1. Al Shirian S, Al Dera H. {{Descriptive characteristics of children with autism at Autism Treatment Center, KSA}}. {Physiol Behav};2015 (Sep 5);151:604-608.
Autism characteristics in sixty children (aged from 2 to 8) were assed. Their behavioral symptoms were evaluated using the Autism Treatment Evaluation Checklist (ATEC). ATEC has four main domains of autistic disorders (Speech/Language/Communication, Sociability, Sensory/Cognitive Awareness, and Health/Physical/Behavior) in children with clinical diagnosis by Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) and Childhood Autism Rating Scale (CARS) of autism spectrum disorder (ASD). Utilizing ATEC checklist, our study describes significant behavioral observations between autistic children which could effectively contribute to better understanding and treatment during their early intervention stage.
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2. Balardin JB, Comfort WE, Daly E, Murphy C, Andrews D, Murphy DG, Ecker C, Sato JR. {{Decreased centrality of cortical volume covariance networks in autism spectrum disorders}}. {J Psychiatr Res};2015 (Oct);69:142-149.
Autism spectrum disorders (ASD) are a group of neurodevelopmental conditions characterized by atypical structural and functional brain connectivity. Complex network analysis has been mainly used to describe altered network-level organization for functional systems and white matter tracts in ASD. However, atypical functional and structural connectivity are likely to be also linked to abnormal development of the correlated structure of cortical gray matter. Such covariations of gray matter are particularly well suited to the investigation of the complex cortical pathology of ASD, which is not confined to isolated brain regions but instead acts at the systems level. In this study, we examined network centrality properties of gray matter networks in adults with ASD (n = 84) and neurotypical controls (n = 84) using graph theoretical analysis. We derived a structural covariance network for each group using interregional correlation matrices of cortical volumes extracted from a surface-based parcellation scheme containing 68 cortical regions. Differences between groups in closeness network centrality measures were evaluated using permutation testing. We identified several brain regions in the medial frontal, parietal and temporo-occipital cortices with reductions in closeness centrality in ASD compared to controls. We also found an association between an increased number of autistic traits and reduced centrality of visual nodes in neurotypicals. Our study shows that ASD are accompanied by atypical organization of structural covariance networks by means of a decreased centrality of regions relevant for social and sensorimotor processing. These findings provide further evidence for the altered network-level connectivity model of ASD.
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3. Bean Ellawadi A, McGregor KK. {{Children with ASD can use gaze to map new words}}. {Int J Lang Commun Disord};2015 (Sep 6)
BACKGROUND: The conclusion that children with autism spectrum disorders (ASD) do not use eye gaze in the service of word learning is based on one-trial studies. AIMS: To determine whether children with ASD come to use gaze in the service of word learning when given multiple trials with highly reliable eye-gaze cues. METHODS & PROCEDURES: Fifteen children with ASD with a mean age of 59 months (range = 36-92 months) and 15 typically developing (TD) peers with a mean age of 37 months (range = 16-92 months), and matched to the ASD group on receptive vocabulary raw scores, participated in four conditions formed by crossing-gaze load (high versus low) and attention load (high versus low). The high eye-gaze load condition required the children to shift attention to the examiner and follow her gaze to fast map new words correctly. The low-gaze load did not require shift and follow behaviours. The high-attention condition involved three (as opposed to one) distracter objects. OUTCOMES & RESULTS: As compared with the TD group, a lower proportion of the ASD group shifted and followed the examiner on the initial trial of the high-gaze load condition, but there was not a significant difference between groups when shift and follow behaviours were averaged over subsequent trials, nor was there a difference between groups in fast-mapping performance. Fast-mapping outcomes were correlated with gaze shift and follow behaviours in the high-gaze load condition. CONCLUSIONS & IMPLICATIONS: The finding that the children with ASD altered their looking behaviour over the course of the experiment suggests that children with ASD were sensitive to statistical regularities present in the examiner’s gaze cues and used this information to alter their looking behaviour over the course of the experiment.
