RESUMO
We examined the allocation of visual attention in an association task by both neurotypical participants (n = 11) and adults with fluent aphasia (n = 12). Participants were presented with a picture (e.g., a basket) followed by a semantically related association (i.e., "strawberry") and an orthographically related association (i.e., "b," the first letter of "basket"). An eye tracker recorded their eye movements for three areas of interest (AOI): the picture, the semantic associate, and the orthographic associate, over 1396 observations. Results showed that both neurotypical participants and participants with aphasia looked longer at the semantic associate than at the picture, and this difference was more pronounced for neurotypicals than for people with aphasia (PWA). Neurotypicals also looked longer than the PWA group at the orthographic associate than at the prior picture. Regarding eye fixation counts, both participant groups looked more frequently at the semantic associate than at either the picture or the orthographic associate. Notably, this pattern was more pronounced among neurotypical participants than PWA. Our findings emphasize the importance of semantic associations in fluent aphasia and suggest a potential rehabilitative approach in speech and language therapy.
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Atenção , Tecnologia de Rastreamento Ocular , Semântica , Humanos , Atenção/fisiologia , Pessoa de Meia-Idade , Masculino , Feminino , Idoso , Afasia de Wernicke/fisiopatologia , Afasia de Wernicke/psicologia , Reconhecimento Visual de Modelos/fisiologia , Adulto , Movimentos Oculares/fisiologia , Associação , Percepção Visual/fisiologiaAssuntos
Astrocitoma , Neoplasias Encefálicas , Humanos , Adulto , Afasia de Wernicke , Fala , Neoplasias Encefálicas/patologiaRESUMO
AIMS: To study the relationship between cognitive and linguistic skills (as measured through standardized tasks) over spontaneous speech elicited during a picture description task. METHODS & PROCEDURES: 21 controls and 19 people with fluent aphasia matched by age and sex were evaluated using transcripts made from a picture description task coded using the CHAT format and analyzed using Computerized Language Analysis (CLAN). Indices obtained from the speech samples contained measures of lexical quantity and diversity, morphosyntactic complexity, informativeness, and speech fluency, along with different kinds of speech errors. We studied their correlations with attentional measures from Conners' Continuous Performance Test and with standardized measures of naming, pseudoword repetition and semantic non-verbal association. We further used stepwise linear regression to analyze the predictive value of standardized linguistic and cognitive skills over discursive indices. OUTCOMES & RESULTS: Contrary to our initial hypothesis, there were no significant correlations between attentional scores and discourse variables in aphasic participants. Moreover, semantic association, along with naming, was the measure more related with discourse performance in people with fluent aphasia, but cognitive and linguistic standardized measures had overall little predictive power on most discourse indices. In the control group, there was a certain association of naming skills and attentional reaction time with discourse variables, but their predictive power was also low. CONCLUSIONS & IMPLICATIONS: The current results do not support a strong relationship between basic attentional skills and performance in descriptive discourse in fluent aphasia. Although some of the standardized tasks seem to bear some relationship with spontaneous speech, there is a high amount of interindividual variability in discourse that is not captured by classical cognitive tasks routinely used in assessment. Further work on the determinants of discourse performance in aphasia and on the clinical application of discourse analysis is warranted.
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Afasia , Semântica , Humanos , Afasia de Wernicke , Afasia/psicologia , Linguística , AtençãoRESUMO
BACKGROUND: Non-hemorrhagic focal neurological deficit is one of the clinical manifestations of intracranial dural arteriovenous fistulas (DAVF). When symptoms appear suddenly, it is difficult to distinguish it from ischemic stroke in certain circumstances, which might easily lead to misdiagnosis. Here, we report a rare case of DAVF with sudden onset sensory aphasia mimicking hyperacute stroke but presented with unexpected regional hyperperfusion on the site corresponding to its symptoms. CASE PRESENTATION: A 76-year-old male with histories of atrial fibrillation and hypertension was admitted to the emergency department due to sudden sensory aphasia. The diagnosis of ischemic stroke was made based on clinical experience after non-contrast CT excluding hemorrhage. As in the absence of clear contraindication, the patient received intravenous thrombolysis. On the cerebral CT perfusion, the left temporal lobe, where the sensory speech center is located, was manifested as regional hyperperfusion. Thrombolysis was subsequently halted, but scheduled cranial imaging indicated hemorrhagic transformation. According to the radiological hint from cranial MRI, the patient was suspected of having DAVF, which was finally confirmed by cerebral digital subtraction angiography. CONCLUSION: When DAVF is presented as sudden onset focal neurological deficit, cranial CT perfusion at an early stage might reveal an abnormal hyperperfusion pattern. Clinicians should be aware of the diagnostic possibility of DAVF in this situation and double-review the CT angiography image to reduce missed diagnoses.
