Inducible nitric oxide synthase haplotype associated with migraine and aura

Migraine is a complex neurological disorder with a clear neurogenic inflammatory component apparently including enhanced nitric oxide (NO) formation. Excessive NO amounts possibly contributing to migraine are derived from increased expression and activity of inducible NO synthase (iNOS). We tested the hypothesis that two functional, clinically relevant iNOS genetic polymorphisms (C-1026 A-rs2779249 and G2087A-rs2297518) are associated with migraine with or without aura. We studied 142 healthy women without migraine (control group) and 200 women with migraine divided into two groups: 148 with migraine without aura (MWA) and 52 with aura (MA). Genotypes were determined by real-time polymerase chain reaction using the Taqman (R) allele discrimination assays. The PHASE 2.1 software was used to estimate the haplotypes. The A allele for the G2087A polymorphism was more commonly found in the MA group than in the MWA group (28 vs. 18%; P < 0.05). No other significant differences in the alleles or genotypes distributions were found (P > 0.05). The haplotype combining both A alleles for the two polymorphisms was more commonly found in the MA group than in the control group or in the MWA group (19 vs. 10 or 8%; P = 0.0245 or 0.0027, respectively). Our findings indicate that the G2087A and the C-1026 A polymorphism in the iNOS gene affect the susceptibility to migraine with aura when their effects are combined within haplotypes, whereas the G2087A affects the susceptibility to aura in migraine patients. These finding may have therapeutic implications when examining the effects of selective iNOS inhibitors.

O conceito de morte e a Síndrome de Asperger

O conceito de morte é adquirido paralelamente ao desenvolvimento cognitivo e afetivo da criança, sendo descritos três estágios, paralelos aos estágios piagetianos. O objetivo deste trabalho foi verificar se o conceito de morte em portadores da síndrome de Asperger é similar ao observado em pessoas sem psicopatologia, ou se tem relação com o observado em portadores de deficiência intelectual leve. Para tanto, foram avaliados indivíduos com síndrome de Asperger, indivíduos com deficiência intelectual leve e indivíduos sadios, sem doenças mentais e/ou neurológicas, utilizando-se o Instrumento de Sondagem do Conceito de Morte elaborado por Wilma Torres. Os resultados apontam deficits na aquisição do conceito de morte por indivíduos com síndrome de Asperger, possivelmente relacionados aos deficits na teoria da mente, função executiva e fraca coerência central.

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder

Here, we describe a female patient with autism spectrum disorder and dysmorphic features that harbors a complex genetic alteration, involving a de novo balanced translocation t(2;X)(q11;q24), a 5q11 segmental trisomy and a maternally inherited isodisomy on chromosome 5. All the possibly damaging genetic effects of such alterations are discussed. In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered. (C) 2012 Wiley Periodicals, Inc.

Investigation of auditory processing disorder and language impairment using the speech-evoked auditory brainstem response

This study investigated whether there are differences in the Speech-Evoked Auditory Brainstem Response among children with Typical Development (TD), (Central) Auditory Processing Disorder (C) APD, and Language Impairment (LI). The speech-evoked Auditory Brainstem Response was tested in 57 children (ages 6-12). The children were placed into three groups: TD (n = 18), (C)APD (n = 18) and LI (n = 21). Speech-evoked ABR were elicited using the five-formant syllable/da/. Three dimensions were defined for analysis, including timing, harmonics, and pitch. A comparative analysis of the responses between the typical development children and children with (C)APD and LI revealed abnormal encoding of the speech acoustic features that are characteristics of speech perception in children with (C)APD and LI, although the two groups differed in their abnormalities. While the children with (C)APD might had a greater difficulty distinguishing stimuli based on timing cues, the children with LI had the additional difficulty of distinguishing speech harmonics, which are important to the identification of speech sounds. These data suggested that an inefficient representation of crucial components of speech sounds may contribute to the difficulties with language processing found in children with LI. Furthermore, these findings may indicate that the neural processes mediated by the auditory brainstem differ among children with auditory processing and speech-language disorders. (C) 2012 Elsevier B.V. All rights reserved.

Dicas de aprendizagem auxiliam as crianças com TDC na aquisição de uma habilidade motora complexa?

O objetivo do estudo foi analisar se as dicas de aprendizagem auxiliam crianças com TDC na aquisição de uma habilidade motora complexa. Dez crianças com TDC e 14 de desenvolvimento típico, de 9 a 11 anos, foram divididas nos grupos TDC com dicas (TDCD), TDC sem dicas (TDCS), desenvolvimento típico com dicas (GDTD) e desenvolvimento típico sem dicas (GDTS). As crianças participaram de sete aulas, durante três semanas, para a aprendizagem do rolamento peixe, com o uso das dicas "empurre o chão", "coloque a mão o mais longe possível" e "queixo no peito". Os resultados não foram estatisticamente significantes entre os grupos, o que evidencia que as dicas não apresentaram efeito positivo na aprendizagem do rolamento peixe.