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July 14, 2005

VCFS & Brain Disorders in Children

Brain Scans May Predict Mental Illness in Children with VCFS

Children diagnosed with VCFS - Velo-Cardio-Facial Syndrome known also as Shprintzen Syndrome have a one in four chance of developing psychiatric disabilities. VCFS is "linked to the deletion of small piece of chromosome 22 that...can cause cleft palate, heart defects, and abnormal facial appearance and learning problems." It is thought to be the "second most common genetic syndrome in humans." The prevalence of this disorder is 1 in 2,000. Unfortunately, children suffering from this disorder already face a number of medical problems, but now recent studies have shown that they might also have to face the possible development of psychiatric disabilities.

Wendy Kates, Ph.D., and associate professor of psychiatry at SUNY Upstate Medical University and her colleagues are attempting "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 neuropsychological 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.”

Not only will this research aid scientists comprehend the relationship that exists between VCFS and psychiatric disorders, but also, it may enhance clinicians' abilities to predict the development of psychiatric disorders among VCFS patients. Kates believes such an understanding would allow for earlier treatment.

Already, Kates and her team have performed a related study in which they give children with and without VCFS neuropsychological tests, eye-tracking exercises, and computer-tracking exercises. Through these tests and exercises they are able "to compare the performance between the two groups of children." Kates and her researchers have discovered that “(c)hildren with VCFS have difficulty sustaining attention, and have deficits in memory and sensitive functioning, planning and organization..." Kates states that, “(b)y analyzing the relationship between brain growth...and a child's performance...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.”

Though this information has been focused mainly on VCFS, the study of its relation to psychiatric disabilities has implications on brain disorders as a whole. Kates sums of these implications by stating: “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 (brain disorders) and how the brain structure contributes to that..."

VCFS has not only been linked to pediatric psychiatric disorders in general, but also specifically to the onset of bipolar disorder. Demitri Papolos, author of The Bipolar Child, has conducted studies of VCFS children at the Albert Einstein college of medicine. He found "in a mixed group of twenty-five VCSF children, adolescents, and adults, 68% met DSM-IV criteria for some form of bipolar disorder" (Papolos, The Bipolar Child, p. 172). The researchers observed that many began with mood swings and night terrors, which escalated into full-blown episodes of mania. Papolos comments: "Remarkably, these patients were showing the same developmental patterns of symptoms that we were later to observe in the bipolar children in our study" (p. 173).

One hypothesis for this link between VCFS and bipolar disorder is the fact that one of the genes commonly deleted on chromosome twenty-two in VCSF children is the COMT gene, which codes for an enzyme responsible for the breakdown of three neurotransmitters -norepinephrine, dopamine, and epinephrine. These chemicals are important for regulating mood and emotion in the brain. The COMT gene has also been identified as a candidate gene that predisposes some individuals to schizophrenia. It may be the common link that helps to explain the significant overlap of symptoms between schizophrenia and bipolar disorder.

Title: "Brain Scans May Predict Mental Illness in Children with VCFS"
Date: July 14, 2005.


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