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Malformações Vasculares do Sistema Nervoso Central , AVC Isquêmico , Acidente Vascular Cerebral , Masculino , Humanos , Idoso , Afasia de Wernicke , Malformações Vasculares do Sistema Nervoso Central/diagnóstico , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Imageamento por Ressonância Magnética , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/diagnóstico por imagem , Angiografia CerebralRESUMO
Aphasia is a common consequence of stroke and repetitive transcranial magnetic stimulation (rTMS) may be a promising brain stimulation technique in the treatment of aphasia. However, there are few reports about the therapeutic effect of rTMS for Broca's area in patients with sensory aphasia. This study reported one stroke patient with sensory aphasia who received 6 treatment sessions of low-frequency rTMS before speech and language therapy. The target area was the Broca mirror area in the right hemisphere. After treatment, the auditory comprehension of the patient improved from 46 to 112, the naming improved from 18 to 32, and the AQ improved from 34.2 to 42.6. However, the level of functional language, spontaneous speech and repetition did not show obvious improvement.
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Afasia , Acidente Vascular Cerebral , Afasia/etiologia , Afasia/terapia , Afasia de Wernicke/complicações , Área de Broca , Compreensão , Humanos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/terapia , Estimulação Magnética Transcraniana/métodosRESUMO
Wernicke's area has been assumed since the 1800s to be the primary region supporting word and sentence comprehension. However, in 2015 and 2019, Mesulam and colleagues raised what they termed the 'Wernicke conundrum', noting widespread variability in the anatomical definition of this area and presenting data from primary progressive aphasia that challenged this classical assumption. To resolve the conundrum, they posited a 'double disconnection' hypothesis: that word and sentence comprehension deficits in stroke-based aphasia result from disconnection of anterior temporal and inferior frontal regions from other parts of the brain due to white matter damage, rather than dysfunction of Wernicke's area itself. To test this hypothesis, we performed lesion-deficit correlations, including connectome-based lesion-symptom mapping, in four large, partially overlapping groups of English-speaking chronic left hemisphere stroke survivors. After removing variance due to object recognition and associative semantic processing, the same middle and posterior temporal lobe regions were implicated in both word comprehension deficits and complex non-canonical sentence comprehension deficits. Connectome lesion-symptom mapping revealed similar temporal-occipital white matter disconnections for impaired word and non-canonical sentence comprehension, including the temporal pole. We found an additional significant temporal-parietal disconnection for non-canonical sentence comprehension deficits, which may indicate a role for phonological working memory in processing complex syntax, but no significant frontal disconnections. Moreover, damage to these middle-posterior temporal lobe regions was associated with both word and non-canonical sentence comprehension deficits even when accounting for variance due to the strongest anterior temporal and inferior frontal white matter disconnections, respectively. Our results largely agree with the classical notion that Wernicke's area, defined here as middle superior temporal gyrus and middle-posterior superior temporal sulcus, supports both word and sentence comprehension, suggest a supporting role for temporal pole in both word and sentence comprehension, and speak against the hypothesis that comprehension deficits in Wernicke's aphasia result from double disconnection.
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Afasia , Conectoma , Acidente Vascular Cerebral , Humanos , Afasia de Wernicke , Compreensão , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagem , Mapeamento Encefálico , Imageamento por Ressonância MagnéticaRESUMO
Aphasia, resulting from a brain lesion, leads to a partial or total loss of language in the elderly. By affecting communication abilities, it has repercussions on the life of the subject and his family. There are two types of aphasia. The roles of the caregiver and the speech therapist are in all cases essential. Depending on the communication difficulties encountered by the patient, specific supports can be recommended.
