OBJECTIVES Rhombencephalosynapsis (RES) is a very rare cerebellar malformation. Neurodevelopmental outcome of apparently isolated RES remains poorly documented and standardized cognitive assessment, reported in only nine published cases so far, is lacking. Prenatal counselling is challenging considering the uncertain prognosis of isolated RES. The aim of this study was to focus on cognitive and motor outcome of isolated RES with a clinical description of six new cases and a detailed review of the literature. METHODS A single-centre retrospective study of all RES patients over a 15-year period. Ataxia and fine motor skills were scored using a five-grade scale, according to the degree of disturbance of daily living. Intelligence Quotient (IQ) was established according to age-related Weschler Intelligence Scales. A systematic literature review included published cases with relevant outcome data. RESULTS Six new cases of apparently isolated RES were reported, including three diagnosed in prenatal settings. The onset age for walking was delayed in four patients. Three patients had head shaking and three had a strabismus. One patient had a mild motor disability, one had subtle ataxia that did not impair daily life and four patients had a normal neurological examination at the last visit. Intellectual abilities were normal in all patients (full IQ score from 90 to 142), although three had ADHD. All received standard schooling. Based on these six new cases, as well as cases from 12 publications in the literature, a total of 28 patients with non-syndromic RES were analysed. Concerning motor outcome, 72% had no complaint or minimal impairment, 16% moderate and 12% severe impairment. Concerning cognitive outcome, 68% had normal cognitive skills, 18% borderline intellectual functioning and 14% moderate to severe disability.

中文翻译：

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菱形脑联会患者的正常智力技能

目的 菱形脑联会 (RES) 是一种非常罕见的小脑畸形。明显孤立的 RES 的神经发育结果仍然缺乏记录和标准化的认知评估，目前仅在九个已发表的案例中报告，缺乏。考虑到孤立性 RES 的不确定预后，产前咨询具有挑战性。本研究的目的是通过对六个新病例的临床描述和对文献的详细回顾，关注孤立 RES 的认知和运动结果。方法 对所有 RES 患者进行为期 15 年的单中心回顾性研究。根据日常生活障碍的程度，使用五级量表对共济失调和精细运动技能进行评分。智商 (IQ) 是根据与年龄相关的 Weschler 智力量表建立的。系统的文献综述包括已发表的病例和相关的结果数据。结果 报告了 6 例明显孤立的 RES 新病例，其中 3 例是在产前诊断的。4 名患者开始行走的年龄有所延迟。三名患者摇头，三名患者斜视。一名患者有轻度运动障碍，一名患者有不影响日常生活的轻微共济失调，四名患者在最后一次就诊时神经系统检查正常。所有患者的智力都正常（智商总分从 90 分到 142 分），尽管有 3 名患者患有多动症。所有人都接受了标准的教育。基于这 6 例新病例，以及 12 篇文献中的病例，共分析了 28 例非综合征型 RES 患者。关于运动结果，72% 没有抱怨或有轻微损伤，16% 的中度损伤和 1​​2% 的严重损伤。关于认知结果，68% 的人具有正常的认知技能，18% 的人具有边缘智力功能，14% 的人有中度至重度残疾。