Early psychosis may be genetic

Illustration of a family searching for answers to their child's early onset psychosis, complete with genes and spooky images
Psychotic symptoms in children can be misdiagnosed, dismissed as normal development, or attributed to stress. New work shows that early psychosis may have a genetic cause. (Images: Adobe Stock. Illustration: David Chrisom, Boston Children’s Hospital)

A 6-year-old boy began seeing ghosts, aliens in trees, and colored footprints. Even more troubling, he heard voices on the school’s walls and intercom telling him to hurt himself and others. Joseph Gonzalez-Heydrich, MD, a psychiatrist at Boston Children’s Hospital, prescribed him antipsychotic medication when he was 9 years old. The frightening hallucinations stopped.

Although children are known for their active imaginations, it is extremely rare for them to have genuine psychotic symptoms. Concerned, Gonzalez-Heydrich arranged for a genetic test for the boy. A test known as chromosomal microarray analysis revealed that he had lost a piece of his DNA: he had only one copy of chromosome region 16p13.11 when he should have had two.

Another child at age 4 had hallucinations with monsters, a big black wolf, spiders and a man with blood on his face. She was found to have a duplicate piece of DNA.

today, dr Gonzalez-Heydrich and his colleague David Glahn, PhD, established the Early Psychosis Investigation Center (EPICenter) at Boston Children’s to better understand these rare cases. In a study just published in the American Journal of Psychiatrythey have now genetically tested 137 children and adolescents with a so-called early psychosis or psychotic symptoms that appear before the age of 18.

The findings open a way to diagnose and treat these devastating cases, help traumatized families recover, and potentially accelerate the development of better antipsychotic drugs.

Genetics of early psychosis: copy number variants

More than 70 percent of the children in the study had started experiencing psychosis before the age of 13. Twenty-eight percent met formal criteria for schizophrenia and had persistent and unrelenting symptoms. All have been systematically tested for DNA duplications and deletions, collectively called copy number variants or CNVs. Eight percent were found to have CNVs known to be associated with neurodevelopmental disorders. This made CNVs as common as in children with autism, who are often screened for CNVs in the clinic.

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Many parents feel scrutinized or even blamed for causing their child’s symptoms.”

“Our results make a strong case for chromosomal microarray testing in any child or adolescent diagnosed with psychosis,” said Catherine Brownstein, MPH, PhD in the Department of Genetics and Genomics at Boston Children’s, who co-directs and co-directs the EPICenter Studied with Elise Douard at the Université de Montréal. “Testing often brings closure to families and could help advance research.”

End of the years of uncertainty

Families are often relieved to learn that their child’s psychotic symptoms have a biological component. Your child’s psychosis may have been misdiagnosed, explained away as a normal developmental phase, blamed on stressors like bullying, or even blamed on poor parenting.

“Many parents feel scrutinized or even accused of causing their child’s symptoms,” says Gonzalez-Heydrich. “It’s similar to what happened with autism a generation ago.”

In other cases, psychosis may be missed because the child also has autism or another developmental disorder. Just over a third of the children in the study were diagnosed with an autism spectrum disorder, 12 percent had an intellectual disability, and 18 percent had a history of seizures.

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Finally, well-meaning clinicians may be reluctant to stigmatize a child by diagnosing them with psychosis, preferring to watch and wait. But if a child has symptoms of psychosis, finding CNV might justify trying antipsychotic medications to see if they help.

“The longer a psychosis remains untreated, the more difficult it is to treat later,” says Glahn. “If we can treat it earlier and appropriately, the child will likely get better over the course of his or her life.”

How can parents recognize early psychosis?

Many children have behaviors that can appear psychotic, like having an imaginary friend. But true psychosis is distressing for children and beyond their control, say Glahn and Gonzalez-Heydrich.

In some children, psychotic symptoms come and go. Psychosis can occur when a child is stressed, angry, very depressed, or has mood swings. But in children with true schizophrenia, the symptoms are persistent and extreme. This is very rare in children under the age of 10 but becomes less rare in adolescence and early adulthood. For comparison, schizophrenia affects only 1 to 2 percent of the general population, including adults.

The longer a psychosis remains untreated, the more difficult it is to treat later. If we can treat it earlier and appropriately, the child will likely get better throughout his life.”

The earliest signs of a psychotic illness can be general in nature. A child can withdraw. Their day-to-day functioning can sometimes deteriorate dramatically, interfering with school and relationships. Or they may have breakouts where they didn’t have one before. Hallucinations and paranoia may later set in, causing the child to see and hear things that are not there, often things that feel threatening.

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“The child doesn’t just think that someone is talking about them because they have social anxiety,” says Gonzelez-Heydrich. “It’s multiple voices criticizing them, scaring them, telling them to do bad things. Or feel like strangers are staring at them and plotting to harm them.”

From research to supervision and support

In addition to advancing treatment, finding CNV in a child with psychosis allows other family members to be tested to determine if they are at risk. Some CNVs can also cause medical complications, such as seizures, heart problems, or weakened blood vessels, which can be monitored and treated. Family members found to have CNVs may also be at risk for such medical problems, even if they don’t have behavioral symptoms.

Brownstein, who is also the scientific director of the Manton Center for Orphan Disease Research at Boston Children’s, oversaw the testing. She notes that finding a CNV can help parents network with other families for reassurance and support. Once a CNV is found, scientists can also study what the lost or duplicated genes do. This could lead to a better understanding of the origins of early psychosis and possibly better antipsychotic drugs, which have changed little since the 1950s.

“We don’t have any drugs tailored for CNVs yet,” Brownstein says. “But when parents come together, they can organize and identify research on their respective CNV. We can study their children as a group and identify effective treatments much faster.”

Learn more about the Early Psychosis Investigation Center (EPICenter) at Boston Children’s.

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