汉语亨廷顿病患者的语言特点

doi:10.24920/003669

摘要/Abstract

摘要：

目的亨廷顿病患者常出现语言障碍。既往研究主要关注于以字母型语言（比如英语）为母语患者的语言特点。汉语是一种象形文字语言,在语音、字形、语义和句法等方面均不同于字母型语言。本研究旨在研究以汉语普通话为母语的亨廷顿病患者的语言障碍特点;同时,比较皮层和皮层下病变患者语言特点的不同。
方法本研究入组5例亨廷顿病患者和5例阿尔茨海默氏病患者。两组在年龄、性别、病程和受教育程度等方面相匹配。所有受试者均以汉语普通话为母语。10例患者均完成病史询问、体格检查、基础测试、遗传测试和神经心理评估。语言能力评价采用汉语失语症评定量表。
结果亨廷顿病患者平均病程5.4±2.97（2~10）年。其语言障碍的表现类似于经皮质运动性失语的临床表现。患者表现出明显的语音异常,以及轻微的语义和句法异常。口语表达时出现声调错误,书面语表达时出现字符结构错误和替换。相比之下,阿尔茨海默氏病患者的语言障碍更为严重,主要表现为全面性失语,语义错误尤为突出。
讨论以汉语普通话为母语的亨廷顿患者的语言障碍类似于经皮质运动性失语,语音障碍突出;而阿尔茨海默氏病患者则表现为更为严重的全面性失语,以语义障碍最明显。

关键词: 亨廷顿病, 阿尔茨海默氏病, 经皮质运动性失语

Abstract:

Objective Linguistic problem is common in Huntington’s disease (HD) patients. It has been studied before in native speakers of alphabetic languages, such as English. As a hieroglyphic language, Chinese differs from alphabetic languages in terms of phonology, morphology, semantics and syntax. We aimed to investigate the linguistic characteristics of manifest HD in native speakers of Mandarin. Meanwhile, we expected to explore the linguistic differences associated with cortical or subcortical pathology.
Methods Five HD patients and five Alzheimer’s disease (AD) patients matched in age, gender, disease course and educational level were enrolled. All the participants were Mandarin native speakers. All finished history inquiry, physical examination, basic test, genetic test and neuropsychological assessment. Language evaluation was performed by Aphasia Battery of Chinese.
Results HD patients had a mean disease course of 5.4±2.97 (range, 2-10) years. They showed a linguistic disorder close to transcortical motor aphasia. They exhibited prominent phonological impairment, as well as slight semantic and syntactic abnormality. Tonic errors were found in speech. Character structural errors and substitutions were detected in writing. In comparison, AD patients showed a more severe linguistic impairment, characterized by global aphasia with more semantic errors.
Conclusion Mandarin-speaking HD patients have a transcortical motor aphasia-like disturbance with prominent phonological impairment, whereas AD patients have a more severe global aphasia with salient semantic impairment.

Key words: Huntington’s disease, Alzheimer’s disease, transcortical motor aphasia

Dong Liling, Liu Caiyan, Mao Chenhui, Chu Shanshan, Li Jie, Huang Xinying, Gao Jing. Linguistic Characteristics of Mandarin-Speaking Huntington’s Disease Patients[J].Chinese Medical Sciences Journal, 2020, 35(3): 207-214.

