1. Chung BH, Drmic I, Marshall CR, Grafodatskaya D, Carter M, Fernandez BA, Weksberg R, Roberts W, Scherer SW. {{Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder}}. {Eur J Med Genet};2011 (Jun 17)
Dup(X)(p11.22-p11.23) has been shown to be associated with intellectual disability (ID, also referred to as mental retardation). Here, we characterize a 4.64 Mb de novo duplication of the same Xp11.22-p11.23 ID region in a female, but for this reference case the diagnosis was Autism Spectrum Disorder (ASD). Besides ASD, she also had very persistent trichotillomania, anxiety symptoms and some non-specific dysmorphic features. We report the detailed clinical features, as well as refine the rearrangement breakpoints of this disease-associated copy number variation region, which encompasses more than 50 genes. We propose that in addition to ID, the phenotypic spectrum associated with dup(X)(p11.22-p11.23) can include ASD, language impairment, and/or other primary psychiatric disorders.
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2. Dereu M, Raymaekers R, Warreyn P, Schietecatte I, Meirsschaut M, Roeyers H. {{Can Child Care Workers Contribute to the Early Detection of Autism Spectrum Disorders? A Comparison Between Screening Instruments with Child Care Workers Versus Parents as Informants}}. {J Autism Dev Disord};2011 (Jun 21)
Several screening instruments for ASD in young children were developed during the last decades. Only few studies compare the discriminative power of these instruments in the same sample. In particular comparisons of instruments that use different informants are scarce in young children. The current study compared the discriminant ability of the Checklist for Early Signs of Developmental Disorders (CESDD) filled out by child care workers with that of frequently used parent questionnaires in a sample of 357 children between 5.57 and 48.13 months old who showed signs of ASD or language delay. The discriminant power of the CESDD was as good as that of parent questionnaires. Therefore, inclusion of child care workers in the early detection of ASD seems promising.
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3. Dinstein I, Pierce K, Eyler L, Solso S, Malach R, Behrmann M, Courchesne E. {{Disrupted neural synchronization in toddlers with autism}}. {Neuron};2011 (Jun 23);70(6):1218-1225.
Autism is often described as a disorder of neural synchronization. However, it is unknown how early in development synchronization abnormalities emerge and whether they are related to the development of early autistic behavioral symptoms. Here, we show that disrupted synchronization is evident in the spontaneous cortical activity of naturally sleeping toddlers with autism, but not in toddlers with language delay or typical development. Toddlers with autism exhibited significantly weaker interhemispheric synchronization (i.e., weak « functional connectivity » across the two hemispheres) in putative language areas. The strength of synchronization was positively correlated with verbal ability and negatively correlated with autism severity, and it enabled identification of the majority of autistic toddlers (72%) with high accuracy (84%). Disrupted cortical synchronization, therefore, appears to be a notable characteristic of autism neurophysiology that is evident at very early stages of autism development.
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4. Guo YQ, Tang Y, Rice C, Lee LC, Wang YF, Cubells JF. {{Validation of the Autism Spectrum Screening Questionnaire, Mandarin Chinese Version (CH-ASSQ) in Beijing, China}}. {Autism};2011 (Jun 20)
Background: This study screened children in Beijing, China, in order to establish the validity of a Mandarin Chinese translation of the ASSQ.<br/>Methods: We recruited children diagnosed with autism spectrum disorders (ASDs), attention deficit/hyperactivity disorder (ADHD), childhood-onset schizophrenia (COS) (DSM-IV diagnoses made independently by two senior psychiatrists) and unaffected children attending a public school in Beijing. Their parents were asked to complete the CH-ASSQ.<br/>Results: Data from the parents of 94 children with ASD (mean age: 81 +/- 47 months), 45 with ADHD (106 +/- 27 months), 26 with COS (166 +/- 36 months), and 120 unaffected control (72 +/- 16 months) were collected. The total scores of ASSQ in children with ASD, ADHD, COS, and unaffected controls were 25.3 +/- 9.2, 10.4 +/- 7.1, 12.2 +/- 10.6, and 5.2 +/- 6.6 respectively. Total ASSQ scores of children with ASD were significantly higher than in any other group (all p < .0001). ROC analysis of ASD versus unaffected control subjects showed the area under curve was 0.957, with a cutoff of 12 having the maximum sensitivity (0.957) and specificity (0.825).<br/>Conclusions: Our pilot data suggest that CH-ASSQ successfully differentiates clinically diagnosed ASD patients from unaffected controls, as well as from patients with ADHD and COS. The instrument might therefore be useful for screening for ASD in urban Mandarin Chinese-speaking populations.
