1. {{The international meeting for autism research}}. {Autism Res}. 2011 Apr;4(2):162.
2. {{International society for autism research news}}. {Autism Res}. 2011 Apr;4(2):161.
3. Allen ML, Chambers A. {{Implicit and explicit understanding of ambiguous figures by adolescents with autism spectrum disorder}}. {Autism}. 2011 Apr 12.
Children with autism spectrum disorder (ASD) can process both interpretations of an ambiguous figure (e.g. rabbit/duck) when told about the ambiguity, however they tend not to do so spontaneously. Here we show that although adolescents with ASD can explicitly experience such ‘reversals’, implicit measures suggest they are conceptually processing the images differently from learning disabled peers. Participants copied the same ambiguous figures under different contextual conditions, both before and after reversal experience. Results suggest that adolescents with ASD are not influenced by contextual information when copying ambiguous drawings, since they produce similar pictures before and after reversal, compared with controls. This research has implications for how individuals with ASD understand multiple representations and supports the Enhanced Perceptual Functioning theory.
4. Allen ML, Haywood S, Rajendran G, Branigan H. {{Evidence for syntactic alignment in children with autism}}. {Dev Sci}. 2011 May;14(3):540-8.
We report an experiment that examined whether children with Autistic Spectrum Disorder (ASD) spontaneously converge, or align, syntactic structure with a conversational partner. Children with ASD were more likely to produce a passive structure to describe a picture after hearing their interlocutor use a passive structure to describe an unrelated picture when playing a card game. Furthermore, they converged syntactic structure with their interlocutor to the same extent as did both chronological and verbal age-matched controls. These results suggest that the linguistic impairment that is characteristic of children with ASD, and in particular their difficulty with interactive language usage, cannot be explained in terms of a general deficit in linguistic imitation.
5. Cukier HN, Salyakina D, Blankstein SF, Robinson JL, Sacharow S, Ma D, et al. {{Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21}}. {Am J Med Genet B Neuropsychiatr Genet}. 2011 Apr 7.
Copy number variations (CNVs) play a crucial role in the intricate genetics of autism spectrum disorders. A region on chromosome 15q24 vulnerable to both deletions and duplications has been previously implicated in a range of phenotypes including autism, Asperger’s syndrome, delayed development, and mild to severe mental retardation. Prior studies have delineated a minimal critical region of approximately 1.33 Mb. In this study, a multiplex autism family was evaluated for CNVs using genotyping data from the Illumina 1 M BeadChip and analyzed with the PennCNV algorithm. Variants were then identified that co-segregate with autism features in this family. Here, we report autistic first cousins who carry two microduplications concordant with disease. Both duplications were inherited maternally and found to be identical by descent. The first is an approximately 10,000 base pair microduplication within the minimal region on 15q24 that falls across a single gene, ubiquitin-like 7. This is the smallest duplication in the region to result in a neuropsychiatric disorder, potentially narrowing the critical region for susceptibility to developmental and autism spectrum disorders. The second is a novel, 352 kb tandem duplication on 7p21 that replicates part of the neurexophilin 1 and islet cell autoantigen 1 genes. The breakpoint junction falls within the intronic regions of these genes and demonstrates a microhomology of four base pairs. Each of these microduplications may contribute to the complex etiology of autism spectrum disorders. (c) 2011 Wiley-Liss, Inc.
6. Estes A, Shaw DW, Sparks BF, Friedman S, Giedd JN, Dawson G, et al. {{Basal ganglia morphometry and repetitive behavior in young children with autism spectrum disorder}}. {Autism Res}. 2011 Apr 7.
