Neurological Rehabilitation, Autonomous Metropolitan University, Calz. Del Hueso 1100, Col Villa Quietud, Coyoacan, 04960, Mexico City, Mexico.
Department of Neurology, National Institute of Pediatrics, Av. Insurgentes Sur 3700-C. Col Insurgentes Cuicuilco, Coyoacan, 04530, Mexico City, Mexico.
Cerebellum. 2024 Apr;23(2):363-373. doi: 10.1007/s12311-023-01529-1. Epub 2023 Feb 21.
Ataxia-telangiectasia (A-T) is a disease caused by mutations in the ATM gene (11q22.3-23.1) that induce neurodegeneration Sasihuseyinoglu AS et al. Pediatr Allergy Immunol Pulmonol 31(1):9-14, 2018, Teive HAG et al. Parkinsonism Relat Disord 46:3-8, 2018. Clinically, A-T is characterized by ataxia, mucocutaneous telangiectasia, immunodeficiency, and malignancy. Movement disorders have been the most described and well-studied symptoms of A-T. Other studies have reported visuospatial processing disorders, executive function disorders and emotional regulation disorders, which are clinical manifestations that characterize cerebellar cognitive affective syndrome (CCAS) Choy KR et al. Dev Dyn 247(1):33-46, 2018. To describe the neurocognitive and emotional state of pediatric patients with ataxia-telangiectasia and to discuss whether they have cerebellar cognitive affective syndrome. This observational, cross-sectional, and descriptive study included 9 patients with A-T from May 2019 to May 2021. A complete medical history was retrieved, and tests were applied to assess executive functions, visual-motor integration and abilities, language, psychological disorders, and ataxia. Six girls and 3 boys agreed to participate. The age range was 6 to 14 years. The participants included five schoolchildren and four teenagers. Eight patients presented impaired executive functioning. All patients showed some type of error in copying and tracing (distortion) in the performance of visual perceptual abilities. Emotional disorders such as anxiety and depression were observed in six patients. Eight patients presented with dyslalia and impairments in word articulation, all patients presented with ataxia, and seven patients used a wheelchair. All patients presented symptoms consistent with CCAS and had variable cognitive performance.
共济失调毛细血管扩张症（A-T）是由 ATM 基因（11q22.3-23.1）突变引起的疾病，会导致神经退行性变。Sasihuseyinoglu AS 等人，《儿科过敏免疫与肺病学杂志》31（1）：9-14，2018 年；Teive HAG 等人，《帕金森病相关疾病》46：3-8，2018 年。临床上，A-T 的特征是共济失调、黏膜毛细血管扩张、免疫缺陷和恶性肿瘤。运动障碍是 A-T 最常见和研究最多的症状。其他研究还报告了视空间处理障碍、执行功能障碍和情绪调节障碍，这些都是小脑认知情感综合征（CCAS）的临床表现。Choy KR 等人，《发育动力学》247（1）：33-46，2018 年。描述儿童 A-T 患者的神经认知和情绪状态，并讨论他们是否患有小脑认知情感综合征。这是一项观察性、横断面和描述性研究，纳入了 2019 年 5 月至 2021 年 5 月期间的 9 名 A-T 患者。回顾了完整的病史，并进行了测试，以评估执行功能、视觉运动整合和能力、语言、心理障碍和共济失调。6 名女孩和 3 名男孩同意参与。年龄范围为 6 至 14 岁。参与者包括 5 名小学生和 4 名青少年。8 名患者存在执行功能障碍。所有患者在进行视觉感知能力的测试时，都表现出某种类型的复制和追踪（失真）错误。6 名患者出现焦虑和抑郁等情绪障碍。8 名患者出现构音障碍和言语表达障碍，所有患者均出现共济失调，7 名患者使用轮椅。所有患者均表现出符合 CCAS 的症状，且认知表现存在差异。
