaker summary).
“This research is imperative in investigating the causes of neurodevelopmental disorders, which begin early in development and change the trajectory of so many lives,” said press conference moderator and child neurologist Emanuel DiCicco-Bloom, MD, of the UMDNJ-Robert Wood Johnson Medical School. “With the help of further research, scientists and clinicians can lay a foundation for effective education, early intervention, and new treatments.”
Fragile X Syndrome
Fragile X syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X.
People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include
- Intelligence problems, ranging from learning disabilities to severe mental retardation
- Social and emotional problems, such as aggression in boys or shyness in girls
- Speech and language problems, especially in boys
Fragile X has no cure. You can treat some symptoms with educational, behavioral or physical therapy, and with medicines. Getting treatment early for Fragile X can help.
This research was supported by national funding agencies, such as the National Institutes of Health, as well as private and philanthropic organizations.
Fragile X syndrome is not caused by a problem with nutrition. A person’s diet may contribute to heart disease, the formation of gallstones, or heartburn. Nutritional diseases are often caused by someone eating too much of or too little of a particular nutrient.
Instead, fragile X syndrome is transmitted from parent to child through the genetic information (DNA) that is present in the sperm and eggs.
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In 1969, Lubs discovered excessive genetic material that extended beyond the long arm of the X chromosome in affected males and in their unaffected female relatives. These results were impossible to reproduce until the importance of the folate-deficient thymidine-deficient medium, which was used in the initial studies to culture lymphocytes, was realized.
Since the 1960s and early 1970s, progress toward mapping the gene has been steady and rewarding, and the precise genetic defect that causes fragile X syndrome has been characterized. Advances in molecular genetics have provided reliable diagnostic testing. Clinically, patients with fragile X syndrome have an array of physical, cognitive, and neurobehavioral features.
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