1. Chiocchetti A, Klauck SM. {{[Genetic analyses for identifying molecular mechanisms in autism spectrum disorders.]}}. {Z Kinder Jugendpsychiatr Psychother};2011;39(2):101-111.
Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with marked deficits in social communication, verbal development, and behaviour. The broad phenotype and the clinical heterogeneity point to a polygenic disorder – despite high heritability among siblings. According to recent findings not only do single-rare mutations but also copy number variations and single nucleotide polymorphisms impact the ASD phenotype. Because of the scope of national and international consortia, many linkage and genome-wide association studies have evolved which elucidate candidate and susceptibility genomic regions and genes relevant for ASD. In contrast to polygenic or genetic complex models for autism, a few monogenetic forms of ASD are known to be caused by single gene defects, e.g., fragile-X syndrome. Knock-out animal models of monogenetic autism (e.g. FMRP(-/-)) or neurodegenerative disorders (e.g. MeCP2(-/-)) are often used to analyze the molecular mechanisms underlying ASD. In this review we describe the state of the art of genome analyses in ASD, the most widely used mouse models for polygenic or monogenetic forms of autism and discuss new insights gained from these analyses. The susceptibility genes so far identified seem to be involved in the proper establishment of the synaptic cleft, the secretion of surface proteins, or the overall cellular translation processes. Theses findings suggest that impacting translation-dependent processes like synaptic plasticity or cell-to-cell connectivity may lead to an ASD phenotype.
2. Dziobek I, Bolte S. {{[Neuropsychological models of autism spectrum disorders – behavioral evidence and functional imaging.]}}. {Z Kinder Jugendpsychiatr Psychother};2011;39(2):79-90.
Objective: To review neuropsychological models of theory of mind (ToM), executive functions (EF), and central coherence (CC) as framework for cognitive abnormalities in autism spectrum disorders (ASD). Methods: Behavioral and functional imaging studies are described that assess social-cognitive, emotional, and executive functions as well as locally oriented perception in ASD. Results: Impairments in ToM and EF as well as alterations in CC are frequently replicated phenomena in ASD. Especially problems concerning social perception and ToM have high explanatory value for clinical symptomatology. Brain activation patterns differ between individuals with and without ASD for ToM, EF, und CC functions. An approach focussing on reduced cortical connectivity seems to be increasingly favored over explanations focussing on single affected brain sites. Conclusions: A better understanding of the complexities of ASD in future research demands the integration of clinical, neuropsychological, functional imaging, and molecular genetics evidence. Weaknesses in ToM and EF as well as strengths in detail-focussed perception should be used for individual intervention planning.
3. Greimel E, Schulte-Ruther M, Kamp-Becker I, Remschmidt H, Herpertz-Dahlmann B, Konrad K. {{[Self-report and parental report of empathy in adolescents with autism.]}}. {Z Kinder Jugendpsychiatr Psychother};2011;39(2):113-121.
Objective: A deficit in empathy has repeatedly been described as a central feature of autistic disorders. However, little is known about how adolescents with autism evaluate their own empathic abilities, and how their parents judge these skills. The present study assesses affective components of empathy via both self-report and parental report. Method: 18 boys with autism and 18 typically developing boys participated in the study. A German translation of the Bryant Index of Empathy was used for the self-assessment of empathy. Parents rated the empathic abilities of their sons using a German version of the Griffith Empathy Measure. Both questionnaires are comparable with regards to content and mainly tap into affective components of empathy. Results: Self-reports of empathy in adolescents with autism did not differ from controls. In contrast, parents of adolescents with autism judged their sons to be less empathic compared to parents of typically developing adolescents. Conclusions: The discrepancy between unimpaired self-reported empathy and parental report of impaired empathy in adolescents with autism might result from their difficulties in effectively conveying empathic feelings to other people. Alternatively, the results may be explained by impaired introspection on inner experiences in individuals with autism.
