1. Bangel KA, Batty M, Ye AX, Meaux E, Taylor MJ, Doesburg SM. {{Reduced beta band connectivity during number estimation in autism}}. {Neuroimage Clin};2014;6:202-213.
Recent evidence suggests that disruption of integrative processes in sensation and perception may play a critical role in cognitive and behavioural atypicalities characteristic of ASD. In line with this, ASD is associated with altered structural and functional brain connectivity and atypical patterns of inter-regional communication which have been proposed to contribute to cognitive difficulties prevalent in this group. The present MEG study used atlas-guided source space analysis of inter-regional phase synchronization in ASD participants, as well as matched typically developing controls, during a dot number estimation task. This task included stimuli with globally integrated forms (animal shapes) as well as randomly-shaped stimuli which lacked a coherent global pattern. Early task-dependent increases in inter-regional phase synchrony in theta, alpha and beta frequency bands were observed. Reduced long-range beta-band phase synchronization was found in participants with ASD at 70-145 ms during presentation of globally coherent dot patterns. This early reduction in task-dependent inter-regional connectivity encompassed numerous areas including occipital, parietal, temporal, and frontal lobe regions. These results provide the first evidence for inter-regional phase synchronization during numerosity estimation, as well as its alteration in ASD, and suggest that problems with communication among brain areas may contribute to difficulties with integrative processes relevant to extraction of meaningful ‘Gestalt’ features in this population.
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2. Bennett TA, Szatmari P, Georgiades K, Hanna S, Janus M, Georgiades S, Duku E, Bryson S, Fombonne E, Smith IM, Mirenda P, Volden J, Waddell C, Roberts W, Vaillancourt T, Zwaigenbaum L, Elsabbagh M, Thompson A. {{Do reciprocal associations exist between social and language pathways in preschoolers with autism spectrum disorders?}}. {J Child Psychol Psychiatry};2014 (Nov 7)
BACKGROUND: Differences in how developmental pathways interact dynamically in children with autism spectrum disorder (ASD) likely contribute in important ways to phenotypic heterogeneity. This study aimed to model longitudinal reciprocal associations between social competence (SOC) and language (LANG) pathways in young children with ASD. METHODS: Data were obtained from 365 participants aged 2-4 years who had recently been diagnosed with an ASD and who were followed over three time points: baseline (time of diagnosis), 6- and 12 months later. Using structural equation modeling, a cross-lagged reciprocal effects model was developed that incorporated auto-regressive (stability) paths for SOC (using the Socialization subscale of the Vineland Adaptive Behavior Scales-2) and LANG (using the Preschool Language Scale-4 Auditory Comprehension subscale). Cross-domain associations included within-time correlations and lagged associations. RESULTS: SOC and LANG were highly stable over 12 months. Small reciprocal cross-lagged associations were found across most time points and within-time correlations decreased over time. There were no differences in strength of cross-lagged associations between SOC-LANG and LANG-SOC across time points. Few differences were found between subgroups of children with ASD with and without cognitive impairment. CONCLUSIONS: Longitudinal reciprocal cross-domain associations between social competence and language were small in this sample of young children with ASD. Instead, a pattern emerged to suggest that the two domains were strongly associated around time of diagnosis in preschoolers with ASD, and then appeared to become more independent over the ensuing 12 months.
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3. Chhawchharia R, Puliyel JM. {{Commentary – Controversies surrounding mercury in vaccines: autism denial as impediment to universal immunisation}}. {Indian J Med Ethics};2014 (Oct-Dec);11(4):218-222.
In 2004, the US Center for Disease Control (CDC) published a paper showing that there is no link between the age at which a child is vaccinated with MMR and the vaccinated children’s risk of a subsequent diagnosis of autism. One of the authors, William Thompson, has now revealed that statistically significant information was deliberately omitted from the paper. Thompson first told Dr S Hooker, a researcher on autism, about the manipulation of the data. Hooker analysed the raw data from the CDC study afresh. He confirmed that the risk of autism among African American children vaccinated before the age of 2 years was 340% that of those vaccinated later.
