Pubmed du 4/07/09

lundi 6 juillet 2009

1. Barnes JL, Lombardo MV, Wheelwright S, Baron-Cohen S. Moral Dilemmas Film Task : a study of spontaneous narratives by individuals with autism spectrum conditions. Autism Res ;2009 (Jul 2)

People with autism spectrum conditions (ASC) have difficulties with mentalizing, empathy, and narrative comprehension. A new test of social and narrative cognition, the Moral Dilemmas Film Task, was developed to probe individuals’ spontaneous understanding of naturalistic film scenes. Twenty-eight individuals with ASC and 28 neurotypical controls, matched for age, sex, and IQ, watched four short emotionally charged film clips each depicting a moral dilemma, and were asked to write about what they had seen. Individuals with ASC produced significantly shorter film-based narratives and showed a smaller bias for mental states over objects in their narratives than controls. A significant correlation was found between verbal IQ and the level of mentalizing in film narratives for the ASC group, but not the control group, while the reverse pattern was found with a measure of self-reported cognitive and affective empathy. These results suggest that to the extent that both groups succeed in viewing moral dilemmas in terms of mental content, they do so in different ways, with individuals with ASC using verbal scaffolding to increase their ability to draw meaning from social scenes. The well-established empathy deficit in ASC extends to spontaneous interpretation of moral dilemmas. This new film task has the potential to assay different aspects of how the social world is represented differently in ASC, including during moral comprehension.

2. Dichter GS, Felder JN, Bodfish JW. Autism is characterized by dorsal anterior cingulate hyperactivation during social target detection. Soc Cogn Affect Neurosci ;2009 (Jul 2)

Though the functional neural correlates of impaired cognitive control and social dysfunction in autism spectrum disorders (ASD) have been delineated, brain regions implicated in poor cognitive control of social information is a novel area of autism research. We recently reported in a non-clinical sample that detection of ’social oddball’ targets activated a portion of the dorsal anterior cingulate gyrus and the supracalcarine cortex (Dichter, Felder, Bodfish, Sikich, and Belger, 2009). In the present investigation, we report functional magnetic resonance imaging results from individuals with ASD who completed the same social oddball task. Between-group comparisons revealed generally greater activation in the ASD group to both social and non-social targets. When responses to social and non-social targets were contrasted, the ASD group showed relatively greater activation in the right and middle inferior frontal gyri and a region in dorsomedial prefrontal cortex that abuts the dorsal anterior cingulate (Brodmann’s Area 32). Further, dorsal anterior cingulate activation to social targets predicted the severity of social impairments in a subset of the ASD sample. These data suggest that the dorsal anterior cingulate mediates social target detection in neurotypical individuals and is implicated in deficits of cognitive control of social information in ASD.

3. Li MR, Pan H, Bao XH, Zhu XW, Cao GN, Zhang YZ, Wu XR. [Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome.]. Zhonghua Er Ke Za Zhi ;2009 (Feb) ;47(2):124-128.

OBJECTIVE : Rett syndrome (RTT) is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. The aim of this study was to investigate the correlation between MECP2 genotype and phenotype and thereby not only to provide assistance for clinical care, but also facilitate clinical genetic counseling. METHOD : Individual phenotype characteristic and clinical severity of 126 children with RTT diagnosed by molecular genetic methods were evaluated by using scales of Kerr et al and Scala et al. Statistical package SPSS 12.0 was used for analyses of data. Since the majority of the data were not normally distributed, non-parametric tests were used. The Kruskal-Wallis test/Wilcoxon Mann-Whitney test was employed to compare total severity phenotype scores. The Fisher exact test was used for comparing rates. Statistical significance was set at P < 0.05. RESULT : There were no significant differences in the average overall scores for RTT patients with mutations in the region of methyl-CpG-binding domain (MBD) compared with those mutations in the transcription repression domain (TRD) and C terminal segment (CTS), also patients with nonsense mutations compared with missense mutations, frameshift mutations and large deletions (P > 0.05). The RTT patients with nonsense mutations located in the region of MBD have more severe phenotype than those with missense mutations in the same region (P = 0.016). Among p.T158M, p.R168X, c.806delG and p.R255X, there were no significant differences in the average overall scores (P > 0.05), but there were significant differences in language skill (P = 0.028) and in language impairment rate at different level (P = 0.019). CONCLUSION : There are relationships between MECP2 genotype and phenotype:the RTT patients with nonsense mutations located in MBD tend to develop more severe phenotype ;there are significant differences in language skill and language impairment rate in the groups with p.T158M, p.R168X, c.806del and p.R255X, which had higher frequency in children below five-years of age and the p.R168X present with most severe impairment.


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