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Afasia de Wernicke , Geriatria , Idoso , Afasia de Broca/patologia , HumanosRESUMO
PURPOSE: The objective of this study was to explore receptiveness of people with poststroke aphasia to receiving transcranial direct current stimulation (tDCS), including preferences for the treatment setting and schedule of tDCS delivery. METHOD: An online survey was distributed via e-mail, flyers, social media, and online newsletters to reach people with aphasia. Fisher's exact test examined the relationship of self-reported tDCS receptiveness to demographic, clinical, and other factors. RESULTS: Fifty-seven surveys were returned, and 50 complete surveys were analyzed. Twenty-eight percent of respondents had previously heard of tDCS. Sixty-six percent reported they would receive tDCS if it could help their aphasia, and only 6% reported that they definitely would not. There were statistically significant relationships between being receptive to tDCS and (a) not currently working, (b) being receptive to speech-language therapy, and (c) greater acceptance of potential temporary risks associated with tDCS. Most individuals (73%) who would consider tDCS were equivalently open to receiving it in the clinic or at home, yet the majority (64%) were open to more frequent sessions at home than in the clinic. Most respondents indicated that they would consider having tDCS "forever if it helped" (clinic: 51%; home: 68%). CONCLUSIONS: This is the first study to query individuals with aphasia about their receptiveness to tDCS outside the context of an intervention study. Responses suggest that a large majority of people with poststroke aphasia might be open to receiving tDCS if it can ameliorate their aphasia. Limitations include the small sample size, which does not adequately represent the broader population of people with aphasia, and that the survey did not provide the level of tDCS education crucial to inform shared decision making and person-centered care. However, future work may benefit from considering the practical implications of research designs (e.g., high intensity treatment outside the home) that may not, in application, be widely acceptable to primary stakeholders. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.19611777.
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Afasia , Acidente Vascular Cerebral , Estimulação Transcraniana por Corrente Contínua , Afasia/complicações , Afasia/terapia , Afasia de Wernicke , Humanos , Autorrelato , Fonoterapia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/terapiaRESUMO
PURPOSE: Aphasia fluency is multiply determined by underlying impairments in lexical retrieval, grammatical formulation, and speech production. This poses challenges for establishing a reliable and feasible tool to measure fluency in the clinic. We examine the reliability and validity of perceptual ratings and clinical perspectives on the utility and relevance of methods used to assess fluency. METHOD: In an online survey, 112 speech-language pathologists rated spontaneous speech samples from 181 people with aphasia (PwA) on eight perceptual rating scales (overall fluency, speech rate, pausing, effort, melody, phrase length, grammaticality, and lexical retrieval) and answered questions about their current practices for assessing fluency in the clinic. RESULTS: Interrater reliability for the eight perceptual rating scales ranged from fair to good. The most reliable scales were speech rate, pausing, and phrase length. Similarly, clinicians' perceived fluency ratings were most strongly correlated to objective measures of speech rate and utterance length but were also related to grammatical complexity, lexical diversity, and phonological errors. Clinicians' ratings reflected expected aphasia subtype patterns: Individuals with Broca's and transcortical motor aphasia were rated below average on fluency, whereas those with anomic, conduction, and Wernicke's aphasia were rated above average. Most respondents reported using multiple methods in the clinic to measure fluency but relying most frequently on subjective judgments. CONCLUSIONS: This study lends support for the use of perceptual rating scales as valid assessments of speech-language production but highlights the need for a more reliable method for clinical use. We describe next steps for developing such a tool that is clinically feasible and helps to identify the underlying deficits disrupting fluency to inform treatment targets. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.19326419.