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5. Kanne SM, Wang J, Christ SE. {{The Subthreshold Autism Trait Questionnaire (SATQ): Development of a Brief Self-Report Measure of Subthreshold Autism Traits}}. {J Autism Dev Disord};2011 (Jun 22)
The current study was motivated by a need for a self-report questionnaire that assesses a broad range of subthreshold autism traits, is brief and easily administered, and is relevant to the general population. An initial item pool was administered to 1,709 students. Structural validity analysis resulted in a 24-item questionnaire termed the Subthreshold Autism Trait Questionnaire (SATQ; Cronbach’s alpha coefficient = .73, test-retest reliability = .79). An exploratory factor analysis suggested 5 factors. Confirmatory factor analysis indicated the 5 factor solution was an adequate fit and outperformed two other models. The SATQ successfully differentiated between an ASD and student group and demonstrated convergent validity with other ASD measures. Thus, the current study introduces and provides initial psychometric support for the SATQ.
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6. Koolen S, Vissers CT, Hendriks AW, Egger JI, Verhoeven L. {{The Interplay Between Attentional Strategies and Language Processing in High-functioning Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2011 (Jun 21)
This study examined the hypothesis of an atypical interaction between attention and language in ASD. A dual-task experiment with three conditions was designed, in which sentences were presented that contained errors requiring attentional focus either at (a) low level, or (b) high level, or (c) both levels of language. Speed and accuracy for error detection were measured from 16 high-functioning adults with ASD, and 16 matched controls. For controls, there was an attentional cost of dual level processing for low level performance but not for high level performance. For participants with ASD, there was an attentional cost both for low level and for high level performance. These results suggest a compensatory strategic use of attention during language processing in ASD.
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7. Napolioni V, Persico AM, Porcelli V, Palmieri L. {{The Mitochondrial Aspartate/Glutamate Carrier AGC1 and Calcium Homeostasis: Physiological Links and Abnormalities in Autism}}. {Mol Neurobiol};2011 (Jun 21)
Autism spectrum disorder (ASD) is a severe, complex neurodevelopmental disorder characterized by impairments in reciprocal social interaction and communication, and restricted and stereotyped patterns of interests and behaviors. Recent evidence has unveiled an important role for calcium (Ca(2+)) signaling in the pathogenesis of ASD. Post-mortem studies of autistic brains have pointed toward abnormalities in mitochondrial function as possible downstream consequences of altered Ca(2+) signaling, abnormal synapse formation, and dysreactive immunity. SLC25A12, an ASD susceptibility gene, encodes the Ca(2+)-regulated mitochondrial aspartate-glutamate carrier, isoform 1 (AGC1). AGC1 is an important component of the malate/aspartate shuttle, a crucial system supporting oxidative phosphorylation and adenosine triphosphate (ATP) production. Here, we review the physiological roles of AGC1, its links to calcium homeostasis, and its involvement in autism pathogenesis.
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8. Nickl-Jockschat T, Habel U, Maria Michel T, Manning J, Laird AR, Fox PT, Schneider F, Eickhoff SB. {{Brain structure anomalies in autism spectrum disorder-a meta-analysis of VBM studies using anatomic likelihood estimation}}. {Hum Brain Mapp};2011 (Jun 20)
Autism spectrum disorders (ASD) are pervasive developmental disorders with characteristic core symptoms such as impairments in social interaction, deviance in communication, repetitive and stereotyped behavior, and impaired motor skills. Anomalies of brain structure have repeatedly been hypothesized to play a major role in the etiopathogenesis of the disorder. Our objective was to perform unbiased meta-analysis on brain structure changes as reported in the current ASD literature. We thus conducted a comprehensive search for morphometric studies by Pubmed query and literature review. We used a revised version of the activation likelihood estimation (ALE) approach for coordinate-based meta-analysis of neuroimaging results. Probabilistic cytoarchitectonic maps were applied to compare the localization of the obtained significant effects to histological areas. Each of the significant ALE clusters was analyzed separately for age effects on gray and white matter density changes. We found six significant clusters of convergence indicating disturbances in the brain structure of ASD patients, including the lateral occipital lobe, the pericentral region, the medial temporal lobe, the basal ganglia, and proximate to the right parietal operculum. Our study provides the first quantitative summary of brain structure changes reported in literature on autism spectrum disorders. In contrast to the rather small sample sizes of the original studies, our meta-analysis encompasses data of 277 ASD patients and 303 healthy controls. This unbiased summary provided evidence for consistent structural abnormalities in spite of heterogeneous diagnostic criteria and voxel-based morphometry (VBM) methodology, but also hinted at a dependency of VBM findings on the age of the patients. Hum Brain Mapp, 2011. (c) 2011 Wiley-Liss, Inc.
