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首页> 外文期刊>Nordic journal of psychiatry. >The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture
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The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture

机译：ESSENCE的遗传学和神经生物学：第三届Birgit Olsson演讲

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ESSENCE refers to early symptomatic syndromes eliciting neurodevelopmental clinical examinations. It includes a broad range of early onset neurodevelopmental disorders affecting more than 10% of children before 5 years of age. ESSENCE includes among others attention deficit hyperactivity disorder (ADHD), intellectual disability (ID) and autism spectrum disorders (ASD). Some degree of disability is the rule rather than the exception. The causes are heterogeneous ranging from extreme social deprivation, pre- and perinatal risk factors, genetic and metabolic diseases, immune and infectious disorders, nutritional factors, physical trauma, and postnatal toxic and environmental factors (and combinations/interactions of some or several of these). Treatments often involve a combination of psychoeducational interventions, home- and school-based programmes, and medication. Here, I will first briefly review our main knowledge on the biological pathways associated with early onset neurodevelopmental disorders and will provide useful links to be informed of the progress in the field. Five main pathways are associated with ASD and ID: chromatin remodelling, cytoskeleton dynamics, mRNA translation, metabolism and synapse formation/function. I will then detail three propositions coming from institutions, researchers and/or communities of patients and families to foster research: 1) to use more dimensional and quantitative data than diagnostic categories; 2) to increase data sharing and research on genetic and brain diversity in human populations; 3) to involve patients and relatives as participants for research. Finally, I will provide examples of very stimulating initiatives towards a more inclusive world for individuals with ESSENCE.
机译：本质是指引起神经发育临床检查的早期症状综合症。它包括范围广泛的各种早发性神经发育障碍，影响5岁以上儿童的10％以上。 ESSENCE包括注意缺陷多动障碍（ADHD），智力障碍（ID）和自闭症谱系障碍（ASD）。一定程度的残疾是规则，而不是例外。原因多种多样，包括极端的社会剥夺，产前和围产期风险因素，遗传和代谢疾病，免疫和传染性疾病，营养因素，身体创伤以及产后毒性和环境因素（以及其中一些或几种的组合/相互作用） ）。治疗通常涉及心理教育干预，家庭和学校课程以及药物治疗。在这里，我将首先简要回顾一下我们与早期发作的神经发育障碍相关的生物学途径的主要知识，并将提供有用的链接以告知该领域的进展。五个主要途径与ASD和ID相关：染色质重塑，细胞骨架动力学，mRNA翻译，代谢和突触形成/功能。然后，我将详细介绍来自机构，研究人员和/或患者和家庭社区的三个主张，以促进研究：1）使用比诊断类别更多的维度和定量数据; 2）增加数据共享，并研究人类基因和大脑多样性; 3）让患者和亲属参与研究。最后，我将提供一些示例，这些示例对于ESSENCE个人朝着更具包容性的世界迈进了非常令人振奋的举措。

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