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Autism: The value of an integrated approach to diagnosis

June 19, 2015

Researchers at Inserm (Inserm Unit 930 "Imaging and Brain") attached to François-Rabelais University and Tours Regional University Hospital have combined three clinical, neurophysiological and genetic approaches in order to better understand the brain mechanisms that cause autism. When tested on two families, this strategy enabled the researchers to identify specific gene combinations in autistic patients that distinguished them from patients with intellectual disabilities.

This study, published in the journal Molecular Psychiatry, offers new prospects for the diagnosis and understanding of the physiological mechanisms of autism.

Autism is a condition characterised 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 characterised and linked to atypical brain activity measured by EEG in autistic patients.

For Frédéric Laumonnier and Frédérique Bonnet-Brilhault, the main authors of this work, "This study helps us realise 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."

Identifying these combinations is a key step in understanding the physiopathology, and ultimately in the development of targeted therapeutic drugs.

Autism is a pervasive developmental disorder that appears early in childhood and continues into adulthood. It presents as an altered ability to establish social interactions and communicate, and as behavioural problems. People with autism often seem imprisoned in a kind of inner world.
This work was supported by Fondation de France and the European Union (EU FP7 project Gencodys)


GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability
F Bonnet-Brilhault1,2,3,9, S Alirol1,2,9, R Blanc3,4, S Bazaud1,2, S Marouillat1,2, R-A Thépault1,2, CR Andres1,2,5, É Lemonnier6,7, C Barthélémy1,2,3, M Raynaud1,2,8, A Toutain1,2,8, M Gomot1,2 and F Laumonnier1,2,8
1INSERM, U930, Tours, France
2Université François-Rabelais, UMR « Imaging and Brain », Tours, France
3Centre Hospitalier Régional Universitaire, Centre Universitaire de pédopsychiatrie, Tours, France
4Université Paris Descartes, Sorbonne Paris Cité, Institut de Psychologie, Laboratoire de Psychopathologie et Processus de Santé (EA 4057), Paris, France
5Centre Hospitalier Régional Universitaire, Service de Biochimie et de Biologie moléculaire, Tours, France
6Centre Hospitalier Universitaire, Centre Expert Autisme, Limoges, France
7Universite de Bretagne occidentale, Laboratoire de neuroscience, Brest, France
8Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France

Molecular Psychiatry, 9 june 2015


Frédéric Laumonnier
Inserm Research Fellow
Inserm Unit 930 « Imagerie et Cerveau »
Tel : 02 47 36 60 62

Frédérique Bonnet-Brilhault
Manager of the Universitary Center of children's Psychiatric Service, CHRU of Tours
Inserm Unit 930 « Imagerie et cerveau »
Tel : 02 47 47 84 12


Access the Inserm press room:

The press release in english :

In french :

INSERM (Institut national de la santé et de la recherche médicale)

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