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PubMed2005

[Perisylvian syndrome: report of one Brazilian family with focus on the genetic mode of inheritance and clinical spectrum].

Perisylvian syndrome (PS) refers to a variety of clinical manifestations associated with lesions in the perisylvian or opercular region. Acquired lesions such as cerebrovascular diseases or virus encephalitis and congenital lesions such as polymicrogyria (PMG) may be implied as etiological factors. The onset of the PS may occur in early childhood. The aim of this study was to report one family with PS in order to draw attention to this rarely diagnosed entity. Our family has five affected patients, three children and two male adults. All of them had developmental language disorder. Epilepsy, motor deficit and pseudobulbar signs (such as drooling) were detected in one child who had diffuse PMG along the Sylvian fissure. Subtle clinical manifestations correlated with either subtle MRI findings or normal MRI. Most reported families provide evidence suggestive of X-linked transmission. However, the most likely mode of inheritance in our family is autosomal dominant, since a male to male transmission was documented.

Adult↗
PubMed1994

[Ischemic lesion of the CNS in patients with systemic lupus erythematosus].

UNLABELLED: In a review of 240 patients with Systemic Lupus Erythematosus we found 12 (5%) with cerebral infarctions. The average patient age was 38 years and no relation with the duration of lupus was found. The most common neurologic manifestations were hemiparesis (67%), language disturbances (25%) and ataxia (25%). Clinical signs of diffuse involvement of Central Nervous System (CNS) were also present in 1/3 of the patients. In 5 cases (42%) no signs of lupus activity were found. In the remaining 7 (58%), where other manifestations occurred, all presented cutaneous vasculitis. Known risk factors for atherosclerotic vascular disease were common and 58% of the patients had at least one risk factor. IN CONCLUSION: 1. Recent onset cutaneous vasculitis should alert the physician to the possibility of CNS ischemic lesion and 2. The presence of risk factors for cerebrovascular disease (steroid therapy, hypertension and hypercholesterolemia) is frequent and may be controlled.

Adolescent↗
PubMedDate not supplied

Dyslexia in adults is associated with clinical signs of fatty acid deficiency.

Developmental dyslexia is a complex syndrome whose exact cause remains unknown. It has been suggested that a problem with fatty acid metabolism may play a role, particularly in relation to the visual symptoms exhibited by many dyslexics. We explored this possibility using two self-report questionnaires, designed on the basis of clinical experience, to assess (1) clinical signs of fatty acid deficiency; and (2) symptoms associated with dyslexia in known dyslexic and non-dyslexic subjects. Dyslexic signs and symptoms included the auditory-linguistic and spoken language difficulties traditionally associated with the disorder, as well as visual problems (both with reading and more generally) and motor problems. Fatty acid deficiency signs were significantly elevated in dyslexic subjects relative to controls, particularly within males (P<0.001). In addition, the severity of these clinical signs of fatty acid deficiency was strongly correlated with the severity of dyslexic signs and symptoms not only in the visual domain, but also with respect to auditory, linguistic and motor problems. The pattern of relationships differed somewhat between dyslexic and control groups, and sex differences were also observed. Our findings support the hypothesis that fatty acid metabolism may be abnormal in developmental dyslexia, and indicate the need for further studies using more objective measures.

Adult↗
PubMed2003

Eponyms and the diagnosis of aortic regurgitation: what says the evidence?

BACKGROUND: Chronic aortic regurgitation can lead to significant morbidity and mortality. For more than a century, numerous eponymous signs of aortic regurgitation have been described in textbooks and the literature. PURPOSE: To compare current textbook content with the peer-reviewed literature on the eponymous signs of aortic regurgitation and to assess the role of these signs in clinical practice. DATA SOURCES: 11 textbooks, MEDLINE (1966 through October 2002), and bibliographies of textbooks and relevant papers. STUDY SELECTION: English-language reports that were related to the properties of a sign on physical examination, incorporated more than 10 adults, and did not involve prosthetic heart valves or acute aortic regurgitation. DATA EXTRACTION: Three investigators independently analyzed relevant textbook extracts and 27 reports, using predetermined qualitative review criteria. Data relating to diagnostic accuracy and properties of the index test were also extracted. DATA SYNTHESIS: Twelve eponymous signs were described as having varying degrees of importance by textbook authors. Only the Austin Flint murmur, the Corrigan pulse, the Duroziez sign, and the Hill sign had sufficient original literature for detailed review. Most reports were low quality, with varying sensitivities for all signs. Except for the Hill sign, specificity tended to be poor. Evidence for the Hill sign also suggested a correlation between the popliteal-brachial gradient and aortic regurgitation severity. CONCLUSIONS: Prominent textbook support of the eponymous signs of aortic regurgitation is not matched by the literature. Clinicians and educators should update and improve the evidence for these signs to ensure their relevance in current medical practice.

