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Multidisciplinary Approach Aids in Diagnosing Autism

Multidisciplinary Approach Aids in Diagnosing Autism

French researchers have combined three clinical, neurophysiological and genetic approaches to better understand the brain mechanisms that cause autism.

Researchers at Inserm and Tours Regional University Hospital used the approach with two families to help them identify specific gene combinations in autistic patients that distinguished them from patients with intellectual disabilities.

Investigators believe the approach offers new prospects for the diagnosis and understanding of the physiological mechanisms of autism.

The study appears in the journal Molecular Psychiatry.

Autism is a condition characterized by great heterogeneity, both in terms of clinical manifestations and genetics. It is currently estimated that nearly 400 genes may be involved in this disorder.

Diagnosis of this condition is all the more complex because it is often associated with other developmental disorders involving the same genes.

To improve diagnosis, the Inserm researchers used an original multimodal approach combining:

  • clinical assessment;
  • high-throughput genomic analysis to sequence all the genes;
  • analyses of the electrical activity of the brain in response to the perception of a change (electroencephalography (EEG)).

Two families with members affected by autism and/or intellectual disability were given the benefit of this integrated approach.

In these two families, all individuals affected by the condition carried a mutation in the NLGN4X gene, which manifested in the brain as problems in transmitting information by the neurons.

Using EEG, the researchers primarily observed an abnormal brain wave pattern, characteristic of patients with autism. The other family members, including those with intellectual disabilities, did not show this feature.

Thanks to this new approach, a second rare mutation was characterized and linked to atypical brain activity measured by EEG in autistic patients.

According to researchers Drs. Frédéric Laumonnier and Frédérique Bonnet-Brilhault, “This study helps us realize that there is no ‘gene for autism,’ but combinations of genes involved in neurodevelopment that affect the development of the neuronal networks targeted by this condition.”

Investigators believe that identifying these combinations is a key step in understanding the physiopathology, and ultimately in the development of targeted therapeutic drugs.

Source: Inserm/EurekAlert

Multidisciplinary Approach Aids in Diagnosing Autism

Rick Nauert PhD

Rick Nauert, PhDDr. Rick Nauert has over 25 years experience in clinical, administrative and academic healthcare. He is currently an associate professor for Rocky Mountain University of Health Professionals doctoral program in health promotion and wellness. Dr. Nauert began his career as a clinical physical therapist and served as a regional manager for a publicly traded multidisciplinary rehabilitation agency for 12 years. He has masters degrees in health-fitness management and healthcare administration and a doctoral degree from The University of Texas at Austin focused on health care informatics, health administration, health education and health policy. His research efforts included the area of telehealth with a specialty in disease management.

APA Reference
Nauert PhD, R. (2018). Multidisciplinary Approach Aids in Diagnosing Autism. Psych Central. Retrieved on November 29, 2020, from
Scientifically Reviewed
Last updated: 8 Aug 2018 (Originally: 22 Jun 2015)
Last reviewed: By a member of our scientific advisory board on 8 Aug 2018
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