Stroke as the First Clinical Manifestation of Takayasu's Arteritis

Takayasu's arteritis is a chronic inflammatory disease, and neurological symptoms occur in 50% of cases, most commonly including headache, dizziness, visual disturbances, convulsive crisis, transient ischemic attack, stroke and posterior reversible encephalopathy syndrome. The aim of this study was to report the case of a young Brazilian female with a focal neurological deficit. She presented with asymmetry of brachial and radial pulses, aphasia, dysarthria and right hemiplegia. Stroke was investigated extensively in this young patient. Only nonspecific inflammatory markers such as velocity of hemosedimentation and C-reactive protein were elevated. During hospitalization, clinical treatment was performed with pulse therapy showing improvement in neurological recuperation on subsequent days. In the chronic phase, the patient was submitted to medicated angioplasty of the brachiocephalic trunk with paclitaxel, with significant improvement of the stenosis. At the 6-month follow-up, the neurological exam presented mild dysarthria, faciobrachial predominant disproportionate hemiparesis, an NIHSS score of 4 and a modified Rankin Scale score of 3 (moderate incapacity). In conclusion, Takayasu's arteritis must be recognized as a potential cause of ischemic stroke in young females.

Using the National Institute of Health Stroke Scale to Predict Dysphagia in Acute Ischemic Stroke

Background and Purpose: Oropharyngeal dysphagia is a common manifestation in acute stroke. Aspiration resulting from difficulties in swallowing is a symptom that should be considered due to the frequent occurrence of aspiration pneumonia that could influence the patient's recovery as it causes clinical complications and could even lead to the patient's death. The early clinical evaluation of swallowing disorders can help define approaches and avoid oral feeding, which may be detrimental to the patient. This study aimed to create an algorithm to identify patients at risk of developing dysphagia following acute ischemic stroke in order to be able to decide on the safest way of feeding and minimize the complications of stroke using the National Institutes of Health Stroke Scale (NHISS). Methods: Clinical assessment of swallowing was performed in 50 patients admitted to the emergency unit of the University Hospital, Faculty of Medicine of Ribeirao Preto, Sao Paulo, Brazil, with a diagnosis of ischemic stroke, within 48 h after the beginning of symptoms. Patients, 25 females and 25 males with a mean age of 64.90 years (range 26-91 years), were evaluated consecutively. An anamnesis was taken before the patient's participation in the study in order to exclude a prior history of deglutition difficulties. For the functional assessment of swallowing, three food consistencies were used, i.e. pasty, liquid and solid. After clinical evaluation, we concluded whether there was dysphagia. For statistical analysis we used the Fisher exact test, verifying the association between the variables. To assess whether the NIHSS score characterizes a risk factor for dysphagia, a receiver operational characteristics curve was constructed to obtain characteristics for sensitivity and specificity. Results: Dysphagia was present in 32% of the patients. The clinical evaluation is a reliable method of detection of swallowing difficulties. However, the predictors of risk for the swallowing function must be balanced, and the level of consciousness and the presence of preexisting comorbidities should be considered. Gender, age and cerebral hemisphere involved were not significantly associated with the presence of dysphagia. NIHSS, Glasgow Coma Scale, and speech and language changes had a statistically significant predictive value for the presence of dysphagia. Conclusions: The NIHSS is highly sensitive (88%) and specific (85%) in detecting dysphagia; a score of 12 may be considered as the cutoff value. The creation of an algorithm to detect dysphagia in acute ischemic stroke appears to be useful in selecting the optimal feeding route while awaiting a specialized evaluation. Copyright (C) 2012 S. Karger AG, Basel

Niemann-Pick disease type C symptomatology: an expert-based clinical description

Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early disease detection should rely on seeking a combination of signs and symptoms, rather than isolated findings. Examples of combinations which are strongly suggestive of NP-C include: splenomegaly and vertical supranuclear gaze palsy (VSGP); splenomegaly and clumsiness; splenomegaly and schizophrenia-like psychosis; psychotic symptoms and cognitive decline; and ataxia with dystonia, dysarthria/dysphagia and cognitive decline. VSGP is a hallmark of NP-C and becomes highly specific of the disease when it occurs in combination with other manifestations (e.g. splenomegaly, ataxia). In young infants (<2 years), abnormal saccades may first manifest as slowing and shortening of upward saccades, long before gaze palsy onset. While visceral manifestations tend to predominate during the perinatal and infantile period (2 months–6 years of age), neurological and psychiatric involvement is more prominent during the juvenile/adult period (>6 years of age). Psychosis in NP-C is atypical and variably responsive to treatment. Progressive cognitive decline, which always occurs in patients with NP-C, manifests as memory and executive impairment in juvenile/adult patients. Disease prognosis mainly correlates with the age at onset of the neurological signs, with early-onset forms progressing faster. Therefore, a detailed and descriptive picture of NP-C signs and symptoms may help improve disease detection and early diagnosis, so that therapy with miglustat (Zavesca®), the only available treatment approved to date, can be started as soon as neurological symptoms appear, in order to slow disease progression.