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9. Pajareya K, Nopmaneejumruslers K. {{A pilot randomized controlled trial of DIR/FloortimeTM parent training intervention for pre-school children with autistic spectrum disorders}}. {Autism};2011 (Jun 13)
This pilot study was designed to test the efficacy of adding home-based Developmental, Individual-Difference, Relationship-Based (DIR)/Floortime(TM) intervention to the routine care of preschool children with autistic spectrum disorder. Measures of functional emotional development and symptom severity were taken. It was found that after the parents added home-based DIR/Floortim(TM) intervention at an average of 15.2 hours/week for three months, the intervention group made significantly greater gains in all three measures employed in the study: Functional Emotional Assessment Scale (FEAS) (F = 5.1, p = .031), Childhood Autism Rating Scale (F = 2.1, p = .002), and the Functional Emotional Questionnaires (F = 6.8, p = .006). This study confirms the positive results obtained by a previous DIR pilot study (Solomon et al., 2007).
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10. Petrides KV, Hudry K, Michalaria G, Swami V, Sevdalis N. {{A comparison of the trait emotional intelligence profiles of individuals with and without Asperger syndrome}}. {Autism};2011 (Jun 13)
The extent to which the socioemotional impairments of Asperger syndrome (AS) might be extreme manifestations of individual differences within the general population remains under-explored. We compared the trait emotional intelligence (trait EI) profiles of 30 individuals with AS against the profiles of 43 group-matched controls using the Trait Emotional Intelligence Questionnaire (TEIQue). Participants with AS scored significantly lower than controls on 12 of the 15 TEIQue facets (eta(p)² = 0.09 to 0.49) as well as on all four factors and the global score of the construct (eta(p)² = 0.07 to 0.41). There was a significant main effect of gender, with men generally scoring higher than women. Results are discussed from the perspective of trait EI theory, with emphasis on its implications for the socioemotional impairments associated with AS.
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11. Reed P, Watts H, Truzoli R. {{Flexibility in young people with autism spectrum disorders on a card sort task}}. {Autism};2011 (Jun 20)
Adults with autism spectrum disorders (ASD) have shown deficits in switching between rules governing their behaviour, as have high-functioning children with ASD. However, there are few studies of flexibility in lower-functioning children with ASD. The current study investigated this phenomenon with a group of low-functioning children with ASD compared to a mental-age-matched comparison group. The ASD group learned an initial discrimination task as quickly as the matched comparison group, but when the rule governing the discrimination was shifted, the comparison group learned the task with fewer errors, and made the discrimination more quickly than the groups with ASD. These findings suggest that low-functioning children with ASD do display the predicted deficits in extra-dimensional shift.
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12. Ridley NJ, Homewood J, Walters J. {{Cerebellar Dysfunction, Cognitive Flexibility and Autistic Traits in a non-Clinical Sample}}. {Autism};2011 (Jun 20)
Cerebellar dysfunction and impaired cognitive flexibility are key features of autism spectrum disorders (ASD). However, despite the increasing interest in subclinical autism, no research has yet examined the relationship between these signs and autistic traits in the wider population. This study used the Autism-Spectrum Quotient (AQ) questionnaire to assess autistic traits in university students enrolled in either systems-oriented or humanities degree programmes. Participants also completed a battery of motor tasks designed to assess cerebellar function, and subscales from the Delis-Kaplan Executive Function System (D-KEFS) battery. Students enrolled in systems-oriented degrees had on average higher AQ scores than students enrolled in humanities degrees. The data showed a significant correlation between autistic traits and motor function scores, as well as between autistic traits and verbal set-shifting ability, as assessed on the D-KEFS. These data provide support for the autistic spectrum hypothesis, in indicating that key cognitive, neurological and behavioural features of autism carry over into non-clinical populations.
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13. Ruble LA, Dalrymple NJ, McGrew JH. {{The Effects of Consultation on Individualized Education Program Outcomes for Young Children With Autism: The Collaborative Model for Promoting Competence and Success}}. {J Early Interv};2010 (Sep);32(4):286-301.
