Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome can Lead to Long-Term Neurological, Neuropsychological, and Cognitive Sequelae Associated with Cerebellar Atrophy.

IF 2.7 3区 医学 Q3 NEUROSCIENCES
Marina Martinez Popple, Mariasavina Severino, Deborah Preiti, Massimo Conte, Angela Pistorio, Agata Zoia, Costanza Parodi, Domenico Tortora, Valentina Ambrosino, Andrea Rossi, Lino Nobili, Elisa De Grandis
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Abstract

To outline the long-term neuropsychological profile of a pediatric cohort with Opsoclonus-Myoclonus-Ataxia Syndrome (OMAS), and evaluate whether volumetric brain abnormalities correlate with clinical findings years after onset. Twelve patients diagnosed with OMAS between 2008 and 2020 (6 males, mean age 9.6 years, median follow-up 5.4 years) underwent a videorecorded neurological examination and a standardized cognitive and neuropsychological assessment. Patients and 12 age-matched controls underwent advanced 3-Tesla brain MRI studies. Voxel-Based Morphometry (VBM) and targeted cerebellar evaluation using ACAPULCO and ENIGMA pipelines were performed. The results were correlated with neuropsychological scores. Nine subjects (75%) had abnormal neurological findings (dysmetria n = 7, balance deficit n = 7, and speech impairment n = 6). The mean Full-Scale IQ was 76, with borderline IQ in 2 cases, intellectual disability in 5, visuospatial processing impairments in 6, and affective and internalizing issues in 7. Brain MRI and VBM showed mild cerebellar atrophy (41.6%), especially in Crus I-II, IV, VIIIa and VIIb lobules. Reduced gray matter volumes were noted in the precentral, inferior-occipital and middle orbitofrontal gyrus, while larger volumes were found in the ventral diencephalon fusiform and inferior temporal gyri. Lower white matter volumes were found in the cerebellum, superior frontal gyrus, midbrain, postcentral and precentral gyri. Patients with lower cognitive scores, especially in Working Memory and Processing Speed, had smaller volumes in several cerebellar lobules (p = 0.001). Smaller cerebellar volumes correlate with lower cognitive scores at long-term follow-up, confirming not only the role of the cerebellum in the pathogenesis of OMAS, but also its role in cognitive functioning.

小儿眼阵挛-肌阵挛-共济失调综合征可导致与小脑萎缩相关的长期神经学、神经心理学和认知后遗症。
概述患有眼阵挛-肌阵挛-共济失调综合征(OMAS)的儿童队列的长期神经心理学概况,并评估脑容量异常是否与发病数年后的临床表现相关。2008年至2020年间确诊为OMAS的12例患者(6名男性,平均年龄9.6岁,中位随访时间5.4年)接受了录像神经学检查和标准化认知和神经心理学评估。患者和12名年龄匹配的对照组接受了先进的3-特斯拉脑MRI研究。使用ACAPULCO和ENIGMA管道进行基于体素的形态测量(VBM)和针对性小脑评估。结果与神经心理学分数相关。9名受试者(75%)有异常的神经学表现(测量障碍n = 7,平衡障碍n = 7,语言障碍n = 6)。全量表平均智商为76,智商边缘2例,智力障碍5例,视觉空间加工障碍6例,情感和内化问题7例。脑MRI和VBM显示轻度小脑萎缩(41.6%),尤以Crus I-II、IV、viia和VIIb小叶为主。中央前回、枕下回和中眶额回的灰质体积减少,而间脑前部梭状回和颞下回的灰质体积增加。小脑、额上回、中脑、中央后回和中央前回白质体积减少。认知得分较低的患者,特别是在工作记忆和处理速度方面,其几个小脑小叶的体积较小(p = 0.001)。在长期随访中,小脑体积较小与认知评分较低相关,这不仅证实了小脑在OMAS发病机制中的作用,也证实了小脑在认知功能中的作用。
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来源期刊
Cerebellum
Cerebellum 医学-神经科学
CiteScore
6.40
自引率
14.30%
发文量
150
审稿时长
4-8 weeks
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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