4. Esan F, Chester V, Gunaratna IJ, Hoare S, Alexander RT. {{The Clinical, Forensic and Treatment Outcome Factors of Patients with Autism Spectrum Disorder Treated in a Forensic Intellectual Disability Service}}. {J Appl Res Intellect Disabil};2014 (Nov 7)
BACKGROUND: To describe the characteristics of those with autism spectrum disorder (ASD) treated within a forensic intellectual disability hospital and to compare them with those without ASD. METHOD: Service evaluation of a cohort of 138 patients treated over a 6-year period. RESULTS: Of the 138, 42 had an ASD. Personality disorders and harmful use or dependence on drugs were significantly lower in the ASD group. The ASD group was less likely to be subject to criminal sections or restriction orders. Self-harm was significantly higher in the ASD group. There were no differences in the length of stay and direction of care pathway. CONCLUSIONS: Although the ASD and non-ASD groups differ on clinical and forensic characteristics, their treatment outcomes appear similar. This suggests that the diagnostic category of ASD alone may be inadequate in predicting the treatment outcome. There is a case to identify distinct typologies within the ASD group.
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5. Fayemi AK. {{Diagnosis of autism, abortion and the ethics of childcare in Yoruba culture}}. {Indian J Med Ethics};2014 (Oct-Dec);11(4):245-248.
This paper examines the ethics of childcare in Yoruba culture in the contexts of autism and abortion. The traditional Yoruba moral principles of ibikojuibi (equality of humans at birth) and ajowapo (solidarity) have been theoretically developed to establish the personhood of autistic children and provide a justification for not aborting foetuses with autism. Despite these justifications, this paper argues that there is a need for contextual rethinking, which would allow for: (i) prenatal genetic testing, as well as abortion of foetuses with a high risk of the autism mutation, and (ii) early clinical diagnosis and treatment of autistic children in contemporary Yoruba society.
6. Finn L, Ramasamy R, Dukes C, Scott J. {{Using WatchMinder to Increase the On-Task Behavior of Students with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Nov 7)
This study assessed the use of WatchMinder, a vibrating prompt watch, and self-graphing on the on-task behavior of students with autism spectrum disorder in an elementary special education setting. Using a multiple baseline across subjects design, results showed an immediate increase in on-task behavior when the intervention was introduced. Participants maintained high levels of on-task behavior during the follow-up phase. Implications for expanded self-monitoring treatment packages are discussed.
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7. Gebauer L, Skewes J, Horlyck L, Vuust P. {{Atypical perception of affective prosody in Autism Spectrum Disorder}}. {Neuroimage Clin};2014;6:370-378.
Autism Spectrum Disorder (ASD) is characterized by impairments in language and social-emotional cognition. Yet, findings of emotion recognition from affective prosody in individuals with ASD are inconsistent. This study investigated emotion recognition and neural processing of affective prosody in high-functioning adults with ASD relative to neurotypical (NT) adults. Individuals with ASD showed mostly typical brain activation of the fronto-temporal and subcortical brain regions in response to affective prosody. Yet, the ASD group showed a trend towards increased activation of the right caudate during processing of affective prosody and rated the emotional intensity lower than NT individuals. This is likely associated with increased attentional task demands in this group, which might contribute to social-emotional impairments.