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Afasia , Afasia/diagnóstico , Afasia de Broca/diagnóstico , Afasia de Wernicke , Humanos , Linguística , Reprodutibilidade dos Testes , FalaRESUMO
Of all the nineteenth-century physicians whose names still resonate today, Armand Trousseau is perhaps the one most familiar, for his description of carpal spasm as a sign of hypocalcemia (Trousseau's sign) and his description of the hypercoagulable state associated with cancer (Trousseau's syndrome). In the last three years of his life, Trousseau turned his attention to aphasia, which he included in his 1864 and 1865 lectures given at Hôtel-Dieu Hospital in Paris and which he discussed in an address to the Imperial Academy of Medicine in 1865. Trousseau preceded Wernicke in describing aphasia as a symptom complex, in which he included Broca's aphemia, receptive aphasia, the inability to read with and without the inability to write (alexia with and without agraphia), the inability to name common objects (amnesic aphasia or anomia) and to recognize numbers (acalculia), and the inability to draw. Trousseau concluded that such a varied symptomatology could not arise from a single area, and he proposed that lesions of the posterior inferior frontal convolution identified by Broca, of the insula and corpus striatum and of the temporal and parietal lobes, could give rise to aphasia. The role of the posterior temporal lobe in receptive aphasia was confirmed by Wernicke in 1874, and the role of the inferior parietal lobule in agraphia and alexia was confirmed by Dejerine in 1891. Trousseau thought that aphasia resulted from the loss of the memory for words and for the synergistic actions of the movements of articulations learned in early childhood. Trousseau added inattention, lack of comprehension, and cognitive decline to amnesia as contributing factors to the verbal and nonverbal expression of thought. Trousseau constructed a comprehensive theory of aphasia that unified its semiology, localization, and pathophysiology. This construct had the virtue of being predictive and falsifiable by the clinico-pathological method. Through insight born of observation, Trousseau identified the issues that dominated aphasiology into the twenty-first century.
Assuntos
Agrafia , Afasia , Dislexia , Médicos , Afasia/etiologia , Afasia/história , Afasia/psicologia , Afasia de Broca , Afasia de Wernicke , Pré-Escolar , Humanos , MasculinoRESUMO
Aphasia induced by an infratentorial stroke has rarely been reported, and its mechanism has not been fully identified. We evaluated two individuals who had been admitted to Saiseikai Kumamoto Hospital in Kumamoto, Japan, due to acute ischemic stroke in order to determine whether their aphasia was induced by an infratentorial stroke. The first patient, a 59-year-old man with a history of left parietal embolic stroke with very mild sequelae of anomia, developed Wernicke's aphasia, nonfluent speech, and right limb ataxia as a result of the stroke. The second patient, a 76-year-old woman with a history of chronic renal failure, experienced transcortical sensory aphasia and right one-and-a-half syndrome as a result of the stroke. Both patients' recent ischemic lesions were limited to the right cerebellar hemisphere and the right medial portion of the midbrain. However, SPECT showed low-uptake lesions in both patients' left cerebral hemisphere that did not include the recent ischemic lesions but that had spread to an extent that was difficult to be explained by the old or recent ischemic lesions and that might be responsible for their recent aphasia. We believe that the aphasia experienced by these two patients may have been caused by crossed cerebello-cerebral diaschisis.
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Afasia , Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Idoso , Afasia/etiologia , Afasia de Wernicke , Isquemia Encefálica/complicações , Isquemia Encefálica/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagemRESUMO
BACKGROUND: Global aphasia without hemiparesis (GAWH) is a rare stroke syndrome characterized by the dissociation of motor and language functions. Here, we present a case of GAWH with the patient later regaining speech fluency. CASE PRESENTATION: A 73-year-old man was admitted to our emergency department immediately after an episode of syncope. On arrival, we noted his global aphasia but without any focal neurologic signs. Computed tomography (CT) perfusion scans showed a large hypodense region over his left perisylvian area. Under the impression of acute ischaemic stroke, he received recombinant tissue plasminogen activator (rtPA) injection and was treated as an inpatient. The patient was later discharged with GAWH status and received regular speech rehabilitation. After 14 months of rehabilitation, the patient gradually recovered his language expression ability. The degree of aphasia was evaluated with the Concise Chinese Aphasia Test (CCAT), and we obtained brain single photon emission computed tomography (SPECT) scans to assess cerebral blood flow. CONCLUSION: A patient with severe impairments of Broca's and Wernicke's areas was able to talk fluently despite being unintelligible. SPECT revealed relative high level of radioactivity uptake in the right frontal lobe, suggesting the deficits in speech fluency could have been compensated by the right hemisphere. Although this is a single case demonstration, the results may strengthen the role of the right hemisphere in GAWH patients and suggests additional study that examines the possible benefits of stimulating activity at right homologous regions for recovering language function after global aphasia.
