1. Nishiyama T, Notohara M, Sumi S, Takami S, Kishino H. {{Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families}}. {J Hum Genet};2009 (Nov 6)
Results of twin studies have shown that autism spectrum disorders (ASDs) are attributable to complex multigenic interactions rather than to a single susceptibility gene. However, the growing number of distinct, individually rare genetic causes of ASDs, mostly copy number variations (CNVs), favors an alternative to the polygenic hypothesis, the two-component model, which suggests that ASDs are caused either by de novo mutation or by dominant inheritance from asymptomatic carriers of such a mutation. To verify this hypothesis, we estimated the distribution of ASD-risk among both catchment area-based families and multiplex families. Our results suggest that the models with more than three risk components are preferable to the two-component model. Our results also suggest that the largest proportion of ASD cases is caused by dominant inheritance. We additionally show that Supplementary information regarding prevalence has a crucial role in analyzing proband-ascertained data.Journal of Human Genetics advance online publication, 6 November 2009; doi:10.1038/jhg.2009.105.
2. Skokauskas N, Gallagher L. {{Psychosis, Affective Disorders and Anxiety in Autistic Spectrum Disorder: Prevalence and Nosological Considerations}}. {Psychopathology};2009 (Nov 6);43(1):8-16.
Background: This review aimed to find relevant published studies on the co-morbidity of autism and Asperger’s syndrome with psychotic, anxiety and/or mood disorders, assess them, synthesize the findings, present an overview and make recommendations for future research. Methods: Systematic literature searches were performed using several databases. Selected articles had to describe an original study that provided prevalence and/or incidence estimates on autism and/or Asperger’s syndrome co-morbidity with psychotic, anxiety and/or mood disorders. Results and Conclusion: There is conflicting evidence regarding the frequency of schizophrenia in this population. Depression appears to be common, although most individuals with autism do not have sufficient language skills to verbalize changes in mood. Anxiety disorders represent the most common psychiatric co-morbidity in this population.
3. Taurines R, Thome J, Duvigneau JC, Forbes-Robertson S, Yang L, Klampfl K, Romanos J, Muller S, Gerlach M, Mehler-Wex C. {{Expression analyses of the mitochondrial complex I 75-kDa subunit in early onset schizophrenia and autism spectrum disorder: increased levels as a potential biomarker for early onset schizophrenia}}. {Eur Child Adolesc Psychiatry};2009 (Nov 6)
Searching for a peripheral biological marker for schizophrenia, we previously reported on elevated mitochondrial complex I 75-kDa subunit mRNA-blood concentrations in early onset schizophrenia (EOS). The aim of this study was to further evaluate the utility of this gene as a potential marker for schizophrenia. Both-schizophrenia and autism-are suggested to be neuronal maldevelopmental disorders with reports of mitochondrial dysfunction and increased oxidative stress. Therefore we have investigated the expression levels of mitochondrial complex I 75-kDa subunit mRNA in whole blood of children with autistic spectrum disorder (ASD) and a group of adolescent acute first-episode EOS patients in comparison to matched controls. We have found that compared to the respective controls only the group of EOS patients-and not the ASD group-showed a significantly altered expression of the complex I 75-kDa subunit mRNA. Although further studies are necessary to test for the specificity of this marker, our findings point to the potential use of the mitochondrial complex I as a biomarker for schizophrenia.
4. Toal F, Daly EM, Page L, Deeley Q, Hallahan B, Bloemen O, Cutter WJ, Brammer MJ, Curran S, Robertson D, Murphy C, Murphy KC, Murphy DG. {{Clinical and anatomical heterogeneity in autistic spectrum disorder: a structural MRI study}}. {Psychol Med};2009 (Nov 6):1-11.
BACKGROUND: Autistic spectrum disorder (ASD) is characterized by stereotyped/obsessional behaviours and social and communicative deficits. However, there is significant variability in the clinical phenotype; for example, people with autism exhibit language delay whereas those with Asperger syndrome do not. It remains unclear whether localized differences in brain anatomy are associated with variation in the clinical phenotype.MethodWe used voxel-based morphometry (VBM) to investigate brain anatomy in adults with ASD. We included 65 adults diagnosed with ASD (39 with Asperger syndrome and 26 with autism) and 33 controls who did not differ significantly in age or gender. RESULTS: VBM revealed that subjects with ASD had a significant reduction in grey-matter volume of medial temporal, fusiform and cerebellar regions, and in white matter of the brainstem and cerebellar regions. Furthermore, within the subjects with ASD, brain anatomy varied with clinical phenotype. Those with autism demonstrated an increase in grey matter in frontal and temporal lobe regions that was not present in those with Asperger syndrome. CONCLUSIONS: Adults with ASD have significant differences from controls in the anatomy of brain regions implicated in behaviours characterizing the disorder, and this differs according to clinical subtype.