We investigated repetitive and stereotyped behavior (RSB) and its relationship to morphometric measures of the basal ganglia and thalami in 3- to 4-year-old children with autism spectrum disorder (ASD; n = 77) and developmental delay without autism (DD; n = 34). Children were assessed through clinical evaluation and parent report using RSB-specific scales extracted from the Autism Diagnostic Observation Schedule (ADOS), the Autism Diagnostic Interview, and the Aberrant Behavior Checklist. A subset of children with ASD (n = 45), DD (n = 14), and a group of children with typical development (TD; n = 25) were also assessed by magnetic resonance imaging. Children with ASD demonstrated elevated RSB across all measures compared to children with DD. Enlargement of the left and right striatum, more specifically the left and right putamen, and left caudate, was observed in the ASD compared to the TD group. However, nuclei were not significantly enlarged after controlling for cerebral volume. The DD group, in comparison to the ASD group, demonstrated smaller thalami and basal ganglia regions even when scaled for cerebral volume, with the exception of the left striatum, left putamen, and right putamen. Elevated RSB, as measured by the ADOS, was associated with decreased volumes in several brain regions: left thalamus, right globus pallidus, left and right putamen, right striatum and a trend for left globus pallidus and left striatum within the ASD group. These results confirm earlier reports that RSB is common early in the clinical course of ASD and, furthermore, demonstrate that such behaviors may be associated with decreased volumes of the basal ganglia and thalamus. Autism Res 2011,4:xxx-xxx. (c) 2011 International Society for Autism Research, Wiley Periodicals, Inc.
7. Faja S, Webb SJ, Jones E, Merkle K, Kamara D, Bavaro J, et al. {{The Effects of Face Expertise Training on the Behavioral Performance and Brain Activity of Adults with High Functioning Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2011 Apr 12.
The effect of expertise training with faces was studied in adults with ASD who showed initial impairment in face recognition. Participants were randomly assigned to a computerized training program involving either faces or houses. Pre- and post-testing included standardized and experimental measures of behavior and event-related brain potentials (ERPs), as well as interviews after training. After training, all participants met behavioral criteria for expertise with the specific stimuli on which they received training. Scores on standardized measures improved after training for both groups, but only the face training group showed an increased face inversion effect behaviorally and electrophysiological changes to faces in the P100 component. These findings suggest that individuals with ASD can gain expertise in face processing through training.
8. Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, et al. {{SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function}}. {Hum Mol Genet}. 2011 Apr 12.
Several genes predisposing to autism spectrum disorders (ASDs) with or without epilepsy have been identified, many of which are implicated in synaptic function. Here we report a Q555X mutation in synapsin 1 (SYN1), an X-linked gene encoding for a neuron-specific phosphoprotein implicated in the regulation of neurotransmitter release and synaptogenesis. This nonsense mutation was found in all affected individuals from a large French-Canadian family segregating epilepsy and ASDs. Additional mutations in SYN1 (A51G, A550T and T567A) were found in 1.0 and 3.5% of French-Canadian individuals with autism and epilepsy, respectively. The majority of these SYN1 mutations were clustered in the proline-rich D-domain which is substrate of multiple protein kinases. When expressed in synapsin I (SynI) knockout (KO) neurons, all the D-domain mutants failed in rescuing the impairment in the size and trafficking of synaptic vesicle pools, whereas the wild-type human SynI fully reverted the KO phenotype. Moreover, the nonsense Q555X mutation had a dramatic impact on phosphorylation by MAPK/Erk and neurite outgrowth, whereas the missense A550T and T567A mutants displayed impaired targeting to nerve terminals. These results demonstrate that SYN1 is a novel predisposing gene to ASDs, in addition to epilepsy, and strengthen the hypothesis that a disturbance of synaptic homeostasis underlies the pathogenesis of both diseases.
9. Hutchins TL, Prelock PA, Bonazinga L. {{Psychometric Evaluation of the Theory of Mind Inventory (ToMI): A Study of Typically Developing Children and Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2011 Apr 12.
Two studies examined the psychometric properties of the Theory of Mind Inventory (ToMI). In Study One, 135 caregivers completed the ToMI for children (ages 3 through 17) with autism spectrum disorder (ASD). Findings revealed excellent test-retest reliability and internal consistency. Principle Components Analysis revealed three subscales related to the complexity of ToM understanding. In Study Two, data were collected for 124 typically developing children (2 through 12 years). Findings again revealed excellent test-retest and internal consistency. The ToMI distinguished groups by age (younger vs. older children) and developmental status (typically developing vs. ASD), and predicted child performance on a ToM task battery. Utility of the ToMI, study limitations and directions for future research are discussed.
10. Ingersoll B, Meyer K, Becker MW. {{Increased rates of depressed mood in mothers of children with ASD associated with the presence of the broader autism phenotype}}. {Autism Res}. 2011 Apr;4(2):143-8.
