Specific Genetic Mutations Present in Many Children With ADHD

MedicalResearch.com Interview with:
Dr. Josephine Elia, M.D.

Neuroscience Center
Department of Child and Adolescent Psychiatry
Nemours/Alfred I. DuPont Hospital for Children

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Glutamate neurotransmission may play an important role in ADHD and other neuropsychiatric disorders. The purpose of this study is to determine the frequency of genetic mutations involving specific genes (GRM network genes) which influence glutamatergic neurotransmission. A total of 23 study sites across the USA enrolled 1,013 children, aged 6-17 years who had been previously diagnosed with ADHD. Saliva samples were submitted to The Center for Applied Genomics (CAG) at CHOP for analysis of mutations of interest. Information on medical history, including other neuropsychiatric diagnoses and family history as well as areas of academic and social concern were also collected.

Overall, the mutation frequency was 22%, with a higher prevalence of 25% observed in patients aged 6-12. When compared to mutation negative ADHD patients, the patients with the mutations of interest were more likely to have concerns about anger control and disruptive behaviors.

MedicalResearch.com: What should clinicians and patients take away from your report?

Response: This study replicates previous research published by Elia et al (Nature Genetics 2012) confirming the increased frequency of mGluR network CNVs in the ADHD population and supports a potential role for direct/indirect modulation of glutamatergic signaling in the treatment of ADHD.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: Results of an ongoing interventional trial of NFC1 in adolescents with ADHD and GRM network mutations of interest will augment understanding of the role of glutamatergic pathways in ADHD.

Additional research using more rigorous assessments will improve the understanding of the phenotypic traits and severity of in ADHD subjects with GRM network mutations of interest.

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Disclosure:  Research supported by Medgenics, Inc.


Abstract presented at the AACAP’s 63rd Annual Meeting (Oct. 24-29, 2016 in New York, NY)
Poster 6.67: Glutamatergic Network Gene Mutations in Adolescents and Children with Attention Deficit Hyperactivity Disorder (ADHD)
AACAP’s 63rd Annual Meeting website.

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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