Gone are the days when the impotence of therapists led to pointing fingers at the mothers of autistic children, suspected of being insufficiently loving. Thanks to the work of precursors such as Professor Gilbert Lelord, and of a whole generation of young researchers who have followed in his footsteps, we know better the biological and neurological bases of the disease. Autism is not a hereditary or transmissible disease, nevertheless genes are involved: more than 250 are suspected to be linked to the disease. Their systematic study should make it possible to group patients according to the mutations identified and perhaps to identify certain behavioral specificities.
New markers identified
Autism can be detected as young as 2 years old. But the diagnosis is often later. However, the earlier the problems are treated, the better the results. Many teams are therefore looking for markers of the disease. Thus, at the Imagine Institute (Institute of Genetic Diseases-Necker Hospital, Paris) we are working on a “molecular signature” of autism recently identified. Preliminary studies show that several molecules are dysregulated in autistic patients. If confirmed, this discovery could lead to new tools for early diagnosis and help find therapeutic targets.
Creatine supplementation
Imaging (MRI) reveals brain abnormalities in more than one in two autists. Thanks to MRI spectroscopy, we have also been able to observe in some autistic children a creatine deficiency which seems to be responsible for cognitive disorders. “If these children are supplemented with creatine, they are considerably improved” enthuses Professor Arnold Munnich, of the Necker hospital in Paris. This preliminary work concerns only 12 children but they are vectors of immense hopes.
The gut microbiota trail
It all started with an unexpected observation. Autistic children put on antibiotics for angina sometimes see their disorders improve over the course of treatment. This observation led to wonder about an infectious or inflammatory cause of autism, or at least of some of its symptoms. At the FondaMental foundation, Professor Marion Leboyer and her collaborators are exploring the microbiota trail.
The first studies showed abnormalities (dysbioses) of this microbiota in autistic people, often associated with digestive disorders. “50 to 80% of autistic people suffer from severe gastrointestinal disorders” notes Professor Leboyer. “Studies carried out on the spleen have shown that very early infection during pregnancy can modify the flora and lead to signs evoking autistic symptoms. We are only at the beginning of “immunopsychiatry”but this research will help to develop new therapeutic strategies based on probiotics or flora transplantation.
The benefits of magnetic stimulation
“Twenty years ago no one knew what the superior temporal groove was for” explains Professor Monica Zilbovicius of INSERM. His team has shown that this area of the brain plays an essential role in social perception. She highlighted in autistic people a dysfunction of this region, which explains in particular their difficulties in making visual contact with others. Prof. Zilbovicius’ team explores the impact of TMS (transcranial magnetic stimulation) on eye movements.
A first series of experiments on healthy volunteers shows that inhibition of this furrow by TMS leads to looking “like autistic people”, avoiding looking “straight in the eye”. Conversely, for some autistic patients, stimulation by TMS temporarily corrects their gaze… Tomorrow, TMS may be integrated into therapeutic treatments.
An oxytocin spray under study
Oxytocin deficiency is observed in some patients. However, this hormone plays a role in the ability to create social ties and to decipher the emotions of others. Researchers from the FondaMental foundation, but also from the University of Sydney tested oxytocin nasal spray in autistic children. The first results are very encouraging. Many other avenues are in development.
INSERM researchers have shown that a diuretic which acts on Gaba neurotransmitters has a positive impact. Another substance aimed at correcting glutamate receptors in the brain is also showing promise.
Recognized therapies that have proven themselves
After two years of consultations, the High Authority for Health (HAS) recommends:
• the TEACCH program to develop autonomy
• the exchange and development therapy (TED) of Prs Lelord and Barthélemy
• the PECS (image communication system)
• the DENVER model and ABA (behavioral and developmental educational methods).
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