This study examined the relationship between the broader autism phenotype (BAP) and depressed mood in mothers of children with and without autism spectrum disorders (ASD). One hundred and sixty-five mothers (71 with an ASD child and 94 with a non-ASD child) completed a survey of child autism severity (ASD mothers only), parenting stress, BAP, and depression. Mothers of children with ASD reported greater depressed mood, higher parenting stress, and more characteristics associated with the BAP than mothers of children without ASD. For mothers of children with ASD, the BAP uniquely predicted number of depressive symptoms after controlling for child autism severity and parenting stress. In the full sample, the relationship between group status and depressed mood was no longer significant after controlling for parenting stress and maternal BAP. These findings suggest that the higher rate of depression found in mothers of children with ASD may be attributed both to the increased stress of raising a child with ASD, as well as a greater number of autistic features in the mothers that may place them at higher risk for developing depression. Autism Res 2011, 4: 143-148. (c) 2010, International Society for Autism Research, Wiley Periodicals, Inc.
11. Leonard H, Glasson E, Nassar N, Whitehouse A, Bebbington A, Bourke J, et al. {{Autism and intellectual disability are differentially related to sociodemographic background at birth}}. {PLoS One}. 2011;6(3):e17875.
BACKGROUND: Research findings investigating the sociodemographics of autism spectrum disorder (ASD) have been inconsistent and rarely considered the presence of intellectual disability (ID). METHODS: We used population data on Western Australian singletons born from 1984 to 1999 (n = 398,353) to examine the sociodemographic characteristics of children diagnosed with ASD with or without ID, or ID without ASD compared with non-affected children. RESULTS: The profiles for the four categories examined, mild-moderate ID, severe ID, ASD without ID and ASD with ID varied considerably and we often identified a gradient effect where the risk factors for mild-moderate ID and ASD without ID were at opposite extremes while those for ASD with ID were intermediary. This was demonstrated clearly with increased odds of ASD without ID amongst older mothers aged 35 years and over (odds ratio (OR) = 1.69 [CI: 1.18, 2.43]), first born infants (OR = 2.78; [CI: 1.67, 4.54]), male infants (OR = 6.57 [CI: 4.87, 8.87]) and increasing socioeconomic advantage. In contrast, mild-moderate ID was associated with younger mothers aged less than 20 years (OR = 1.88 [CI: 1.57, 2.25]), paternal age greater than 40 years (OR = 1.59 [CI: 1.36, 1.86]), Australian-born and Aboriginal mothers (OR = 1.60 [CI: 1.41, 1.82]), increasing birth order and increasing social disadvantage (OR = 2.56 [CI: 2.27, 2.97]). Mothers of infants residing in regional or remote areas had consistently lower risk of ASD or ID and may be linked to reduced access to services or under-ascertainment rather than a protective effect of location. CONCLUSIONS: The different risk profiles observed between groups may be related to aetiological differences or ascertainment factors or both. Untangling these pathways is challenging but an urgent public health priority in view of the supposed autism epidemic.
12. Nemeth D, Janacsek K. {{Are children with autism good or bad learners?}}. {Proc Natl Acad Sci U S A}. 2011 Apr 12;108(15):E57.
13. Nobile M, Perego P, Piccinini L, Mani E, Rossi A, Bellina M, et al. {{Further evidence of complex motor dysfunction in drug naive children with autism using automatic motion analysis of gait}}. {Autism}. 2011 Apr 8.
In order to increase the knowledge of locomotor disturbances in children with autism, and of the mechanism underlying them, the objective of this exploratory study was to reliably and quantitatively evaluate linear gait parameters (spatio-temporal and kinematic parameters), upper body kinematic parameters, walk orientation and smoothness using an automatic motion analyser (ELITE systems) in drug naive children with Autistic Disorder (AD) and healthy controls. The children with AD showed a stiffer gait in which the usual fluidity of walking was lost, trunk postural abnormalities, highly significant difficulties to maintain a straight line and a marked loss of smoothness (increase of jerk index), compared to the healthy controls. As a whole, these data suggest a complex motor dysfunction involving both the cortical and the subcortical area or, maybe, a possible deficit in the integration of sensory-motor information within motor networks (i.e., anomalous connections within the fronto-cerebello-thalamo-frontal network). Although the underlying neural structures involved remain to be better defined, these data may contribute to highlighting the central role of motor impairment in autism and suggest the usefulness of taking into account motor difficulties when developing new diagnostic and rehabilitation programs.
