1. Bons D, van den Broek E, Scheepers F, Herpers P, Rommelse N, Buitelaar JK. {{Erratum to: Motor, Emotional, and Cognitive Empathy in Children and Adolescents with Autism Spectrum Disorder and Conduct Disorder}}. {J Abnorm Child Psychol};2013 (Jan 18)
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2. Di Benedetto D, Di Vita G, Romano C, Lo Giudice M, Vitello GA, Zingale M, Grillo L, Castiglia L, Musumeci SA, Fichera M. {{6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies}}. {Mol Cytogenet};2013 (Jan 17);6(1):4.
ABSTRACT: BACKGROUND: The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far. RESULTS: High resolution array-CGH identified 1 Mb de novo interstitial deletion in 6p22.3 chromosomal region in a patient affected by severe Intellectual Disability (ID), Autism Spectrum Disorders (ASDs), and electroencephalographic anomalies. This deletion includes ATXN1, DTNBP1, JARID2 and MYLIP genes, known to play an important role in the brain, and the GMPR gene whose function in the nervous system is unknown. CONCLUSIONS: We support the suggestion that ATXN1, DTNBP1, JARID2 and MYLIP are candidate genes for the pathophysiology of ASDs and ID, and we propose that deletion of DTNBP1 and/or JARID2 contributes to the hypotonia phenotype.
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3. Ebert DH, Greenberg ME. {{Activity-dependent neuronal signalling and autism spectrum disorder}}. {Nature};2013 (Jan 17);493(7432):327-337.
Neuronal activity induces the post-translational modification of synaptic molecules, promotes localized protein synthesis within dendrites and activates gene transcription, thereby regulating synaptic function and allowing neuronal circuits to respond dynamically to experience. Evidence indicates that many of the genes that are mutated in autism spectrum disorder are crucial components of the activity-dependent signalling networks that regulate synapse development and plasticity. Dysregulation of activity-dependent signalling pathways in neurons may, therefore, have a key role in the aetiology of autism spectrum disorder.
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4. Freeth M, Foulsham T, Kingstone A. {{What affects social attention? Social presence, eye contact and autistic traits}}. {PLoS One};2013;8(1):e53286.
Social understanding is facilitated by effectively attending to other people and the subtle social cues they generate. In order to more fully appreciate the nature of social attention and what drives people to attend to social aspects of the world, one must investigate the factors that influence social attention. This is especially important when attempting to create models of disordered social attention, e.g. a model of social attention in autism. Here we analysed participants’ viewing behaviour during one-to-one social interactions with an experimenter. Interactions were conducted either live or via video (social presence manipulation). The participant was asked and then required to answer questions. Experimenter eye-contact was either direct or averted. Additionally, the influence of participant self-reported autistic traits was also investigated. We found that regardless of whether the interaction was conducted live or via a video, participants frequently looked at the experimenter’s face, and they did this more often when being asked a question than when answering. Critical differences in social attention between the live and video interactions were also observed. Modifications of experimenter eye contact influenced participants’ eye movements in the live interaction only; and increased autistic traits were associated with less looking at the experimenter for video interactions only. We conclude that analysing patterns of eye-movements in response to strictly controlled video stimuli and natural real-world stimuli furthers the field’s understanding of the factors that influence social attention.
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5. Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul-Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND. {{Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation}}. {J Med Genet};2013 (Jan 18)
BACKGROUND: The contribution of copy-number variation (CNV) to disease has been highlighted with the widespread adoption of array-based comparative genomic hybridisation (aCGH) and microarray technology. Contiguous gene deletions involving ANKRD11 in 16q24.3 are associated with autism spectrum disorder (ASD) and intellectual disability (ID), while 16q24.1 deletions affecting FOXF1 are associated with congenital renal malformations, alveolar capillary dysplasia, and various other abnormalities. The disease associations of deletions in the intervening region, 16q24.2, have only been defined to a limited extent. AIM: To determine whether deletions affecting 16q24.2 are correlated with congenital anomalies. METHODS: 35 individuals, each having a deletion in 16q24.2, were characterised clinically and by aCGH and/or SNP-genotyping microarray. RESULTS: Several of the 35 16q24.2 deletions identified here closely abut or overlap the coding regions of FOXF1 and ANKRD11, two genes that have been previously associated with the disease. 25 patients were reported to have ASD/ID, and three were found to have bilateral hydronephrosis. 14 of the deletions associated with ASD/ID overlap the coding regions of FBXO31 and MAP1LC3B. These same genes and two others, C16orf95 and ZCCHC14, are also included in the area of minimal overlap of the three deletions associated with hydronephrosis. CONCLUSIONS: Our data highlight 16q24.2 as a region of interest for ASD, ID and congenital renal malformations. These conditions are associated, albeit without complete penetrance, with deletions affecting C16orf95, ZCCHC14, MAP1LC3B and FBXO31. The function of each gene in development and disease warrants further investigation.