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Afasia de Wernicke/etiologia , Afasia/etiologia , AVC Isquêmico/complicações , Idoso , Afasia/reabilitação , Afasia de Wernicke/reabilitação , Humanos , Masculino , Tomografia Computadorizada de Emissão de Fóton ÚnicoRESUMO
A 66-year-old right-handed female medical doctor suffered two consecutive cardioembolic strokes, initially affecting the right frontal lobe and the right insula, followed by a lesion in the left temporal lobe. The patient presented with distinctive phenomenology of general auditory agnosia with anosognosia for the deficit. She did not understand verbal requests and her answers to oral questions were fluent but unrelated to the topic. However, she was able to correctly answer written questions, name objects, and fluently describe their purpose, which is characteristic for verbal auditory agnosia. She was also unable to recognise environmental sounds or to recognise and repeat any melody. These inabilities represent environmental sound agnosia and amusia, respectively. Surprisingly, she was not aware of the problem, not asking any questions regarding her symptoms, and avoiding discussing her inability to understand spoken language, which is indicative of anosognosia. The deficits in our patient followed a distinct pattern of recovery. The verbal auditory agnosia was the first to resolve, followed by environmental sound agnosia. Amusia persisted the longest. The patient was clinically assessed from the first day of symptom onset and the evolution of symptoms was video documented. We give a detailed account of the patient's behaviour and provide results of audiological and neuropsychological evaluations. We discuss the anatomy of auditory agnosia and anosognosia relevant to the case. This case study may serve to better understand auditory agnosia in clinical settings. It is important to distinguish auditory agnosia from Wernicke's aphasia, because use of written language may enable normal communication.
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Agnosia , Afasia , Idoso , Afasia de Wernicke , Feminino , Humanos , Testes Neuropsicológicos , Lobo Temporal/diagnóstico por imagemRESUMO
PRIMARY OBJECTIVE: The assessment of language in patients post-comatose patients is limited by their reduced behavioral repertoire. We developed the Brief Evaluation of Receptive Aphasia (BERA) tool for assessing phonological, semantic and morphosyntactic abilities in patients with severe brain injury based on visual fixation responses. RESEARCH DESIGN: Prospective cross-sectional study and case reports. METHODS AND PROCEDURE: The BERA and Language Screening Test were first administered to 52 conscious patients with aphasia on two consecutive days in order to determine the validity and reliability of the BERA. Four post-comatose patients were further examined with the BERA, the Coma Recovery Scale-Revised (CRS-R), positron emission tomography and structural magnetic resonance imaging. MAIN OUTCOME AND RESULTS: The BERA showed satisfactory intra- and inter-rater reliability, as well as internal and concurrent validity in patients with aphasia. The BERA scores indicated selective receptive difficulties for phonological, semantic and particularly morphosyntactic abilities in post-comatose patients. These results were in line with the cortical distribution of brain lesions. CONCLUSIONS: The BERA may complement the widely used CRS-R for assessing and diagnosing patients with disorders of consciousness by providing a systematic and detailed characterization of residual language abilities.
