Ben-Ari Yehezkel, Caly Hugues, Rabiei Hamed, Lemonnier Éric
B&A Biomedical, bâtiment Beret-Delaage, parc scientifique et technologique de Luminy, zone Luminy biotech entreprises, 163 avenue de Luminy, 13273 Marseille, France - Neurochlore, bâtiment Beret-Delaage, parc scientifique et technologique de Luminy, zone Luminy biotech entreprises, 163 avenue de Luminy, 13273 Marseille, France.
CHU Limoges, 23 avenue Dominique Larrey, 87042 Limoges, France.
Med Sci (Paris). 2022 May;38(5):431-437. doi: 10.1051/medsci/2022054. Epub 2022 May 24.
Autism Spectrum Disorders (ASD) are born in the womb generated by intrauterine genetic or environmental insult. ASD diagnostic is made at the age of 3-5 years in Europe and in the US. Relying on this, we have tested the hypothesis of identifying already at birth babies who might be diagnosed later with ASD, thereby facilitating an early use of psychoeducative techniques to attenuate the severity of the symptoms. Here, we discuss the various approaches that have been used to enable an early diagnosis. We have ourselves used an approach based on a "without a priori" machine learning analysis of all maternity biological and ultrasound data available in French maternities (around 116) in utero and after birth. This program made it possible to identify at birth almost all (96%) of babies who will be later neurotypical and around half of those who will be diagnosed with ASD. Some of the parameters allowing this identification were largely unexpected with no known links with ASD. This approach will enable an early identification of babies at risk, but also might be used to diagnose ASD later on, and perhaps could help to get a better understanding of the heterogeneity of ASD.
自闭症谱系障碍（ASD）是在子宫内由宫内遗传或环境损伤引发的。在欧洲和美国，ASD的诊断通常在3至5岁时进行。基于此，我们检验了一个假设，即能否在出生时就识别出那些日后可能被诊断为ASD的婴儿，从而便于尽早运用心理教育技术来减轻症状的严重程度。在此，我们探讨了用于实现早期诊断的各种方法。我们自己采用了一种基于“无先验假设”的机器学习分析方法，该方法针对法国约116家妇产医院提供的所有孕期及产后的产妇生物学和超声数据进行分析。这个程序能够在出生时识别出几乎所有（96%）日后神经发育正常的婴儿，以及大约一半日后会被诊断为ASD的婴儿。一些有助于进行这种识别的参数在很大程度上出乎意料，与ASD并无已知关联。这种方法不仅能够早期识别有风险的婴儿，还可能用于日后ASD的诊断，并且或许有助于更好地理解ASD的异质性。
