Auditory-perceptual voice and speech evaluation in ATP1A3 positive patients.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Mary E Moya-MendezIhtsham Haq

Abstract

Bulbar symptoms are frequent in patients with rapid-onset dystonia-parkinsonism (RDP). RDP is caused by ATP1A3 mutations, with onset typically within 30 days of stressor exposure. Most patients have impairments in speech (dysarthria) and voice (dysphonia). These have not been quantified. We aimed to formally characterize these in RDP subjects as compared to mutation negative family controls. We analyzed recordings in 32 RDP subjects (male = 21, female = 11) and 29 mutation negative controls (male = 15, female = 14). Three raters, blinded to mutation status, rated speech and vocal quality. Dysarthria was classified by subtype. Dysphonia was rated via the GRBAS (Grade, Roughness, Breathiness, Asthenia, Strain) scale. We used general neurological exams and the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) to assess dysarthria, dystonia, and speech/swallowing dysfunction. The presence of dysarthria was more frequent in RDP subjects compared to controls (72% vs. 17%, p < 0.0001). GRBAS voice ratings were worse in the RDP cohort across nearly all categories. Dysarthria in RDP was associated with concordant cranial nerve 9-11 dysfunction (54%, p = 0.048), speech/swallowing dysfunction (96%, p = 0.0003); and oral dystonia (88%, p =...Continue Reading

References

Dec 1, 1993·Neurology·W B DobynsX O Breakefield
Aug 12, 1999·Annals of Neurology·P L KramerA Brashear
Mar 7, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Cynthia L ComellaUNKNOWN and The Dystonia Study Group
Sep 17, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Christopher G GoetzUNKNOWN Movement Disorder Society Task Force on Rating Scales for Parkinson's Disease
Oct 12, 2004·The Laryngoscope·Clark A RosenThomas Murry
Mar 7, 2006·The Annals of Otology, Rhinology, and Laryngology·Seth M CohenMark S Courey
Feb 7, 2007·Brain : a Journal of Neurology·Allison BrashearLaurie J Ozelius
Mar 6, 2007·Folia Phoniatrica Et Logopaedica : Official Organ of the International Association of Logopedics and Phoniatrics (IALP)·Nelson RoyMarshall E Smith
Jan 15, 2009·The Annals of Otology, Rhinology, and Laryngology·Peter C BelafskyRebecca J Leonard
Apr 15, 2010·Current Opinion in Otolaryngology & Head and Neck Surgery·Nelson Roy
Mar 14, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Anne RoubergueSophie Nicole
Oct 15, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Masayuki SasakiShinichi Hirose
Jan 29, 2014·Orphanet Journal of Rare Diseases·Michelle K DemosUNKNOWN FORGE Canada Consortium
Apr 2, 2014·Journal of Speech, Language, and Hearing Research : JSLHR·Kaitlin L Lansford, Julie M Liss
Feb 19, 2016·Journal of Parkinson's Disease·Heidi MartensMarc De Bodt
Apr 20, 2016·Pediatric Neurology·Roderick P P W M MaasBart P C van de Warrenburg
Mar 16, 2017·Neurology. Genetics·Hendrik RosewichKathryn Swoboda
Dec 25, 2017·Clinical Nutrition : Official Journal of the European Society of Parenteral and Enteral Nutrition·Rosa BurgosStephan C Bischoff
Mar 2, 2018·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Robert J StachlerLorraine C Nnacheta
Apr 6, 2019·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Mary E FingerMustafa S Siddiqui
Jul 31, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Ihtsham U HaqAllison Brashear
Mar 4, 2020·Neurology·Eleni PanagiotakakiUNKNOWN AHC–Movement Disorder Study Group
Apr 14, 2020·The Application of Clinical Genetics·Alessandro CapuanoFederica Graziola

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