Developmental change of brain volume in Rett syndrome in Taiwan.

IF 4.1 2区医学 Q1 CLINICAL NEUROLOGY Journal of Neurodevelopmental Disorders Pub Date : 2024-07-03 DOI:10.1186/s11689-024-09549-6

Tz-Yun Jan, Lee-Chin Wong, Chia-Jui Hsu, Chien-Feng Judith Huang, Steven Shinn-Forng Peng, Wen-Yih Isaac Tseng, Wang-Tso Lee

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Abstract

Objective: Rett syndrome (RTT) is characterized by neurological regression. This pioneering study investigated the effect of age on brain volume reduction by analyzing magnetic resonance imaging findings in participants with RTT, ranging from toddlers to adults.

Methods: Functional evaluation and neuroimaging were performed. All scans were acquired using a Siemens Tim Trio 3 T scanner with a 32-channel head coil.

Results: The total intracranial volume and cerebral white matter volume significantly increased with age in the control group compared with that in the RTT group (p < 0.05). Cortical gray matter volume reduction in the RTT group continued to increase in bilateral parietal lobes and left occipital lobes (p < 0.05). The differences in cortical gray matter volume between typically developing brain and RTT-affected brain may tend to continuously increase until adulthood in both temporal lobes although not significant after correction for multiple comparison.

Conclusions: A significant reduction in brain volume was observed in the RTT group. Cortical gray matter volume in the RTT group continued to reduce in bilateral parietal lobes and left occipital lobes. These results provide a baseline for future studies on the effect of RTT treatment and related neuroscience research.

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台湾Rett综合症患者脑容量的发育变化。

目的雷特综合征（RTT）的特征是神经系统退化。这项开创性的研究通过分析从幼儿到成人的 RTT 患者的磁共振成像结果，研究了年龄对脑容量减少的影响：方法：进行功能评估和神经成像。所有扫描均使用西门子Tim Trio 3 T扫描仪和32通道头部线圈采集：结果：与 RTT 组相比，对照组的颅内总容积和脑白质容积随年龄的增长而显著增加（PRTT 组的脑容量明显减少。在 RTT 组中，双侧顶叶和左枕叶的皮质灰质体积继续减少。这些结果为今后研究 RTT 治疗效果和相关神经科学研究提供了基线。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Neurodevelopmental Disorders 医学-临床神经学

CiteScore

7.60

自引率

4.10%

发文量

审稿时长

>12 weeks

期刊介绍： Journal of Neurodevelopmental Disorders is an open access journal that integrates current, cutting-edge research across a number of disciplines, including neurobiology, genetics, cognitive neuroscience, psychiatry and psychology. The journal’s primary focus is on the pathogenesis of neurodevelopmental disorders including autism, fragile X syndrome, tuberous sclerosis, Turner Syndrome, 22q Deletion Syndrome, Prader-Willi and Angelman Syndrome, Williams syndrome, lysosomal storage diseases, dyslexia, specific language impairment and fetal alcohol syndrome. With the discovery of specific genes underlying neurodevelopmental syndromes, the emergence of powerful tools for studying neural circuitry, and the development of new approaches for exploring molecular mechanisms, interdisciplinary research on the pathogenesis of neurodevelopmental disorders is now increasingly common. Journal of Neurodevelopmental Disorders provides a unique venue for researchers interested in comparing and contrasting mechanisms and characteristics related to the pathogenesis of the full range of neurodevelopmental disorders, sharpening our understanding of the etiology and relevant phenotypes of each condition.