Aged↗
PubMed1996

Thalamic haemorrhage.

Thalamic haemorrhage is usually considered a single entity although the thalamus is composed of anatomically as well as functionally discrete subregions receiving blood from different arteries. The clinical features vary according to the intrathalamic location of the haematomas and the bleeding artery. We investigated the impact of haematoma location and vascular territory on the clinical symptoms and signs, neuro-imaging findings and clinical courses of patients with thalamic haemorrhages by a retrospective analysis of 175 consecutive patients with thalamic haemorrhage. Based on the neuro-imaging findings we classified thalamic haematomas into four regional types and one global type according to the primary bleeding sites: (i) anterior type occurring in the territory of the tuberothalamic arteries, (ii) posteromedial type occurring in the territory of the thalamic-subthalamic paramedian arteries, (iii) posterolateral type occurring in the territory of the thalamogeniculate arteries. (iv) dorsal type occurring in the territory of the posterior choroidal arteries and (v) global type occupying the entire area of the thalamus. We studied the clinical and neuroimaging characteristics of each type. Eleven patients (7%) had the anterior type: these were the smallest haematomas and often ruptured into the anterior horn of the lateral ventricle. The major clinical signs were acute behavioural abnormalities: the clinical course was usually benign. Twenty-four patients (14%) had the posteromedial type in which haematomas often ruptured into the third ventricle, causing marked hydrocephalus, and often extended mediocaudally, involving the mesencephalon. The prognoses of this type depended on the presence of mesencephalic involvement which was associated with the worst outcome among the types even if the size of the haematoma itself was not large. The posterolateral type was most frequent (77 patients, 44%) and was characterized by large haematomas, rupture into the posterior horn of the lateral ventricle and frequent extension into the posterior limb of the internal capsule. Clinical signs included marked sensory and motor signs, hemineglect in right-side haematomas and language abnormalities with left-side haematomas. The case fatality with this type was relatively high (35%) and permanent neurologic sequelae frequently resulted. In the dorsal type (32 patients, 18%) haematomas were best visualized at the level of the body of the lateral ventricle on CT scans. The size was moderate and haematomas often extended posterolaterally into the adjacent subcortical white matter. Sensory and motor signs were common and about one third of the patients were first misdiagnosed as having lacunar infarcts. The prognoses were excellent. The global type (31 patients, 18%) of thalamic haemorrhage was clinically and radiologically very similar to the posterolateral type except that the haematomas were too large to define the bleeding focus. Severe sensory and motor signs were almost always present. In this type 25 patients died (the case fatality was 81%).

Adolescent↗
PubMed1982

Language development at the age of 3 years of infants malnourished in utero.

To evaluate if language testing might provide useful information about the developmental outcome at pre-school age of term infants malnourished in utero, a group of these infants was studied in combination with a group of normally grown term infants matched for age, sex, birth rank and social class. Both groups were free from significant neonatal morbidity and debilitating diseases. Intrauterine malnutrition was defined as underweight for gestational age and the presence of wasting to select those S.G.A. infants with easily recognizable signs of malnutrition at birth. The Reynell Developmental Language Scales were used to test language and the results were related to a separate assessment of behaviour and neurology. Both verbal comprehension and expressive language were significantly less developed in infants malnourished in utero. A firm relation was established between language delay and behaviour problems. It was concluded that language development can be used to assess the developmental progress of infants malnourished in utero if performed in combination with behaviour assessment. Many of these infants will benefit by speech therapy during behaviour therapy at pre-school age.

