唐氏综合症退行性障碍的脑血流异常

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology Pub Date : 2025-07-18 DOI:10.1016/j.pediatrneurol.2025.07.007

Mackenzie Silverman MD , Panteha Hayati Rezvan PhD , Benjamin N. Vogel BS , Mariam M. Yousuf BS , Maeve C. Lucas BS , Lilia Kazerooni BS , Saba Jafarpour MD , Jonathan D. Santoro MD

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引用次数: 0

摘要

本研究旨在检测唐氏综合征（DS）和唐氏综合征退行性障碍（DSRD）患者大脑中动脉（MCA）和颈内动脉（ICA）的脑血流速度（CBFV）。方法采用经颅多普勒超声（TCD）对DS和dsd患者的CBFV进行单中心、前瞻性观察研究。以1:1的比例招募无回归和无DSRD的DS个体。TCD研究采用儿童标准化方案进行。结果共纳入104例患者，其中60例（57.7%）患有dsd， 44例（42.3%）仅患有DS。dsd个体的平均MCA值较低(平均差值：−6.89,95%可信区间[CI]:−12.88,−0.90；P = 0.024)和ICA值(- 4.98,95% CI: - 9.58, - 0.38；P = 0.034)。这些差异在左中动脉更明显(- 8.97,95% CI: - 15.89, - 2.06；P = 0.011)和左ICA (- 5.65, 95% CI: - 11.11, - 0.19；P = 0.042)。年龄、血流动力学测量和神经精神疾病严重程度并不能改变dsd和DS患者MCA和ICA的差异。然而，在dsd患者中，MCA值平均下降了- 0.40 (95% CI: - 0.78, - 0.02；P = 0.038)，与DS患者相比，每单位心率增加。本研究显示，与单纯DS相比，dsd患者的CBFV发生了改变，显示MCA和ICA的CBFV均减少。这些发现表明，dsd患者的大脑自动调节被破坏，可能是由紧张症的存在所驱动的。

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Cerebral Blood Flow Abnormalities in Down Syndrome Regression Disorder

Background

This study aimed to examine cerebral blood flow velocity (CBFV) in the middle cerebral artery (MCA) and internal carotid artery (ICA) of individuals with Down syndrome (DS) and Down Syndrome Regression Disorder (DSRD).

Methods

A single-center, prospective observational study was performed to evaluate CBFV in individuals with DS and DSRD using transcranial Doppler (TCD) ultrasound. Individuals with DS without regression and DSRD were recruited in a 1:1 manner. TCD studies were performed using a standardized protocol for children.

Results

In total, 104 individuals were enrolled, with 60 (57.7%) having DSRD and 44 (42.3%) having DS only. Individuals with DSRD had lower average MCA values (mean difference: −6.89, 95% confidence interval [CI]: −12.88, −0.90; P = 0.024) and ICA values (−4.98, 95% CI: −9.58, −0.38; P = 0.034) when compared with individuals with DS only. These differences were more apparent in the left MCA (−8.97, 95% CI: −15.89, −2.06; P = 0.011) and left ICA (−5.65, 95% CI: −11.11, −0.19; P = 0.042). Age, hemodynamic measures, and neuropsychiatric disease severity did not modify the differences in MCA and ICA between patients with DSRD and DS. However, in patients with DSRD, MCA values decreased on average by −0.40 (95% CI: −0.78, −0.02; P = 0.038) for every unit increase in heart rate compared with patients with DS.

Conclusions

This study revealed CBFV alterations in individuals with DSRD when compared with DS alone, demonstrating reduced CBFV in both the MCA and ICA. These findings suggest disrupted cerebral autoregulation, potentially driven by the presence of catatonia in individuals with DSRD.

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来源期刊

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.