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一组唐氏综合征成年患者的神经学检查结果

Neurological findings in a cohort of adults with down syndrome.

作者信息

Grotteschi Nicola, Rochat Magali Jane, Pollarini Virginia, Ghezzo Alessandro, Pellegrini Camilla, Calandra-Buonaura Giovanna, Lodi Raffaele, Tonon Caterina, Cortelli Pietro, Bacalini Maria Giulia, Pirazzoli Gian Luca, Sambati Luisa

机构信息

Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

出版信息

Neurol Sci. 2025 May 13. doi: 10.1007/s10072-025-08195-7.

Abstract

The aim of this study is to describe the results of a comprehensive neurological assessment conducted on a cohort of 70 adults with Down syndrome (DS), aged 21 to 74 years, recruited in Bologna, Italy. Neurocognitive disorder (NcD) was identified in 28.6% of participants and showed a significant association with psychiatric disorders (p=0.03). Psychiatric conditions were present in 40% of the cohort, while Down Syndrome Regression Disorder (DSRD) was diagnosed in 7.1%. Transient loss of consciousness affected 28.6% of individuals. Epilepsy, observed in 7.1%, was significantly associated with NcD (p=0.02). Neurological examination revealed that stereotypic movements correlated with DSRD (p<0.01), tics with obsessive-compulsive disorders (p=0.01), and hypokinetic movement disorders with psychotic conditions (p=0.03). Additionally, nystagmus and cerebellar signs were significantly associated with elevated serum bilirubin levels (p<0.01). These findings underscore the high prevalence and complexity of neurological comorbidities in adults with DS, emphasizing the need for specialized, multidisciplinary care.

摘要

本研究的目的是描述对一组70名年龄在21至74岁之间、来自意大利博洛尼亚的成年唐氏综合征(DS)患者进行全面神经学评估的结果。28.6%的参与者被诊断患有神经认知障碍(NcD),且与精神疾病显著相关(p = 0.03)。40%的队列存在精神疾病,而7.1%被诊断为唐氏综合征衰退障碍(DSRD)。28.6%的个体出现短暂意识丧失。7.1%的人患有癫痫,与NcD显著相关(p = 0.02)。神经学检查显示,刻板运动与DSRD相关(p<0.01),抽动与强迫症相关(p = 0.01),运动减少性运动障碍与精神病性状况相关(p = 0.03)。此外,眼球震颤和小脑体征与血清胆红素水平升高显著相关(p<0.01)。这些发现强调了成年DS患者神经共病的高患病率和复杂性,凸显了提供专门的多学科护理的必要性。

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