Dennis J L G Schutter, Dan Doherty, James O Phillips, Avery H Weiss, Roderick P P W M Maas
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引用次数: 0
摘要
菱脑综合征（Rhombencephalosynapsis，RES）是一种后脑畸形，其特征是小脑蚓部缺失，小脑半球贴合或融合。本临床病例报告全面、纵向地概述了一名 22 岁 RES 患者的认知和情感表现。该患者自幼表现出情绪反应和调节障碍、冲动和执行功能障碍等临床症状。这些特征与后蚓部先天性和后天性异常患者的神经精神症状相符。有研究认为，RES 患者可能会表现出情感和认知障碍，这增加了他们面对心理压力的脆弱性和出现心理健康问题的风险。
Neuropsychiatric Symptoms in Rhombencephalosynapsis: A Clinical Report.
Rhombencephalosynapsis (RES) is a hindbrain malformation characterized by a missing cerebellar vermis with apposition or fusion of the cerebellar hemispheres. The present clinical case report provides a comprehensive, longitudinal overview of cognitive and affective manifestations in a 22-year-old patient with RES. The patient shows clinical signs of emotional reactivity and dysregulation, impulsivity, and impairments in executive functioning since early childhood. These features fit the constellation of neuropsychiatric symptoms observed in patients with congenital and acquired abnormalities of the posterior vermis. It is proposed that patients with RES may show affective and cognitive difficulties which increase their vulnerability to psychological stress and risk of developing mental health issues.
期刊介绍：
Official publication of the Society for Research on the Cerebellum devoted to genetics of cerebellar ataxias, role of cerebellum in motor control and cognitive function, and amid an ageing population, diseases associated with cerebellar dysfunction.
The Cerebellum is a central source for the latest developments in fundamental neurosciences including molecular and cellular biology; behavioural neurosciences and neurochemistry; genetics; fundamental and clinical neurophysiology; neurology and neuropathology; cognition and neuroimaging.
The Cerebellum benefits neuroscientists in molecular and cellular biology; neurophysiologists; researchers in neurotransmission; neurologists; radiologists; paediatricians; neuropsychologists; students of neurology and psychiatry and others.
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