Basilar artery occlusion

The clinical presentation of basilar artery occlusion (BAO) ranges from mild transient symptoms to devastating strokes with high fatality and morbidity. Often, non-specific prodromal symptoms such as vertigo or headaches are indicative of BAO, and are followed by the hallmarks of BAO, including decreased consciousness, quadriparesis, pupillary and oculomotor abnormalities, dysarthria, and dysphagia. When clinical findings suggest an acute brainstem disorder, BAO has to be confirmed or ruled out as a matter of urgency. If BAO is recognised early and confirmed with multimodal CT or MRI, intravenous thrombolysis or endovascular treatment can be undertaken. The goal of thrombolysis is to restore blood flow in the occluded artery and salvage brain tissue; however, the best treatment approach to improve clinical outcome still needs to be ascertained.

[Vasculitis as a reason of chronic headache]

A 13-year-old girl presented to our emergency with a one week history of fever and skin rash and new onset of chorea for the last three days. There was a long standing history of right predominant headache; followed by personality change, fatigue, arthralgia and weight loss over the last few months. Previous investigations by head CT and ophthalmological examination did not explain the symptoms. Further investigations revealed peri- and pancarditis with aortic insufficiency, a renal involvement with elevated creatinin, protein- and hematuria and a hemolytic anemia. Diagnosis of lupus eythematodes was confirmed by high ANA, anti-dsDNS and Anticardiolipin antibodies. Within the first 48 hours after admission there was significant deterioration with reduced vigilance and dysarthria. MRI of the brain and dopplersonography of cerebral vessels showed a complete thrombosis of the right medial cerebral artery with a small net of collaterals, irregularities of the left cerebral artery due to vasculitis and several subacute leftsided ischemias. Immunosuppressive therapy with high-dose corticosteroids and cyclophosphamid together with antithrombotic therapy induced an improvement of neurologic, renal and cardiac function.

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

BackgroundNiemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time course of symptoms, and the clinical diagnostic work-up in the Swiss NP-C cohort.MethodsClinical, biochemical and genetic data were assessed for 14 patients derived from 9 families diagnosed with NP-C between 1994 and 2013. We retrospectively evaluated diagnostic delays and period prevalence rates for neurological, psychiatric and visceral symptoms associated with NP-C disease. The NP-C suspicion index was calculated for the time of neurological disease onset and the time of diagnosis.ResultsThe shortest median diagnostic delay was noted for vertical supranuclear gaze palsy (2y). Ataxia, dysarthria, dysphagia, spasticity, cataplexy, seizures and cognitive decline displayed similar median diagnostic delays (4¿5y). The longest median diagnostic delay was associated with hepatosplenomegaly (15y). Highest period prevalence rates were noted for ataxia, dysarthria, vertical supranuclear gaze palsy and cognitive decline. The NP-C suspicion index revealed a median score of 81 points in nine patients at the time of neurological disease onset which is highly suspicious for NP-C disease. At the time of diagnosis, the score increased to 206 points.ConclusionA neurologic-psychiatric disease pattern represents the most characteristic clinical manifestation of NP-C and occurs early in the disease course. Visceral manifestation such as isolated hepatosplenomegaly often fails recognition and thus highlights the importance of a work-up for lysosomal storage disorders. The NP-C suspicion index emphasizes the importance of a multisystem evaluation, but seems to be weak in monosymptomatic and infantile NP-C patients.

