A 6-year-old boy began hearing voices coming from the walls and the school intercom telling him to hurt himself and 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 big black wolf, spiders, and a man with blood on his face.
While children are known for their active imaginations, it’s extremely rare for them to have true psychotic symptoms. Through chromosomal array testing, both children were found to have copy number variants or CNVs, meaning deletions of duplications of chunks of their DNA.
Today, through the Early 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 known as early-onset psychosis, or psychotic symptoms appearing before the age of 18. Based on their findings, published August 24 in the American Journal of Psychiatry, they urge chromosomal microarray testing in any child with psychotic symptoms.
A genetic cause for psychosis: Copy number variants
More than 70 percent of the children in the study had begun experiencing psychosis before 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 copy number variants or CNVs—and a surprising 40 percent tested positive. CNVs were as common as they are in children with autism, who are often screened for CNVs in the clinic. In many cases, the CNVs identified had also been linked to other psychiatric and neurodevelopmental disorders.
“Our findings make a strong case for chromosomal microarray testing in any child or adolescent diagnosed with psychosis,” says Brownstein, who co-led the study with Elise Douard at the Université de Montréal. “Testing often brings closure for families, and could help advance research.”
Ending years of uncertainty
Families are often relieved to learn that their child’s psychotic symptoms have a biological component. Their child’s psychosis may have been misdiagnosed, explained away as a normal developmental phase, attributed to stresses like being bullied, or even blamed on bad parenting.
“Many parents feel like they are put under the microscope, or are even accused of triggering their child