1. Kita Y, Inagaki M. {{[Face recognition in patients with autism spectrum disorders]}}. {Brain Nerve}. 2012; 64(7): 821-30.
Abstract The present study aimed to review previous research conducted on face recognition in patients with autism spectrum disorders (ASD). Face recognition is a key question in the ASD research field because it can provide clues for elucidating the neural substrates responsible for the social impairment of these patients. Historically, behavioral studies have reported low performance and/or unique strategies of face recognition among ASD patients. However, the performance and strategy of ASD patients is comparable to those of the control group, depending on the experimental situation or developmental stage, suggesting that face recognition of ASD patients is not entirely impaired. Recent brain function studies, including event-related potential and functional magnetic resonance imaging studies, have investigated the cognitive process of face recognition in ASD patients, and revealed impaired function in the brain’s neural network comprising the fusiform gyrus and amygdala. This impaired function is potentially involved in the diminished preference for faces, and in the atypical development of face recognition, eliciting symptoms of unstable behavioral characteristics in these patients. Additionally, face recognition in ASD patients is examined from a different perspective, namely self-face recognition, and facial emotion recognition. While the former topic is intimately linked to basic social abilities such as self-other discrimination, the latter is closely associated with mentalizing. Further research on face recognition in ASD patients should investigate the connection between behavioral and neurological specifics in these patients, by considering developmental changes and the spectrum clinical condition of ASD.
2. McCabe A, Hillier A, Shapiro C. {{Brief Report: Structure of Personal Narratives of Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2012.
Young adults with High Functioning Autism and a matched comparison group told personal narratives using a standard conversational procedure. Longest narratives were determined (i.e., number of propositions included) and scored using an analysis that looks at the organization of a narrative around a highpoint. The group with Autism Spectrum Disorder produced narratives with significantly poorer HP macrostructure and introduced proportionately fewer propositions with conjunctions. Such impairments in the ability to make sense of personal experiences both reflect and contribute to difficulty in social-emotional functioning.
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3. Reed P, Osborne LA. {{The Role of Parenting Stress in Discrepancies Between Parent and Teacher Ratings of Behavior Problems in Young Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2012.
The study assessed whether teacher and parent ratings of child behavior problems were similar for children with autism spectrum disorders. Two informants rated child behaviors in the same home environment, and the degree to which parenting stress impacted the similarity of the ratings was assessed. Overall behavior problem ratings did not differ between groups, but there was poor correspondence between the ratings for individual children, stress did not impact markedly on the discrepancies. Parent-teacher discrepancies in behavior ratings cannot be attributed entirely to differences in the assessment-environment, and there was little evidence of widespread impacts of parenting stress on these discrepant ratings. It was suggested that attention is needed in terms of the teacher characteristics when explaining such results.
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4. Riches NG, Loucas T, Baird G, Charman T, Simonoff E. {{Interpretation of compound nouns by adolescents with specific language impairment and autism spectrum disorders: An investigation of phenotypic overlap}}. {Int J Speech Lang Pathol}. 2012; 14(4): 307-17.
Abstract The study aimed to investigate (i) whether adolescents with Specific Language Impairment (SLI) and Autism plus Language Impairment (ALI) experience word-formation difficulties, and (ii) whether these two groups present with a similar language phenotype. The study investigated four groups using a 2 (language status) x2 (autism status) design; adolescents with SLI (n = 14), ALI (n = 16), Autism Language-Typical (ALT; n = 14), and language matched controls (n = 17), with all groups presenting with typical non-verbal skills. Mean age was 14;10. Comprehension of conventional Noun-Noun lexical compounds (e.g., snowman), synthetic compounds (SCs, e.g., cat chaser), and novel root compounds (RCs, e.g., sheep socks), was assessed using a forced-choice picture selection task. The SLI and ALI participants frequently mis-parsed the SCs, interpreting the first noun as the agent. Those with poorer vocabularies and non-word repetition had greater difficulties. Reaction time (RT) profiles were flatter in the ASD groups, with similar RTs across different compounds. Language difficulties in the SLI and ALI groups extend to word-formation processes; for example, comprehension of SCs. This may reflect difficulties making analogies with stored lexical items. Overall the results support the hypothesis of a phenotypic overlap between SLI and ALI.
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5. Tassone F, Choudhary NS, Durbin-Johnson B, Hansen R, Hertz-Picciotto I, Pessah I. {{Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study}}. {J Autism Dev Disord}. 2012.
Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (>200 repeats) in the 5’UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD.
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6. Tsai PT, Hull C, Chu Y, Greene-Colozzi E, Sadowski AR, Leech JM, Steinberg J, Crawley JN, Regehr WG, Sahin M. {{Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice}}. {Nature}. 2012.
Autism spectrum disorders (ASDs) are highly prevalent neurodevelopmental disorders, but the underlying pathogenesis remains poorly understood. Recent studies have implicated the cerebellum in these disorders, with post-mortem studies in ASD patients showing cerebellar Purkinje cell (PC) loss, and isolated cerebellar injury has been associated with a higher incidence of ASDs. However, the extent of cerebellar contribution to the pathogenesis of ASDs remains unclear. Tuberous sclerosis complex (TSC) is a genetic disorder with high rates of comorbid ASDs that result from mutation of either TSC1 or TSC2, whose protein products dimerize and negatively regulate mammalian target of rapamycin (mTOR) signalling. TSC is an intriguing model to investigate the cerebellar contribution to the underlying pathogenesis of ASDs, as recent studies in TSC patients demonstrate cerebellar pathology and correlate cerebellar pathology with increased ASD symptomatology. Functional imaging also shows that TSC patients with ASDs display hypermetabolism in deep cerebellar structures, compared to TSC patients without ASDs. However, the roles of Tsc1 and the sequelae of Tsc1 dysfunction in the cerebellum have not been investigated so far. Here we show that both heterozygous and homozygous loss of Tsc1 in mouse cerebellar PCs results in autistic-like behaviours, including abnormal social interaction, repetitive behaviour and vocalizations, in addition to decreased PC excitability. Treatment of mutant mice with the mTOR inhibitor, rapamycin, prevented the pathological and behavioural deficits. These findings demonstrate new roles for Tsc1 in PC function and define a molecular basis for a cerebellar contribution to cognitive disorders such as autism.
