Dysarthria and quality of life in neurologically healthy elderly and patients with Parkinson's disease

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Articulatory imprecision in dysarthria following childhood cerebellar tumor: A perceptual and acoustic investigation of three male participants

Articulatory imprecision has been documented as a key perceptual feature of the dysarthria associated with childhood cerebellar tumor (CCT). As yet the underlying acoustic and physiological characteristics of motor speech production that contribute to this perceptual feature have not been identified. The aim of the current study was to describe perceptual and acoustic characteristics of consonant production in three children with dysarthria associated with CCT The results indicated that in all three cases the timing of articulatory movements during stop consonant production differed from that measured in a control group of same-age peers. The impact of cerebellar lesions in adulthood on articulatory gestures is used as a reference for discussing the findings of the current study with similarities evident. Also discussed are future research directions for examining the underlying acoustic or physiological basis for articulatory imprecision in children with dysarthria associated with CCT.

Articulatory function in hypokinetic dysarthria: An electropalatographic examination of two cases

The present study employed electropalatography (EPG) and a nonspeech measure of lingual function to examine, in detail, the articulatory production deficits of two individuals with Parkinson disease (PD) and hypokinetic dysarthria. Participants read 10 repetitions of CV words contained within the carrier phrase I saw a _ today while wearing an EPG artificial palate. Target consonants included the alveolar stop /t/, lateral approximant /l/, and the alveolar fricative /s/ in the /a/ vowel environment. The results of the two participants were compared to an age-matched control group. Examination of the perceptual features of articulatory production, lingual strength, fine force control and endurance, tongue-palate contact patterns, and segment durations were conducted. Results of the study revealed quite different articulatory deficits in the two participants. Specifically, the articulation of Participant One (P1) was characterized by a fast rate of speech, undershooting of articulatory targets, and reduced duration of consonant closures. In contrast, Participant Two (P2) demonstrated tongue-palate contact patterns indicative of impaired lingual control in the presence of both normal and increased articulatory segment durations. Potential reasons for the differing articulatory deficits were hypothesized. The current study demonstrated that assessment with EPG identified potential causes of consonant imprecision in two individuals with hypokinetic dysarthria. Directions for speech pathology intervention, salient from the results of the study, were also noted.

Analysis of articulatory dynamics in dysarthria following brain injury in childhood using electromagnetic articulography and electropalatography

Two physiological assessments, electromagnetic articulography (EMA) and electropalatography (EPG), were used simultaneously to investigate the articulatory dynamics in an 18-year-old male with dysarthria 9 years following traumatic brain injury (TBI). Eight words consisting of /t, s, integral, k/ in word initial and word final positions were produced up to 10 times. A nonneurologically impaired male served as a control subject. Six parameters were analyzed using EMA: velocity, acceleration, deceleration, distance, duration, and motion path of tongue movements. Using EPG, the pattern and amount of tongue-to-palate contact and the duration of the closure/constriction phase of each consonant produced were assessed. Timing disturbances in the TBI speaker's speech were highlighted in perceptual assessments in the form of prolonged phonemes and a reduced speech rate. EMA analysis revealed that the approach and release phase durations of the consonant productions were within normal limits. Kinematic strategies such as decreased velocity and decreased distances traveled by the tongue, however, may have counterbalanced each other to produce these appropriate results. EPG examination revealed significantly longer closure/constriction phase periods, which may have contributed to the prolonged phonemes and reduced speech rate observed. The implications of these findings for the development of treatment programs for dysarthria subsequent to TBI will be highlighted.

Treating dysarthria following traumatic brain injury: Investigating the benefits of commencing treatment during post-traumatic amnesia in two participants

Primary objective: The aims of this preliminary study were to explore the suitability for and benefits of commencing dysarthria treatment for people with traumatic brain injury (TBI) while in post-traumatic amnesia ( PTA). It was hypothesized that behaviours in PTA don't preclude participation and dysarthria characteristics would improve post-treatment. Research design: A series of comprehensive case analyses. Methods and procedures: Two participants with severe TBI received dysarthria treatment focused on motor speech deficits until emergence from PTA. A checklist of neurobehavioural sequelae of TBI was rated during therapy and perceptual and motor speech assessments were administered before and after therapy. Main outcomes and results: Results revealed that certain behaviours affected the quality of therapy but didn't preclude the provision of therapy. Treatment resulted in physiological improvements in some speech sub-systems for both participants, with varying functional speech outcomes. Conclusions: These findings suggest that dysarthria treatment can begin and provide short-term benefits to speech production during the late stages of PTA post-TBI.