Prognóstico de acidentes neurológicos transitórios com sintomas atípicos

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Perceptual evaluation of motor speech following treatment for childhood cerebellar tumour

The speech characteristics, oromotor function and speech intelligibility of a group of children treated for cerebellar tumour (CT) was investigated perceptually. Assessment of these areas was performed on 11 children treated for CT with dysarthric speech as well as 21 non-neurologically impaired controls matched for age and sex to obtain a comprehensive perceptual profile of their speech and oromotor mechanism. Contributing to the perception of dysarthria were a number of deviant speech dimensions including imprecision of consonants, hoarseness and decreased pitch variation, as well as a reduction in overall speech intelligibility for both sentences and connected speech. Oromotor assessment revealed deficits in lip, tongue and laryngeal function, particularly relating to deficits in timing and coordination of movements. The most salient features of the dysarthria seen in children treated for CT were the mild nature of the speech disorder and clustering of speech deficits in the prosodic, phonatory and articulatory aspects of speech production.

Perceptual and instrumental analysis of laryngeal function after traumatic brain injury in childhood

Objective: To investigate laryngeal function and phonatory disturbance in children with traumatic brain injury (TBI), using both perceptual and instrumental techniques. Design and participants: The performance of 16 individuals with moderate to severe TBI acquired in childhood and 16 nonneurologicatly impaired control subjects was compared on a battery of perceptual (Frenchay Dysarthria Assessment, speech sample analysis) and instrumental (Aerophone II, laryngograph) assessments. Results and conclusions: As a group, the children with TBI demonstrated normal, or only minimally impaired laryngeal function, when compared with the control group, which contrasts with the significant laryngeal impairment noted in adults after TBI. Several reasons for the different findings in relation to laryngeal function in adults and children after TBI are postulated: (1) differing types of injury usually incurred by adults and children may result in a relatively decreased degree of neurologic impairment in these children, (2) differences in recovery potential between adults and children, and (3) the pediatric larynx is still developing, hence it may be better able to compensate for any impairment incurred.

Comparability of perceptual analysis of speech characteristics in Australian and Swedish speakers with multiple sclerosis

The aims of the present study were to compare the perceptual assessments of deviant speech signs (dysarthria) exhibited by Australian and Swedish speakers with multiple sclerosis (MS) and to explore whether judgements of dysarthria differed depending on whether the speakers and the judges spoke the same or different languages. Ten Australian and 10 Swedish individuals with MS (matched as closely as possible for age, gender, progression type and severity of dysarthria) were assessed by 2 Australian and 2 Swedish clinically experienced judges using a protocol including 33 speech parameters. Results show that the following perceptual dimensions were identified by both pairs of judges in both groups of speakers to a just noticeable or moderate degree: imprecise consonants, inappropriate pitch level, reduced general rate, and glottal fry. The reliability (Spearman rank-order correlation) of the consensus ratings from the Australian and the Swedish judges was high, with a mean rho of 85.7 for the Australian speakers and mean rho of 84.3 for the Swedish speakers. The most difficult perceptual parameters to assess (i.e. to agree on) included harshness, level of pitch and loudness, precision of consonants and general stress pattern. The study indicated that perceptual assessments of speech characteristics in individuals with MS are informative and can be achieved with high inter-judge reliability irrespective of the judge's knowledge of the speaker's language. Copyright (C) 2003 S. Karger AG, Basel.

Acoustic Investigation of Vocal Quality following Treatment for Childhood Cerebellar Tumour

The aim of the study was firstly to document the acoustic parameters of voice using the Multidimensional Voice Program (MDVP, Kay Elemetrics) in a group of children with dysarthria subsequent to treatment for cerebellar tumour (CT). Then, secondly, compare the acoustic findings to perceptual voice characteristics as described by the GIRBAS (grade, instability, roughness, breathiness, asthenicity, strain). The assessments were performed on 29 voice samples; 9 cerebellar tumour participants with dysarthria, and 20 control participants. None of the control voices were rated as exhibiting any of the six parameters described by the GIRBAS, while 7 of the CT participants were noted to have at least a mild voice disorder. Roughness, instability, breathiness and asthenicity were all identified as voice characteristics in the CT voice samples. Acoustically, the CT voice samples differed significantly from the controls' voices on frequency and amplitude perturbation measures. Our findings confirmed voice dysfunction as a component of dysarthria in children treated for cerebellar tumour, and discussed the links between acoustic and perceptual descriptions. Copyright (C) 2004 S. Karger AG, Basel.