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8. Gong X, Wang Y, Zeng J, Li S, Luo Y. {{Computational Identification and Experimental Validation of MicroRNAs Binding to the Fragile X Syndrome Gene Fmr1}}. {Neurochem Res};2014 (Nov 7)
MicroRNAs (miRNAs) usually bind to their target mRNAs through imperfect base pairing in the 3′-untranslated regions (3′ UTRs) and regulate target gene expression via post-transcriptional suppression. In recent years, computational approaches to predict miRNA targets have facilitated the identification of potential target sites. In this study, we used three programs TargetScan, miRDB and miRanda to predict potential miRNA binding sites to the fragile X gene Fmr1 and picked out 61 miRNAs which were predicted by all three programs for further investigation. Excitingly, 5 out of these miRNAs, miR-23a, miR-32, miR-124, miR-335-5p and miR-350, were experimentally verified by luciferase reporter assays. Furthermore, overexpression of miR-124 in mouse embryonic neural progenitor cells (eNPC) could not only significantly reduce Fmr1 level, but also increase Cdk4 and cyclin D1 levels which coincidently promoted eNPC proliferation. Our results imply that miR-124 plays an important role in the proliferation of mouse embryonic stem cells by promoting Cdk4 and cyclin D1 expression through directly inhibiting Fmr1 expression.
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9. Graham SA, Abbott AE, Nair A, Lincoln AJ, Muller RA, Goble DJ. {{The Influence of Task Difficulty and Participant Age on Balance Control in ASD}}. {J Autism Dev Disord};2014 (Nov 8)
Impairments in sensorimotor integration are reported in Autism Spectrum Disorder (ASD). Poor control of balance in challenging balance tasks is one suggested manifestation of these impairments, and is potentially related to ASD symptom severity. Reported balance and symptom severity relationships disregard age as a potential covariate, however, despite its involvement in balance development. We tested balance control during increasingly difficult balance conditions in children with ASD and typically developing peers, and investigated relationships between balance control and diagnostic/symptom severity metrics for participants with ASD, including age as a covariate. Balance deficits in ASD were exacerbated by stance alterations, but were not related to symptom severity when age was considered. These findings support impaired balance in ASD, especially in challenging conditions, but question a link between balance and symptom severity.
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10. Hormozdiari F, Penn O, Borenstein E, Eichler E. {{The discovery of integrated gene networks for autism and related disorders}}. {Genome Res};2014 (Nov 5)
Despite considerable genetic heterogeneity underlying neurodevelopmental diseases, there is compelling evidence that many disease genes will map to a much smaller number of biological subnetworks. We developed a computational method, termed MAGI (Merging Affected Genes into Integrated-networks), that simultaneously integrates protein-protein interaction and RNA-seq expression profiles during brain development to discover ‘modules’ enriched for de novo mutations in probands. We applied this method to recent exome sequencing of 1116 autism and intellectual disability patients discovering two distinct modules that differ in their properties and associated phenotypes. The first module consists of 80 genes associated with Wnt, Notch, SWI/SNF and NCOR complexes and shows the highest expression early during embryonic development (8-16 post-conception weeks, pcw). The second module consists of 24 genes associated with synaptic function, including long-term potentiation and calcium signaling with higher levels of postnatal expression. Patients with de novo mutations in these modules are more significantly intellectually impaired and carry more severe missense mutations when compared to probands with de novo mutations outside of these modules. We used our approach to define subsets of the network associated with higher functioning autism as well as greater severity with respect to IQ. Finally, we applied MAGI independently to epilepsy and schizophrenia exome sequencing cohorts and find significant overlap as well as expansion of these modules suggesting a core set of integrated neurodevelopmental networks common to seemingly diverse human diseases.
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11. Nottingham CL, Vladescu JC, Kodak TM. {{Incorporating additional targets into learning trials for individuals with autism spectrum disorder}}. {J Appl Behav Anal};2014 (Nov 6)
Recently, researchers have investigated the effectiveness and efficiency of presenting secondary targets during learning trials for individuals with autism spectrum disorder (ASD). This instructional method may be more efficient than typical methods used with learners with ASD, because learners may acquire secondary targets without additional instruction. This review will discuss the recent literature on providing secondary targets during teaching trials for individuals with ASD, identify common aspects and results among these studies, and identify areas for future research.
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12. Pryweller JR, Schauder KB, Anderson AW, Heacock JL, Foss-Feig JH, Newsom CR, Loring WA, Cascio CJ. {{White matter correlates of sensory processing in autism spectrum disorders}}. {Neuroimage Clin};2014;6:379-387.
