Sex Differences in Cognitive Functioning in Velocardiofacial Syndrome (VCFS)

Velocardiofacial Syndrome

Sex differences in cognitive functioning were investigated in children with velocardiofacial syndrome (VCFS), a genetic defect caused by a microdeletion on chromosome 22q.11. The study population consisted of six groups: 50 boys with velocardiofacial syndrome (VCFS) (M = 11.1, SD = 2.7), 40 girls with velocardiofacial syndrome (VCFS) (M = 10.8, SD = 2.5), 13 male siblings of the participant with velocardiofacial syndrome (VCFS) (M = 12.3, SD = 1.9), 17 female siblings of the participant with velocardiofacial syndrome (VCFS) (M = 12.2, SD = 1.9), and a race- and gender-ratio-matched sample of 28 boy community control participants (M = 10.7, SD = 2.4) and 19 girl community control participants (M = 9.2, SD = 2.3). Each participant received a psychological assessment including intellectual and academic achievement as well as structural magnetic resonance imaging of his or her brain. Our results indicate that boys with velocardiofacial syndrome (VCFS) may be more cognitively affected than girls. In addition, and although cross-sectional in nature, our results document a negative association between age and cognitive functioning in girls with velocardiofacial syndrome (VCFS) but not in boys. Sex differences in frontal lobe volume are generally seen in the general population between boys and girls (boys > girls) and across all three samples, this trend emerged. Relative to boys with velocardiofacial syndrome (VCFS), girls with VCFS may be less cognitively affected, although age is negatively associated with cognitive functioning in girls with velocardiofacial syndrome (VCFS) but not boys, suggesting that girls with velocardiofacial syndrome (VCFS) may fail to maintain this cognitive advantage over boys.

Velocardiofacial Syndrome

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What causes velocardiofacial syndrome?

Velocardiofacial Syndrome

The cause of Velocardiofacial Syndrome is unknown. What is known is that it is a genetic disorder. This means that there is a problem with one or more of the genes which are found in every cell of the body that contain the instructions that tell cells what to do. Although the gene or genes that cause Velocardiofacial Syndrome have not been identified, most of the children who have been diagnosed with this syndrome are missing a small part of chromosome 22. Chromosomes are threadlike structures found in every cell of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes (23 from each parent). The location or address of the missing segment in individuals with Velocardiofacial Syndrome is 22q11. As a result of this deletion, some of the genes are absent from this chromosome.

Scientists and physicians know that Velocardiofacial Syndrome is an autosomal dominant disorder. This means that only one parent needs to have the gene for Velocardiofacial Syndrome in order to pass it along to their children. When one of the parents has Velocardiofacial Syndrome the chance of their children having the syndrome is 1 in 2 or about 50/50 for each birth. Research has revealed, however, that Velocardiofacial Syndrome is inherited in only about 10 to 15 percent of the cases. In most instances, neither of the parents has the syndrome or carries the defective gene and the cause of the deletion is unknown.

Velocardiofacial Syndrome

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What is velocardiofacial syndrome?

Velocardiofacial syndrome

Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. (A disease or disorder that has more than one identifying feature or symptom is a syndrome.) The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems.

Although velocardiofacial syndrome is the most common syndrome associated with a cleft palate, it was not recognized until 1978, at which time Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York, described 12 children with the disorder. Most or all of these first 12 children were born with a cleft palate, heart defects and similar faces. Velocardiofacial syndrome may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome.

Velocardiofacial syndrome

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