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6. Lindsay CJ, Moore DW, Anderson A, Dillenburger K. {{The role of imitation in video-based interventions for children with autism}}. {Dev Neurorehabil};2013 (Jan 16)
Objective: The aim of this paper is to bridge the gap between the corpus of imitation research and video-based intervention (VBI) research, and consider the impact imitation skills may be having on VBI outcomes and highlight potential areas for improving efficacy. Method: A review of the imitation literature was conducted focusing on imitation skill deficits in children with autism followed by a critical review of the video modelling literature focusing on pre-intervention assessment of imitation skills and the impact imitation deficits may have on VBI outcomes. Results: Children with autism have specific imitation deficits, which may impact VBI outcomes. Imitation training or procedural modifications made to videos may accommodate for these deficits. Conclusions: There are only six studies where VBI researchers have taken pre-intervention imitation assessments using an assortment of imitation measures. More research is required to develop a standardised multi-dimensional imitation assessment battery that can better inform VBI.
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7. Miller G. {{Neuroscience. The promise and perils of oxytocin}}. {Science};2013 (Jan 18);339(6117):267-269.
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8. Murphy ER, Foss-Feig J, Kenworthy L, Gaillard WD, Vaidya CJ. {{Atypical Functional Connectivity of the Amygdala in Childhood Autism Spectrum Disorders during Spontaneous Attention to Eye-Gaze}}. {Autism Res Treat};2012;2012:652408.
We examined functional connectivity of the amygdala in preadolescent children with Autism Spectrum Disorders (ASDs) during spontaneous attention to eye-gaze in emotional faces. Children responded to a target word (« LEFT/RIGHT ») printed on angry or fearful faces looking in a direction that was congruent, incongruent, or neutral with the target word. Despite being irrelevant to the task, gaze-direction facilitated (Congruent > Neutral) or interfered with (Incongruent > Congruent) performance in both groups. Despite similar behavioral performance, amygdala-connectivity was atypical and more widespread in children with ASD. In control children, the amygdala was more strongly connected with an emotional cognitive control region (subgenual cingulate) during interference, while during facilitation, no regions showed greater amygdala connectivity than in ASD children. In contrast, in children with ASD the amygdala was more strongly connected to salience and cognitive control regions (posterior and dorsal cingulate) during facilitation and with regions involved in gaze processing (superior temporal sulcus), cognitive control (inferior frontal gyrus), and processing of viscerally salient information (pregenual cingulate, anterior insula, and thalamus) during interference. These findings showing more widespread connectivity of the amygdala extend past findings of atypical functional anatomy of eye-gaze processing in children with ASD and challenge views of general underconnectivity in ASD.
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9. Parsons MB, Reid DH, Bentley E, Inman A, Lattimore LP. {{Identifying indices of happiness and unhappiness among adults with autism: potential targets for behavioral assessment and intervention}}. {Behav Anal Pract};2012 (Summer);5(1):15-25.
Research is increasingly demonstrating the importance of monitoring indices of happiness as part of behavioral programs for individuals who have severe intellectual disabilities. We evaluated a practitioner-oriented process for identifying and validating individualized indices of this private event among three adults with autism who were nonvocal or minimally vocal. Caregiver surveys were administered to obtain agreement regarding behavior displayed when the individuals were happy and unhappy, as well as situations in which they were likely to experience happiness and unhappiness. Observations corroborated caregiver opinion in that participants displayed more happiness indices in situations reported to be accompanied by happiness, and for the most part, more unhappiness indices in reported unhappiness situations. Subsequent choices by each participant supported the validity of the individualized indices. Results are discussed regarding how identifying happiness indices can be a useful component of behavioral applications, as well as guidelines and cautions regarding use of the indices in routine practice.
