RESUMO
The aim of the study was to perform family-based association analysis of PRKCB1, CBLN1 and KCNMB4 gene polymorphisms and autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) and their biological parents. In transmission/disequilibrium test we observed that T-allele of the rs198198 polymorphism of the PRKCB1 gene was more often transmitted to affected children in the male subgroup (p = 0.010). Additionally, the T carrier state was significantly associated with hypotonia (p = 0.048). In the female subgroup, the T-allele carriers more often showed more mobile/vital behavior (p = 0.046). In conclusion, our study showed that the rs198198 of the PRKCB1 gene may be associated with ASD in men and with some features characteristic for the disorder.
Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Subunidades beta do Canal de Potássio Ativado por Cálcio de Condutância Alta/genética , Proteínas do Tecido Nervoso/genética , Proteína Quinase C beta/genética , Precursores de Proteínas/genética , Transtorno do Espectro Autista/genética , Transtorno Autístico/genética , Criança , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Humanos , Subunidades beta do Canal de Potássio Ativado por Cálcio de Condutância Alta/metabolismo , Masculino , Proteínas do Tecido Nervoso/metabolismo , Polônia , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND AND PURPOSE: Epilepsy is one of the most frequent neurological diseases. Social acceptance is very important for people with epilepsy and their relatives. The aim of the study was to assess public knowledge and attitudes towards epilepsy in Silesia. MATERIAL AND METHODS: We examined 419 people, inhabitants of Silesia, at the mean age of 34 ± 15 years. The study was performed using a questionnaire containing 15 questions evaluating knowledge about epilepsy and attitudes towards people with epilepsy. RESULTS: 43.2% of the respondents knew an epileptic person themselves. 44.7% had witnessed an epileptic seizure; 68.8% would help a person during an epileptic seizure, but most of them (73.4%) would do it incorrectly (by putting an object into the mouth to prevent biting the tongue). 94.5% of respondents had nothing against friendship with an epileptic person, but 12.1% suggested that children with epilepsy should attend special schools. 85.9% of all those examined said that people with epilepsy should inform others about their disease, 81.9% would mention the existence of an epileptic person in their family. 40.5% of respondents believe that people with epilepsy can do the same jobs as healthy people, 75.3% would employ an epileptic person themselves. CONCLUSIONS: The knowledge about epilepsy and first aid during epileptic seizure is still insufficient among inhabitants of Silesia. Most of the responders, especially better educated ones, declare acceptance and tolerance of people with epilepsy. More effort should be made to improve public knowledge of epilepsy by preparing wide-spread educational programmes.
