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自闭症谱系障碍与癫痫:发病机制及治疗意义

Autism Spectrum Disorder and Epilepsy: Pathogenetic Mechanisms and Therapeutic Implications.

作者信息

Giliberti Alessandra, Frisina Adele Maria, Giustiniano Stefania, Carbonaro Ylenia, Roccella Michele, Nardello Rosaria

机构信息

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro", University of Palermo, 90128 Palermo, Italy.

Department of Psychology, Educational Science and Human Movement, University of Palermo, 90128 Palermo, Italy.

出版信息

J Clin Med. 2025 Apr 2;14(7):2431. doi: 10.3390/jcm14072431.

Abstract

The co-occurrence of autism spectrum disorder (ASD) and epilepsy is a complex neurological condition that presents significant challenges for both patients and clinicians. ASD is a group of complex developmental disorders characterized by the following: (1) Social communication difficulties: challenges in understanding and responding to social cues, initiating and maintaining conversations, and developing and maintaining relationships. (2) Repetitive behaviors: engaging in repetitive actions, such as hand-flapping, rocking, or lining up objects. (3) Restricted interests: focusing intensely on specific topics or activities, often to the exclusion of other interests. (4) Sensory sensitivities: over- or under-sensitivity to sensory input, such as sounds, touch, tastes, smells, or sights. These challenges can significantly impact individuals' daily lives and require specialized support and interventions. Early diagnosis and intervention can significantly improve the quality of life for individuals with ASD and their families. Epilepsy is a chronic brain disorder characterized by recurrent unprovoked (≥2) seizures that occur >24 h apart. Single seizures are not considered epileptic seizures. Epilepsy is often idiopathic, but various brain disorders, such as malformations, strokes, and tumors, can cause symptomatic epilepsy. While these two conditions were once considered distinct, growing evidence suggests a substantial overlap in their underlying neurobiology. The prevalence of epilepsy in individuals with ASD is significantly higher than in the general population. This review will explore the epidemiology of this comorbidity, delve into the potential mechanisms linking ASD and epilepsy, and discuss the implications for diagnosis, treatment, and management.

摘要

自闭症谱系障碍(ASD)和癫痫并存是一种复杂的神经疾病,给患者和临床医生都带来了重大挑战。ASD是一组复杂的发育障碍,其特征如下:(1)社交沟通困难:在理解和回应社交线索、发起和维持对话以及建立和维持人际关系方面存在挑战。(2)重复行为:从事重复动作,如拍手、摇晃或排列物品。(3)兴趣受限:强烈专注于特定主题或活动,通常排除其他兴趣。(4)感官敏感:对感官输入过度或不足敏感,如声音、触觉、味道、气味或视觉。这些挑战会对个人的日常生活产生重大影响,需要专门的支持和干预。早期诊断和干预可以显著提高ASD患者及其家庭的生活质量。癫痫是一种慢性脑部疾病,其特征是反复出现无诱因(≥2次)的癫痫发作,发作间隔>24小时。单次发作不被视为癫痫发作。癫痫通常是特发性的,但各种脑部疾病,如畸形、中风和肿瘤,可导致症状性癫痫。虽然这两种疾病曾经被认为是不同的,但越来越多的证据表明它们潜在的神经生物学存在大量重叠。ASD患者中癫痫的患病率明显高于一般人群。本综述将探讨这种共病的流行病学,深入研究ASD和癫痫之间的潜在机制,并讨论对诊断、治疗和管理的影响。

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