Fuijkschot Joris, Maassen Ben, Gorter Jan Willem, Gerven Marjo van, Willemsen Michèl
Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Dev Neurorehabil. 2009 Apr;12(2):106-12. doi: 10.1080/17518420902800944.
To describe speech-language pathology in patients with Sjögren-Larsson syndrome (SLS) in relation to their cognitive and motor impairment.
Observational case series.
Cognitive functioning was assessed in 16 patients with SLS (nine males; seven females) using different neuropsychological tests. Speech-language pathology was studied focusing on dysarthria, oral motor functioning, speech intelligibility and language development. Potential correlations between speech-language pathology and other neurological symptoms (e.g. spasticity) were studied.
The median cognitive developmental age was 5;8 (n = 13; range 3;5-8;0) years. A variable degree of mainly pseudobulbar dysarthria was found. Speech intelligibility was influenced by dysarthria, but was also related to language pathology. No correlation between motor functioning and dysarthria or cognitive development was observed.
Dysarthria and language problems are important factors in daily life functioning of patients with SLS. Based upon the clinical profile found, early speech-language therapy is recommended in order to optimize their speech-language development.
描述舍格伦-拉松综合征(SLS)患者的言语病理学与其认知和运动障碍的关系。
观察性病例系列。
使用不同的神经心理学测试对16例SLS患者(9例男性;7例女性)的认知功能进行评估。重点研究言语病理学,包括构音障碍、口腔运动功能、言语可懂度和语言发育。研究言语病理学与其他神经症状(如痉挛)之间的潜在相关性。
认知发育年龄中位数为5岁8个月(n = 13;范围3岁5个月 - 8岁0个月)。发现主要为假性球麻痹性构音障碍的不同程度表现。言语可懂度受构音障碍影响,但也与语言病理学有关。未观察到运动功能与构音障碍或认知发育之间的相关性。
构音障碍和语言问题是SLS患者日常生活功能的重要因素。基于所发现的临床特征,建议早期进行言语治疗以优化其言语 - 语言发育。