4. Luyster RJ, Wagner JB, Vogel-Farley V, Tager-Flusberg H, Nelson Iii CA. {{Neural Correlates of Familiar and Unfamiliar Face Processing in Infants at Risk for Autism Spectrum Disorders}}. {Brain Topogr};2011 (Mar 26)
Examining the neural correlates associated with processing social stimuli offers a viable option to the challenge of studying early social processing in infants at risk for autism spectrum disorders (ASDs). The present investigation included 32 12-month olds at high risk for ASD and 24 low-risk control infants, defined on the basis of family history. Infants were presented with familiar and unfamiliar faces, and three components of interest were explored for amplitude and latency differences. The anticipated developmental effects of emerging hemispheric asymmetry for face-sensitive components (the N290 and P400) were observed, as were familiarity effects for a component related to attention (the Nc). Although there were no striking group differences in the neural response to faces, there was some evidence for a developmental lag in an attentional component for the high-risk group. The infant ASD endophenotype, though elusive, may be better defined through expanding the age of study and addressing change over time in response to varied stimuli.
5. Poustka L, Bender F, Bock M, Bolte S, Mohler E, Banaschewski T, Goth K. {{[Personality and social responsiveness in autism spectrum disorders and attention deficit/hyperactivity disorder.]}}. {Z Kinder Jugendpsychiatr Psychother};2011;39(2):133-141.
Objectives: This study addresses the question whether personality dimensions differ between children with autism spectrum disorders (ASD) and attention deficit/hyperactivity disorder (ADHD), and whether these personality characteristics influence social problems in these groups of children. Methods: 68 children with ADHD (n = 32) and ASD (n = 36) were assessed with the Junior Temperament and Character Inventory (JTCI 7-11 R) and the Social Responsiveness Scale (SRS), as rated by the parents. Diagnosis of ASD was confirmed with standardized diagnostic instruments (ADOS und ADI-R). Results: Both children with ASD and ADHD displayed significantly decreased scores in persistence, self-directedness and cooperativeness compared to normative values. Additionally, children with ASD showed extremely low reward dependence and differed significantly from children with ADHD in the temperament dimensions harm avoidance and reward dependence as well as in the character dimensions self-directedness and cooperativeness. In both groups, personality dimensions, especially reward dependence, were predictive of social responsiveness, as assessed by the SRS. Conclusion: The results suggest that specific personality characteristics are present already in young children with ASD and ADHD and may have an impact on their social competence.
6. Sinzig J, Lehmkuhl G. {{[Comorbidities with autism spectrum disorders – Present state of research and future outlook.]}}. {Z Kinder Jugendpsychiatr Psychother};2011;39(2):91-99.
Numerous somatic and psychopathological disorders occur parallel with autism spectrum disorders. It is presently being discussed whether other co-occurring psychopathological symptoms should constitute a categorical comorbid disorder on their own right and be diagnosed as such; or whether they should be understood as part of the autistic disorder itself. Based on the situation with attention deficit/hyperactivity disorder (ADHD), the current state of research and our own research results are used as examples to demonstrate which prerequisites must be fulfilled for a comorbid disorder. Furthermore, based on neurobiological findings from the areas of molecular biology, neuropsychology, and imaging we show which requirements emerge for the aetiology, early detection, pharmacological and psychotherapeutic treatment, course of illness, and the categorical classification approach.
7. Smith LM. {{« Lessons Learned from Autism: A Parent’s Perspective »}}. {Curr Probl Pediatr Adolesc Health Care};2011 (Apr);41(4):117-118.
8. Solomon M, Miller M, Taylor SL, Hinshaw SP, Carter CS. {{Autism Symptoms and Internalizing Psychopathology in Girls and Boys with Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Mar 26)
Findings regarding phenotypic differences between boys and girls with ASD are mixed. We compared autism and internalizing symptoms in a sample of 8-18 year-old girls (n = 20) and boys (n = 20) with ASD and typically developing (TYP) girls (n = 19) and boys (n = 17). Girls with ASD were more impaired than TYP girls but did not differ from boys with ASD in autism symptoms. In adolescence, girls with ASD had higher internalizing symptoms than boys with ASD and TYP girls, and higher symptoms of depression than TYP girls. Girls ages 8-18 with ASD resemble boys with ASD and not TYP girls, and appear to be at increased risk for affective symptoms in the teen years.
9. Vavolizza RD, Schmeidler J, Ramoz N, Buxbaum JD, Smith CJ, Silverman JM. {{The Effect of an Autism-Associated Polymorphism in the STK39 Gene on the Autism Symptom Domains}}. {J Autism Dev Disord};2011 (Mar 26)