Autism spectrum disorder (ASD) has been characterized by atypical socio-communicative behavior, sensorimotor impairment and abnormal neurodevelopmental trajectories. DTI has been used to determine the presence and nature of abnormality in white matter integrity that may contribute to the behavioral phenomena that characterize ASD. Although atypical patterns of sensory responding in ASD are well documented in the behavioral literature, much less is known about the neural networks associated with aberrant sensory processing. To address the roles of basic sensory, sensory association and early attentional processes in sensory responsiveness in ASD, our investigation focused on five white matter fiber tracts known to be involved in these various stages of sensory processing: superior corona radiata, centrum semiovale, inferior longitudinal fasciculus, posterior limb of the internal capsule, and splenium. We acquired high angular resolution diffusion images from 32 children with ASD and 26 typically developing children between the ages of 5 and 8. We also administered sensory assessments to examine brain-behavior relationships between white matter integrity and sensory variables. Our findings suggest a modulatory role of the inferior longitudinal fasciculus and splenium in atypical sensorimotor and early attention processes in ASD. Increased tactile defensiveness was found to be related to reduced fractional anisotropy in the inferior longitudinal fasciculus, which may reflect an aberrant connection between limbic structures in the temporal lobe and the inferior parietal cortex. Our findings also corroborate the modulatory role of the splenium in attentional orienting, but suggest the possibility of a more diffuse or separable network for social orienting in ASD. Future investigation should consider the use of whole brain analyses for a more robust assessment of white matter microstructure.
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13. Sharda M, Midha R, Malik S, Mukerji S, Singh NC. {{Fronto-Temporal Connectivity is Preserved During Sung but Not Spoken Word Listening, Across the Autism Spectrum}}. {Autism Res};2014 (Nov 5)
Co-occurrence of preserved musical function with language and socio-communicative impairments is a common but understudied feature of Autism Spectrum Disorders (ASD). Given the significant overlap in neural organization of these processes, investigating brain mechanisms underlying speech and music may not only help dissociate the nature of these auditory processes in ASD but also provide a neurobiological basis for development of interventions. Using a passive-listening functional magnetic resonance imaging paradigm with spoken words, sung words and piano tones, we found that 22 children with ASD, with varying levels of functioning, activated bilateral temporal brain networks during sung-word perception, similarly to an age and gender-matched control group. In contrast, spoken-word perception was right-lateralized in ASD and elicited reduced inferior frontal gyrus (IFG) activity which varied as a function of language ability. Diffusion tensor imaging analysis reflected reduced integrity of the left hemisphere fronto-temporal tract in the ASD group and further showed that the hypoactivation in IFG was predicted by integrity of this tract. Subsequent psychophysiological interactions revealed that functional fronto-temporal connectivity, disrupted during spoken-word perception, was preserved during sung-word listening in ASD, suggesting alternate mechanisms of speech and music processing in ASD. Our results thus demonstrate the ability of song to overcome the structural deficit for speech across the autism spectrum and provide a mechanistic basis for efficacy of song-based interventions in ASD. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Tsheringla S, Minju KA, Russell S, Mammen P, Russell PS, Nair MK. {{A Meta-analysis of the Diagnostic Accuracy of Autism Diagnostic Observation Schedule Module-1 for Autism Spectrum Disorders}}. {Indian J Pediatr};2014 (Nov 7)
OBJECTIVE: Autism Diagnostic Observation Schedule (ADOS) is considered gold standard for the diagnosis of Autism Spectrum Disorders (ASD). The authors evaluated the cumulative diagnostic accuracy of ADOS-Module 1 (ADOSM1) using the original diagnostic algorithm with meta-analysis and meta-regression. METHODS: The authors, electronically and manually searched for studies from 1999 to 2013 that evaluated the accuracy of ADOSM1 using the original diagnostic algorithm in detecting ASD. Primary results of Sensitivity (Sn), Specificity (Sp) and Diagnostic Odds Ratio (DOR) for ADOSM1 were summarized using random-effects model. Summary Receiver Operating characteristic Curves and its Area Under the Curve (SROC-AUC) were used to summarize overall diagnostic accuracy of ADOSM1. The modifying effects of quality of study and sample size, on the diagnostic odds ratio, were investigated using meta-regression. RESULTS: A total of 7 cross-sectional studies provided data on 4,057 children. The pooled Sn, Sp, DOR and SROC-AUC for the overall diagnostic accuracy of ADOSM1 were: 0.91 (95 % CI = 0.88 to 0.93), 0.27 (95 % CI = 0.24 to 0.30), 5.40 (95 % CI = 1.51 to 19.23) and 0.52 respectively. Meta-regression analysis showed a non-significant relationship between ADOSM1 and study quality as well as sample size. There were subgroup differences in the DOR. CONCLUSIONS: The authors conclude that ADOSM1 with the original diagnostic algorithm lacks overall diagnostic accuracy and pooled specificity to confirm the diagnosis of Autism Spectrum Disorders. ADOSM1 with the revised diagnostic algorithm should be used instead for the diagnosis of this group of disorders.
