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[一种自闭症,多种自闭症。自闭症谱系障碍的表型变异性]

[One autism, several autisms. Phenotypical variability in autism spectrum disorders].

作者信息

Hervas A

机构信息

Hospital Mutua de Terrasa, 08221 Terrassa, Espana.

出版信息

Rev Neurol. 2016;62 Suppl 1:S9-14.

Abstract

INTRODUCTION

Autism spectrum disorders (ASD) are a heterogeneous group of disorders that begin in the early months of life and follow a chronic progression. They have a biological origin, with complex aetiological factors that involve different genetic, epigenetic and environmental mechanisms that interact with one another.

AIM

To review the main factors that vary the presentation of autism taking into account the most recent scientific evidence.

DEVELOPMENT

Aspects related with the development of symptoms, gender, comorbidity, age and aetiology determine the variability in the clinical presentation of ASD.

CONCLUSIONS

Autism is highly heterogeneous and is phenotypically related, at least in part, with a wide range of causations, which researchers have begun to unravel but which are still largely unknown. Aetiological research, especially in the area of genetics, will make it possible to identify different homogeneous subgroups with their corresponding phenotypes, while also opening up the way to possible therapeutic alternatives in the future.

摘要

引言

自闭症谱系障碍(ASD)是一组异质性疾病,始于生命的最初几个月,并呈慢性进展。它们具有生物学起源,病因复杂,涉及不同的遗传、表观遗传和环境机制,这些机制相互作用。

目的

结合最新科学证据,综述影响自闭症表现的主要因素。

进展

与症状发展、性别、共病、年龄和病因相关的方面决定了ASD临床表现的变异性。

结论

自闭症具有高度异质性,至少部分在表型上与多种病因相关,研究人员已开始揭示这些病因,但仍有很大一部分未知。病因学研究,尤其是在遗传学领域,将有助于识别不同的同质亚组及其相应的表型,同时也为未来可能的治疗选择开辟道路。

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