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SCHIZOPHRENIA - NOW WE KNOW ITS GENETIC

A new, recently-published study has thrown light on the genetic processes that cause schizophrenia in adolescents. Dr. Doron Gothelf, Pediatric Psychiatrist and Director of the Behavioral Neurogenetic Clinic at Schneider Children's, conducted the research at Stanford sUniversity in the United States. The 5-year study followed 24 children with Velo-Cardio-Facial Syndrome (VCFS).

The youngsters were first examined at the age of 13 and then again at 18. The researchers discovered that during adolescence, about one third of those with VCFS developed schizophrenia.

Research also showed that children with VCFS who suffered from a high deficiency of the COMT gene (pivotal in brain activity), also suffered from a significant decrease in volume in the frontal lobe of the brain, a decrease in cognitive, verbal and language ability, and from teenage psychotic outbursts.

Schizophrenia is a disease that is accompanied by enormous human suffering and manifests itself in hallucinations, delusions and an impaired ability to think and function. Symptoms first usually appear during adolescence or early adulthood. Previously, schizophrenia was thought to result from environmental causes such as complicated family relationships or faulty parenting, but over recent years, these theories were proved incorrect and that there is a strong genetic predisposition. Despite the high hereditary factor, the causative gene has not yet been identified   due to the fact that schizophrenia, a disease defined by its symptoms, probably results from multiple gene mutations. Gene identity apparently changes according to variables such as the age of disease onset, its severity and accompanying symptoms.

VCFS is a fairly common condition that has been relatively neglected by the medical and mental health professions. It occurs in about 1 in 4,000 children, similar to the incidence of Tourette Syndrome and autism, yet, despite its debilitating nature, it has remained severely underdiagnosed. VCFS is caused by a microdeletion in chromosome 22. Patients suffer from a range of cognitive, psychological and psychiatric medical disorders as well as physical defects, the most common of which are cleft palate, causing their speech to be hypernasal and often difficult to understand, and congenital cardiac anomalies.  

The manifestation of VCFS is a valuable guide in the study of brain-behavior development and thus integrates psychiatric and medical services. In addition, the study of VCFS reveals a great deal about the relationship between genetics and behavior in children and adults. The Neurobehavioral Genetic Clinic at Schneider Children's brings together the resources of a major tertiary children?  ?ss facility and a group of young investigators from various disciplines who have already made an impact on the field.

The Neurobehavioral Genetic Clinic at Schneider Children's treats about 200 families whose children suffer from VCFS and another 80 families whose children suffer from Williams Syndrome, another neurogenetic syndrome manifested by unique behaviors. Cognitive diagnoses are conducted within the framework of the clinic's activities in order to ensure the child's appropriate educational placement. Families of children with rare genetic diseases require prolonged support, consultation and accompaniment. Clinic staff assists families in coping with the medical and psychological difficulties associated with the treatment of children with special needs.

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