1. Batool SS, Khurshid S. {{Factors Associated with Stress Among Parents of Children with Autism}}. {J Coll Physicians Surg Pak};2015 (Oct);25(10):752-756.
OBJECTIVE: To determine the factors associated with stress among parents of children with autism. STUDY DESIGN: A cross-sectional field survey study. PLACE AND DURATION OF STUDY: Department of Psychology, GC University, Lahore, from September 2012 to November 2013. METHODOLOGY: The sample consisted of 100 parents (50 mothers and 50 fathers) of children with autism. Measures of childhood autism rating, sense of coherence, parenting self-efficacy, parenting stress, and demographic data sheet were completed by the parents in outdoor units of children hospital, institutes, and at their homes. RESULTS: Significant correlations were found between severity of impairment and parenting stress (r = .53, p < .01), between parenting self-efficacy and parenting stress (r = -.35, p < .01, and between sense of coherence and parenting stress (r = -.26, p < .05). No significant gender difference emerged in terms of parenting self-efficacy, sense of coherence, and parenting stress. Results of stepwise regression partially supported our hypothesized model, as severity of child impairment, and parenting self-efficacy appeared as significant predictors of parenting stress (R2 = .35). However, there was no evidence of role of demographic variables in the parenting stress. CONCLUSION: The severity of child’s impairment emerged as the most salient risk factor for parenting stress; however, it was concluded that parents’ ability and confidence in their competence of parenting a child in challenging situations may reduce their stress.
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2. Micalizzi L, Ronald A, Saudino KJ. {{A Genetically Informed Cross-Lagged Analysis of Autistic-Like Traits and Affective Problems in Early Childhood}}. {J Abnorm Child Psychol};2015 (Oct 12)
A genetically informed cross-lagged model was applied to twin data to explore etiological links between autistic-like traits and affective problems in early childhood. The sample comprised 310 same-sex twin pairs (143 monozygotic and 167 dizygotic; 53 % male). Autistic-like traits and affective problems were assessed at ages 2 and 3 using parent ratings. Both constructs were related within and across age (r = 0.30-0.53) and showed moderate stability (r = 0.45-0.54). Autistic-like traits and affective problems showed genetic and environmental influences at both ages. Whereas at age 2, the covariance between autistic-like traits and affective problems was entirely due to environmental influences (shared and nonshared), at age 3, genetic factors also contributed to the covariance between constructs. The stability paths, but not the cross-lagged paths, were significant, indicating that there is stability in both autistic-like traits and affective problems but they do not mutually influence each other across age. Stability effects were due to genetic, shared, and nonshared environmental influences. Substantial novel genetic and nonshared environmental influences emerge at age 3 and suggest change in the etiology of these constructs over time. During early childhood, autistic-like traits tend to occur alongside affective problems and partly overlapping genetic and environmental influences explain this association.
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3. Odriozola P, Uddin LQ, Lynch CJ, Kochalka J, Chen T, Menon V. {{Insula response and connectivity during social and non-social attention in children with autism}}. {Soc Cogn Affect Neurosci};2015 (Oct 9)
Autism spectrum disorder (ASD) is characterized by reduced attention to salient social stimuli. Here we use two visual oddball tasks to investigate brain systems engaged during attention to social (face) and non-social (scene) stimuli. We focused on the dorsal and ventral subdivisions of the anterior insula (dAI and vAI, respectively), anatomically distinct regions contributing to a ‘salience network’ that is known to regulate attention to behaviorally meaningful stimuli. Children with ASD performed comparably to their typically developing (TD) peers, but they engaged the right dAI and vAI differently in response to deviant faces compared with deviant scenes. Multivariate activation patterns in the dAI reliably discriminated between children with ASD and TD children with 85% classification accuracy, and children with ASD activated the vAI more than their TD peers. Children with ASD and their TD peers also differed in dAI connectivity patterns to deviant faces, with stronger within-salience network interactions in the ASD group and stronger cross-network interactions in the TD group. Our findings point to atypical patterns of right anterior insula activation and connectivity in ASD and suggest that multiple functions subserved by the insula, including attention and affective processing of salient social stimuli, are aberrant in children with the disorder.
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4. O’Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE. {{Detecting autonomic response to pain in Rett syndrome}}. {Dev Neurorehabil};2015 (Oct 12):1-7.
OBJECTIVE: To quantify pain response in girls affected by Rett syndrome (RTT) using electrodermal activity (EDA), a measure of skin conductance, reflecting sympathetic activity known to be modulated by physical and environmental stress. METHODS: EDA increase, heart rate (HR) increase and Face Legs Activity Cry Consolability (FLACC) values calculated during venipuncture (invasive) and vital signs collection (non-invasive) events were compared with values calculated during a prior baseline and a RTT clinical severity score (CSS). RESULTS: EDA and HR increase were significantly higher than baseline during venipuncture only and not significantly correlated with FLACC or CSS. EDA increase was the most sensitive measure of pain response. CONCLUSIONS: These preliminary findings revealed that motor impairment might bias non-verbal pain scales, underscore the importance of using autonomic measures when assessing pain and warrant further investigation into the utility of using EDA to objectively quantify RTT pain response to inform future RTT pain management.
