Newswise — Pictures of the brain may hold clues as to why children diagnosed with a genetic disorder may also be at high risk for developing mental illness. Velo-Cardio-Facial Syndrome (VCFS), also known as Shprintzen Syndrome, is a genetic disorder linked to the deletion of small piece of chromosome 22 that causes can cause cleft palate, heart defects, and abnormal facial appearance and learning problems. VCFS is believed to be the second most common genetic syndrome in humans has a population prevalence of approximately 1 per 2,000. Recent studies have found that nearly one in four of all children diagnosed with VCFS will also develop psychiatric disorders. "The most challenging part for families whose children are diagnosed with VCFS is the myriad of medical problems the children will face in their young life, but fear of severe psychiatric illness can be devastating," said Wendy Kates, Ph.D., associate professor of psychiatry, who is part of a team of researchers at SUNY Upstate Medical University trying to advance understanding of the link between VCFS and mental illness. Kates and her research team, supported by more than $2 million in federal funds, are comparing brain scans of children with VCFS with those of healthy children to discover whether abnormal brain development may be a predictor of mental illness in VCFS sufferers. Her team is also investigating several other potential predictors, such as deficits in eye tracking and neuropsychologial function. Follow-up assessments, including repeat brain scans, will be undertaken over the next three years.
"We believe that there will be some children whose psychological functioning has deteriorated," Kates said. "By viewing conducting fine-grained measurements of brain regions on these brain scans we hope to identify the changes in the brain that occur in these children." While the research will help scientists and others broaden their understanding of the relationship between brain growth in VCFS patients and their increased likelihood of developing psychiatric disorders, the findings may also enable clinicians to predict who among the VCFS community may be at risk of developing a psychiatric condition.
"This would be an encouraging development as we would be able to start treatment sooner and hopefully maintain a positive quality of life for these individuals," Kates said.
In a related study, Kates and her team of researchers are putting children-those with VCFS and those without-through a series of neuropsychological tests, as well as eye-tracking and computer-tracking based exercises, to compare the performance between the two groups of children. "Children with VCFS have difficulty sustaining attention, and have deficits in memory and sensitive functioning, planning and organization," Kates said. "By analyzing the relationship between brain growth with and a child's performance with on these tests, we may begin to see a common link between the two that will give us a clearer understanding of what causes these deficits in function." As scientists have increased their understanding of what genes cause specific medical problems, research into VCFS has increased. "The more we explore how the deleted genes in VCFS are linked to the various abnormalities children and adults have with this diagnosis, the closer we can come to developing, in our case, a model for human mental illness and how the brain structure contributes to that," Kates said.
Kates will discuss her work on this study at the 11th Annual International Scientific Meeting of the Velo-Cardio-Facial Syndrome Educational Foundation July 30 at 9 a.m. at the Sheraton University Hotel and Conference Center in Syracuse, N.Y.