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

@article{Itzep2018ClinicalAO,
  title={Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.},
  author={D{\'e}bora Itzep and Antonio Martinez-Monseny and Merc{\`e} Bolasell and Daniel Cuadras and Ram{\'o}n Vel{\'a}zquez-Fragua and Luis Gonz{\'a}lez Guti{\'e}rrez-Solana and Alfons Macaya and Bel{\'e}n P{\'e}rez-Due{\~n}as and Mercedes Serrano},
  journal={Neuropediatrics},
  year={2018},
  volume={49 6},
  pages={
          408-413
        }
}
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 early-onset ataxia conditions. We assess the validity of the PATA test (SCA Functional Index… CONTINUE READING

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