Brain↗
PubMedDate not supplied

[Characterization of the linguistic profile of a family with Perisylvian Syndrome].

BACKGROUND: Perisylvian syndrome refers to a variety of clinical manifestations associated to lesions in the perisylvian or opercular regions. Polymicrogyria is the most common structural malformation found. The syndrome may be inherited and the clinical spectrum includes subtle language disturbances on one end and more severe characteristics such as prominent pseudobulbar signs and refractory epilepsy on the other end. Other studies have already associated perisylvian polymicrogyria with developmental language disorders or specific language impairment. AIM: to describe the language deficits of four members of a family with Perisylvian Syndrome, and to correlate these deficits to neuroimaging data. METHOD: The patients underwent neuroimaging investigation, psychological assessment using the Weschler Intelligence Scales, and specific speech-language evaluation. The following tests were used for the assessment of vocabulary, phonology, syntax, pragmatics, reading and writing: Thematical Pictures of Yavas, ABFW-Child Language Test, Peabody Picture Vocabulary Test (PPVT), and other specific protocols. RESULTS: Magnetic resonance imaging revealed perisylvian polymicrogyria in all of the subjects, with varied locations and extensions. Speech-language assessment indicated significant oral and written language deficits in all of the subjects. CONCLUSION: The obtained data indicate that language impairment can co-exist with reading deficits in members of the same family. Neuroimaging findings reveal cortical alterations that are associated to specific language impairments within the spectrum of the Perisylvian Syndrome. Another important aspect evidenced by this study is the similarities in the language profiles of siblings and mother, suggesting that a variety of linguistic manifestations exist within the spectrum of the syndrome. Perisylvian polymicrogyria can be one of the neurobiological malformations involved in the manifestation of these deficits.

Adolescent↗
PubMed1994

[Language use in medicine].

Language is a main constituent of communication. To understand its signs it is necessary for doctors to use different codes depending on whether they communicate with each other, with their patients, or outsiders. Such codes are every day language, technical language, scientific language and language to the knowledge of different groups of non-specialists.

Communication↗
PubMed1991

Augmentative communication systems taught to cerebral-palsied children--a longitudinal study. II. Pragmatic features of sign and symbol use.

Pragmatic analysis of the sign and symbol utterances produced by 40 language-impaired, cerebral-palsied children in semi-structured conversational settings revealed severe restrictions in the range of communicative functions that were used. The children were able to communicate certain conversational acts effectively, but over 80% of all utterances expressed just four communicative functions. There were also some significant gaps, with certain functions not being used at all. The children's progress was followed up at 6-month intervals over a period of 1 1/2 years. Few changes were found in the range and relative frequencies of communicative functions expressed over time. There were few significant differences between the symbol and sign users on these measures, which suggests that overall neither augmentative mode facilitated greater communicative use than the other.

Cerebral Palsy↗
PubMed1998

Morphology of the inferior frontal gyrus in developmentally language-disordered adults.

The inferior frontal gyrus has traditionally been considered an important cortical region for language and may be important for understanding developmental language disorders. The morphology of the inferior frontal gyrus, as it appeared on T1-weighted sagittal magnetic resonance imaging (MRI) scans, was evaluated using a classification system that distinguished between seven basic morphological variants of the gyral and sulcal patterns in this region. This classification scheme was applied to the MRI scans of 41 neurologically normal adult subjects. To examine the relation between sulcal morphology and subject status, these subjects were sorted first by family history for developmental language disorders and then resorted by expression of behavioral signs consistent with a diagnosis of this disorder as determined by standardized testing. Morphological types that included an extra sulcus in the inferior frontal gyrus were statistically associated with the behaviorally based classification of subjects, but not with a positive family history for developmental language disorders. Because gyral patterns are prenatally determined, this finding is consistent with the theory that altered prenatal development contributes to the expression of a developmental language disorder.

Adult↗
PubMed2004

Expressing generic concepts with and without a language model.

