Motor Speech Deficits in Patients with Hereditary Ataxia

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1 Motor Speech Deficits in Patients with Bettina Brendel Hermann Ackermann Theresa Schölderle Wolfram Ziegler ASHA Convention Meeting 2011 November, San Diego Hertie-Institute for Clinical Brain Research

2 Dysarthria in general Ataxic Dysarthria Acquired neurological communication disorders: Apraxia of speech 4% Other neurologic speech disorders 1% Other cognitive language disorders 16% Dysarthria 54% Aphasia 25% = 10,444 patients adapted from Duffy 2005

3 Dysarthria in general Ataxic Dysarthria Acquired neurological communication disorders: Dysarthria 54% Aphasia 25% 10 % = ataxic dysarthria adapted from Duffy 2005

4 Dysarthria in general Ataxic Dysarthria Ataxic dysarthria Articulatory Level imprecise consonants distorted vowels irregular articulatory breakdowns Prosodic Level excess and equal stress monotony prolonged phonemes / intervals slow rate Phonatory Level harshness voice tremor / instability (Darley et al. 1975, Duffy 2005)

5 Dysarthria in general Ataxic Dysarthria Ataxic dysarthria Tumor 3% Inflammatory 4% Toxic/metabolic 5% Multiple 1% Other 1% Traumatic 5% Vascular 13% Degenerative 36% mostly hereditary Undetermined 15% Demyelinating 17% = 166 patients adapted from Duffy 2005

6 General Friedreich s ataxia Spinocerebellar ataxias Hereditary degenerative ataxias progressive neurodegeneration of the cerebellum and its projections several variants of cerebellar pathology autosomal recessive vs. dominant types more than 30 molecular genetic variants very heterogeneous patient group (Schöls et al. 1997, 2004)

7 General Friedreich s ataxia Spinocerebellar ataxias s - Core symptoms: Neurological: progressive ataxia of limb, gait & stance various impairments of ocular movements dysphagia dysarthria Non-neurological: orthopedic deformities diabetes cardiac diseases (Klockgether & Paulson 2011; Schulz et al. 2009)

8 General Friedreich s General ataxia Spinocerebellar Friedreich s ataxias Spinocerebellar ataxias Question hereditary degenerative ataxias homogeneous constellations molecular genetic variants different sites of neurodegeneration What s about the dysarthric profile? Friedreich s ataxia spinocerebellar ataxias type 3 and 6

9 General Friedreich s ataxia Spinocerebellar ataxias Studies investigated dysarthria in: FDRA Ackermann & Hertrich 1993 Eigentler et al Folker et al. 2010, 2011 Hertrich & Ackermann 1993 Joanette & Dudly 1980 Singh et al SCA subtypes Shalling et al Shalling & Hartelius 2004 Sidtis et al Sidtis et al. 2006, 2010 (fmri) Missing: direct comparison

10 General Friedreich s ataxia Spinocerebellar ataxias Friedreich Ataxia (FDRA) Taroni & DiDonato 2004 Degeneration of (among others): cerebellar white matter structures most frequent progressive hereditary ataxia autosomal recessive afferent ataxia (e.g. Schulz et al. 2009) afferent cerebellar projections of brain stem nuclei - incl. trigeminal afferences

11 Spinocerebellar Ataxias - SCA (autosomal dominant) General Friedreich s ataxia Spinocerebellar ataxias SCA6 cerebellar cortical ataxia pure cerebellar SCA3 Taroni & DiDonato, Nature Reviews Neuroscience 5, 2004 multisystemic Machado-Joseph disease most common SCA type

12 s Introduction General Friedreich s ataxia Spinocerebellar ataxias Taroni & DiDonato 2004 FDRA FDRA cerebellar afferent SCA6 cerebellar cortical SCA3 multisystemic

13 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Hertie-Institut for Clinical Brain Research Center of Neurology Department of Neurodegeneration Section Clinical Neurogentics Ataxia Ambulance Head: Ludger Schöls, MD Matthis Synofzik, MD, MA Tobias Lindig, MD

