Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Por:
Debora Coritza Itzep Perez, Martinez-Monseny T, Bolasell M, Cuadras-Palleja D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M
Publicada:
1 dic 2018
Ahead of Print:
10 oct 2018
Resumen:
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.
Filiaciones:
Debora Coritza Itzep Perez:
Neuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, Barcelona, Spain
U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain
Martinez-Monseny T:
Pediatric Institute of Rare Diseases (IPER) and Genetic Medicine Department, Hospital Sant Joan de Déu, Barcelona, Spain
Bolasell M:
Pediatric Institute of Rare Diseases (IPER) and Genetic Medicine Department, Hospital Sant Joan de Déu, Barcelona, Spain
Cuadras-Palleja D:
Statistics Department, Fundació Sant Joan de Déu, Barcelona, Spain
Velázquez-Fragua R:
Pediatric Neurology Department, Hospital Universitario La Paz, Madrid, Spain
Gutierrez-Solana LG:
Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, Madrid, Spain
Macaya A:
Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma Barcelona, Hospital Universitari Vall d'Hebron, Spain
Pérez-Dueñas B:
Neuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, Barcelona, Spain
U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain
Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma Barcelona, Hospital Universitari Vall d'Hebron, Spain
Serrano M:
Neuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, Barcelona, Spain
U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain
Pediatric Institute of Rare Diseases (IPER) and Genetic Medicine Department, Hospital Sant Joan de Déu, Barcelona, Spain
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