Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

作     者：Itzep, Debora Martinez-Monseny, Antonio F. Bolasell, Merce Cuadras, Daniel Velazquez-Fragua, Ramon Gutierrez-Solana, Luis G. Macaya, Alfons Perez-Duenas, Belen Serrano, Mercedes 

作者机构：Hosp St Joan de Deu Neuropediat Dept Barcelona Spain Hosp St Joan de Deu Radiol Dept Barcelona Spain Hosp St Joan de Deu Clin Biochem Dept Barcelona Spain Inst Salud Carlos III Ctr Biomed Res Rare Dis CIBER ER U 703 Passeig St Joan de Deu 2 Barcelona 08950 Spain Hosp St Joan de Deu Pediat Inst Rare Dis IPER Barcelona Spain Hosp St Joan de Deu Genet Med Dept Barcelona Spain Fundacio St Joan de Deu Stat Dept Barcelona Spain Hosp Univ La Paz Pediat Neurol Dept Madrid Spain Hosp Infantil Univ Nino Jesus Madrid Dept Pediat Unit Child Neurol Madrid Spain Univ Autonoma Barcelona Hosp Univ Vall dHebron Inst Recerca Vall dHebron Grp Recerca Neurol Pediat Barcelona Spain 

出 版 物：《NEUROPEDIATRICS》 (儿童神经病学)

年 卷 期：2018年第49卷第6期

页      面：408-413页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

基　　金：National Plan on I thorn D thorn I [PI14/00021, PI11/01096, PI11/01250, PI17/00101] Fondo Europeo de Desarrollo Regional (FEDER) Spanish CDG Association (AESCDG) ISCIII (Subdireccion General de Evaluacion y Fomento de la Investigacion Sanitaria) 

主　　题：cerebellar syndrome congenital disorders of glycosylation dysarthria magnetic resonance imaging PMM2-CDG 

摘      要：Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively assesses fluency and clarity of speech with two items. Repetition of syllables, traditionally used for characterization of ataxic speech, was validated in earlyonset ataxia conditions. We assess the validity of the PATA test (SCA Functional Index [SCAN]) in PMM2-CDG patients. PATA rates from 20 patients were compared with a control population were and correlated with ICARS and neuroimaging. There was a difference between the PATA rate in patients and controls. PATA rate increased with age in controls. In patients, the improvement of PATA rate with age was not significant. In patients, the PATA rate was negatively correlated with the total ICARS score and the Speech ICARS subscore. Regarding neuroimaging, midsaggital vermin relative diameter was positively correlated with PATA results. These last differences were also significant when the results are corrected by age. PATA rate provides an easy measure for a quantitative assessment of dysarthria that may help clinicians to monitor patients evolution in a regular consultation. It could also be used in PMM2-CDG clinical trials implementing ICARS speech subscore information.