1. Dionne M, Martini R. {{Floor time play with a child with autism: a single-subject study}}. {Can J Occup Ther};2011 (Jun);78(3):196-203.
BACKGROUND: Children with autism exhibit difficulties with social interaction and communication skills, and they present with restricted interests and stereotyped patterns of behaviour that affect their daily lives. Floor time play (FTP) is an intervention approach that addresses these issues; however, there are few published studies on its effectiveness. PURPOSE: This study determines the effectiveness of FTP intervention with a child diagnosed with autism. METHODS: A single subject AB design was used with circles of communication as the behaviour indicator for improvement. Visual and statistical analyses were completed. The child’s mother kept a daily journal describing FTP intervention sessions at home. FINDINGS: Despite variability in the data, statistical analyses indicate a significant difference between the numbers of circles of communication during the intervention phase as compared with the observation phase. Implications. This study provides preliminary evidence for the use of the FTP approach with a child with autism.
2. Liu XQ, Georgiades S, Duku E, Thompson A, Devlin B, Cook EH, Wijsman EM, Paterson AD, Szatmari P. {{Identification of genetic Loci underlying the phenotypic constructs of autism spectrum disorders}}. {J Am Acad Child Adolesc Psychiatry};2011 (Jul);50(7):687-696 e613.
OBJECTIVE: To investigate the underlying phenotypic constructs in autism spectrum disorders (ASD) and to identify genetic loci that are linked to these empirically derived factors. METHOD: Exploratory factor analysis was applied to two datasets with 28 selected Autism Diagnostic Interview-Revised (ADI-R) algorithm items. The first dataset was from the Autism Genome Project (AGP) phase I (1,236 ASD subjects from 618 families); the second was from the AGP phase II (804 unrelated ASD subjects). Variables derived from the factor analysis were then used as quantitative traits in genome-wide variance components linkage analyses. RESULTS: Six factors, namely, joint attention, social interaction and communication, nonverbal communication, repetitive sensory-motor behavior, peer interaction, and compulsion/restricted interests, were retained for both datasets. There was good agreement between the factor loading patterns from the two datasets. All factors showed familial aggregation. Suggestive evidence for linkage was obtained for the joint attention factor on 11q23. Genome-wide significant evidence for linkage was obtained for the repetitive sensory-motor behavior factor on 19q13.3. CONCLUSIONS: This study demonstrates that the underlying phenotypic constructs based on the ADI-R algorithm items are replicable in independent datasets, and that the empirically derived factors are suitable and informative in genetic studies of ASD.
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3. Matson JL, Sipes M, Fodstad JC, Fitzgerald ME. {{Issues in the management of challenging behaviours of adults with autism spectrum disorder}}. {CNS Drugs};2011 (Jul 1);25(7):597-606.
Autism spectrum disorder (ASD) is a particularly important risk factor for challenging behaviours such as aggression, tantrums, self-injury and pica. Adults with ASD have rarely been studied with respect to these problems. This is particularly disconcerting since there are far more adults than children with ASD. In addition, because of adults’ increased physical size and longer history of these problems, treating these behaviours effectively is important. Psychological methods, particularly applied behaviour analysis, and pharmacotherapy have been the most frequently addressed treatments for challenging behaviours associated with ASD in the research literature. In many cases, challenging behaviours have clear environmental antecedents. In these cases, behavioural interventions, such as applied behaviour analysis, should be used to reduce the behaviours. When environmental factors cannot be identified or when challenging behaviours are very severe, pharmacological treatments may be necessary in combination with behavioural interventions. Newer antipsychotics are the most researched medications for use with this population. Currently, risperidone and aripiprazole are the only medications that have US FDA approval for the treatment of behaviours associated with ASD, specifically irritability; however, they are indicated for use in children not adults. It is important not to use medications unnecessarily, due to possible side effects associated with their use. Based on available research, some recommendations for the treatment of challenging behaviours of adults (and children) with ASD include the use of functional assessment, side-effect monitoring of medications and behavioural methods whenever possible. Additionally, future research in this area needs to focus more on adults, as most current research has used child samples.
