By Cheryl L. Giddens, PhD
Department of Communication Sciences and Disorders, Oklahoma State University
Oklahoma City, Oklahoma USA
By Lorraine Ramig, PhD
National Center for Voice and Speech
Denver, CO USA
Special to The Movement Disorder Society
Quality of life is greatly dependent upon the ability to communicate and otherwise share with others. Likewise, the ability to feed safely and share meals with others impacts the physical and social well-being of an individual. Disordered speech (dysarthria) and swallow (dysphagia) are commonly observed in many forms of chorea and have been associated with hypotonia, involuntary movements, motor impersistence, and, in some cases, areflexia and muscle weakness.1-3 These manifestations may be the presenting signs of chorea-acanthocytosis,4 pantothenate kinase-associated neurodegeneration,5 and juvenile Huntington's disease (HD),6,7 conditions in which dystonia and rigidity often manifest early.8 Alternatively, dysarthria and dysphagia may present later in a disease course as chorea abates and dystonia and rigidity increase, and as may be observed in many cases of McLeod Syndrome9 and adult onset HD. In contrast, dysarthria and dysphagia rarely present in the condition of benign hereditary chorea.10,11
By virtue of their occurrence in the most common genetic chorea, dysarthria and dysphagia in adult-onset HD have received the most investigator attention. Kirkwood, Su, Conneally, and Foroud, 2001,12 surveyed 1238 individuals with HD. Although prevalence of dysarthria in HD has been reported as high as 90%,13 24% of individuals displaying symptoms for less than 5 years reported dysarthria, as contrasted with 64% of those with a greater than 10 year history of symptoms. In addition weight loss, a predictor of disease progression14 was reported by 49% of individuals with a 6-10 year history of symptoms. Dysphagia and aspiration may be universal in the latter stages of HD and are often reported as the most common cause of death.15
Chorea and Speech - Evaluation
The production of intelligible speech is a precisely orchestrated phenomenon. An uninterrupted exhalation is required to maintain vocal fold vibration, which is shaped by the tongue, lips, mandible and hard and soft palates into the meaningful sounds associated with our languages. Disordered movements, weakness, or motor impersistence in any one of the speech subsystems can result in dysarthria.
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Respiration may be perceptually deviant in chorea. Inhalation and exhalation have been characterized as "sudden, forced".16 These perceptions may be consistent with the findings of Fischer, Oepen, and Matthys, 198317 of sudden, unexpected zero flow or unexpected high flow in the breathing patterns of individuals with HD. In addition, sleep apnea can be common in the neurologically impaired,18 and the co-occurrence of central and obstructive sleep apnea, and resultant treatment with continuous positive airway pressure (CPAP), has been reported in a subgroup of individuals with McLeod syndrome.2
The HD voice has been described as interrupted by arrest;19,20 and an inability to maintain a consistent fundamental frequency.19-22 Further, increased mean jitter22 and shimmer19 and reduced harmonic to noise ratio21 have been reported. Overall quality has been described as strained or harsh23 and an inability to adequately sustain phonation has been identified.20,23,24 Involuntary vocal fold opening and closing has been observed through laryngoscopy19 and involuntary laryngeal grunts and clicks have been reported in many of the choreas including chorea-acanthocytosis and McLeod syndrome.2,25 Sub-perceptual vocal aberrancies have been reported in individuals identified at risk for HD21 and may possibly be indicators of microchorea.
Oral Motor Function, Articulation and Resonation
Chorea often results in an inability to sustain steady head, tongue, jaw, and facial postures necessary for precisely articulated speech, and the resulting dysarthria is primarily of the hyperkinetic subtype.26 Speech has been described as slurred, slow, and halting.27 Involuntary tongue and velar movements and mouth opening during speech result in speech interruption and the perception of intermittent hypernasality.16 Increased utterance length variability and reduced speaking rate are reported in some individuals with chorea 23,28-31 and may correlate well with degree of overall impairment.32 Verbal diadochokinetic rates, similarly, have been reported reduced as compared to controls in HD23,29 and in asymptomatic, but at risk for HD, individuals.33
Chorea and Swallow - Evaluation
Oral Preparatory Phase and Oral Phase
The results of fluoroscopic swallow studies reveal that the oral preparatory phase is commonly disordered in HD-associated chorea. Upper body hyperextension is common and interferes with feeding. Tachyphagia results in premature disposition of inadequately masticated solid and liquid boluses.34 Nasal regurgitation and food spillage from the mouth can occur with involuntary opening of the velopharyngeal port and the mouth. Reduced range of motion and incoordination of the tongue and the lips and associated difficulty moving a bolus from the front to the back of the tongue for swallow trigger are reported 35,36 as are involuntary jaw and tongue movements that can further result in mastication inadequacy.36
Feeding dystonia may be a unique feature of chorea-acanthocytosis. Food, when placed within the mouth, appears to trigger involuntary jaw opening and tongue protrusion.4,25 This behavior contributes to mutilation of the tongue and places the patient at risk for cachexia.
