Suppr超能文献

前驱期亨廷顿病的个体内变异性及其与遗传负荷的关系。

Intra-individual Variability in Prodromal Huntington Disease and Its Relationship to Genetic Burden.

作者信息

Musso Mandi, Westervelt Holly James, Long Jeffrey D, Morgan Erin, Woods Steven Paul, Smith Megan M, Lu Wenjing, Paulsen Jane S

机构信息

1Department of Psychiatry and Human Behavior,Warren Alpert Medical School of Brown University,Providence,Rhode Island.

3Department of Psychiatry,University of Iowa Carver College of Medicine,Iowa City,Iowa.

出版信息

J Int Neuropsychol Soc. 2015 Jan;21(1):8-21. doi: 10.1017/S1355617714001076.

Abstract

The current study sought to examine the utility of intra-individual variability (IIV) in distinguishing participants with prodromal Huntington disease (HD) from nongene-expanded controls. IIV across 15 neuropsychological tasks and within-task IIV using a self-paced timing task were compared as a single measure of processing speed (Symbol Digit Modalities Test [SDMT]) in 693 gene-expanded and 191 nongene-expanded participants from the PREDICT-HD study. After adjusting for depressive symptoms and motor functioning, individuals estimated to be closest to HD diagnosis displayed higher levels of across- and within-task variability when compared to controls and those prodromal HD participants far from disease onset (F ICV(3,877)=11.25; p<.0001; F PacedTiming(3,877)=22.89; p<.0001). When prodromal HD participants closest to HD diagnosis were compared to controls, Cohen's d effect sizes were larger in magnitude for the within-task variability measure, paced timing (-1.01), and the SDMT (-0.79) and paced tapping coefficient of variation (CV) (-0.79) compared to the measures of across-task variability [CV (0.55); intra-individual standard deviation (0.26)]. Across-task variability may be a sensitive marker of cognitive decline in individuals with prodromal HD approaching disease onset. However, individual neuropsychological tasks, including a measure of within-task variability, produced larger effect sizes than an index of across-task IIV in this sample.

摘要

本研究旨在探讨个体内变异性(IIV)在区分前驱期亨廷顿病(HD)患者与非基因扩增对照者方面的效用。在来自PREDICT-HD研究的693名基因扩增参与者和191名非基因扩增参与者中,比较了15项神经心理学任务的个体内变异性以及使用自定步速计时任务的任务内变异性,将其作为处理速度的单一指标(符号数字模式测验[SDMT])。在对抑郁症状和运动功能进行校正后,与对照组以及距离疾病发作较远的前驱期HD参与者相比,估计最接近HD诊断的个体在任务间和任务内的变异性水平更高(F ICV(3,877)=11.25;p<.0001;F PacedTiming(3,877)=22.89;p<.0001)。将最接近HD诊断的前驱期HD参与者与对照组进行比较时,与任务间变异性指标[变异系数(CV)(0.55);个体内标准差(0.26)]相比,任务内变异性指标、定步速计时(-1.01)、SDMT(-0.79)和定步速敲击变异系数(CV)(-0.79)的科恩d效应量在大小上更大。任务间变异性可能是接近疾病发作的前驱期HD个体认知衰退的一个敏感指标。然而,在本样本中,包括任务内变异性指标在内的个体神经心理学任务产生的效应量比任务间个体内变异性指数更大。

相似文献

1
Intra-individual Variability in Prodromal Huntington Disease and Its Relationship to Genetic Burden.
J Int Neuropsychol Soc. 2015 Jan;21(1):8-21. doi: 10.1017/S1355617714001076.
2
Cognitive decline in prodromal Huntington Disease: implications for clinical trials.
J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1233-9. doi: 10.1136/jnnp-2013-305114. Epub 2013 Aug 2.
3
Self-paced timing detects and tracks change in prodromal Huntington disease.
Neuropsychology. 2010 Jul;24(4):435-42. doi: 10.1037/a0018905.
4
Cognitive and behavioral changes in Huntington disease before diagnosis.
Handb Clin Neurol. 2017;144:69-91. doi: 10.1016/B978-0-12-801893-4.00006-7.
5
Neurocognitive signs in prodromal Huntington disease.
Neuropsychology. 2011 Jan;25(1):1-14. doi: 10.1037/a0020937.
6
Characterization of depression in prodromal Huntington disease in the neurobiological predictors of HD (PREDICT-HD) study.
J Psychiatr Res. 2013 Oct;47(10):1423-31. doi: 10.1016/j.jpsychires.2013.05.026. Epub 2013 Jun 19.
8
Cognitive reserve and brain reserve in prodromal Huntington's disease.
J Int Neuropsychol Soc. 2013 Aug;19(7):739-50. doi: 10.1017/S1355617713000507. Epub 2013 May 23.
10
Progression in prediagnostic Huntington disease.
J Neurol Neurosurg Psychiatry. 2010 Apr;81(4):379-84. doi: 10.1136/jnnp.2009.176982. Epub 2009 Sep 1.

引用本文的文献

3
Self-perceived cognitive fluctuations and their relationship to everyday functioning in older adults with and without HIV disease.
Clin Neuropsychol. 2024 Jul;38(5):1085-1108. doi: 10.1080/13854046.2023.2282728. Epub 2023 Nov 21.
4
Moving intra-individual variability (IIV) towards clinical utility: IIV measured using a commercial testing platform.
J Neurol Sci. 2023 Mar 15;446:120586. doi: 10.1016/j.jns.2023.120586. Epub 2023 Feb 12.
5
Lower prospective memory is associated with higher neurocognitive dispersion in two samples of people with HIV: A conceptual replication study.
J Int Neuropsychol Soc. 2023 Aug;29(7):677-685. doi: 10.1017/S1355617722000698. Epub 2023 Feb 8.
8
Non-Verbal and Verbal Fluency in Prodromal Huntington's Disease.
Dement Geriatr Cogn Dis Extra. 2015 Dec 18;5(3):517-29. doi: 10.1159/000441942. eCollection 2015 Sep-Dec.

本文引用的文献

1
Tracking motor impairments in the progression of Huntington's disease.
Mov Disord. 2014 Mar;29(3):311-9. doi: 10.1002/mds.25657. Epub 2013 Oct 21.
2
Cognitive decline in prodromal Huntington Disease: implications for clinical trials.
J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1233-9. doi: 10.1136/jnnp-2013-305114. Epub 2013 Aug 2.
4
Depressive symptom severity is related to poorer cognitive performance in prodromal Huntington disease.
Neuropsychology. 2012 Sep;26(5):664-9. doi: 10.1037/a0029218. Epub 2012 Jul 30.
5
Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease.
J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):687-94. doi: 10.1136/jnnp-2011-301940. Epub 2012 May 7.
7
Cognitive domains that predict time to diagnosis in prodromal Huntington disease.
J Neurol Neurosurg Psychiatry. 2012 Jun;83(6):612-9. doi: 10.1136/jnnp-2011-301732. Epub 2012 Mar 26.
9
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8.
10
Neuropsychological intra-individual variability explains unique genetic variance of ADHD and shows suggestive linkage to chromosomes 12, 13, and 17.
Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):131-40. doi: 10.1002/ajmg.b.32018. Epub 2012 Jan 5.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验