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Scientists Find Gene for Form of Autism

  • Jessica Berman

Colleen Jankovich looks over her 11-year-old autistic son, Matthew, who is non-verbal and requires 24/7 care, in Omaha, Nebraska, May 23, 2014.

Colleen Jankovich looks over her 11-year-old autistic son, Matthew, who is non-verbal and requires 24/7 care, in Omaha, Nebraska, May 23, 2014.

Autism is a mysterious developmental disorder, whose cause is unknown. But for the first time, researchers have discovered a gene that's linked to the disorder in an estimated one half of one percent of patients. Their findings could lead to a way to do genetic testing for autism.

Children with mutations of the gene called CHD8 have a larger head size, wide-set eyes and gastrointestinal problems. In addition to their characteristic appearance, they experience sleep disturbances.

In a collaboration involving 13 institutions around the world, investigators examined more than 6,000 youngsters with autism spectrum disorder. They found 15 of the children had mutations to CHD8. All of those children had similar physical features.

Researchers confirmed the findings in experiments with zebra fish. They altered the CHD8 gene and fish were born with large heads and wide-set eyes. Investigators then fed the fish fluorescent pellets and saw they had problems eliminating waste and were constipated.

Researchers are calling the discovery "a game changer" because they believe it could lead to the discovery of hundreds more genetic mutations involved in the developmental disorder. In time, investigators predict gene tests could be offered families to help guide them on what to expect and how to care for a child with autism.

Currently, autism is diagnosed through watching a child's behavior.

Autism is marked by difficulties with social interaction, verbal and non-verbal communication and repetitive behaviors. It's called a spectrum disorder because some children are mildly autistic, a condition called Asperger's syndrome, while others are profoundly affected.

A study on the discovery of CHDH mutations was published in the biomedical journal Cell.

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