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Psychotic symptoms in children could have a genetic cause

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A 6-year-old boy began hearing voices from the walls and the institution intercom telling him to hurt himself among others. He saw ghosts, aliens in trees, and colored footprints. Joseph Gonzalez-Heydrich, MD, a psychiatrist at Boston Children’s Hospital, put him on antipsychotic medications and the frightening hallucinations stopped. Another child, at age 4, had hallucinations with monsters, a large black wolf, spiders, and a guy with blood on his face.

While children are recognized for their active imaginations, it’s extremely rare to allow them to have true psychotic symptoms. Through chromosomal array testing, both children were found to possess copy number variants or CNVs, meaning deletions of duplications of chunks of these DNA.

Today, through the first Psychosis Investigation Center (EPICenter) at Boston Children’s, Gonzalez-Heydrich and his colleagues David Glahn, Ph.D. and Catherine Brownstein, MPH, Ph.D., have genetically tested 137 children and adolescents with what’s referred to as early-onset psychosis, or psychotic symptoms appearing prior to the age of 18. Predicated on their findings, published August 24 in the American Journal of Psychiatry, they urge chromosomal microarray testing in virtually any child with psychotic symptoms.

A genetic cause for psychosis: Copy number variants

A lot more than 70 percent of the kids in the analysis had begun experiencing psychosis prior to the age of 13. Twenty-eight percent met formal criteria for schizophrenia, having persistent and unrelenting symptoms. All underwent systematic testing for DNA duplications and deletions, together called or CNVsand a surprising 40 percent tested positive. CNVs were as common because they are in children with autism, that are often screened for CNVs in the clinic. Oftentimes, the CNVs identified had been associated with other psychiatric and neurodevelopmental disorders.

“Our findings create a strong case for chromosomal microarray testing in virtually any child or adolescent identified as having psychosis,” says Brownstein, who co-led the analysis with Elise Douard at the Universit de Montral. “Testing often brings closure for families, and may help advance research.”

Ending years of uncertainty

Families tend to be relieved to discover that their child’s psychotic symptoms have a biological component. Their child’s psychosis might have been misdiagnosed, explained away as a standard developmental phase, related to stresses like being bullied, as well as blamed on bad parenting.

“Many parents feel just like they’re put beneath the microscope, or are even accused of triggering their child’s symptoms,” says Gonzalez-Heydrich. “It parallels what happened with autism a generation ago.”

In other cases, psychosis could be missed as the child also offers autism or another developmental disorder. Just over a third of children in the analysis had an analysis of autism spectrum disorder, 12 percent had intellectual disability, and 18 percent had a brief history of seizures.

Finally, well-meaning clinicians could be reluctant to stigmatize a kid by diagnosing them with psychosis, preferring to view and wait. But getting a CNV might justify an effort of to see should they help.

“The longer psychosis goes untreated, the harder it really is to treat down the road,” says Glahn. “If we are able to address it earlier and appropriately, the kid will probably do better over their lifetime.”

How do parents recognize psychosis?

Many children have behaviors that may look like psychosis, like having an imaginary friend. But true psychosis is distressing to children and outside their control, say Glahn and Gonzalez-Heydrich.

In a few children, psychotic symptoms come and go. Psychosis can appear whenever a child is under stress, angry, very depressed, or having mood swings. However in children with true schizophrenia, symptoms are persistent and extreme. This is rare in children under 10, but becomes less rare in adolescence and early adulthood. For perspective, schizophrenia affects just one to two 2 percent of the overall population, including adults.

The initial signs of could be general. A kid could become withdrawn. Their day-to-day functioning may decline, sometimes dramatically, interfering with school and relationships. Or they could have outbursts where they hadn’t before. Later, and paranoia might take hold, evoking the child to see and hear items that aren’t there, often items that feel threatening.

“It isn’t basically the child thinking someone’s discussing them because they’re socially anxious,” says Gonzelez-Heydrich. “It’s multiple voices criticizing them, scaring them, telling them to accomplish bad things. Or feeling that strangers are looking at them, likely to do them harm.”

From research to aid and care

Besides encouraging treatment, getting a CNV in a kid with psychosis allows other family to be tested to see if they’re at an increased risk. Some CNVs may also cause medical complications like seizures, heart disease, or weakened arteries which can be watched and treated. Family found to possess CNVs can also be at an increased risk for such medical problems, even though they don’t really have .

Brownstein, scientific director of the Manton Center for Orphan Disease Research at Boston Children’s and an associate of the Division of Genetics and Genomics, oversaw the testing. She notes that getting a CNV might help parents connect to other families for reassurance and support. Also, once a CNV is available, scientists can study what the lost or duplicated genes do. This may lead to an improved knowledge of the origins of early psychosis and perhaps to raised antipsychotic drugs, that have changed little because the 1950s.

“We don’t possess medications tailored to CNVs yet,” Brownstein says. “However when parents gather, they are able to organize and identify research specialized in their unique CNV. We are able to study their as an organization and identify effective treatments faster.”

Brownstein and Douard were co-first authors on the paper. Glahn, Gonzalez-Heydrich and Sbastien Jacquemont, MD, of the Universit de Montral, were co-senior authors.

More info: American Journal of Psychiatry (2022). 76/appi.ajp.21111175

Citation: Psychotic symptoms in children could have a genetic cause (2022, August 24) retrieved 24 August 2022 from

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