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5. Sharpe K, Di Pietro N, Illes J. {{In the Know and in the News: How Science and the Media Communicate About Stem Cells, Autism and Cerebral Palsy}}. {Stem Cell Rev};2015 (Oct 10)
Stem cell research has generated considerable attention for its potential to remediate many disorders of the central nervous system including neurodevelopmental disorders such as autism spectrum disorder (ASD) and cerebral palsy (CP) that place a high burden on individual children, families and society. Here we characterized messaging about the use of stem cells for ASD and CP in news media articles and concurrent dissemination of discoveries through conventional science discourse. We searched LexisNexis and Canadian Newsstand for news articles from the US, UK, Canada and Australia in the period between 2000 and 2014, and PubMed for peer reviewed articles for the same 10 years. Using in-depth content analysis methods, we found less cautionary messaging about stem cells for ASD and CP in the resulting sample of 73 media articles than in the sample of 87 science papers, and a privileging of benefits over risk. News media also present stem cells as ready for clinical application to treat these neurodevelopmental disorders, even while the science literature calls for further research. Investigative news reports that explicitly quote researchers, however, provide the most accurate information to actual science news. The hope, hype, and promise of stem cell interventions for neurodevelopmental disorders, combined with the extreme vulnerability of these children and their families, creates a perfect storm in which journalists and stem cell scientists must commit to a continued, if not even more robust, partnership to promote balanced and accurate messaging.
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6. Tsuchiya Y, Minami Y, Umemura Y, Watanabe H, Ono D, Nakamura W, Takahashi T, Honma S, Kondoh G, Matsuishi T, Yagita K. {{Disruption of MeCP2 attenuates circadian rhythm in CRISPR/Cas9-based Rett syndrome model mouse}}. {Genes Cells};2015 (Oct 12)
Methyl-CpG-binding protein 2 (Mecp2) is an X-linked gene encoding a methylated DNA-binding nuclear protein which regulates transcriptional activity. The mutation of MECP2 in humans is associated with Rett syndrome (RTT), a neurodevelopmental disorder. Patients with RTT frequently show abnormal sleep patterns and sleep-associated problems, in addition to autistic symptoms, raising the possibility of circadian clock dysfunction in RTT. In this study, we investigated circadian clock function in Mecp2-deficient mice. We successfully generated both male and female Mecp2-deficient mice on the wild-type C57BL/6 background and PER2Luciferase (PER2Luc ) knock-in background using the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system. Generated Mecp2-deficient mice recapitulated reduced activity in mouse models of RTT, and their activity rhythms were diminished in constant dark conditions. Furthermore, real-time bioluminescence imaging showed that the amplitude of PER2Luc -driven circadian oscillation was significantly attenuated in Mecp2-deficient SCN neurons. On the other hand, in vitro circadian rhythm development assay using Mecp2-deficient mouse embryonic stem cells (ESCs) did not show amplitude changes of PER2Luc bioluminescence rhythms. Together, these results show that Mecp2 deficiency abrogates the circadian pacemaking ability of the SCN, which may be a therapeutic target to treat the sleep problems of patients with RTT.
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7. Zhang Z, Cao M, Chang CW, Wang C, Shi X, Zhan X, Birnbaum SG, Bezprozvanny I, Huber K, Wu JI. {{Autism-Associated Chromatin Regulator Brg1/SmarcA4 is Required for Synapse Development and MEF2-mediated Synapse Remodeling}}. {Mol Cell Biol};2015 (Oct 12)
Synapse development requires normal neuronal activities and the precise expression of synapse-related genes. Dysregulation of synaptic genes results in neurological diseases such as autism spectrum disorders (ASD). Mutations in genes encoding chromatin remodeling factor Brg1/SmarcA4 and its associated proteins are the genetic causes of several developmental diseases with neurological defects and autistic symptoms. Recent large-scale genomic studies predicted Brg1/SmarcA4 as one of the key nodes of the ASD gene network. We report that Brg1 deletion in early postnatal hippocampal neurons led to reduced dendritic spine density and maturation and impaired synapse activities. In developing mice, neuronal Brg1 deletion caused severe neurological defects. Gene expression analyses indicated that Brg1 regulates a significant number of genes known to be involved in synapse function and implicated in ASD. We found that Brg1 is required for dendritic spine/synapse elimination mediated by the ASD-associated transcription factor MEF2 and that Brg1 regulates the activity-induced expression of a specific subset of genes that overlap significantly with the targets of MEF2. Our analyses showed that Brg1 interacts with MEF2 and that MEF2 is required for Brg1 recruitment to target genes in response to neuron activation. Thus, Brg1 plays important roles both in synapse development/maturation and in MEF2-mediated synapse remodeling. Our study reveals specific functions of the epigenetic regulator Brg1 in synapse development and provides insights into its role in neurological diseases such as ASD.
