A Longitudinal Study of Biomarkers For Psychosis in Velo-cardio-facial syndrome / 22q11.2 deletion syndrome
Velo-cardio-facial syndrome (VCFS) (also known as 22q11.2 DS) is caused by a microdeletion on the long arm of chromosome 22 (22q.11) and is associated with craniofacial anomalies, cardiac defects, learning disabilities, and psychiatric disorders. Up to 25% of adults with VCFS develop schizophrenia or bipolar disorder.
We are conducting a study of adolescents with VCFS, their unaffected siblings, and typically-developing peers, in order to understand:
- The natural history of child psychiatric disorders in children and adolescents with VCFS
- Whether abnormalities in brain morphology, eye tracking performance, sustained attention, and working memory are present and co-occur in children and adolescents with VCFS
- Whether participants who display brain abnormalities and / or deficits in eye tracking, sustained attention and working memory will exhibit deterioration in mood regulation, psychosocial function, or psychological well-being over time.
- Whether brain abnormalities or neuropsychological deficits (in youth with VCFS only) are associated with variation in the genes on the healthy chromosome of 22q11.2.
Study participants are administered a battery of cognitive, neuropsychological and psychiatric tests, smooth pursuit eye tracking tasks, and a brain MRI scan. Blood samples are also collected from youth with VCFS. We invite all participants to return to our Center for follow-up assessments every three years for the duration of the study. This study is supported by a grant from the National Institutes of Health NIH/NIMH to Dr. Kates.
An fMRI Study of Genetic Modulation of Emotional Processing in Velo-cardio-facial Syndrome
This study uses functional magnetic imaging (fMRI) to study the relationship between genetics, gender and emotional processing in velocardiofacial syndrome (VCFS), a condition that leads to schizophrenia in a quarter of carriers. It remains unknown why VCFS patients are at increased risk for schizophrenia but it may be partially due to one or more of the genes deleted on one copy of the chromosome 22 in these individuals. One gene in this region possibly linked to schizophrenia susceptibility is the catechol-O-methyltransferase (COMT) gene, which breaks down the neurotransmitter dopamine. Researchers have shown this gene varies between individuals. Our study investigates whether allelic variation of the COMT gene interacts with gender to affect neural activation on fMRI tasks of emotional face recognition and affective perception. Successful identification of gene- and gender-moderated alterations in the neural correlates of emotional processing will enhance our ability to identify those children with VCFS who may be at high risk for developing schizophrenia. This study is supported by a NARSAD Independent Investigator Award to Dr. Kates.
An MRI Study Comparing Adults with Velo-cardio-facial Syndrome and Adults with Schizophrenia
This study uses anatomic and functional MRI as well as neuropsychological assessments to compare the neuroanatomic and neurocognitive phenotype in young adults with VCFS to non-VCFS-affected individuals with schizophrenia. This study will provide insight into the functioning of young adults with VCFS as well as a subset of individuals with schizophrenia in the general population. This study was supported by a SUNY Hendricks Pilot Grant to Dr. Antshel.
Neuroanatomy and Cognition in Monozygotic Twins Discordant for the Narrow Phenotype for Autism
Autism is a pervasive, behaviorally-defined neurodevelopmental disorder that includes persistent deficits in communication, reciprocal social interaction, and play. Family and twin studies provide strong evidence for a significant genetic component in autism. In an attempt to disentangle genetic and environmental contributions to autism, our study uses anatomic MRI and neuropsychological assessment to compare a cohort of monozygotic (MZ) twins discordant for autism to a sample of typically and developing children. This study was supported by an award to Dr. Kates from the National Alliance for Autism Research (which has since merged with Autism Speaks) and the Autism Society of America.