the relationship between muscle characteristics and speech ... · resume in dmd: • tongue is...

The relationship between muscle characteristics and speech in Duchenne musculardystrophy, using ultrasound.

Dr. Simone Knuijt, speech-language pathologist and researcher

Radboudumc, Nijmegen

Outline

• Duchenne muscular dystrophy

• Previous work• Muscle characteristics related to speech• Current research

Lenie van den Engel-Hoek, Marloes Lagarde, Simone Knuijt, Janna Maas

Duchenne muscular dystrophy (DMD)

• Severe hereditary muscle disease, progressive

• Recessive, linked to X-chromosome• Women are carrier, boys are affected

• Mutations and deletions in the dystrophin gene

• Muscle fibers are interspersed with fibrosis and fat

Stages of DMD

• Presymptomatic

Jungyoon Kim et al. A New Functional Scale and Ambulatory Functional Classification of Duchenne Muscular Dystrophy: Scale Development and Preliminary Analyses of Reliability and Validity. Annals of Rehabilitation Medicine 2018;42(5):690-701.

Stages of DMD

• Presymptomatic

• Early ambulatory stage (EAS)

Stages of DMD

• Presymptomatic

• Early ambulatory stage (EAS)• Late ambulatory stage (LAS)

Stages of DMD

• Presymptomatic

• Early ambulatory stage (EAS)• Late ambulatory stage (LAS)• Early non-ambulatory stage (ENAS)

Stages of DMD

• Presymptomatic

• Early ambulatory stage (EAS)• Late ambulatory stage (LAS)• Early non-ambulatory stage (ENAS)

• Late non-ambulatory stage (LNAS)

Research in the past (in Radboudumc)

Oral muscles in DMD (using quantitative ultrasound - QMUS)• Increased echogenicity

• Enlargement of muscles

S. Pillen, I. Arts, and M. Zwarts, 2008, Muscle Ultrasound in Neuromuscular Disorders, Muscle & Nerve, 37, p. 680.

Longitudinal measurements

M .L.J. Lagarde, S. Knuijt, J.T. Groothuis, I.J.M. de Groot, L. van den Engel- Hoek. Longitudinal changes in oral and masticatory muscles in Duchenne Muscular Dystrophy: a disturbed balance. Poster ESSD

T1 (EAS) and T2 (EAS) T1 (EAS) and T2 (LAS)

T1 (ENAS) and T2 (ENAS) T1 (LNAS) and T2 (LNAS)

QMUS of the flour of the mouth

Healthy DMD

Digastricmuscles

Geniohyoidmuscles

QMUS of masseter muscle

DMD

?

Healthy

QMUS of temporal muscle

Healthy DMD

QMUS of the tongue

Healthy DMD

Superior longitudinalmuscle

Transversemuscle

?

?

QMUS of tongue thickness

Resume

In DMD:

• Tongue is affected (echogenicity and thickness).• Problems with mouth opening, chewing, swallowing, speech.• Relations between QMUS, chewing problems and dysphagia.

• What about the relationship between QMUS and speech?

Hypothesis

• The dysarthria is expected to be more severe when the QMUS of the

tongue muscles are more affected.• There is a correlation between the acoustic characteristics and the QMUS

of the tongue muscles.

• Dysarthria severity increases when the respiratory function decreases.

Measurements

• Radboud Dysarthria Assessment (Knuijt et al., 2014)

• Dysarthria severity (0-5)• Maximum phonation volume• Maximum phonation time

• Fundamental frequency range• Maximum repetition rate

• Articulation rate during reading

• Sentence intelligibility (NSVO-Z, Martens et al., 2010)• Quantitative muscle ultrasound (QMUS)• Mouth opening

• Respiratory function• Forced vital capacity (FVC)• Peak cough flow (PCF)

Methods

• N=16 (mean age 24 y, range 19-32)

• 13 x LNAS, 3x intermediate type

• Descriptive statistics

• Correlations• Principal component analysis (PCA) to generate a:

• QMUS component (tongue thickness, echogenicity of superior

longitudinal muscle and transverse muscle)• Acoustic component (articulation rate, /ta/ and /ka/)

Results – descriptives

• Dysarthria severity score 2 (mild dysarthria)

• Reduced maximum phonation volume (92 dB, norm is 100 dB*)

• Reduced maximum phonation time (7 sec, norm is 22 sec*)

• Reduced fundamental frequency range (24 semitones, norm 31*)

• Reduced speech intelligibility (80%, norm is 98%)

*Normative values derived from: Knuijt et al, Reference values of maximum performance tests of speech production. 2019 Int J Speech Lang Pathol. 21:1

Results – descriptives

N M(SD) RangeEchogenicity superior longitudinal muscle(z-scores)

14 3.15 (2.02) -.08 – 6.28

Echogenicity transverse muscle(z-scores)

13 2.30 (1.84) .30 – 5.29

Thickness of the tongue(z-scores)

14 8.19 (3.02) 3.31 – 13.13

Results – significant correlations

• Maximum phonation time with FVC: p = .001

• Maximum phonation volume with PCF: p = .026

• Dysarthria severity with:• QMUS: p = .031• FVC: p = .001

• PCF: p = .007

NB No significant correlations with intelligibility

Results – components

• Speech acoustics with QMUS: significant (p = .001)

Conclusion

• Mild dysarthria, characterized by reduced MPT, MPV, (FFR) and

intelligibility.Respiratory function

• But: QMUS correlated with acoustic component and dysarthria severity.Reduced articulatory distances?

• Additional analyses:• Coefficient of variance in DDK

Current research

Philips Affinity 70

Current research

Current research

“Ultrasound is a tool that is limited only by a

researcher's creativity” (Stone 1995)