Early psychosis may be genetic - Boston Children's Answers

Early psychosis may be genetic – Boston Children’s Answers

Psychotic symptoms in children may be misdiagnosed, considered a normal phase of development, or attributed to stress. New work reveals that early psychosis may have a genetic cause. (Images: Adobe Stock. Illustration: David Chrisom, Children’s Hospital Boston)

A 6-year-old boy started seeing ghosts, aliens in the trees, and colored footprints. More disturbingly, he heard voices coming from the walls and the school intercom telling him to hurt himself and others. Joseph Gonzalez-Heydrich, MD, a psychiatrist at Boston Children’s Hospital, put him on antipsychotics when he was 9 years old. The frightening hallucinations ceased.

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

Another child, aged 4, had hallucinations with monsters, a big black wolf, spiders and a man with blood on his face. We found out she had a duplicate piece of DNA.

Today, Drs. Gonzalez-Heydrich and his colleague David Glahn, PhD, formed 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 what is called early psychosis, or psychotic symptoms appearing before the age of 18.

The results point the way to the diagnosis and management of these devastating cases, helping traumatized families heal and perhaps accelerating the development of better antipsychotics.

Genetics of early psychosis: copy number variants

More than 70% of the children in the study had started to suffer from psychosis before the age of 13. Twenty-eight percent met formal criteria for schizophrenia, showing persistent and persistent symptoms. All underwent systematic testing for DNA duplications and deletions, together called copy number variants or CNVs. Eight percent had CNVs known to be associated with neurodevelopmental disorders. This has made CNVs as common as in autistic children, who are often screened for CNVs in the clinic.

Many parents feel like they’ve been put under the microscope or are even blamed for triggering their child’s symptoms.

“Our results argue for chromosomal microarray testing in any child or adolescent diagnosed with psychosis,” says Catherine Brownstein, MPH, PhD in Boston Children’s Division of Genetics and Genomics, who co-leads the EPICenter. and co-directs the study with Elise Douard at the University of Montreal. “Testing often brings closure for families and could help move research forward.”

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 as a normal developmental phase, attributed to stresses like bullying, or even blamed on poor parenting.

“Many parents feel like they’ve been put under the microscope or are even blamed for triggering their child’s symptoms,” says Gonzalez-Heydrich. “It sounds like what happened with autism a generation ago.”

In other cases, psychosis may go unnoticed because the child also has autism or another developmental disorder. Just over a third of the children in the study had an autism spectrum disorder diagnosis, 12% had an intellectual disability and 18% had a history of seizures.

Finally, well-meaning clinicians may be reluctant to stigmatize a child with a diagnosis of psychosis, preferring to watch and wait. But if a child has symptoms of psychosis, finding CNV may warrant a trial of antipsychotic drugs to see if they help.

“The longer the psychosis goes untreated, the harder it is to treat it later,” says Glahn. “If we can treat it earlier and appropriately, the child is likely to do better in life.”

How can parents recognize early psychosis?

Many children exhibit behaviors that may resemble psychosis, such as having an imaginary friend. But real psychosis is distressing to children and out of their control, say Glahn and Gonzalez-Heydrich.

In some children, psychotic symptoms come and go. Psychosis can appear 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 10, but becomes less rare in adolescence and early adulthood. For perspective, schizophrenia affects only 1-2% of the general population, including adults.

The longer the psychosis is not treated, the more difficult it is to treat it later. If we can treat it earlier and appropriately, the child is likely to do better in life.

The first signs of psychotic illness may be general. A child can become withdrawn. Their daily functioning may decline, sometimes dramatically, interfering with school and relationships. Or they may have explosions where they had none before. Later, hallucinations and paranoia can set in, causing the child to see and hear things that aren’t there, often things that seem threatening.

“It’s not just the child who thinks someone is talking about them because they’re socially anxious,” Gonzelez-Heydrich explains. “There are several voices that criticize them, scare them, tell them to do bad things. Or feeling that strangers are watching them, planning to do them harm.

From research to support and care

In addition to encouraging treatment, finding CNV in a child with psychosis allows other family members to be tested to see if they are at risk. Some CNVs can also cause medical complications such as seizures, heart problems, or weakened blood vessels that can be monitored and treated. Family members with CNV may also be at risk for such medical problems, even if they do not exhibit behavioral symptoms.

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

“We don’t have drugs suitable for CNV yet,” says Brownstein. “But when parents come together, they can organize and identify research devoted to their particular CNV. We can study their children in groups and identify effective treatments much faster. »

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

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