图/表 6

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Items	HD	AD
Gender (M/F)	3/2	3/2
Age on admission^§ (y/o)	61.0±6.82	55.4±5.32
Age of onset^§ (y/o)	55.6±9.21	50.4±5.59
Disease course^§ (yrs)	5.4±2.97	5.0±1.87
Educational level^§(yrs)	10.4±3.85	13.4±1.95
MMSE^§(score)	24.0±1.22	11.8±7.95
Moca^§(score)	19.8±3.83	8.2±5.76
ADLs^§(score)	23.8±2.49	32.0±16.05
HADS-A^§(score)	1.0±1.41	4.2±3.03
HADS-D^§(score)	1.8±2.49	4.2±4.02
NPI-frequency^§(score)	5.0±5.48	-
NPI-severity^§(score)	4.4±5.13	-
NPI-distress^§(score)	5.6±6.73	-
DSST^§(score)	20.2±4.87	12.0±19.65
TMT-A^§ (s)	121±23.82	171.4±95.78
Clock drawing^§(score)	2.0±0.71	1.4±0.89
Single gesture^§(score)	5.2±1.64	3.8±1.92
Serial gesture^§(score)	1.4±0.89	0.4±0.55
Figure copying^§(score)	9.8±0.45	6.6±4.22
Block design^§(score)	4.7±2.51	2.3±3.90
Rey-copy (score)	17.0±0.00	13.0±7.31
Rey-recall^§(score)	7.0±5.34	2.6±3.97
PAL-sum^§(score)	5.0±1.77	0.8±1.79
PAL-N1^§(score)	1.2±0.57	0.2±0.45
PAL-N2^§(score)	1.9±0.42	0.3±0.67
PAL-N3^§(score)	1.9±1.08	0.3±0.67
Episodic memory^§(score)	4.9±1.78	1.7±1.72
AVLT-I^§(score)	13.0±6.28	5.4±3.78
AVLT-N1^§(score)	3.0±2.00	0.4±0.55
AVLT-N2^§(score)	4.2±1.92	2.6±2.07
AVLT-N3^§(score)	5.8±2.68	2.4±1.82
AVLT-N4^§(score)	3.0±2.83	0.2±0.45
AVLT-N5^§(score)	2.4±2.30	0
AVLT-N6^§(score)	1.4±1.67	0
AVLT-N7^§(score)	12.4±1.67	7.2±6.57
Similarity^§(score)	12.2±6.38	3.0±3.67
Calculation^§(score)	7.0±1.22	2.2±1.64

Case	Gender	Age (yrs)	Disease course (yrs)	Educational level (yrs)	CAG repeats	CSF test (pg/ml)		Brain MRI* (Grade)
Case	Gender	Age (yrs)	Disease course (yrs)	Educational level (yrs)	CAG repeats	Aβ	t-tau	HCN atrophy	FL atrophy	TL atrophy	PL atrophy	OL atrophy
1	Male	57	4	7	39			+	2	2	2	2
2	Male	67	2	6	41	346	50	+	2	1	2	1
3	Female	64	5	15	38			+	2	2	1	2
4	Male	51	10	13	40			+	2	1	2	1
5	Female	66	6	11	41			+	1	1	1	1
6	Female	47	4	14		213	306	-	1	1	1	0
7	Male	58	5	11		267	356	-	1	1	1	1
8	Male	61	5	14		122	425	-	1	2	1	0
9	Male	54	8	16		182	620	-	1	1	1	0
10	Female	57	3	12		140	437	-	1	2	1	0

Case	Screening test (score)				NPI (score)			Cognitive domain* (grade)				Drug treatment
Case	MMSE	Moca	ADLs	HADS-A/D	Frequency	Severity	Distress	Executive	Visuospatial	Memory	Reasoning	Dose	Duration
1	22	17	20	2/0	2	2	2	2	1	2	2	-	-
2	24	17	24	0/0	0	0	0	1	0	2	2	-	-
3	25	21	24	3/4	3	2	3	1	1	2	1	-	-
4	24	18	27	0/5	14	13	17	2	1	3	1	-	-
5	25	26	24	0/0	6	5	6	1	1	1	1	DHT 5 mg/d	6 years
6	23	17	22	6/6	-	-	-	1	0	3	3	DHT 10 mg/d+ MEM 20 mg/d	1 month
7	5	3	23	6/4	-	-	-	3	2	3	3	DHT 10 mg/d	2 months
8	5	3	60	0/0	-	-	-	3	3	3	3	DHT 5 mg/d	1 month
9	9	9	31	7/10	-	-	-	2	2	3	3	MEM 20 mg/d	3 months
10	17	9	24	2/1	-	-	-	2	1	3	3	MEM 15 mg/d	1 month

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