10. Smith K, Chandler K, Hindley D, Ramsden SC. {{Fragile X syndrome testing in the North West}}. {Arch Dis Child};2013 (Jan 18)
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11. Thompson S, Hiebert-Murphy D, Trute B. {{Parental perceptions of family adjustment in childhood developmental disabilities}}. {J Intellect Disabil};2013 (Jan 18)
Based on the adjustment phase of the double ABC-X model of family stress (McCubbin and Patterson, 1983) this study examined the impact of parenting stress, positive appraisal of the impact of child disability on the family, and parental self-esteem on parental perceptions of family adjustment in families of children with disabilities. For mothers, self-esteem and positive appraisal predicted maternal-perceived family adjustment and mediated the relationship between parenting stress and family adjustment. For fathers, while self-esteem and positive appraisal were not significant in directly predicting perceived family adjustment, self-esteem moderated the relationship between parenting stress and family adjustment. These results suggest that interventions that bolster self-esteem in parents may be useful in enhancing perceptions of family adjustment. Similarly, interventions that enhance mothers’ experiences of the positive aspects of parenting a child with disabilities hold potential to strengthen family adjustment.
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12. von dem Hagen EA, Stoyanova RS, Rowe JB, Baron-Cohen S, Calder AJ. {{Direct Gaze Elicits Atypical Activation of the Theory-of-Mind Network in Autism Spectrum Conditions}}. {Cereb Cortex};2013 (Jan 16)
Eye contact plays a key role in social interaction and is frequently reported to be atypical in individuals with autism spectrum conditions (ASCs). Despite the importance of direct gaze, previous functional magnetic resonance imaging in ASC has generally focused on paradigms using averted gaze. The current study sought to determine the neural processing of faces displaying direct and averted gaze in 18 males with ASC and 23 matched controls. Controls showed an increased response to direct gaze in brain areas implicated in theory-of-mind and gaze perception, including medial prefrontal cortex, temporoparietal junction, posterior superior temporal sulcus region, and amygdala. In contrast, the same regions showed an increased response to averted gaze in individuals with an ASC. This difference was confirmed by a significant gaze direction x group interaction. Relative to controls, participants with ASC also showed reduced functional connectivity between these regions. We suggest that, in the typical brain, perceiving another person gazing directly at you triggers spontaneous attributions of mental states (e.g. he is « interested » in me), and that such mental state attributions to direct gaze may be reduced or absent in the autistic brain.
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13. Washington SD, Gordon EM, Brar J, Warburton S, Sawyer AT, Wolfe A, Mease-Ference ER, Girton L, Hailu A, Mbwana J, Gaillard WD, Kalbfleisch ML, Vanmeter JW. {{Dysmaturation of the default mode network in autism}}. {Hum Brain Mapp};2013 (Jan 18)
Two hypotheses of autism spectrum disorder (ASD) propose that this condition is characterized by deficits in Theory of Mind and by hypoconnectivity between remote cortical regions with hyperconnectivity locally. The default mode network (DMN) is a set of remote, functionally connected cortical nodes less active during executive tasks than at rest and is implicated in Theory of Mind, episodic memory, and other self-reflective processes. We show that children with ASD have reduced connectivity between DMN nodes and increased local connectivity within DMN nodes and the visual and motor resting-state networks. We show that, like the trajectory of synaptogenesis, internodal DMN functional connectivity increased as a quadratic function of age in typically developing children, peaking between, 11 and 13 years. In children with ASD, these long-distance connections fail to develop during adolescence. These findings support the « developmental disconnection model » of ASD, provide a possible mechanistic explanation for the Theory-of-Mind hypothesis of ASD, and show that the window for effectively treating ASD could be wider than previously thought. Hum Brain Mapp, 2013. (c) 2013 Wiley Periodicals, Inc.
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14. Yates D. {{Neurodevelopmental disorders: Overproducing autism}}. {Nat Rev Neurosci};2013 (Feb);14(2):79.