14. Pitskel NB, Bolling DZ, Hudac CM, Lantz SD, Minshew NJ, Vander Wyk BC, et al. {{Brain Mechanisms for Processing Direct and Averted Gaze in Individuals with Autism}}. {J Autism Dev Disord}. 2011 Apr 12.
Prior studies have indicated brain abnormalities underlying social processing in autism, but no fMRI study has specifically addressed the differential processing of direct and averted gaze, a critical social cue. Fifteen adolescents and adults with autism and 14 typically developing comparison participants viewed dynamic virtual-reality videos depicting a simple but realistic social scenario, in which an approaching male figure maintained either direct or averted gaze. Significant group by condition interactions reflecting differential responses to direct versus averted gaze in people with autism relative to typically developing individuals were identified in the right temporoparietal junction, right anterior insula, left lateral occipital cortex, and left dorsolateral prefrontal cortex. Our results provide initial evidence regarding brain mechanisms underlying the processing of gaze direction during simple social encounters, providing new insight into the social deficits in individuals with autism.
15. Pring L, Ryder N, Crane L, Hermelin B. {{Creativity in Savant Artists With Autism}}. {Autism}. 2011 Apr 12.
Individuals with autism spectrum disorder (ASD) often display impairments in creativity, yet savant artists with ASD are reported to produce highly novel and original artistic outputs. To explore this paradox, we assessed nine savant artists with ASD, nine talented art students, nine non-artistically talented individuals with ASD, and nine individuals with mild/moderate learning difficulties (MLD) on tasks in and out of their domain of expertise. This was to ascertain whether the performance of the savant artists was related to their artistic ability, their diagnosis of ASD or their level of intellectual functioning. Results demonstrated that the responses of the art students were more creative (as assessed on measures of fluency, originality, elaboration, and flexibility) than the savant, ASD, and MLD groups on a drawing task. Although the savants did produce more elaborative responses than the ASD and MLD groups, no differences were observed on the other indices of creativity. On a non-drawing task, the savants produced more original outputs than the ASD and MLD groups (scoring similarly to the art students), but group differences were not observed on the other measures.
16. Sivertsen B, Posserud MB, Gillberg C, Lundervold AJ, Hysing M. {{Sleep Problems in Children With Autism Spectrum Problems: A Longitudinal Population-Based Study}}. {Autism}. 2011 Apr 8.
This study examined the prevalence and chronicity of sleep problems in children who manifest problems believed to be typical of Autism Spectrum Disorders (ASD). Using data from a longitudinal total population study, symptoms of ASD, insomnia and potential explanatory factors were assessed at ages 7-9 and 11-13. Children were included in a group defined as having Autism Spectrum Problems (ASP) if they scored above a strict threshold on the Autism Spectrum Screening Questionnaire (ASSQ). Twenty-eight (0.8%) of 3700 children fulfilled the selected criteria for ASP at both waves, and the prevalence of chronic insomnia was more than ten times higher in these children compared to the controls. Children with ASP developed more sleep problems over time, with an incidence rate at wave 2 of 37.5% compared to 8.6% in the controls. The sleep problems were more persistent over time, with a remission rate of 8.3% compared to 52.4% in the controls. ASP was a strong predictor of sleep problems at wave 2 (OR = 12.44), and while emotional and behavioural problems explained a large proportion of this association, the effect of ASP on insomnia remained significant in the fully adjusted model (OR = 3.25). These findings call for increased awareness of sleep problems in children with ASP.
17. Sokol DK, Maloney B, Long JM, Ray B, Lahiri DK. {{Autism, Alzheimer disease, and fragile X: APP, FMRP, and mGluR5 are molecular links}}. {Neurology}. 2011 Apr 12;76(15):1344-52.
