Study of polymorphisms in candidate genes in the population of ADHD children

The research of tbc way of participatioo of each Iransmitte ystem in pathology of ADHD cao be of belp. in tbe future, in tbe seleetion of the approprisle drug ss substances witb different mechanisms of functioniog are used to Ireat UlC byperklnctic syndrome. For our resear h the genes of dopominergic (DR02, DRD3 a DATl ). noradrenergic (OBH) and serotoninergic (5-HTT) systems were selected. ln these geoes I1 polymorphisms were analysed by molecular-genetic metbods based on sssociation slrategy "case-conlrol". Tbe presence of risk allcles was compared betweeo tbe sarople of 100 ADHD childreo BOd a coolrol group of 100 subjects, in whom tbc ADHD symptoms were excluded by Coooers' test. Tbc results of our research suggest tbc an association of thc gcnes witb ADI·ID. Specifically, after multiple testlng correction, sex correction, and power analysis, it could be coocJuded: I) tbe risk of ADHD is sigolficantJy lncreased in tbc presence oť one risk allele in genes DRD2 (7,5-fold), 5-HTT (2,7-fold) and DATl (l ,6-fold) 2) tbe risk of ADHD is significaotJy increased at homozygotes for risk alleles in genes DRD2 (54-fold), 5-HTT (6,7-fold) BOd DATl (6,6-fold) For polymorphisms G444A and Cl603T in DBH, which were detected by univariant analysis, baplotype artaIysis was performed and resultedln conclusion..

Study of polymorphisms in candidate genes in the population of ADHD children

Tato práce je zrunčřena na problematiku hyperkinetického syndromu, kter}' před tavuje závažný socialně-mediclnský problém. Postibuje 3-6% dětské populace a je klinicky charakterizován nepozornosti, impulzivitou a hyperaktivitou Je to onemocněni multifaktoriální a geneticky heterogenní. V současné době je mámo vice než 30 genů s možnou účastí na vzniku a vývoji onemocnění. Jednotlivé alely těchto genů mohou být v populaci relativně časté, protože nepředstavují klasické mutace, ale polymorfismy, které jsou pfíčinou arteficiáInJ aktivity produktu. Studjum jednotlivých transmiterových systémů, které jsou do patogeneze ADHD zapojeny a poznání vlivu genetického podkladu naj jich funkční změny může v budoucnosti pomoci p~i vo lbě vhodného psychofarmaka vzhledem k tomu, že v léčbě hyperkinetické poruchy se uplatňuji látky s fŮmým mechanismem účinku. Ke studiu byly proto vybrány geny systému dopaminergnmo (DR02, DR03 a DAT l), noradrenergnlho (DBH) a serotoninergnlbo (S-HTI) u nichž byla provedena molekulárně-genetická 8lllIlýza 11 polymorfismů se základní strategií založenou na asociačním studiu "případ-kontrola". Pfítornnost rizikových alel byla porovnána v souboru 100 dětí s ADHD a v kontrolní skupině 100 jedinců. u nichž byly ptiznaky ADHD vylou čeny testem Connersové. Výsledky našeho výzkumu svědčí pro asociaci...The research of tbc way of participatioo of each Iransmitte ystem in pathology of ADHD cao be of belp. in tbe future, in tbe seleetion of the approprisle drug ss substances witb different mechanisms of functioniog are used to Ireat UlC byperklnctic syndrome. For our resear h the genes of dopominergic (DR02, DRD3 a DATl ). noradrenergic (OBH) and serotoninergic (5-HTT) systems were selected. ln these geoes I1 polymorphisms were analysed by molecular-genetic metbods based on sssociation slrategy "case-conlrol". Tbe presence of risk allcles was compared betweeo tbe sarople of 100 ADHD childreo BOd a coolrol group of 100 subjects, in whom tbc ADHD symptoms were excluded by Coooers' test. Tbc results of our research suggest tbc an association of thc gcnes witb ADI·ID. Specifically, after multiple testlng correction, sex correction, and power analysis, it could be coocJuded: I) tbe risk of ADHD is sigolficantJy lncreased in tbc presence oť one risk allele in genes DRD2 (7,5-fold), 5-HTT (2,7-fold) and DATl (l ,6-fold) 2) tbe risk of ADHD is significaotJy increased at homozygotes for risk alleles in genes DRD2 (54-fold), 5-HTT (6,7-fold) BOd DATl (6,6-fold) For polymorphisms G444A and Cl603T in DBH, which were detected by univariant analysis, baplotype artaIysis was performed and resultedln conclusion...Department of Biology and Medical GeneticsÚstav biologie a lékařské genetiky2. lékařská fakultaSecond Faculty of Medicin

Extending perceptual assimilation model to L3 phonological acquisition

The scarcity of research on speech perception among multilingual speakers precludes a full understanding of phonological acquisition in the third language (L3). In this controlled case study, we investigate L3 phonological acquisition in the perceptual domain and test the predictions of Perceptual Assimilation Model- L2 (Best & Tyler, 2007) adopted for multilingual learners. We employed an AX discrimination task, testing categorical discrimination of Polish sibilants, and a cross-linguistic similarity task, testing perceptual distance between Polish, English and German vowels. We examined L3 Polish perception in 10 multilinguals (aged 14) with L1 German and L2 English who differed in terms of language status (heritage vs. non-heritage). Their perception tasks performance was analysed for accuracy and reaction time. The cross-linguistic similarity task demonstrated that multilinguals assimilate some L3 sounds to both L1 and L2 categories, with a preference for the latter. In the majority of cases multilinguals make a distinction between similar L1, L2 and L3 sounds. The AX results showed that even beginner L3 learners distinguish highly similar L3 sibilant pairs. Our data suggests that the PAM-L2 model could also be extended to L3 acquisition; however, beginner L3 learners seem more likely to perceive subtle acoustic differences in novel phonological contrast