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15. West PR, Amaral DG, Bais P, Smith AM, Egnash LA, Ross ME, Palmer JA, Fontaine BR, Conard KR, Corbett BA, Cezar GG, Donley EL, Burrier RE. {{Metabolomics as a tool for discovery of biomarkers of autism spectrum disorder in the blood plasma of children}}. {PLoS One};2014;9(11):e112445.
BACKGROUND: The diagnosis of autism spectrum disorder (ASD) at the earliest age possible is important for initiating optimally effective intervention. In the United States the average age of diagnosis is 4 years. Identifying metabolic biomarker signatures of ASD from blood samples offers an opportunity for development of diagnostic tests for detection of ASD at an early age. OBJECTIVES: To discover metabolic features present in plasma samples that can discriminate children with ASD from typically developing (TD) children. The ultimate goal is to identify and develop blood-based ASD biomarkers that can be validated in larger clinical trials and deployed to guide individualized therapy and treatment. METHODS: Blood plasma was obtained from children aged 4 to 6, 52 with ASD and 30 age-matched TD children. Samples were analyzed using 5 mass spectrometry-based methods designed to orthogonally measure a broad range of metabolites. Univariate, multivariate and machine learning methods were used to develop models to rank the importance of features that could distinguish ASD from TD. RESULTS: A set of 179 statistically significant features resulting from univariate analysis were used for multivariate modeling. Subsets of these features properly classified the ASD and TD samples in the 61-sample training set with average accuracies of 84% and 86%, and with a maximum accuracy of 81% in an independent 21-sample validation set. CONCLUSIONS: This analysis of blood plasma metabolites resulted in the discovery of biomarkers that may be valuable in the diagnosis of young children with ASD. The results will form the basis for additional discovery and validation research for 1) determining biomarkers to develop diagnostic tests to detect ASD earlier and improve patient outcomes, 2) gaining new insight into the biochemical mechanisms of various subtypes of ASD 3) identifying biomolecular targets for new modes of therapy, and 4) providing the basis for individualized treatment recommendations.
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16. Zhou P, Crain S, Gao L, Tang Y, Jia M. {{The Use of Grammatical Morphemes by Mandarin-Speaking Children with High Functioning Autism}}. {J Autism Dev Disord};2014 (Nov 8)
The present study investigated the production of grammatical morphemes by Mandarin-speaking children with high functioning autism. Previous research found that a subgroup of English-speaking children with autism exhibit deficits in the use of grammatical morphemes that mark tense. In order to see whether this impairment in grammatical morphology can be generalised to children with autism from other languages, the present study examined whether or not high-functioning Mandarin-speaking children with autism also exhibit deficits in using grammatical morphemes that mark aspect. The results show that Mandarin-speaking children with autism produced grammatical morphemes significantly less often than age-matched and IQ-matched TD peers as well as MLU-matched TD peers. The implications of these findings for understanding the grammatical abilities of children with autism were discussed.
