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Autism spectrum disorders, such as Rett syndrome, are usually diagnosed as early as a few years old, but neuroscientists believe they have developed an AI system that can detect these conditions earlier in life. Child by detecting abnormalities of dilatation and cardiac rhythm of the pupils.
Abnormal dilatation of the pupils and heart rate: an early indicator of autism?
Typically, an autism spectrum disorder (ASD) is diagnosed in a child a few years old and its behavior, speech and occupational therapies are ineffective. Today, thanks to an automatic learning algorithm developed by neuroscientists in collaboration with the Boston Children's Hospital, the diagnosis of ASDs such as Rett syndrome could occur much sooner than what is currently possible.
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Michela Fagiolini, PhD, and Pietro Artoni, PhD, published a new article in PNAS this week, she can identify abnormalities in the numbering of students and heart rates of a child, which can predict earlier than expected months, or years, of ASD.
"We want to get a glimpse of what is happening in the brain in a quantitative, objective and sensitive to subtle changes," said Fagiolini. "More generally, we lack biomarkers that reflect brain activity, which are easy to quantify and unbiased. A machine could measure a biomarker and not be affected by subjective interpretations of how the patient behaves."
The researchers, in collaboration with Takao Hensch, PhD, and Charles Nelson, PhD, of the Boston Children's Hospital, have begun researching predictive indicators of pupil dilation and heart rate of children, in the US. the hypothesis that people with ASD would have impaired behavior. Previous work has shown that cholinergic circuits in the brain, which are partially responsible for badual arousal, are particularly affected, resulting in abnormal dilatation of the pupil and heart rates.
Researchers measured pupil dilation and heart rate in mice with genetic mutations responsible for Rett syndrome or CDKL5 disease and found that mice had abnormal pupil dilation and heart rate well before symptoms Behavioral disorders do not become manifest.
In addition, restoring a working copy of the MeCP2 gene – the mutated gene responsible for Rett's syndrome – to neurons in cholinergic brain circuits alone prevented the development of pupil dilation anomalies and symptoms. behavioral disorder.
Identify Rett syndrome in young girls
After observing mice with specific genetic deficiencies for about 60 hours, the researchers developed a network of neurons to detect pupillary abnormalities. They then took this AI and tested 35 girls with Rett Syndrome, including 40 without ASD as a control. The AI was able to identify Rett syndrome with a precision of about 80% in girls of 1 and 2 years old.
"These two biomarkers fluctuate in a similar way as they are approximations of the activity of autonomous excitation," Artoni said. "It's the so-called" fight or flight response. "
Taken together with previous tests developed by Fagiolini and Nelson for Rett syndrome, the researchers believe that these biomarkers could be an effective and affordable screening tool for infants, alerting parents and doctors to impending developmental problems.
"If we have noninvasive and easy-to-evaluate biomarkers, even a newborn or a nonverbal patient could be monitored over multiple time points," Fagiolini said.
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