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多微小脑回畸形患者的言语、语言和口运动技能。

Speech, Language, and Oromotor Skills in Patients With Polymicrogyria.

机构信息

From Murdoch Children's Research Institute (R.O.B., J.O.B., C.A.S., K.P., R.J.L., I.E.S., A.T.M.); Departments of Audiology and Speech Pathology (R.O.B., J.O.B., A.T.M.) and Paediatrics (C.A.S., R.J.L., I.E.S.), University of Melbourne; The Royal Children's Hospital (C.A.S., K.P., R.J.L., I.E.S., A.T.M.); Victorian Clinical Genetics Service (C.A.S., K.P.), Parkville, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; Austin Health (I.E.S.), Heidelberg, Victoria; and Florey Institute of Neuroscience and Mental Health (I.E.S.), Parkville, Victoria, Australia.

出版信息

Neurology. 2021 Apr 6;96(14):e1898-e1912. doi: 10.1212/WNL.0000000000011698. Epub 2021 Feb 15.

Abstract

OBJECTIVE

To determine whether specific speech, language, and oromotor profiles are associated with different patterns of polymicrogyria, we assessed 52 patients with polymicrogyria using a battery of standardized tests and correlated findings with topography and severity of polymicrogyria.

METHODS

Patients were identified via clinical research databases and invited to participate, irrespective of cognitive and verbal language abilities. We conducted standardized assessments of speech, oromotor structure and function, language, and nonverbal IQ. Data were analyzed according to normative assessment data and descriptive statistics. We conducted a correlation analysis between topographic pattern and speech and language findings.

RESULTS

Fifty-two patients (33 male, 63%) were studied at an average age of 12.7 years (range 2.5-36 years). All patients had dysarthria, which ranged from mild impairment to anarthria. Developmental speech errors (articulation and phonology), oral motor structure and function deficits, and language disorder were frequent. A total of 23/29 (79%) had cognitive abilities in the low average to extremely low range. In the perisylvian polymicrogyria group (36/52), speech, everyday language, and oral motor impairments were more severe, compared to generalized (1 patient), frontal (3), polymicrogyria with periventricular nodular heterotopia (3), parasagittal parieto-occipital (1), mesial occipital (1), and other (7) patterns.

CONCLUSIONS

Dysarthria is a core feature of polymicrogyria, often accompanied by receptive and expressive language impairments. These features are associated with all polymicrogyria distribution patterns and more severe in individuals with bilateral polymicrogyria, particularly in the perisylvian region.

摘要

目的

通过评估 52 例巨脑回畸形患者使用一系列标准化测试,确定特定的言语、语言和口运动特征是否与不同类型的巨脑回畸形模式相关,我们发现与巨脑回畸形的位置和严重程度相关。

方法

通过临床研究数据库确定患者,并邀请其参与研究,无论认知和言语语言能力如何。我们对言语、口运动结构和功能、语言和非言语智商进行了标准化评估。根据规范评估数据和描述性统计分析数据。我们对地形模式与言语和语言发现之间进行了相关分析。

结果

52 例患者(33 例男性,63%)的平均年龄为 12.7 岁(2.5-36 岁)。所有患者均存在构音障碍,从轻度损害到无言语能力。发育性言语错误(发音和语音)、口腔运动结构和功能缺陷以及语言障碍较为常见。23/29(79%)例患者的认知能力处于低平均水平到极低水平。在侧脑室周围巨脑回畸形组(36/52)中,与广泛性(1 例)、额叶(3 例)、伴有室周结节性异位的巨脑回畸形(3 例)、矢状旁顶枕部(1 例)、内侧枕叶(1 例)和其他(7 例)类型相比,言语、日常语言和口腔运动障碍更为严重。

结论

构音障碍是巨脑回畸形的核心特征,常伴有接受和表达性语言障碍。这些特征与所有巨脑回畸形分布模式相关,在双侧巨脑回畸形患者中更为严重,尤其是在侧脑室周围区域。

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