Utterances expressing generic kinds ("birds fly") highlight qualities of a category that are stable and enduring, and thus provide insight into conceptual organization. To explore the role that linguistic input plays in children's production of generic nouns, we observed American and Chinese deaf children whose hearing losses prevented them from learning speech and whose hearing parents had not exposed them to sign. These children develop gesture systems that have language-like structure at many different levels. The specific question we addressed in this study was whether the gesture systems, developed without input from a conventional language model, would contain generics. We found that the deaf children used generics in the gestures they invented, and did so at about the same rate as hearing children growing up in the same cultures and learning English or Mandarin. Moreover, the deaf children produced more generics for animals than for artifacts, a bias found previously in adult English- and Mandarin-speakers and also found in both groups of hearing children in our current study. This bias has been hypothesized to reflect the different conceptual organizations underlying animal and artifact categories. Our results suggest that not only is a language model not necessary for young children to produce generic utterances, but the bias to produce more generics for animals than artifacts also does not require linguistic input to develop.

Child Language↗
PubMed1984

Acquisition of spoken and signed English by profoundly deaf children.

A sample of 327 profoundly deaf children from oral/aural (OA) and total communication (TC) programs across the country was tested on the Grammatical Analysis of Elicited Language--Simple Sentence Level (GAEL-S), which measures production of selected English language structures. Results were analyzed separately for four different response modes: the oral productions of OA children, the oral productions of TC children, the manual productions of TC children, and the combined productions of TC children. Percentage correct scores for the oral productions of TC children were substantially below scores for their manual productions and below the scores of OA children in all grammatical categories sampled on the GAEL-S. The percentage correct scores of OA children were significantly higher than the manual and combined production scores of TC children in more than 50% of the grammatical categories. The manual scores of TC children significantly exceeded the scores of OA children in less than 20% of the categories. The gap between oral and manual production of the children in total communication programs indicates that spoken English did not develop simultaneously with manually coded English and that these children educated in programs using manually coded English did not develop competence with early developing English syntax at a rate faster than those not using signs.

Age Factors↗
PubMed2006

Serial Endosymbiotic Theory (set): the biosemiotic update.

The Serial Endosymbiotic Theory explains the origin of nucleated eukaryotic cells by a merging of archaebacterial and eubacterial cells. The paradigmatic change is that the driving force behind evolution is not ramification but merging. Lynn Margulis describes the symbiogenetic processes in the language of mechanistic biology in such terms as "merging", "fusion", and "incorporation". Biosemiotics argues that all cell-cell interactions are (rule-governed) sign-mediated interactions, i.e., communication processes. As the description of plant communication demonstrates, the biosemiotic approach is not limited to the level of molecular biology, but is also helpful in examining all sign-mediated interactions between organisms on the phenotypic level. If biosemiotics also uses the notions of "language" and "communication" to describe non-human sign-mediated interactions, then the underlying scientific justification of such usage should be critically considered. Therefore, I summarize the history of this discussion held between 1920 and 1980 and present its result, the pragmatic turn.

Animals↗
PubMed1997

Psychometric considerations when measuring cognitive decline in Alzheimer's disease.

Measuring cognitive decline is important for both clinical and basic research purposes, but to do so is a complicated methodologic and statistical exercise. Some promising predictive measures have been identified, such as baseline severity of disease, early language deterioration, other early behavioral disturbance and extrapyramidal signs. Nevertheless, investigations of demographic, cognitive and biologic variables have not consistently identified factors affecting differences in the course or rate of decline. Moreover, contradictory results using similar measures are common. Such contradictory results may be attributed, in part, to differences among samples, cognitive tests selected, research design, and methods of statistical analysis. Large samples of patients with dementia examined repeatedly for long time periods are needed. However, tests developed for initial screening, diagnosing and categorizing Alzheimer's disease are not necessarily the most appropriate for longitudinal studies of disease course. New instruments with a broader range of item difficulty, and less susceptibility to floor and ceiling effects must be developed. Also, standardized ways of defining cognitive decline are needed which are more sophisticated than simple change scores. Standardization will improve the ability to compare investigations and perhaps reconcile apparent differences in results.