The present review highlights an association between autism, Alzheimer disease (AD), and fragile X syndrome (FXS). We propose a conceptual framework involving the amyloid-beta peptide (Abeta), Abeta precursor protein (APP), and fragile X mental retardation protein (FMRP) based on experimental evidence. The anabolic (growth-promoting) effect of the secreted alpha form of the amyloid-beta precursor protein (sAPPalpha) may contribute to the state of brain overgrowth implicated in autism and FXS. Our previous report demonstrated that higher plasma sAPPalpha levels associate with more severe symptoms of autism, including aggression. This molecular effect could contribute to intellectual disability due to repression of cell-cell adhesion, promotion of dense, long, thin dendritic spines, and the potential for disorganized brain structure as a result of disrupted neurogenesis and migration. At the molecular level, APP and FMRP are linked via the metabotropic glutamate receptor 5 (mGluR5). Specifically, mGluR5 activation releases FMRP repression of APP mRNA translation and stimulates sAPP secretion. The relatively lower sAPPalpha level in AD may contribute to AD symptoms that significantly contrast with those of FXS and autism. Low sAPPalpha and production of insoluble Abeta would favor a degenerative process, with the brain atrophy seen in AD. Treatment with mGluR antagonists may help repress APP mRNA translation and reduce secretion of sAPP in FXS and perhaps autism.
18. Stahmer AC, Akshoomoff N, Cunningham AB. {{Inclusion for toddlers with autism spectrum disorders: The first ten years of a community program}}. {Autism}. 2011 Apr 12.
The present quasi-experimental study examines the outcomes for a group of 102 children diagnosed with an autism spectrum disorder at age 2 who attended an inclusive toddler program (described by Stahmer and Ingersoll, 2004) until age 3. Outcomes on standardized developmental assessments indicate significant improvement, with large effect sizes, in developmental level, adaptive behavior and communication. Thirty-one of the children (31%) were functioning in the typically developing range when they exited the program at age 3, after an average of 8 months of intervention. Predictors of positive outcomes included length of time in the program, level of words and gestures use at entry and higher externalizing and lower internalizing behavior CBCL scores at entry. Implications for serving toddlers with autism in inclusive settings and suggestions for future research directions are discussed.
19. Umeda C, Deitz J. {{Effects of therapy cushions on classroom behaviors of children with autism spectrum disorder}}. {Am J Occup Ther}. 2011 Mar-Apr;65(2):152-9.
OBJECTIVE: We investigated the effects of therapy cushions on the in-seat and on-task behaviors of 2 kindergarten students with autism spectrum disorder during math activities. METHOD: We used a single-subject A-B-A-B-C design across 2 male participants who used chairs during baseline phases (A) and cushions during intervention phases (B). We included a choice phase (C) to determine participant seating preferences. Social validity was addressed by assessing teacher and participant seating preferences. Data were graphed and visually analyzed for functionally relevant changes between phases. RESULTS: No clinically relevant changes in the in-seat or on-task behaviors of either participant were observed with cushion use. CONCLUSION. Therapy cushions may not impose sufficient postural demands or provide adequate sensory input to produce behavioral changes. Continued research in this area is needed.
20. White SJ, Coniston D, Rogers R, Frith U. {{Developing the Frith-Happe animations: A quick and objective test of Theory of Mind for adults with autism}}. {Autism Res}. 2011 Apr;4(2):149-54.
It is now widely accepted that individuals with autism have a Theory of Mind (ToM) or mentalizing deficit. This has traditionally been assessed with false-belief tasks and, more recently, with silent geometric animations, an on-line ToM task. In adults with milder forms of autism standard false-belief tests, originally devised for children, often prove insensitive, while the Frith-Happe animations have had rather better success at capturing the on-line ToM deficit in this population. However, analysis of participants’ verbal descriptions of these animations, which span scenarios from « Random » to « Goal-Directed » and « ToM, » is time consuming and subjective. In this study, we developed and established the feasibility of an objective method of response through a series of multiple-choice questions. Sixteen adults with autism and 15 typically developing adults took part, matched for age and intelligence. The adults with autism were less accurate as a group at categorizing the Frith-Happe animations by the presence or absence of mental and physical interactions. Furthermore, they were less able to select the correct emotions that are typically attributed to the triangles in the mental state animations. This new objective method for assessing the understanding of the animations succeeded in being as sensitive as the original subjective method in detecting the mentalizing difficulties in autism, as well as being quicker and easier to administer and analyze. Autism Res 2011, 4: 149-154. (c) 2011, International Society for Autism Research, Wiley Periodicals, Inc.