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Lesões Encefálicas , Transtornos do Desenvolvimento da Linguagem , Afasia de Wernicke , Lesões Encefálicas/complicações , Estudos Transversais , Humanos , Estudos Prospectivos , Reprodutibilidade dos TestesRESUMO
BACKGROUND: Although discourse-level assessments contribute to predicting real-world performance in persons with aphasia (PWA), the use of discourse measures is uncommon in clinical settings due to resource-heavy procedures. Moreover, assessing function word use in discourse requires the arduous procedure of defining grammatical categories for each word in language transcripts. AIMS: The purpose of this exploratory study was twofold: (1) to develop core function word lists as a clinician-friendly means of evaluating function word use in discourse; and (2) to examine the ability of the core function word measure to differentiate PWA from cognitively healthy adults and persons with fluent aphasia from non-fluent aphasia. METHODS & PROCEDURES: The 25 most commonly used function words (core function words) were extracted from narrative language samples from 470 cognitively healthy adults, which were divided into seven age groups (20s, 30s, 40s, 50s, 60s, 70s and 80s). The percent agreement of core function words for 11 PWA (fluent aphasia = 5; non-fluent aphasia = 6) and 11 age- and education-matched controls were then calculated. Percent agreement for the core function words produced was compared between the controls and the PWA group, and between participants with fluent aphasia and non-fluent aphasia. OUTCOMES & RESULTS: The results indicated that PWA produced fewer core function words from the lists than the control group, and that core function word use was strongly correlated with aphasia severity. Persons with non-fluent aphasia produced fewer core function words than those with fluent aphasia, although this could be a confound of aphasia classification from the use of the Western Aphasia Battery (WAB)-Revised. CONCLUSIONS & IMPLICATIONS: Core function word lists consisting of a limited number of items for quantifying function word use in discourse remain in a nascent stage of development. However, the findings are consistent with previous studies analysing the total production of function words in language samples produced by PWA. Therefore, core function words may potentially serve as a clinician-friendly manner of quantifying function words produced in discourse. What this paper adds What is already known on the subject Function word analysis in discourse requires arduous processes of identifying the error production and grammatical category of function words in discourse. Previous studies have demonstrated that core lexicon measures are an efficient, simple means of quantifying discourse in PWA. However, function words have never been considered for generating an independent core lexicon list. What this paper adds to existing knowledge As an exploratory study, we focused primarily on developing a clinician-friendly measure to evaluate function word production in discourse, motivated by the idea of an adaptation strategy within the core lexicon framework. Our findings demonstrated that by using a simple scoring system that the core lexicon measure provides, we differentiated the control group from the PWA group, and persons with fluent aphasia from persons with non-fluent aphasia. Additionally, we found significant correlations between function word production and aphasia severity determined by WAB Aphasia Quotient (AQ). What are the potential or actual clinical implications of this work? The results add empirical evidence for the utility of core function word lists for quantifying function word usage in discourse in PWA. Counting the presence and absence of function words in discourse will allow clinicians to avoid labour-intensive preparatory work, and to obtain useful diagnostic information in a less time-consuming way.
Assuntos
Afasia , Afasia/diagnóstico , Afasia de Wernicke , Humanos , Idioma , NarraçãoRESUMO
Through cognitive task performance, we examined the functional role of finger writing (kusho) in a Japanese patient with moderate sensory aphasia and reading difficulties. We hypothesized that the visual feedback of kusho would improve visual language processing, which we tested with a "kanji construction task" using character subparts. Results showed a higher number of correct responses 1) when the patient used kusho and 2) when visual feedback of finger movements was available. The results suggest that kusho may not improve the retrieval of phonological information but does aid the visual processing necessary to assemble character subparts.
Assuntos
Afasia de Wernicke , Retroalimentação Sensorial , Dedos , Humanos , Idioma , Leitura , RedaçãoRESUMO
BACKGROUND: Aphasia often appears in persons living with dementia; however, aphasia and the mirror phenomenon are rarely present at the same time. CASE PRESENTATION: Here, we report a case of fluent conversation with a person in a mirror or a magazine, and examine the underlying mechanism using brain imaging and neuropsychological findings. We found that the appearance of the mirror phenomenon may be associated with a visuospatial dysfunction caused by a decreased function of the posterior region of the right temporal and parietal lobe. Moreover, active talking to a person in a mirror or a person in a magazine could be associated with disinhibition caused by a decline in bilateral frontal lobe function. CONCLUSIONS: This case represents a very valuable and interesting presentation because it is the first report of a long-term follow-up of the course of dementia using neurological imaging, and of the neuropsychological analysis of the mechanism of conversation with a mirror image combined with aphasia.
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Doença de Alzheimer/complicações , Afasia de Wernicke/fisiopatologia , Encéfalo/patologia , Idoso , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/fisiopatologia , Afasia de Wernicke/diagnóstico por imagem , Afasia de Wernicke/etiologia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Neuroimagem , Testes NeuropsicológicosRESUMO
INTRODUCTION: The 22q11 deletion syndrome (S22q11) is one of the most prevalent genetic disorders, resulting in multiple systemic and neuropsychological features. AIM: To describe the language profile in a sample of Spanish subjects with S22q11. PATIENTS AND METHODS: A sample of 30 Spanish participants with S22q11 aged between 5 years and 21 years and 11 months (mean: 12.14 ± 4.20 years) was evaluated using standardized tests and a questionnaire administered to parents. RESULTS: Almost half of the subjects obtained better results in expressive language than in comprehensive language and the majority obtained a higher score in language content than in language memory. The results suggest that people with S22q11 present language difficulties that improve with age to a certain level and subsequently stabilize. A specific profile is observed that suggests that pragmatic difficulties are a consequence of this language profile and not only of social difficulties already described in this pathology. CONCLUSIONS: In the sample of the present study, children and young people with S22q11 present specific language and pragmatic disorders. More than half of the study participants did not obtain significant differences between the level of expressive and receptive language. Most presented semantic fluency difficulties. The type and degree of impairment in pragmatic skills suggest that the basic problem may be related to their language difficulties.