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4. Nakano T, Kato N, Kitazawa S. {{Lack of eyeblink entrainments in autism spectrum disorders}}. {Neuropsychologia};2011 (Jun 12)
Interpersonal synchrony is the temporal coordination of movements between individuals during social interactions. For example, it has been shown that listeners synchronize their eyeblinks to a speaker’s eyeblinks, especially at breakpoints of speech, when viewing a close-up video clip of the speaker’s face. We hypothesized that this interpersonal synchronous behavior would not be observed in individuals with autism spectrum disorders (ASD), which are characterized by impaired social communication. To test this hypothesis, we examined eyeblink entrainments in adults with ASD. As we reported previously, the eyeblinks of adults without ASD were significantly synchronized with the speaker’s eyeblinks at pauses in his speech when they viewed the speaker’s entire face. However, the significant eyeblink synchronization disappeared when adults without ASD viewed only the speaker’s eyes or mouth, suggesting that information from the whole face, including information from both the eyes and the mouth, was necessary for eyeblink entrainment. By contrast, the ASD participants did not show any eyeblink synchronization with the speaker, even when viewing the speaker’s eyes and mouth simultaneously. The lack of eyeblink entrainment to the speaker in individuals with ASD suggests that they are not able to temporally attune themselves to others’ behaviors. The deficits in temporal coordination may impair effective social communication with others.
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5. Remington A, Campbell R, Swettenham J. {{Attentional Status of Faces for People With Autism Spectrum Disorder}}. {Autism};2011 (Jun 24)
In recent years there has been a growing interest in the role of attention in the processing of social stimuli in individuals with autism spectrum disorders (ASD). Research has demonstrated that, for typical adults, faces have a special status in attention and are processed in an automatic and mandatory fashion even when participants attempt to ignore them. Under conditions of high load in a selective attention task, when irrelevant stimuli are usually not processed, typical adults continue to process distractor faces. Although there is evidence of a lack of attentional bias towards faces in ASD, there has been no direct test of whether faces are processed automatically using the distractor-face paradigm. In the present study 16 typical adults and 16 adults with ASD performed selective attention tasks with face and musical instrument distractors. The results indicated that even when the load of the central task was high, typical adults continued to be distracted by irrelevant face stimuli, whereas individuals with ASD were able to ignore them. In the equivalent non-social task, distractors had no effect at high load for either group. The results suggest that faces are processed in an automatic and mandatory fashion in typical adults but not in adults with ASD.
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6. Riva D, Bulgheroni S, Aquino D, Di Salle F, Savoiardo M, Erbetta A. {{Basal Forebrain Involvement in Low-Functioning Autistic Children: A Voxel-Based Morphometry Study}}. {AJNR Am J Neuroradiol};2011 (Jun 23)
BACKGROUND AND PURPOSE: Imaging studies have revealed brain abnormalities in the regions involved in functions impaired in ASD (social relations, verbal and nonverbal communication, and adaptive behavior). We performed a VBM whole-brain analysis to assess the areas involved in autistic children with DD. MATERIALS AND METHODS: Twenty-one developmentally delayed children with ASD (aged 3-10 years) were compared with 21 controls matched for age, sex, and sociocultural background. All ASD cases had been diagnosed according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria, with the Autism Diagnostic Observation Schedule-Generic, and the Autism Diagnostic Interview-Revised. The VBM data, covaried with intelligence quotient, age, and brain volume, were analyzed. RESULTS: ASD patients showed a pattern of regional GM reduction symmetrically affecting the basal forebrain, accumbens nucleus, cerebellar hemispheres, and perisylvian regions, including insula and putamen. Asymmetric involvement of GM was observed in other brain regions functionally connected to the basal forebrain, ie, an area located close to the medial and ventral surface of the frontal lobe. No regional WM differences were observed between the 2 groups. No significant differences between patients and controls were found regarding total brain volume, GM, and WM. CONCLUSIONS: In children with ASD and DD, the novel finding of our VBM study was the demonstration of reduced GM volume in the basal forebrain and the areas connected with it. This system is involved in social behavior, communication, and cognitive skills. Whether the involvement of the basal forebrain is characteristic of ASD or is related to the DD present in our patients needs further investigation.
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7. Rousselot-Pailley B, Fortin C, Golse B, Falissard B, Robel L. {{[The FAQ self-report is a valid instrument to characterize endophenotypes of the autistic spectrum in parents of children with autism.]}}. {Encephale};2011 (Jun);37(3):191-198.