14 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Participants N F/M Age Age of Disease onset duration FDRA 20 9/ (16 71) SCA6 9 5/ (44 80) SCA3 12 9/ (39 62)

15 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Assessment Global measures: Ataxia rating score Intelligibility measurement Overall dysarthria score Detailed dysarthria profile (perceptual analysis) Speech rate measurement (acoustic analysis) sentence repetition syllable repetition (DDK)

16 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Examination of ataxia Scale for the Assessment and Rating of Ataxia (SARA) (Bürk et al. 2009; Schmitz-Hübsch et al. 2006) Gait Stance Sitting Walking Rapid hand movement Heel-to-Shin Finger-to-nose Speech Disturbance max score: 40 = most severe ataxia

17 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Intelligibility measurement Munich Intelligibility Profile (MVP) (Ziegler & Zierdt 2008) 72 words 3 independent rater (different from examiner) word identification out of 16 similar items percentage of correctly understood words (averaged across rater)

18 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Dysarthria score BoDyS - Bogenhausen Dysarthria Scales (Nicola et al. 2004) Perceptual Rating of 12 speech probes 28 speech dimension grouped to 9 scales: RSP ART TEM FLU RES - respiration - articulation - tempo - fluency - resonance VQL VRG VPL - voice quality - voice regularity - pitch / loudness level MOD - modulation

19 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate BoDyS Two-step evaluation of each speech probes: Step 1 Is a given speech dimension present? yes / no? Step 2 Severity rating of each dimension very severe disorder normal

20 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Results Global measures: Ataxia rating score Intelligibility measurement Overall dysarthria score Detailed dysarthria profile (perceptual analysis) Speech rate measurement (acoustic analysis) sentence repetition syllable repetition (DDK)

21 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Global measures: 1) Ataxia scale (without speech subscore) high score = severe ataxia * * FDRA: significant more severe ataxia than SCA groups 4 FDRA SCA6 SCA3

22 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Global measures: 1) Ataxia score * * FDRASCA6 SCA3 2) Intelligibility FDRA SCA6 SCA3 no significant group differences

23 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Global measures: 3) Overall dysarthria score 1) Ataxia score * * ) Intelligibility [%] = 4 no = no impairment 0 = 0 very = very severe FDRASCA6 1 2 SCA FDRA FDRA SCA6 SCA6 SCA3 SCA3 no significant group differences

24 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Results Global measures: Ataxia rating score Intelligibility measurement Overall dysarthria score Detailed dysarthria profile (perceptual analysis) Speech rate measurement (acoustic analysis) sentence repetition syllable repetition (DDK)

25 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate BoDyS dysarthria profile: FDRA 4 4 = no impairment - 0 = very severe TOTAL RSP VQL VRG ART TEM MOD VPL FLU RES RSP = respiration VQL = voice quality VRG = voice regularity ART = articulation TEM = speech tempo MOD = pitch modulation VPL = absolute pitch / loudness FLU = fluency RES = resonance

26 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate BoDyS dysarthria profile: FDRA vs. SCA6 4 4 = no impairment - 0 = very severe TOTAL RSP VQL VRG ART TEM MOD VPL FLU RES no significant group differences RSP = respiration VQL = voice quality VRG = voice regularity ART = articulation TEM = speech tempo MOD = pitch modulation VPL = absolute pitch / loudness FLU = fluency RES = resonance

27 BoDyS dysarthria profile: Introduction Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate FDRA vs. SCA = no impairment - 0 = very severe * * 2 1 TOTAL RSP VQL VRG ART TEM MOD VPL FLU RES RSP = respiration VQL = voice quality VRG = voice regularity ART = articulation TEM = speech tempo MOD = pitch modulation VPL = absolute pitch / loudness FLU = fluency RES = resonance

28 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Results Global measures: Ataxia rating score Intelligibility measurement Overall dysarthria score Detailed dysarthria profile (perceptual analysis) Speech rate measurement (acoustic analysis) sentence repetition syllable repetition (DDK)

29 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Speech rate - Sentences 8 6 controls: signif. highest rate syllables / second 4 2 CON FDRA SCA SCA3 patient groups: SCA3 > FDRA / SCA6