Clinical progression and outcome of dysphagia following paediatric traumatic brain injury: a prospective study

Objectives : To provide a preliminary clinical profile of the resolution and outcomes of oral-motor impairment and swallowing function in a group of paediatric dysphagia patients post-traumatic brain injury (TBI). To document the level of cognitive impairment parallel to the return to oral intake, and to investigate the correlation between the resolution of impaired swallow function versus the resolution of oral-motor impairment and cognitive impairment. Participants : Thirteen children admitted to an acute care setting for TBI. Main outcome measures : A series of oral-motor (Verbal Motor Production Assessment for Children, Frenchay Dysarthria Assessment, Schedule for Oral Motor Assessment) and swallowing (Paramatta Hospital's Assessment for Dysphagia) assessments, an outcome measure for swallowing (Royal Brisbane Hospital's Outcome Measure for Swallowing), and a cognitive rating scale (Rancho Level of Cognitive Functioning Scale). Results : Across the patient group, oral-motor deficits resolved to normal status between 3 and 11 weeks post-referral (and at an average of 12 weeks post-injury) and swallowing function and resolution to normal diet status were achieved by 3-11 weeks post-referral (and at an average of 12 weeks post-injury). The resolution of dysphagia and the resolution of oral-motor impairment and cognitive impairment were all highly correlated. Conclusion : The provision of a preliminary profile of oral-motor functioning and dysphagia resolution, and data on the linear relationship between swallowing impairment and cognition, will provide baseline information on the course of rehabilitation of dysphagia in the paediatric population post-TBI. Such data will contribute to more informed service provision and rehabilitation planning for paediatric patients post-TBI.

Introducing the pressure-sensing palatograph - the next frontier in electropalatography

Primary Objective. To extend the capabilities of current electropalatography (EPG) systems by developing a pressure-sensing EPG system. An initial trial of a prototype pressure-sensing palate will be presented. Research Design. The processes involved in designing the pressure sensors are outlined, with Hall effect transistors being selected. These units are compact, offer high sensitivity and are inexpensive. An initial prototype acrylic palate was constructed with five embedded pressure sensors. Syllable repetitions were recorded from one adult female. Main Outcomes, Results and Future Directions. The pressure-sensing palate was capable of recording dynamic tongue-to-palate pressures, with minimal to no interference to speech detected perceptually. With a restricted number of sensors, problems were encountered in optimally positioning the sensors to detect the consonant lingual pressures. Further developments are planned for various aspects of the pressure-sensing system. Conclusions. Although only in the prototype stage, the pressure-sensing palate represents the new generation of EPG. Comprehensive analysis of tongue-to-palate contacts, including pressure measures, is expected to enable more specific and effective therapeutic techniques to be developed for a variety of speech disorders.

An evaluation of continuous positive airway pressure (CPAP) therapy in the treatment of hypernasality following traumatic brain injury - A report of 3 cases

Objective: To evaluate the effectiveness of continuous positive airway pressure (CPAP) therapy in the treatment of hypernasality following traumatic brain injury (17111). Design: An A-B-A experimental research design. Assessments were conducted prior to commencement of the program, midway, immediately posttreatment, and 1 month after completion of the CPAP therapy program. Participants: Three adults with dysarthria and moderate to severe hypernasality subsequent to TBI. Outcome Measures: Perceptual evaluation using the Frenchay Dysarthria Assessment, the Assessment of Intelligibility of Dysarthric Speech, and a speech sample analysis, and instrumental evaluation using the Nasometer. Results: Between assessment periods, varying degrees of improvement in hypernasality and sentence intelligibility were noted. At the 1-month post-CPAP assessment, all 3 participants demonstrated reduced nasalance values, and 2 exhibited increased sentence intelligibility. Conclusions: CPAP may be a valuable treatment of impaired velopharyngeal function in the TBI population.

Effects of neurosurgical management of Parkinson's disease on speech characteristics and oromotor function

The present study examined the effects of neurosurgical management of Parkinson's disease (PD), including the procedures of pallidotomy, thalamotomy, and deep-brain stimulation (DBS) on perceptual speech characteristics, speech,, intelligibility and oromotor function in a group of 22 participants with PD. The surgical participant group was compared with a group of 25 non-neurologically impaired individuals matched for age and sex. In addition, the study investigated 16 participants with PD who did not undergo neurosurgical management to control for disease progression. Results revealed that neurosurgical intervention did not significantly change the surgical participants' perceptual speech dimensions or oromotor function despite significant postoperative improvements in ratings of general motor function and disease severity. Reasons why neurosurgical intervention resulted in dissimilar outcomes with respect to participants' perceptual speech dimensions and general motor function are proposed.