BACKGROUND: We have previously developed the FAQ self-report, an adaptation of the Baron-Cohen’s Autism Quotient self-report, in order to detect traits of the autistic spectrum in the parents and siblings of children with autism. We have previously shown that parents of children with autism show significant differences in their global scores and in their social functioning scores according to their answers to the FAQ self-report. OBJECTIVE: Our aim was to validate the FAQ self-report in a population of control parents, and to confirm our previous results concerning parents of children with autism. METHODOLOGY: Hundred and twenty-seven adults (67 female, 60 male), parents of children with normal development were recruited in the general population. They were asked to fulfill the 40 questions of the FAQ self-report at two different times. Sixty-six parents of children with autism were asked to fulfill the FAQ self-report, for group comparisons. Statistical factor analysis and test-retest reliability analysis was performed with the Matlab toolbox((c)) software. RESULTS: Statistical factor analysis and test-retest reliability show that the FAQ is structured in two main factors, socialization and communication on one hand, rigidity and imagination on the other, with good test-retest reliability. Further comparison between parents of children with autism and control parents shows a significant difference between the two groups for the socialization and communication domain, and for the global score. We show for the first time that scores of the parents of children with autism remain unchanged from infancy to adulthood. CONCLUSION: The FAQ is the first French validated self-report focused on the detection of traits of the autistic spectrum in parents and siblings of children with autism. It is structured in two main factors, corresponding to imagination/rigidity, which are negatively correlated, and communication and socialization, which are positively correlated. The FAQ is therefore a reliable instrument to measure endophenotypes associated with the autistic spectrum in parents of children with autism, and may be useful in genetic studies.
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8. Rzepecka H, McKenzie K, McClure I, Murphy S. {{Sleep, anxiety and challenging behaviour in children with intellectual disability and/or autism spectrum disorder}}. {Res Dev Disabil};2011 (Jun 21)
Children with an intellectual disability (ID) and/or autism spectrum disorder (ASD) are known to suffer from significantly more sleep problems, anxiety and challenging behaviour (CB) than typically developing children (TD), yet little is known about the relationship between these factors in the child ID/ASD population. The study aim was to examine these relationships. We hypothesised that there would be significant positive correlations between the three factors and that sleep problems and anxiety would predict a significant amount of the variance in levels of CB. Parental measures of sleep problems, anxiety and CB were completed by 187 parents of children with ID and/or ASD. Significant positive associations were found between the three factors. A hierarchical multiple regression showed that medication, sleep problems and anxiety accounted for 42% of the variance in CB, with a large effect size. These findings suggest that these relationships should be considered during clinical practice, particularly in the case of CB interventions where sleep problems and/or anxiety are also present.
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9. Scherer SW, Dawson G. {{Risk factors for autism: translating genomic discoveries into diagnostics}}. {Hum Genet};2011 (Jun 24)
Autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in communication and reciprocal social interaction, and the presence of restricted and repetitive behaviors. The spectrum of autistic features is variable, with severity of symptoms ranging from mild to severe, sometimes with poor clinical outcomes. Twin and family studies indicate a strong genetic basis for ASD susceptibility. Recent progress in defining rare highly penetrant mutations and copy number variations as ASD risk factors has prompted early uptake of these research findings into clinical diagnostics, with microarrays becoming a ‘standard of care’ test for any ASD diagnostic work-up. The ever-changing landscape of the generation of genomic data coupled with the vast heterogeneity in cause and expression of ASDs (further influenced by issues of penetrance, variable expressivity, multigenic inheritance and ascertainment) creates complexity that demands careful consideration of how to apply this knowledge. Here, we discuss the scientific, ethical, policy and communication aspects of translating the new discoveries into clinical and diagnostic tools for promoting the well-being of individuals and families with ASDs.
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10. Seidman I, Yirmiya N, Milshtein S, Ebstein RP, Levi S. {{The Broad Autism Phenotype Questionnaire: Mothers Versus Fathers of Children with an Autism Spectrum Disorder}}. {J Autism Dev Disord};2011 (Jun 25)
Parents of individuals with autism were examined using the Broad Autism Phenotype Questionnaire (BAPQ; Hurley et al. in J Autism Dev Disord 37:1679-1690, 2007) assessing BAP-related personality and language characteristics. The BAPQ was administered to parents as a self-report and as an informant (spouse)-based measure. Results indicated the same pattern of differences for the informant and best-estimate (average between self-report and informant scores) reports. Fathers were rated as more « aloof » than mothers, whereas mothers were rated as more « rigid » than fathers. Fathers described their wives as less « aloof » and more « rigid » compared to the mothers’ self-descriptions. Correlational analyses revealed no significant associations among parent/child characteristics and parents’ BAPQ scores. Results are discussed in reference to sex differences in BAP-related characteristics in parents of children with autism.