30 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate Speech rate - DDK 8 6 controls: signif. highest rate syllables / second patient groups: SCA3 > FDRA / SCA6 controls: signif. highest rate 4 2 CON FDRA SCA SCA3 patient groups: no signif. differences

31 Participants Assessment Results Global measures Results Dysarthria profile Results Speech rate DDK: Relative syllable irregularity [%] * * CON FDRA SCA6 SCA3

32 Summary deficient features: FDRA SCA6 SCA3 voice quality voice regularity articulation respiration tempo syllable regularity no

33 Conclusion Introduction different sites of neurodegeneration FDRA SCA6 SCA3 dysarthria profile: no differentiation of subgroups ataxic dysarthria involvement of cerebellar cortex irregular syllable productions internal clock required for providing precise temporal representations (Ivry & Keele, 1989; Ivry 1996, Ackermann 2008)

34 Tübingen Many thanks to all the friendly patients! Thank you for your attention!

35 Literature: Ackermann H. (2008). Cerebellar contributions to speech production and speech perception: psycholinguistic and neurobiological perspectives. Trends in Neuroscience 32 (8), Ackermann H. & Hertrich I. (1993). Dysarthria in Friedreich s ataxia: timing of speech segments. Clinical Linguistics & Phonetics 7(1), Bürk K. et al. (2009). Comparison of three clinical rating scales In Friedreich Ataxia (FRDA). Movement Disorders 24 (12), Darley F.L. et al. (1975). Motor speech disorder. Philadelphia: WB Saunders. Duffy J.R. (2005). Motor speech disorders: Substrates, differential diagnosis and management. 2 nd edition. Mosby, St. Louis: Elsevier. Eigentler A. (2011). The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreich s ataxia. J Neurol. DOI /s (online published July 2011). Folker J. et al. (2010). Dysarthria in Friedreich s Ataxia: A perceptual analysis. Folia Phoniatr Logop 62, Folker J. et al. (2011). Kinematic analysis of lingual movements during consonant productions in dysarthric speakers with Friedreich s ataxia: A case-by-case analysis. Clinical Linguistics & Phonetics 25(1), Hertrich I. & Ackermann H. (1993). Dysarthria in Friedreich s ataxia: syllable intensity and fundamental frequency. Clinical Linguistics & Phonetics 7(3), Ivry R.B. (1996). The representation of temporal information in perception and motor control. Current Opinion in Neurobiology 6(6), Ivry R.B. & Keele S.W. (1989). Timing functions of the cerebellum. Journal of Cognitive Neuroscience 1, Joanette Y. & Dudley J.G. (1980). Dysarthric symptomatology of Friedreich s ataxia. Brain & Language 10, Klockgether T. & Paulson H. (2011). Milestones in Ataxia. Movement Disorders 26 (6), Nicola F., Ziegler W. & Vogel, M. (2004). Die Bogenhausener Dysarthrieskalen (BODYS): Ein Instrument für die klinische Dysarthriediagnostik. Forum Logopädie 18, Schmitz-Hübsch T. et al. (2006). Scale for the assessment and rating of ataxia. Development of a new clinical scale. Neurology 66, Schöls L et al. (1997). Friedreich s ataxia: Revision of the phenotype according to molecular genetics. Brain 120: Schöls L et al. (2004). Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3, Schulz J.B. et al. (2009). Diagnosis and treatment of Friedreich ataxia: a European perspective Nat. Rev. Neurol. 5, Sidtis J.J. et al. (2006). Mapping cerebral blood flow during speech production in hereditary ataxia. Neuroimage 31, Sidtis J.J. et al. (2010). Longitudinal cerebral blood flow changes during speech in hereditary ataxia. Brain & Language 114, Sidtis J.J. et al. (2011). Speech characteristics associated with three genotypes of ataxia. Journal of Communication Disorders 44, Singh A. et al. (2010). Clinical Measures of Dysarthria in Friedreich Ataxia. Movement Disorders 25(1), Schalling E. & Hartelius L. (2004). Acoustic analysis of speech tasks performed by three individuals with spinocerebellar ataxia. Folia Phoniatrica et Logopaedica, 56, Schalling E. et al. (2007). Perceptual and acoustic analysis of speech in individuals with spinocerebellar ataxia (SCA). Logopedics, Phoniatrics, Vocology, 32, Taroni F. & DiDonato S. (2004). Pathways to motor incoordination: the inherited ataxias. Nature Reviews Neuroscience 5, Ziegler W. & Zierdt A. (2008). Telediagnostic assessment of intelligibility in dysarthria: a pilot investigation of MVP-online. Journal of Communication Disorders 41,