Pharyngeal Phase and Esophageal Phase
Choreiform movements of the vocal folds and the epiglottis can result in penetration or aspiration of a bolus36 and associated coughing and choking are common in chorea. Failure of the respiratory muscles to maintain the breath hold necessary to prevent a bolus from entering the airway and involuntary forced inhalations during swallow place the person with chorea at further risk for penetration and aspiration.37 Stasis in the pyriform and valleculae has been commonly observed.37 Albeit benign, troubling belching may occur due to involuntary swallowing of air.26
Esophageal abnormalities in HD are also reported.36 Gastric reflux may correlate with disease severity and is hypothesized to be associated with malnutrition and/or medication.38
Treatment of Dysarthria and Dysphagia in Chorea
Therapy for dysarthria and dysphagia for chorea has been, historically, symptomatic and compensatory in nature.35, 36, 39-42
Although rehabilitation attempts in chorea are rarely cited in the literature43 and rehabilitation involving the speech-language pathologist has been primarily limited to respiratory re-training;44 there is new, although limited, evidence that rehabilitation in the progressive chorea of HD may be efficacious. The first author employed respiratory retraining exercise, vocal fold adduction exercise, and oral motor exercise as adjunctive therapy to pharmacological treatment in a 2-year HD clinic with positive clinical outcomes. A follow-up pilot study of the same exercises in 5 individuals with mild HD-associated dysarthria and dysphagia revealed that cranial nerve exam scores were significantly improved following 30 days of exercise practice. Participants reported their perception of improved breathing and vocal control and improved swallow.24 Research is ongoing to discern the ability to maintain gains longitudinally and to objectively evaluate the effects of rehabilitation on swallow function.
Strategies exist for improving speech intelligibility even in the face of severe chorea. Caregivers should remind the affected individual to reduce his or her speaking rate when speech intelligibility is severely compromised. Interaction should be carried out face-to-face with good maintenance of eye contact to maximize speech intelligibility. Background noise should be reduced, if not eliminated, during conversation.26
Head positioning, chin tuck, consistency modifications, and postural controls are often efficacious for management of chorea-associated dysphagia.36 In addition, early intervention may help to prevent maladaptive feeding behaviors.25 Reduced distractions will aid in implementation of postural modifications and attention to bolus control. Moskowitz & Marder40 suggest the use of weighted forks, spoons and weighted cups with small sip holes. In addition, they suggest double swallows, small bites, and thickened liquids presented at 5-6 small daily meals.
HD-associated dysphagia, unfortunately, often coincides with xerostomia and increased thirst45 as well as the need for increased caloric intake46, 47 that may be associated with altered metabolism.48 The resulting cachexia, in turn, exacerbates the movement disorder;49 therefore, dietary supplements50 and referral to a clinical dietician may be appropriate.40
Percutaneous endoscopic gastronomy (PEG) may be necessary to supplement oral feeding in order to maintain adequate nutrition and weight in the latter stages of progressive chorea, taking into account personal and ethical considerations. Care should be taken, however, that oral feeding, at least recreational when safe, not be eliminated due to the ease of PEG feeding. Exclusive use of PEG for feeding, if swallow, even with modifications and compensations, is deemed unsafe, however, may reduce the risk of mortality secondary to respiratory compromise long term.51
The abilities to communicate and swallow are essential to quality of life. Assessment and treatment of dysarthria (disordered speech) and dysphagia (disordered swallow) are important elements in the management of chorea. A speech language pathologist should be a member of the management team in order to optimize quality of life in individuals with chorea.
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About Cheryl Giddens, PhD
Dr. Cheryl L. Giddens, PhD, is an associate professor in the Department of Communication Sciences and Disorders, Oklahoma State University. She received her MS degree (1993) in speech-language pathology and her PhD (2000) with emphasis in neuroscience from the University of Oklahoma Health Sciences Center. Dr. Giddens participates in clinical trials in Huntington's disease, normal and disordered voice, and sleep apnea and gastroesophageal reflux.
Dr. Giddens may be reached at the Department of Communication Sciences and Disorders, Oklahoma State University, 042 Murray Hall, Stillwater, OK 74078. E-mail: email@example.com
About Lorraine Ramig, PhD
Dr. Lorraine Ramig, PhD, is a Professor in the Department of Speech, Language and Hearing Science, University of Colorado-Boulder, a Senior Scientist at the National Center for Voice and Speech-Denver and an Adjunct Professor at Columbia University, Teacher's College, Department of Biobehavior. She received her MS degree from the University of Wisconsin-Madison and her PhD from Purdue University. Dr. Ramig studies voice in the aged and individuals with neurological disorders, with a focus on Parkinson's disease and treatment efficacy (LSVT). Her research has been funded by the NIH-NIDCD for 20 years.
Dr. Ramig may be reached by e-mail at firstname.lastname@example.org