The effects of a teacher consultation intervention were examined-namely, the collaborative model for promoting competence and success (COMPASS), which was designed to improve objectives of individualized education programs for children with autism. The intervention consists of an initial parent-teacher consultation, followed by four teacher consultations across the school year. Thirty-five teachers and a randomly selected child with autism (M age = 6.1 years) from each classroom participated. Compared to the nonintervention teacher-child dyads, the intervention teacher-child dyads showed improvements in individualized education program objectives, with a large effect size (d = 1.51).
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14. Ruble LA, Usher EL, McGrew JH. {{Preliminary Investigation of the Sources of Self-Efficacy Among Teachers of Students with Autism}}. {Focus Autism Other Dev Disabl};2011 (Jun);26(2):67-74.
Teacher self-efficacy refers to the beliefs teachers hold regarding their capability to bring about desired instructional outcomes and may be helpful for understanding and addressing critical issues such as teacher attrition and teacher use of research-supported practices. Educating students with autism likely presents teachers with some of the most significant instructional challenges. The self-efficacy of 35 special education teachers of students with autism between the ages of 3 to 9 years was evaluated. Teachers completed rating scales that represented self-efficacy and aspects of the following 3 of Bandura’s 4 sources of self-efficacy: (1) sense of mastery, (2) social persuasions, and (3) physiological/affective states. Significant associations were observed between physiological/affective states and self-efficacy, but no associations were observed for the other sources.
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15. Shane HC, Laubscher EH, Schlosser RW, Flynn S, Sorce JF, Abramson J. {{Applying Technology to Visually Support Language and Communication in Individuals with Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Jun 21)
The burgeoning role of technology in society has provided opportunities for the development of new means of communication for individuals with Autism Spectrum Disorders (ASD). This paper offers an organizational framework for describing traditional and emerging augmentative and alternative communication (AAC) technology, and highlights how tools within this framework can support a visual approach to everyday communication and improve language instruction. The growing adoption of handheld media devices along with applications acquired via a consumer-oriented delivery model suggests a potential paradigm shift in AAC for people with ASD.
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16. Silva K, Correia R, Lima M, Magalhaes A, de Sousa L. {{Can Dogs Prime Autistic Children for Therapy? Evidence from a Single Case Study}}. {J Altern Complement Med};2011 (Jun 20)
Abstract Background and objectives: Canine-assisted therapy has been receiving growing attention as a means of aiding children with autism spectrum disorder (ASD). Yet, only limited studies have been done and a great deal of literature related to this intervention is anecdotal. The present study aims at providing additional quantitative evidence on the potential of dogs to positively modulate the behavior of children with ASD. Settings/location, subjects, and interventions: A 12-year-old boy diagnosed with ASD was exposed, at his usual treatment location (the Portuguese Association for Developmental Disorders and Autism at Vila Nova de Gaia, Portugal), to the following treatment conditions: (1) one-to-one structured activities with a therapist assisted by a certified therapy dog, and (2) one-to-one structured activities with the same therapist alone (as a control). To accurately assess differences in the behavior of the participant between these treatment conditions, the therapist followed a strict research protocol. The behavior of the participant was continuously video-recorded during both treatment conditions for further analysis and comparison. Treatment outcomes: In the presence of the dog, the participant exhibited more frequent and longer durations of positive behaviors (such as smiling and positive physical contacting) as well as less frequent and shorter durations of negative behaviors (such as aggressive manifestations). Conclusions: These findings are in accordance with previous experimental work and provide additional support for the assertion that dogs can prime autistic children for therapy. Ultimately, this study may contribute toward a change for full acceptance of canine-assisted therapy programs within the medical milieu. Additional studies using a similar research protocol on more autistic children will certainly help professionals to work on the most effective methods to individually serve this population through canine-assisted interventions.
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17. Staal WG, de Krom M, de Jonge MV. {{Brief Report: The Dopamine-3-Receptor Gene (DRD3) is Associated with Specific Repetitive Behavior in Autism Spectrum Disorder (ASD)}}. {J Autism Dev Disord};2011 (Jun 21)
Recently the DRD3 gene has been associated with ASD in two independent samples. Follow up analysis of the risk allele of the SNP rs167771 in 91 subjects revealed a significant association with a specific type of repetitive behavior: the factor « insistence on sameness » (IS) derived from the Autism Diagnostic Interview. This risk allele was associated with a decreased risk for IS, but not with any other symptomatology. Further study and replication of this finding is necessary, bearing in mind that these results would not be statistically significant if corrected for multiple testing.