36 5.4 syllables / second Jan und Hella spielen oft Federball Jan und Hella often play badminton 2.5 syllables / second

37 FDRA baba

38 SCA3 baba

39 SCA6

40 SCA3

41 Voice tremor of ca. 2.7 Hz

43 Taroni & DiDonato, Nature Reviews Neuroscience 5, 2004

or its afferent / efferent pathways From: Prometheus

46 Summary Dysarthria in general Ataxic Dysarthria 10% of all dysarthrias = ataxic damage to the cerebellum or its afferent / efferent pathways From: Prometheus 2009 afferent = cerebellum spinal cord / brain stem

47 Ataxia Introduction Summary Dysarthria in general Ataxic Dysarthria ataxia of the limbs, gait and stance spatial / temporal incoordination of all possible movements dysmetria inability to control range of movement dysdiadochokinesis abnormalities in rate, rhythm, amplitude & precision From: Kandel et al. 1991

Friedreich Ataxia Autosomal recessive Most frequent progressive hereditary ataxia: prevalence in Western Europe per 100,000 people: 0.13 (Finnland) to 4.7 (North of Spain) Germany: 3.1 (Schulz et al.

48 Friedreich Ataxia Autosomal recessive Most frequent progressive hereditary ataxia: prevalence in Western Europe per 100,000 people: 0.13 (Finnland) to 4.7 (North of Spain) Germany: 3.1 (Schulz et al. 2009, Nature) First described by Nicolaus Friedreich ( ) German Physician / Pathologist 1863 About degenerative atrophy of the dorsal columns of the spinal cord ( Über die degenerative Atrophie der spinalen Hinterstränge )

49 Spinocerebellar Ataxia - SCA autosomal dominant progressive 1993 identification of first gene (SCA1) 28 known types today Schöls et al Lancet; Klockgether & Paulson 2011, MovDis genetically and clinically heterogeneous prevalance: 1 4 / 100,000 disease onset: yrs.

50 Scale for the Assessment and Rating of Ataxia (SARA) SARA speech subcore: 0= normal 1= suggestion of speech disturbance 2= impaired but easy to understand 3= occasional words difficult to understand 4= many words difficult to understand 5= single words understandable 6= unintelligible/anarthria

51 Relation: Dysarthria x Ataxia score increasing deficit BoDyS total FDRA r = p =.221 SCA3 r = p =.003 Ataxia (non-speech) increasing deficit SCA6 r = p =.006

52 Relation: Severity of ataxia & dysarthria FDRA no relation severity of dysarthria is independent from ataxia progression SCA3 / SCA6 relation more severe ataxia is related to more prominent dysarthria

53 Relation: Ataxia score & speech dimensions Dependent variables of regression analyses: VQL, VRG, ART, RSP, TEM FDRA VRG = only significant r 2 =.34 r 2 =.72 SCA3 / SCA6 ART = only significant SARA no-speech B (VRG): Constant: B (VRG): Constant: regression estimated value

54 Relation: Ataxia score & dysarthric features FDRA severity of ataxia & voice irregularities (pitch / intensity variation) SCA3 / SCA6 severity of ataxia & reduced articulation

Tyler Phillips Levee M.Cl.Sc (SLP) Candidate University of Western Ontario: School of Communication Sciences and Disorders

Critical Review: Which Speech Symptoms Contribute Most to Reduced Intelligibility in Individuals with Ataxic Dysarthria Secondary to Friedreich s Disease? Tyler Phillips Levee M.Cl.Sc (SLP) Candidate University