Published: 13-10-2020 17:18 | Updated: 14-10-2020 13:54

ADHD genetic risk score associated with intervention outcomes in autism.

DNA Genetic Material Helix
DNA Genetic Material Helix Foto: Gerd Altmann Pixabay

Researchers from Karolinska Institutet demonstrate that genetic risk score for ADHD can influence how autistic individuals respond to standard interventions and the specific program on social skills training KONTAKT®. This study is now published in npj Genomic Medicine.

Assistant Professor Kristiina Tammimies, corresponding author of the study. Foto: Ulf Sirborn

"Our ultimate goal is to be able to use genetic information to tailor intervention plans in autism," says the last author Kristiina Tammimies, Assistant Professor at the Center of Neurodevelopmental Disorders KIND, Department of Women's and Children's Health at Karolinska Institutet. "Here, we utilized a method to summarize genetic information to a risk score and test if these risk scores have association intervention outcomes."

Professor Sven Bölte Foto: N/A

The study utilized a recent clinical trial that tested a specific training program KONTAKT® developed at the Center for Neurodevelopmental Disorders at Karolinska Institutet (KIND) under the supervision of Professor Sven Bölte, co-last author of the study. Under the clinical trial, the participants were also asked to contribute a saliva sample for this current study's genetic analyses. “It is of paramount importance to understand the genetic prerequisites associated with intervention outcomes in order to optimize the clinical use and further development of KONTAKT®” says Sven Bölte.

PhD student Danyang Li the first author of the study
PhD student Danyang Li the first author of the study Foto: Ulf Sirborn

Links between neurodevelopmental disorder

In this study, the researchers calculated genetic risk score for ASD, ADHD, and educational attainment for each of the 188 participants and tested if these three scores were associated with the outcome after the social skills intervention or the standard clinical care. Results showed that individuals with higher ADHD polygenic risk scores had better outcomes after standard care than after the social skills program.

"The majority of autistic individuals have at least one comorbidity, including ADHD," says the study's first author Danyang Li, a doctoral student from the Department of Women's and Children's Health at Karolinska Institutet. "Previous studies have shown a high genetic correlation between ASD and ADHD. Therefore; it is interesting to find a new connection between ADHD related common variants risk and ASD interventions."

Exploring genetic variants on interventions

"Our study indicates that genetic determinants are not only important for disorder causality but also intervention outcomes," Kristiina Tammimies says. "We hope that our study will also lead to more genetic research with a focus on intervention effects for ASD and other neurodevelopmental disorders."

The KONTAKT clinical trial was led by the Center of Neurodevelopmental Disorders at Karolinska Institutet (KIND) and performed in collaboration with Region Stockholm. Various funders supported this study, among others the Swedish Research Council, the Stockholm County Council, the Swedish Foundation for Strategic Research, the Swedish Brain Foundation, the Harald and Greta Jeanssons Foundations, Åke Wiberg Foundation, and the Strategic Research Area for Neuroscience (StratNeuro).



The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder.
Danyang Li, Nora Choque-Olsson, Hong Jiao, Nina Norgren, Ulf Jonsson, Sven Bölte, and Kristiina Tammimies.
Npj Genomic Medicine, 12 October 2020