TITLE: Lenguaje de niños y jóvenes con síndrome de deleción 22q11.Introducción. El síndrome de deleción 22q11 (S22q11) es uno de los trastornos genéticos más prevalentes, y presenta múltiples alteraciones sistémicas y neuropsicológicas. Objetivo. Describir el perfil de lenguaje y pragmática asociado a este síndrome. Pacientes y métodos. Se evaluó una muestra de 30 participantes españoles con S22q11 de edades comprendidas entre 5 años, y 21 años y 11 meses (media: 12,14 ± 4,2 años) mediante pruebas estandarizadas y un cuestionario administrado a los padres. Resultados. Casi la mitad de la muestra obtuvo mejores resultados en el lenguaje expresivo que en el comprensivo, y la mayoría logró una mayor puntuación en el contenido del lenguaje que en la memoria del lenguaje. Los resultados sugieren que las personas con S22q11 presentan dificultades de lenguaje que mejoran con la edad hasta cierto nivel y, posteriormente, se estabilizan. Se observa un perfil específico que sugiere que las dificultades pragmáticas son consecuencia de este perfil de lenguaje y no sólo de dificultades sociales ya descritas en esta patología. Conclusiones. En la muestra del presente estudio, los niños y jóvenes con S22q11 presentan alteraciones específicas del lenguaje y la pragmática. Más de la mitad de los participantes del estudio no obtuvieron diferencias significativas entre el nivel de lenguaje expresivo y el receptivo. La mayoría presentó dificultades de fluencia semántica. El tipo y el grado de las alteraciones que presentan en las habilidades pragmáticas sugieren que el problema básico podría estar relacionado con sus dificultades lingüísticas.
Assuntos
Síndrome da Deleção 22q11/complicações , Transtornos do Desenvolvimento da Linguagem/etiologia , Adolescente , Afasia de Broca/etiologia , Afasia de Broca/genética , Afasia de Wernicke/etiologia , Afasia de Wernicke/genética , Criança , Pré-Escolar , Escolaridade , Feminino , Humanos , Transtornos do Desenvolvimento da Linguagem/genética , Testes de Linguagem , Masculino , Pais , Classe Social , Inquéritos e Questionários , Qualidade da Voz , Adulto JovemRESUMO
BACKGROUND: Blood culture-negative endocarditis (BCNE) is diagnosed in 2-7% of patients with infective endocarditis (IE) and recent antibiotic use is a known risk factor. Altered mental status may be a presenting symptom. Besides empiric antibiotics, intravenous anticoagulation using heparin may have a role in the management of such patients. CASE PRESENTATION: A 23-year-old male patient was referred to our center with fever, altered mental status and abnormal gait. Neurologic examination revealed Wernicke's aphasia. Cardiac auscultation revealed systolic murmur at the left sternal border. ECG (electrocardiogram) was unremarkable. Brain MRI showed multiple cerebellar lesions. Transthoracic echocardiography (TTE) demonstrated three large masses on the right ventricle (RV), tricuspid valve (TV), and anterior mitral valve (MV) leaflet. Blood cultures (three sets) were negative. Intravenous heparin therapy was administered. After 48 h, the second TTE demonstrated that one valvular lesion disappeared and the other two lesions showed a significant decrease in size. The patient's neurological symptoms resolved gradually. Further workup for collagen vascular disorders did not show any abnormality. CONCLUSION: BCNE should be considered in patients with fever and neurologic manifestations. TTE should be performed to detect valvular abnormalities. Intravenous heparin could be used in such patients when TTE demonstrate valvular vegetations.