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11. Spiker MA, Lin CE, Van Dyke M, Wood JJ. {{Restricted interests and anxiety in children with autism}}. {Autism};2011 (Jun 24)
A preoccupation with restricted interests (RI) is a core symptom of autism spectrum disorders (ASD). Engagement in RI is commonly observed in this population and impacts social, adaptive, and emotional functioning. The presence of anxiety disorders and overlap in symptom expression with RI, such as obsessive compulsive disorder (OCD), in children with ASD suggests a possible link between anxiety and the RI manifestation. RI play a multidimensional role in ASD and have been described as being expressed in multiple forms, such as fact collection or the enactment of RI through play. However, there is little research exploring in more detail the possible relationship between RI expression and anxiety. To explore the association between RI expression and anxiety, the current study examined the association between the various modes of RI expression and anxiety disorder symptoms in 68 elementary-aged children diagnosed with high-functioning ASD. Findings indicated that symbolic enactment of RI in the form of play, rather than information collection or time engaged in RI, was significantly linked with the increased presence and severity of anxiety symptoms. The conceptualization of RI as possible maladaptive coping responses to negative emotional experiences is discussed.
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12. Tavassoli T, Latham K, Bach M, Dakin SC, Baron-Cohen S. {{Psychophysical measures of visual acuity in autism spectrum conditions}}. {Vision Res};2011 (Jun 16)
Previously reported superior visual acuity (VA) in autism spectrum conditions (ASC) may have resulted from methodological settings used (Ashwin, Ashwin, Rhydderch, Howells, & Baron-Cohen, 2009). The current study re-tested whether participants with (N=20) and without (N=20) ASC differ on psychophysical measures of VA. Participants’ vision was corrected before acuity measurement, minimising refractive blur. VA was assessed with an ETDRS chart as well as the Freiburg Visual Acuity and Contrast Test (FrACT). FrACT testing was undertaken at 4m (avoiding limitations of pixel-size), using 36 trials (avoiding fatigue). Best corrected VA was significantly better than the initial habitual acuity in both groups, but adults with and without ASC did not differ on ETDRS or FrACT binocular VA. Future research should examine at which level of visual processing sensory differences emerge.
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13. Wei H, Malik M, Sheikh AM, Merz G, Ted Brown W, Li X. {{Abnormal Cell Properties and Down-Regulated FAK-Src Complex Signaling in B Lymphoblasts of Autistic Subjects}}. {Am J Pathol};2011 (Jul);179(1):66-74.
Recent studies suggest that one of the major pathways to the pathogenesis of autism is reduced cell migration. Focal adhesion kinase (FAK) has an important role in neural migration, dendritic morphological characteristics, axonal branching, and synapse formation. The FAK-Src complex, activated by upstream reelin and integrin beta1, can initiate a cascade of phosphorylation events to trigger multiple intracellular pathways, including mitogen-activated protein kinase-extracellular signal-regulated kinase and phosphatidylinositol 3-kinase-Akt signaling. In this study, by using B lymphoblasts as a model, we tested whether integrin beta1 and FAK-Src signaling are abnormally regulated in autism and whether abnormal FAK-Src signaling leads to defects in B-lymphoblast adhesion, migration, proliferation, and IgG production. To our knowledge, for the first time, we show that protein expression levels of both integrin beta1 and FAK are significantly decreased in autistic lymphoblasts and that Src protein expression and the phosphorylation of an active site (Y416) are also significantly decreased. We also found that lymphoblasts from autistic subjects exhibit significantly decreased migration, increased adhesion properties, and an impaired capacity for IgG production. The overexpression of FAK in autistic lymphoblasts countered the adhesion and migration defects. In addition, we demonstrate that FAK mediates its effect through the activation of Src, phosphatidylinositol 3-kinase-Akt, and mitogen-activated protein kinase signaling cascades and that paxillin is also likely involved in the regulation of adhesion and migration in autistic lymphoblasts.
