Genes, Brain Development and Psychiatric Phenotypes in Velo-Cardio-Facial Syndrome

Autor/inn/en	Gothelf, Doron; Schaer, Marie; Eliez, Stephan
Titel	Genes, Brain Development and Psychiatric Phenotypes in Velo-Cardio-Facial Syndrome
Quelle	In: Developmental Disabilities Research Reviews, 14 (2008) 1, S.59-68 (10 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1940-5510
DOI	10.1002/ddrr.9
Schlagwörter	Schizophrenia; Risk; Neurology; Young Adults; Brain; Longitudinal Studies; Genetics; Child Development; Psychiatry; Genetic Disorders; Symptoms (Individual Disorders); Adolescents; Behavior Problems; Mental Disorders; Brain Hemisphere Functions; Neurological Impairments; Diagnostic Tests + Suchen Sie Ihr Suchwort? Schizophrenie; Risiko; Neurologie; Young adult; Junger Erwachsener; Gehirn; Longitudinal study; Longitudinal method; Longitudinal methods; Längsschnittuntersuchung; Humangenetik; Kindesentwicklung; Psychiatrie; Psychiatrische Symptomatik; Adolescent; Adolescence; Adoleszenz; Jugend; Jugendalter; Jugendlicher; Mental illness; Geisteskrankheit; Neurodegenerative Erkrankung; Diagnostic test; Diagnostischer Test
Abstract	Velo-cardio-facial syndrome (VCFS) has been in the focus of intensive research over the last 15 years. The syndrome represents a homogeneous model for studying the effect of a decreased dosage of genes on the development of brain structure and function and, consequently, on the emergence of schizophrenia-like psychotic disorder. In this review, we describe the psychiatric phenotype of children, adolescents, and young adults with VCFS. We redefine the concept of "behavioral phenotype" and suggest that psychosis fulfills the criteria of a behavioral phenotype of the syndrome. Identifying the risk factors for the emergence of psychosis in VCFS is a major goal of several large-scale longitudinal studies that are currently underway. We review the knowledge gained so far about risk factors for psychosis in VCFS, including early neuropsychiatric symptoms, development of brain structure and function, and the effect of a reduced dosage of genes from the 22q11 deletion region. Although the brain structure in subjects with VCFS is not drastically different from typically developing controls, newer imaging modalities that measure white matter tracts, cortical thickness, and cortical gyrification are likely to identify more subtle and specific neuroanatomical substrates of the syndrome. Among the 24 genes within the deletion region, the role of catechol-"O"-methyltransferase ("COMT") on the VCFS phenotype has been investigated in depth. The findings suggest that because of haploinsufficiency of the "COMT" gene individuals with VCFS are exposed to a high level of prefrontal dopamine, and this interferes with their prefrontal cognitive functioning and may contribute to their high rate of psychosis and other psychiatric disorders. The other genes and environmental factors that shape the unique neuropsychiatric phenotype of VCFS are yet to be discovered. (As Provided).
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Update	2017/4/10