1. Allman MJ, Mareschal D. {{Possible evolutionary and developmental mechanisms of mental time travel (and implications for autism)}}. {Curr Opin Behav Sci};2016 (Apr);8:220-225.
Through an interdisciplinary perspective integrating behavior, neurobiology and evolution, we present a cognitive framework underpinning the development of ‘time in mind’ in animals (phylogeny) and humans (ontogeny). We distinguish between conscious processing of events immediately available (in the present) to those that are hypothetical (in the past or future). The former is present in animals and neonates, whereas the latter emerges later in phylogeny and ontogeny (around 4 years of age in humans) and is related to the development of episodic memory (expanded working memory, complex actions, social-cognitive abilities). We suggest that forms of temporal representation that rely upon current bodily sensation across time, space, and action (through embodied interoceptive and motor systems) may be critical causal factors for the evolution of mental time travel.
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2. Anderson GM, Cook EH, Jr. {{Commentary on « Platelet Studies in Autism Spectrum Disorder Patients and First-Degree Relatives »}}. {Mol Autism};2016;7:20.
We comment on the recent report entitled « Platelet Studies in Autism Spectrum Disorder Patients and First-Degree Relatives » [Molecular Autism 2015;6:57]. We find it commendable that the authors have investigated platelet factors potentially involved in the well-replicated observation of platelet hyperserotonemia in autism. However, we believe the results need a fuller discussion in the context of prior studies, think that certain aspects of the interpretation need to be reassessed, and attempt to provide a framework for further research in this area.
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3. Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J. {{Frequency and Complexity of De Novo Structural Mutation in Autism}}. {Am J Hum Genet};2016 (Mar 23)
Genetic studies of autism spectrum disorder (ASD) have established that de novo duplications and deletions contribute to risk. However, ascertainment of structural variants (SVs) has been restricted by the coarse resolution of current approaches. By applying a custom pipeline for SV discovery, genotyping, and de novo assembly to genome sequencing of 235 subjects (71 affected individuals, 26 healthy siblings, and their parents), we compiled an atlas of 29,719 SV loci (5,213/genome), comprising 11 different classes. We found a high diversity of de novo mutations, the majority of which were undetectable by previous methods. In addition, we observed complex mutation clusters where combinations of de novo SVs, nucleotide substitutions, and indels occurred as a single event. We estimate a high rate of structural mutation in humans (20%) and propose that genetic risk for ASD is attributable to an elevated frequency of gene-disrupting de novo SVs, but not an elevated rate of genome rearrangement.
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4. Carr T, Lord C. {{A Pilot Study Promoting Participation of Families with Limited Resources in Early Autism Intervention}}. {Res Autism Spectr Disord};2016 (May 1);2:87-96.
BACKGROUND: Relatively little research about autism early intervention has occurred in families of low socioeconomic status. Barriers to participation for under-resourced families (i.e., families with low incomes or limited education), pose a significant problem. The purpose of this pilot study was to apply empirically supported methods promoting participation of families with low-income and low-education levels to an established intervention for children with autism spectrum disorder (ASD). METHOD: Participant recruitment specifically targeted families whose income was equal to or below two times the federal poverty line and whose caregiver(s) had no more than two years of college attendance. An evidence-based intervention was modified to be more accessible to participating families. Adaptations focused on decreasing access barriers, decreasing attrition, and promoting positive change within families. Success of the program was measured quantitatively and qualitatively. RESULTS: Twenty-seven families were referred to the project, 13 of which did not meet eligibility requirements. Eight families enrolled, maintained participation for the majority of the project and provided positive qualitative feedback of their experiences. Project and treatment attrition were calculated at 62% and 12.5%, respectively. Treatment attendance was high, but length of time to complete treatment was greatly influenced by the number of session cancellations. CONCLUSIONS: The exploratory project demonstrated that practical modifications to standard early intervention protocols can promote engagement in families with limited resources. Recommendations for programs seeking to implement interventions in under-resourced communities are discussed.
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5. Cianfaglione R, Hastings RP, Felce D, Clarke A, Kerr MP. {{Change over a 16-month period in the psychological well-being of mothers of girls and women with Rett syndrome}}. {Dev Neurorehabil};2016 (Mar 28):1-5.
PURPOSE: There is an emerging research literature on the experiences of family members of girls and women with Rett syndrome (RTT), but a lack of longitudinal data. METHODS: Fifty mothers whose daughters had RTT were surveyed 16-17 months after an earlier cross-sectional study. Measures completed at both time points focused on maternal positive and negative psychological well-being and their daughters’ behavioral and emotional problems and RTT behavioral phenotype severity. RESULTS: Maternal stress, anxiety, and depression demonstrated at least moderate levels of stability. Maternal positive perceptions were also moderately stable over 16-17 months. Longitudinal analyses suggested that their daughters’ behavioral and emotional problems rather than RTT behavioral phenotype severity predicted later maternal well-being. CONCLUSION: Mothers with RTT daughters experience chronic stress (persisting over time) but also ongoing positive perceptions. Practitioners should recognize positive perceptions and also consider targeted behavioral parent training to reduce behavior problems in individuals with RTT.