Molecular characterization of mitochondrial ataxias : with emphasis on MIRAS and IOSCA

Uusi hermoston rappeumasairaus MIRAS: Suomessa kantajia joka 125. väestöstä Tässä väitöskirjatyössä on kuvattu uusi peittyvästi periytyvä hermoston rappeumasairaus, MIRAS (mitochondrial recessive ataxia syndrome), ja sen geenitausta. Tauti osoittautui tutkimuksessamme Suomen yleisimmäksi perinnölliseksi ataksiasairaudeksi. Tutkimuksessa on tutkittu perinnöllisiä aivosairauksia, joissa yhtenä oireena on ataksia (kävelyn epävarmuus, tasapainovaikeus ja liikkeiden haparointi), sekä lukuisia muita aivojen toimintahäiriöstä johtuvia oireita. Seuloessamme suomalaisilta ataksiapotilailta MIRAS-geenivirhettä, 27 potilasta sai diagnoosin aikaisemmin tuntemattomalle, etenevälle ataksiasairaudelleen. Tutkimuksen tuloksena kyseisen geenivirheen DNA-diagnostiikka on otettu käyttöön suomalaisissa ja eurooppalaisissa laboratorioissa, ja toista sataa potilasta ympäri maailman on saanut diagnoosin. Suomen väestössä joka 125. kantaa MIRAS geenivirhettä, mutta taudin saa vain, jos perii geenivirheen molemmilta vanhemmiltaan. MIRAS on taudinkuvaltaan vaihteleva, mutta vaikea etenevä neurologinen sairaus. Useilla potilailla esiintyvät oireet ovat ataksia, puheen puuromaisuus (dysartria), ääreishermorappeuma (neuropatia), pakkoliikkeet, psykiatriset oireet sekä vaikea epilepsia. Erityisen tärkeää MIRAS-taudin tunnistaminen on siihen liittyvän epilepsian hoitopäätöksessä: valproaatti-lääkitys voi aiheuttaa MIRAS-potilaille vaikean maksavaurion. Väitöskirjatyön tuloksena selvisi, että kaikki suomalaiset, norjalaiset, belgialaiset, englantilaiset, australialaiset ja uusi-seelantilaiset MIRAS potilaat olivat kaukaista sukua samalle, tuhansia vuosia sitten eläneelle eurooppalaiselle esivanhemmalle. Ataksiasairauksien tautimekanismeja selvitimme tutkimalla MIRAS-ataksiaa ja sitä muistuttavaa IOSCA sairautta (infantile onset spinocerebellar ataxia), jonka aiheuttaa peittyvästi periytyvä geenivirhe Twinkle-geenissä. Tutkimuksessa löydettiin myös uusi, Twinkle-geenin geenivirheestä johtuva taudinkuva: vaikea-asteinen, varhaisella iällä alkava aivosairaus, jossa on lisäksi viitteitä maksasairaudesta. Löysimme potilaiden aivoista muutoksia mitokondrioiden eli solun voimalaitosten perimän määrässä. Nämä tulokset antavat arvokasta lisätietoa ataksiasairauksien taustalla olevista muutoksista, joiden ymmärtäminen on välttämätön edellytys hoitomahdollisuuksien tutkimiselle tulevaisuudessa.

Partial Rhombencephalosynapsis.

Clinical history - A 4-year-old boy, born prematurely at 29 weeks (twin pregnancy), with periventricular leukomalacia and epilepsy underwent brain MRI. Neurological examination showed severe developmental retardation with axial hypotonia, spastic tetraparesis and convergent strabismus. Imaging findings - Cranial MRI revealed typical aspects of partial rhombencephalosynapsis with vermian hypoplasia, midline fusion of the cerebellar hemispheres and transversely oriented folia and fissures. There was also mild dilatation and dysmorphism of the ventricular system, the septum pellucidum was absent, the hippocampi were malrotated and had vertical orientation and additional finding of associated periventricular cystic leukomalacia. Discussion - Rhombencephalosynapsis (RS) is a rare congenital defect of the cerebellum classically characterised by vermian agenesis or hypogenesis, fusion of the hemispheres, and closely apposed or fused dentate nuclei. It is now considered to result from an absence of division of the cerebellar hemispheres, following an insult between the 28th and 44th day of gestation (i.e., before the formation of the vermis). Other features have also been described such as fusion of the thalami and cerebral peduncles, malrotated hippocampi, corpus callosum agenesis, hypoplastic chiasm, absence of the septum pellucidum, ventriculomegaly, agenesis of the posterior lobe of the pituitary and cortical malformations. Musculoskeletal, cardiovascular, urinary tract, and respiratory abnormalities have been reported. Typical symptoms consist of swallowing difficulties, delayed motor acquisitions, muscular hypotonia, spastic quadriparesis, cerebellar signs including dysarthria, gait ataxia, abnormal eye movements, and seizures and hydrocephalus. The major MRI signs consist of fused cerebellar hemispheres, with absent or hypoplastic vermis, narrow diamond-shaped fourth ventricle and fused dentate nuclei. In a minority of cases, partial RS has been identified by MRI, demonstrating the presence of the nodulus and the anterior vermis and absence of part of the posterior vermis with only partial fusion of the hemispheres in the inferior part. Other cerebellar malformations involving vermian agenesis or hypoplasia include the Dandy–Walker continuum, Joubert syndrome, tectocerebellar dysraphy or pontocerebellar hypoplasias, and are now easily distinguished from RS by both brain MRI and morphology.

