RESUMO
History of the Williams syndrome (WS) represents a process of detailed analysis of phenotypic markers and of attempts to reveal their origin. This demanding tasks have brought many valuable findings, which were employed in different fields of medicine, namely in cardiology, metabolism, genetics, psychology and cognitive neurosciences. Discovery of the genetic basis of the disease closed the first period of the syndrome analysis. Genetic studies have been proceeding and WS can be taken as a model syndrome for the behavioral genes identification. Similarly the description of the pathogenesis of vascular anomalles represents the key for understanding of the pathogenesis of other, more common vascular diseases. The article brings the review of the history of the WS.
Assuntos
Síndrome de Williams/história , Estenose Aórtica Supravalvular/diagnóstico , Estenose Aórtica Supravalvular/história , História do Século XX , Humanos , Hipercalcemia/diagnóstico , Hipercalcemia/história , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/história , Síndrome de Williams/genéticaRESUMO
A case of a girl affected by Landau-Kleffner syndrome (acquired aphasia with convulsive disorder) is reported. The girl showed epileptic seizures and EEG abnormalities. At the age of 7 years 10 months they were followed by onset of aphasic symptoms accompanied with behavioural disturbances. By the age of 9 years she developed a severe verbal auditory agnosia and loss of spoken language expression, but was able to use reading and writing to communicate. This unusual dissociation suggests that spoken or written language can be affected selectively. The girl was followed up to the age of 14 years 6 months and her language recovered well by this age. (Fig. 2, Ref. 42.)
Assuntos
Síndrome de Landau-Kleffner , Criança , Eletroencefalografia , Feminino , Humanos , Síndrome de Landau-Kleffner/diagnóstico , Exame NeurológicoRESUMO
Thirty dyslexic and 30 control boys aged 7-11 years were compared for frequency of immune disorders and handedness as well as for family history of immune disorders and learning disabilities (dyslexia and stuttering). They were also compared for neurological status and for history of speech and language difficulties. There were no significant differences between the two groups in the frequency of immune disorders and in handedness. The results showed significantly more dyslexic boys with soft neurological signs and signs of speech and language disorders. The frequency of dyslexia was significantly higher in the relatives of the dyslexic boys. Also significantly more mothers of the dyslexic boys reported difficulties during pregnancy and complications at delivery. The results are discussed in terms of Geschwind's hypothesis and neuromaturational delay as possible determinants of developmental dyslexia.