Browsing by Subject "Dysarthria"
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Item Open Access Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.(Molecular genetics and metabolism, 2012-11) Horvath, Jeffrey J; Austin, Stephanie L; Jones, Harrison N; Drake, Elizabeth J; Case, Laura E; Soher, Brian J; Bashir, Mustafa R; Kishnani, Priya SGlycogen storage disorder type III (GSD III) is a rare autosomal recessive disorder resulting from a deficiency of glycogen debranching enzyme, critical in cytosolic glycogen degradation. GSD IIIa, the most common form of GSD III, primarily affects the liver, cardiac muscle, and skeletal muscle. Although skeletal muscle weakness occurs commonly in GSD IIIa, bulbar muscle involvement has not been previously reported. Here we present three GSD IIIa patients with clinical evidence of bulbar weakness based on instrumental assessment of lingual strength. Dysarthria and/or dysphagia, generally mild in severity, were evident in all three individuals. One patient also underwent correlative magnetic resonance imaging (MRI) which was remarkable for fatty infiltration at the base of the intrinsic tongue musculature, as well as abnormal expansion of the fibro-fatty lingual septum. Additionally, we provide supportive evidence of diffuse glycogen infiltration of the tongue at necropsy in a naturally occurring canine model of GSD IIIa. While further investigation in a larger group of patients with GSD III is needed to determine the incidence of bulbar muscle involvement in this condition and whether it occurs in GSD IIIb, clinical surveillance of lingual strength is recommended.Item Open Access Intensive treatment of dysarthria in two adults with Down syndrome.(Developmental neurorehabilitation, 2012-01) Mahler, Leslie A; Jones, Harrison NObjective
This study investigated the impact of an established behavioural dysarthria treatment on acoustic and perceptual measures of speech in two adults with Down syndrome (DS) and dysarthria to obtain preliminary measures of treatment effect, effect size and treatment feasibility.Methods
A single-subject A-B-A experimental design was used to measure the effects of the Lee Silverman Voice treatment (LSVT®) on speech in two adults with DS and dysarthria. Dependent measures included vocal sound pressure level (dB SPL), phonatory stability and listener intelligibility scores.Results
Statistically significant improvements (p < 0.05) in vocal dB SPL and phonatory stability were present following treatment in both participants. Speech intelligibility scores improved in one of the two participants.Conclusions
These data suggest that people with DS and dysarthria can respond positively to intensive speech treatment such as LSVT. Further investigations are needed to develop speech treatments specific to DS.Item Open Access Quantitative assessment of lingual strength in late-onset Pompe disease.(Muscle & nerve, 2015-05) Jones, Harrison N; Crisp, Kelly D; Asrani, Priyanka; Sloane, Richard; Kishnani, Priya SIntroduction
Skeletal muscle is common in late-onset Pompe disease (LOPD). Recent data implicate common bulbar muscle involvement (i.e., the tongue).Methods
We used quantitative assessment of lingual strength to retrospectively determine the frequency and severity of lingual weakness in LOPD. We additionally examined associations between lingual strength and the presence or absence of dysarthria, and dysarthria severity.Results
Quantitative assessment revealed lingual weakness to be present in 80% of the sample. In the 24 affected patients, severity was mild in 29%, moderate in 29%, and severe in 42%. Patients with clinical dysarthria had greater lingual weakness than those without. As dysarthria severity increased, lingual strength decreased by an average of 6.82 kPa.Conclusions
These quantitative data provide additional evidence for presence of bulbar muscle disease in patients with LOPD. Further study is necessary to determine functional effects, temporal progression, and effects of treatment.Item Open Access Speech motor program maintenance, but not switching, is enhanced by left-hemispheric deep brain stimulation in Parkinson's disease.(International journal of speech-language pathology, 2010-10) Jones, Harrison N; Kendall, Diane L; Okun, Michael S; Wu, Samuel S; Velozo, Craig; Fernandez, Hubert H; Spencer, Kristie A; Rosenbek, John CSpeech reaction time (SRT) was measured in a response priming protocol in 12 participants with Parkinson's disease (PD) and hypokinetic dysarthria "on" and "off" left-hemispheric deep brain stimulation (DBS). Speech preparation was measured during speech motor programming in two randomly ordered speech conditions: speech maintenance and switching. Double blind testing was completed in participants with DBS of globus pallidus pars interna (GPi) (n = 5) or subthalamic nucleus (STN) (n = 7). SRT was significantly faster in the maintenance vs switch task, regardless of DBS state. SRT was faster in the speech maintenance task "on" stimulation, while there was no difference in speech switching "on" and "off" DBS. These data suggest that left-hemispheric DBS may have differential effects on aspects of speech preparation in PD. It is hypothesized that speech maintenance improvements may result from DBS-induced cortical enhancements, while the lack of difference in switching may be related to inhibition deficits mediated by the right-hemisphere. Alternatively, DBS may have little influence on the higher level motor processes (i.e., motor planning) which it is believed the switch task engaged to a greater extent than the maintenance task.