Alzheimer Disease↗
PubMed2005

Validation of Spanish version of Pelvic Pain and Urgency/Frequency (PUF) patient symptom scale.

OBJECTIVES: To translate the previously described Pelvic Pain and Urgency/Frequency (PUF) questionnaire into Spanish using a back-translation technique and to validate the Spanish version in a group of bilingual women with symptoms consistent with interstitial cystitis or painful bladder syndrome. METHODS: Bilingual women with complaints of urinary urgency/frequency and/or pelvic pain were randomized to complete initially either the Spanish version or the original English version of the PUF questionnaire followed by the questionnaire in the other language. To evaluate retest reliability, subjects completed the Spanish version a second time 1 week later. Demographic information, including age, ethnic origin, and primary language, was obtained. Paired t tests and Wilcoxon signed rank tests for total PUF score, its two domain scores, and each item were used to assess the difference between the Spanish and English versions. Test and retest reliability of the Spanish version was similarly assessed. Agreement between the Spanish and English versions was assessed by weighted kappa statistics and 95% confidence intervals for each item. P values less than 0.05 were considered significant, and kappa values greater than 0.7 were considered to indicate good agreement. RESULTS: No statistically significant difference was found in the mean or median scores (ie, item, symptom, bother, total) between the English and Spanish versions. Good agreement between English and Spanish versions in all eight items was demonstrated by weighted kappa statistics. The Spanish version demonstrated retest reliability among total scores and seven of eight items when administered 1 week later. CONCLUSIONS: The Spanish PUF questionnaire is a valid and reliable instrument for the evaluation and treatment of patients with interstitial cystitis or painful bladder syndrome.

Adult↗
PubMed1989

Cerebral lateralization of language in deaf and hearing people.

In Experiment 1 neither hearing nor prelingually deaf signing adolescents showed marked lateralization for lexical decision but, unlike the hearing, the deaf were not impaired by the introduction of pseudohomophones. In Experiment 2 semantic categorization produced a left hemisphere advantage in the hearing for words but not pictures whereas in the deaf words and signs but not pictures showed a right hemisphere advantage. In Experiment 3 the lexical decision and semantic categorization findings were confirmed and both groups showed a right hemisphere advantage for a face/nonface decision task. The possible effect of initial language acquisition on the development of hemispheric lateralization for language is discussed.

Adolescent↗
PubMed1989

[Principle symptoms of delayed language development and behavioral disorders. 2 case studies on the topic of fragile X syndrome].

Case reports of two boys (5 1/2 and 3 1/2 years old) with fragile X syndrome are presented. In both cases, the typical somatic signs were absent. On the other hand, the psychopathology, with delayed language development and behaviour problems (especially hyperactivity and autistic behavior), provided the indication for a chromosome analysis. Fragile X syndrome was diagnosed in both cases, but in case 2 two subsequent controls were negative. The conclusions are that a diagnosis of fragile X syndrome must be viewed with skepticism until it has been confirmed by a second chromosome analysis in another experienced laboratory and/or with a different laboratory method. In spite of the genetic etiology (case 1), a marked improvement in the symptoms was possible with an intensive remedial program. Hence the fragile X chromosome appears to predispose to certain psychopathological changes, and these changes are apparently strongly influenced by psychosocial factors. Awareness of the genetic diagnosis can have positive effects on a family's compliance concerning further therapeutic programs for the child.

Aggression↗
PubMed1985

Aphasia, apraxia and neurogenic stuttering as complications of metrizamide myelography (speech deficits following myelography).

Aphasia following metrizamide myelography has been reported infrequently. During a seven-month period, we examined two patients who developed Broca's aphasia, apraxia of speech, oral-buccal-facial apraxia and neurogenic stuttering after intrathecal metrizamide administration. In each case, focal neurologic deficits were accompanied by clinical, electroencephalographic and radiologic signs of generalized neurologic disease. Serial speech and language evaluations initially revealed severe deficits that were largely resolved by the third day post-myelography. Out-patient follow-up examinations demonstrated persistence of mild speech and language abnormalities in each case. Our findings suggest that metrizamide may cause longlasting neurologic dysfunction.

Aphasia↗