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Genetic Mutation that May Cause Childhood Onset Schizophrenia Discovered in Collaborative Study

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Results of a 10-year study including researchers from the Hebrew University of Jerusalem have discovered a genetic mutation in children and families that indicates a possible cause and potential treatment for Childhood-Onset Schizophrenia (COS).

COS is a rare, severe mental illness diagnosed in children before age 13. It is very difficult to diagnose accurately, so many clinicians are reluctant. Approximately one in 10,000 children are diagnosed with COS in the US.

The study reveals that seven of the 33 children and their families who participated had the mutation. This finding can help improve the diagnosis and find a specific treatment for the disease.

The role of genetics in schizophrenia is significant and widely studied in the common form of the disease that appears in adolescence or early adulthood but is rarely examined among young patients with COS.

The joint research study was conducted with Ness Ziona and Eitanim Psychiatric Hospitals, Sheba Medical Center, and Columbia University in New York.

According to Professor Yoav Kohn, former chairman Psychiatry Department at the Hebrew University and director of the Child and Adolescent Psychiatry Ward at Eitanim: “Childhood schizophrenia is similar to schizophrenia in adults, including false thoughts, hallucinations, and disorganised speech and behaviour, as well as decreased motivation and other symptoms. These are accompanied by impaired cognitive and behavioural function.”

COS poses a diagnostic challenge to mental health professionals because many children report unusual phenomena in terms of thinking and perception, which can result from the normal use of imagination and fantasy to deal with mental distress. There is also a differential diagnosis with autism and anxiety disorders, and post-traumatic disorders that can even reach states close to psychosis.

Kohn says: “Finding mutations that explain the disease in approximately 20% of childhood schizophrenia patients opens far-reaching diagnostic and therapeutic possibilities. For example, a mutation was found in the GRIA2 gene that codes for a sub-unit of the glutamate receptor, the main excitatory neurotransmitter in the central nervous system.”

“Mutations in this gene have previously been associated with language and behavioural problems, but not schizophrenia. Another mutation in the gene MICU1 that had not been previously associated with schizophrenia is known to cause mitochondrial damage with muscle weakness, developmental problems and learning disabilities. Therefore, these findings may also expand the definition of the known syndrome phenotype and aim at new targets for drug treatment.”

Childhood schizophrenia has an even stronger genetic basis than later-onset schizophrenia,” says Dr Anna Alkali, Research Associate at the Institute for Genomic Medicine, Columbia University’s first author. “The disorder is more common among first-degree relatives; therefore, there are reasons to deduce that in this population, it will be easier to crack the genetic component in the aetiology of the disease.”

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