Genetic Testing May Be Useful in Pediatric ADHD

“One of many questions we have been making an attempt to handle is what’s how are these problems totally different from each other?” Doan informed Psychiatric Instances.

“Many individuals have thought that ADHD is fully polygenic,” he mentioned. “In that case, on the medical aspect, most youngsters with ADHD don’t get genetic testing resembling exome or genome sequencing.”

Nevertheless, when the analysis workforce utilized exome and genome sequencing to this cohort, the outcomes had been hanging. “We see about possibly 20% of our children even have an identifiable genetic analysis that may account for his or her ADHD presentation,” Doan reported, calling the discovering “fairly stunning.” He famous that this diagnostic yield is corresponding to charges noticed in autism.

In an extra 30% of households with out a clearly pathogenic variant, the investigators recognized sturdy candidate missense variants, typically in genes already related to autism or mental incapacity. In accordance with Doan, these findings level to a broader phenotypic spectrum. “The identical genes that trigger autism are inflicting mental incapacity in addition to now ADHD, however there are several types of variants,” he mentioned.

One notable sample was the enrichment of variants in chromatin methylation–associated genes—pathways nicely established in autism analysis however not historically emphasised in ADHD. Practical research counsel that missense variants behave in another way from loss-of-function variants, each molecularly and clinically. “Our missense variants are very totally different from lack of operate variants, each molecularly and phenotypically within the household,” Doan mentioned.

These findings have potential implications for medical observe. Present American School of Medical Genetics and Genomics² pointers advocate exome-first testing for youngsters with autism, however ADHD has not been included in related suggestions. Doan argued which will want to alter. “I feel we’re just about must be there now for ADHD,” he mentioned, including that even youngsters with ADHD with out autism or different comorbidities must be thought of for testing.

Whereas many households will nonetheless obtain unfavourable outcomes, Doan emphasised the worth of actionable solutions. “I feel 10% to twenty% of these youngsters are going to get a solution,” he mentioned. “And I feel that’s a considerable profit to these households.”

Reference

1. Zimon M, Doan R, Arnett A. Household-based genomic evaluation identifies clinically related uncommon variants in pediatric ADHD. Poster offered on the APSARD 2026 Annual Convention; January 15-18, 2026; San Diego, CA.

2. Richards S, Aziz N, Bale S, et al. Requirements and pointers for the interpretation of sequence variants: a joint consensus suggestion of the American School of Medical Genetics and Genomics and the Affiliation for Molecular Pathology. Genet Med. 2015 Might;17(5):405-424.