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6. Crewther DP, Crewther D, Bevan S, Goodale MA, Crewther SG. {{Greater magnocellular saccadic suppression in high versus low autistic tendency suggests a causal path to local perceptual style}}. {R Soc Open Sci};2015 (Dec);2(12):150226.
Saccadic suppression-the reduction of visual sensitivity during rapid eye movements-has previously been proposed to reflect a specific suppression of the magnocellular visual system, with the initial neural site of that suppression at or prior to afferent visual information reaching striate cortex. Dysfunction in the magnocellular visual pathway has also been associated with perceptual and physiological anomalies in individuals with autism spectrum disorder or high autistic tendency, leading us to question whether saccadic suppression is altered in the broader autism phenotype. Here we show that individuals with high autistic tendency show greater saccadic suppression of low versus high spatial frequency gratings while those with low autistic tendency do not. In addition, those with high but not low autism spectrum quotient (AQ) demonstrated pre-cortical (35-45 ms) evoked potential differences (saccade versus fixation) to a large, low contrast, pseudo-randomly flashing bar. Both AQ groups showed similar differential visual evoked potential effects in later epochs (80-160 ms) at high contrast. Thus, the magnocellular theory of saccadic suppression appears untenable as a general description for the typically developing population. Our results also suggest that the bias towards local perceptual style reported in autism may be due to selective suppression of low spatial frequency information accompanying every saccadic eye movement.
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7. Halpin J. {{What do nurses think they are doing in pre-school autism assessment?}}. {Br J Nurs};2016 (Mar 24);25(6):319-323.
This study reports on the perspective of all the specialist nurses in community paediatric teams in one NHS trust on their role in pre-school autism assessment. Kim’s critical reflective inquiry research method ( Kim, 1999 ) was adapted through the inclusion of the researcher as a participant. Participants reflected on the nursing beliefs and values they hold in common, and on their actions in practice. The study found that the beliefs and values held by these nurses, and their intention to offer holistic nursing delivered through a professional relationship of care, correlated with the kind of care that parents have said families need, and make a unique contribution to team assessment.
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8. Heimann M, Nordqvist E, Strid K, Connant Almrot J, Tjus T. {{Children with autism respond differently to spontaneous, elicited and deferred imitation}}. {J Intellect Disabil Res};2016 (Mar 28)
BACKGROUND: Imitation, a key vehicle for both cognitive and social development, is often regarded as more difficult for children with autism spectrum disorders (ASD) than for children with Down syndrome (DS) or typically developing (TD) children. The current study investigates similarities and differences in observed elicited, spontaneous and deferred imitation using both actions with objects and gestures as imitation tasks in these groups. METHODS: Imitation among 19 children with autism was compared with 20 children with DS and 23 TD children matched for mental and language age. RESULTS: Elicited imitation resulted in significantly lower scores for the ASD group compared with the other two groups, an effect mainly carried by a low level of gesture imitation among ASD children. We observed no differences among the groups for spontaneous imitation. However, children with ASD or DS displayed less deferred imitation than the TD group. Proneness to imitate also differed among groups: only 10 (53%) of the children with autism responded in the elicited imitation condition compared with all children with DS and almost all TD children (87%). CONCLUSIONS: These findings add to our understanding of the kind of imitation difficulties children with ASD might have. They also point to the necessity of not equating various imitation measures because these may capture different processes and be differently motivating for children with autism.
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9. Hryniewiecka-Jaworska A, Foden E, Kerr M, Felce D, Clarke A. {{Prevalence and associated features of depression in women with Rett syndrome}}. {J Intellect Disabil Res};2016 (Mar 29)
BACKGROUND: Little is known about depression among women with Rett syndrome (RTT) despite recent advances in knowledge about RTT. In this study, we aimed to establish the prevalence of depression among women with RTT as identified by a screening telephone interview and to explore the clinical factors associated with this. METHODS: The study employed the cross-sectional analysis of data from telephone interviews with carers of 56 women with RTT, using validated questionnaires for assessing mental health problems, challenging behaviour and RTT severity. RESULTS: Scores on the mental health assessment reached the affective/neurotic threshold in eight cases (14.3%). No significant differences were found between those reaching the threshold and those who did not in terms of severity of RTT phenotype, health problems or social circumstances. There was a significant association between screening identified depression and higher lethargy and social withdrawal. CONCLUSIONS: Screening identified depression was found among a sizeable minority of women with RTT. Further investigation is needed to establish a clinically validated prevalence of depression among this group and to identify behavioural features that would lead to prompt psychiatric assessment.
