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Genetic Link between Autism and Schizophrenia Confirmed


  • Published: 2010-11-17 (Revised/Updated 2013-06-04) : Author: Alice Wolfe
  • Synopsis: Growing evidence of genetic link between schizophrenia autism spectrum disorder (ASD) and bipolar disorder.

Researchers Confirm Genetic Link between Autism and Schizophrenia.

Researchers from Atlanta's Emory University have added to the growing evidence of a genetic link between schizophrenia, autism spectrum disorder (ASD) and bipolar disorder. "We have uncovered a variation that confers a very high risk for ASD, schizophrenia, and neuro-developmental disorders," says Dr. Daniel Moreno-De-Luca from the university's department of human genetics, "We believe it may also increase risk for other psychiatric conditions such as bipolar disorder."

The gene variation involves a missing sequence of 15 genes normally present on chromosome 17. These genes were missing in 24 study participants with ASD, schizophrenia or intellectual delay or disability, but not in any of the participants without these conditions. Those missing the gene sequence were almost 14 times more likely to develop autism and schizophrenia. According to Dr. Moreno-De-Luca, the same 15 genes are among the most frequently identified genomic deletions identified in children with unexplained neurodevelopment impairments. Over 23,000 individuals with ASD, schizophrenia or intellectual delay or disability were genetically tested for the study, and over 52,000 controls without these conditions.

Autism spectrum disorder refers to a range of neuro-developmental disorders involving impaired social interaction and communication and restricted and repetitive movements, including autism, Asperger syndrome and Rett syndrome. Schizophrenia is a severe, disabling mental illness characterized by disruptions in thinking and emotional responses, often involving psychosis. Bipolar disorder is a complex chronic mental illness characterized by a "roller coaster" of severe emotional highs and lows.

Antipsychotic medications are the first line of treatment for psychosis in both schizophrenia and bipolar disorder, and are increasingly used to treat non-psychotic disorders such as autism and Tourette syndrome. As a result, antipsychotic drugs are the most commonly prescribed class of drugs in the United States. Antipsychotic medications are believed to act by blocking the chemical receptors in the brain normally linked by the chemical nerve messenger dopamine, and are classified into two groups, the first generation typical anti-psychotics, and the second generation atypical anti-psychotics. The newer atypical anti-psychotics such as Seroquel or Abilify tend to have fewer and less severe side effects.

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