An episode mimicking a versive seizure in acute bilateral pontine stroke.

Pontine ischemia usually results in focal deficits such as hemiparesis, facial palsy, dysarthria, disorders of eye movements or vertigo. Although rarely described, involuntary abnormal movements and "convulsions" due to pontine lesions can also occur. Here we describe a 67-year-old woman with hypertension who presented with a tonic movement mimicking a versive seizure in the acute phase of bilateral pontine ischemia. Post-stroke movement disorders are well known. They are usually associated with supratentorial lesions and rarely occur in the acute phase, but "seizure-like" episodes can be seen in pontine ischemia. Awareness of this rare phenomenon is useful for the management of acute stroke patients.

Strokes restricted to the insular cortex

Résumé: L'objectif de l'étude est de caractériser la manifestation clinique d'une atteinte vasculaire cérébrale ischémique aiguë limitée au cortex insulaire, région intrigante et méconnue du cerveau humain. Dans la pratique clinique, une atteinte vasculaire aiguë limitée à l'insula, sans compromission d'autres régions cérébrales, est exceptionnelle et sa manifestation clinique neurologique est souvent non reconnue. L'étude est focalisée sur quatre patients, inscrits dans le Lausanne Stroke Registry, présentant une nouvelle atteinte vasculaire cérébrale avec une lésion unique purement limitée au cortex insulaire, objectivée à l'aide de la résonance magnétique (IRM). L'étude a mis en évidence cinq manifestations cliniques principales : 1) Troubles de la sensibilité corporelle sont révélé chez trois patients avec une atteinte insulaire postérieure (deux avec un syndrome pseudothalamique, un avec un déficit à distribution partielle). 2) Un patient avec une lésion insulaire postérieure gauche présent des troubles du goût. 3) Un syndrome pseudovestibulaire avec vertiges non rotatoires, instabilité à la marche sans nystagmus, est mis en évidence chez trois patients avec une atteinte ischémique insulaire postérieure. 4) Un patient avec atteinte de l'insula postérieure droite présente des épisodes d'hypertension artérielle d'origine cryptique. 5) Des troubles neuropsychologiques tels qu'aphasie et dysarthrie sont détectés chez les patients avec une atteinte insulaire postérieure gauche, un épisode de somatoparaphrénie est rapporté avec une atteinte insulaire postérieure droite. En conclusion, les atteintes vasculaires cérébrales ischémiques aiguës limitées au cortex insulaire postérieur peuvent se manifester principalement avec un tableau clinique caractérisé par un syndrome pseudothalamique associé à une symptomatologie pseudovertigineuse. Les lésions insulaires postérieures peuvent se manifester avec une dysarthrie et des troubles du goût, une aphasie (gauche), une somatoparaphrénie et une dysfonction hypertensive (droite). L'étude n'a pas mis en évidence de dysphagie, reportée dans les atteintes insulaires antérieures. Abstract: Objective: To characterize clinically acute insular strokes from four patients with, a first ever acute stroke restricted to the insula on MRI. Methods: The authors studied the clinical presentation of four patients with a first ever acute stroke restricted to the insula on MRI. Results: The authors found five main groups of clinical presentations: 1) somatosensory deficits in three patients with posterior insular stroke (two with a transient pseudothalamic sensory syndrome, one with partial distribution); 2) gustatory disorder in a patient with left posterior insular infarct; 3) vestibular-like syndrome, with dizziness, gait instability, and tendency to fall, but no nystagmus, in three patients with posterior insular strokes; 4) cardiovascular disturbances, consisting of hypertensive episodes in a patient with a right posterior insular infarct; and 5) neuropsychological disorders, including aphasia (left posterior insula), dysarthria, and transient somatoparaphrenia (right posterior insula). Conclusion: Strokes restricted to the posterior insula may present with pseudothalamic sensory and vestibular-like syndromes as prominent clinical manifestations, but also dysarthria and aphasia (in left lesions), somatoparaphrenia (right lesions) and gustatory dysfunction and blood pressure with hypertensive episodes in right lesions; we did not find acute dysphagia reported in anterior, insular strokes.