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10. Kalkan Z, Durasi IM, Sezerman U, Atasever-Arslan B. {{Potential of GRID2 Receptor Gene for Preventing TNF Induced Neurodegeneration in Autism}}. {Neurosci Lett};2016 (Mar 24)
Autism is one of the most common subtypes of autism spectrum disorder (ASD). Recent studies suggested a relationship between immune-dependent coding genes and ASD, indicating that long term neuroimmunological anomalies affect brain development and synaptic transmission among neural networks. Furthermore, various studies focused on biomarker potential of TNF-alpha in autism. Ionotropic receptors are also studied as potential marker for autism since altered gene expression levels are observed in autistic patients. GRID2 is a candidate ionotropic receptor which is involved glutamate transfer. In this study, to propose TNF- alpha dependent cellular processes involved in autism aetiology in relation to GRID2 we performed a bioinformatic network analysis and identified potential pathways and genes that are involved in TNF-alpha induced changes at GRID2 receptor levels. As a result, we ascertained the GRID2 receptor gene as a candidate gene and further studied the association between GRID2 expression levels and TNF-induced neurodegeneration. Our bioinformatic analyses and experimental results revealed that TNF-alpha regulates GRID2 gene expression by activating Cdc42 and GOPC genes. Moreover, increased TNF-alpha levels leads to increase of caspase-3 protein levels triggering neuronal apoptosis leading to neuronal deficiency, which is one of the major symptoms of autism. The study is the first to show the role of TNF-alpha in regulation of GRID2 gene expression and its signalling pathway. As a result, GRID2 gene can be a suppressor in TNF-induced neurodegeneration which may help to understand the main factors leading to autism.
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11. Patil I, Melsbach J, Hennig-Fast K, Silani G. {{Divergent roles of autistic and alexithymic traits in utilitarian moral judgments in adults with autism}}. {Sci Rep};2016;6:23637.
This study investigated hypothetical moral choices in adults with high-functioning autism and the role of empathy and alexithymia in such choices. We used a highly emotionally salient moral dilemma task to investigate autistics’ hypothetical moral evaluations about personally carrying out harmful utilitarian behaviours aimed at maximizing welfare. Results showed that they exhibited a normal pattern of moral judgments despite the deficits in social cognition and emotional processing. Further analyses revealed that this was due to mutually conflicting biases associated with autistic and alexithymic traits after accounting for shared variance: (a) autistic traits were associated with reduced utilitarian bias due to elevated personal distress of demanding social situations, while (b) alexithymic traits were associated with increased utilitarian bias on account of reduced empathic concern for the victim. Additionally, autistics relied on their non-verbal reasoning skills to rigidly abide by harm-norms. Thus, utilitarian moral judgments in autism were spared due to opposite influences of autistic and alexithymic traits and compensatory intellectual strategies. These findings demonstrate the importance of empathy and alexithymia in autistic moral cognition and have methodological implications for studying moral judgments in several other clinical populations.
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12. Sato R, Shirai K, Maekawa M, Genma R, Ohki S, Morita H, Suda T, Watanabe H. {{Glycaemia and autistic traits in very low birth weight infants in adulthood}}. {Diabetes Metab};2016 (Mar 29)
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13. Serna RW, Lobo HE, Fleming CK, Fleming RK, Curtin C, Foran MM, Hamad CD. {{Innovations in Behavioral Intervention Preparation for Paraprofessionals Working with Children with Autism Spectrum Disorder}}. {J Spec Educ Technol};2015 (Mar);30(1):1-12.
Given the empirically validated success of behavioral intervention based on applied behavior analysis for individuals with autism spectrum disorder and other developmental disabilities, the demand for knowledgeable and skilled paraprofessional teaching staff is very high. Unfortunately, there currently exists a widely recognized shortage of such practitioners. This paper describes the development of an online training program aimed at preparing paraprofessionals for face-to-face training and supervision, as part of a solution to the growing demand. The focus of the program has been on moving beyond traditional online pedagogy, which has limited interactivity. Instead, the approach to teaching fundamental knowledge and implementation skills in behavioral intervention methods incorporates first-person simulations, typical of live mentor/mentee training. Preliminary program evaluation data are also described.
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14. Silbaugh BC, Falcomata TS. {{Translational evaluation of a lag schedule and variability in food consumed by a boy with autism and food selectivity}}. {Dev Neurorehabil};2016 (Mar 28):1-4.
PURPOSE: To evaluate the effects of a lag schedule of positive reinforcement on variability in food consumed by a boy with autism and food selectivity. METHODS: Using single-subject experimental design methodology, an ABAB design was employed. During lag 0 (condition A), high-preferred toys were delivered contingent on consumption of any food. During lag 1 (condition B), high-preferred toys were delivered contingent on consumption of different foods within session. RESULTS: Higher levels of variability in within-session consumption were observed during lag 1 conditions. CONCLUSIONS: The lag 1 schedule of reinforcement increased variability in food consumed. This finding adds to the literature by demonstrating a novel experimental arrangement that may be used in applied studies to evaluate the clinical utility of differentially reinforcing variability in the treatment of food selectivity associated with autism.