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4. Been LE, Moore KM, Kennedy BC, Meisel RL. {{Metabotropic Glutamate Receptor and Fragile X Signaling in a Female Model of Escalated Aggression}}. {Biol Psychiatry};2015 (Aug 7)
BACKGROUND: Escalated aggression is a behavioral sign of numerous psychiatric disorders characterized by a loss of control. The neurobiology underlying escalated aggression is unknown and is particularly understudied in females. Research in our laboratory demonstrated that repeated aggressive experience in female hamsters resulted in an escalated response to future aggressive encounters and an increase in dendritic spine density on nucleus accumbens (NAc) neurons. We hypothesized that the activation of group I metabotropic glutamate receptor signaling though the fragile X mental retardation protein (FMRP) pathway may underlie synaptic plasticity associated with aggression escalation. METHODS: Female hamsters were given five daily aggression tests with or without prior treatment with the metabotropic glutamate receptor 5 (mGluR5) antagonist 2-methyl-6-(phenylethynyl)-pyridine. Following aggression testing, messenger RNA expression and protein levels were measured in the nucleus accumbens for postsynaptic density protein 95 (PSD-95) and SAP90/PSD-95-associated protein 3, as well as the levels of phosphorylated FMRP. RESULTS: Experience-dependent escalation of aggression in female hamsters depends on activation of mGluR5 receptors. Furthermore, aggressive experience decreases phosphorylation of FMRP in the NAc, which is coupled to a long-term increase in the expression of the synaptic scaffolding proteins PSD-95 and SAP90/PSD-95-associated protein 3. Finally, the experience-dependent increase in PSD-95 is prevented by antagonism of the mGluR5 receptor. CONCLUSIONS: Activation of the FMRP pathway by group I metabotropic glutamate receptors is involved in regulating synaptic plasticity following aggressive experience. The NAc is a novel target for preclinical studies of the treatment of escalated aggression, with the added benefit that emerging therapeutic approaches are likely to be effective in treating pathologic aggression in both female and male subjects.
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5. Carminati GG, Gerber F, Darbellay B, Kosel MM, Deriaz N, Chabert J, Fathi M, Bertschy G, Ferrero F, Carminati F. {{Using venlafaxine to treat behavioral disorders in patients with autism spectrum disorder}}. {Prog Neuropsychopharmacol Biol Psychiatry};2015 (Sep 8)
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6. Charman T. {{The new genetics of autism: a translational opportunity?}}. {Lancet Psychiatry};2015 (Sep 2)
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7. Hyman SL, Stewart PA, Foley J, Cain U, Peck R, Morris DD, Wang H, Smith T. {{The Gluten-Free/Casein-Free Diet: A Double-Blind Challenge Trial in Children with Autism}}. {J Autism Dev Disord};2015 (Sep 5)
To obtain information on the safety and efficacy of the gluten-free/casein-free (GFCF) diet, we placed 14 children with autism, age 3-5 years, on the diet for 4-6 weeks and then conducted a double-blind, placebo-controlled challenge study for 12 weeks while continuing the diet, with a 12-week follow-up. Dietary challenges were delivered via weekly snacks that contained gluten, casein, gluten and casein, or placebo. With nutritional counseling, the diet was safe and well-tolerated. However, dietary challenges did not have statistically significant effects on measures of physiologic functioning, behavior problems, or autism symptoms. Although these findings must be interpreted with caution because of the small sample size, the study does not provide evidence to support general use of the GFCF diet.
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8. Keith JM, Bennetto L, Rogge RD. {{The relationship between contact and attitudes: Reducing prejudice toward individuals with intellectual and developmental disabilities}}. {Res Dev Disabil};2015 (Sep 2);47:14-26.
Increases in intellectual and developmental disability (IDD) diagnoses coupled with higher rates of inclusion in school and community settings, has created more opportunities for exposure and integration between those with IDD and the mainstream population. Previous research has found that increased contact can lead to more positive attitudes toward those with IDD. The current study further investigated this impact of contact on attitudes by examining the influence of the quality and quantity of contact on both explicit and implicit levels of prejudice, while also considering potential mediation via intergroup anxiety and implicit attitudes. Based on past research and theory, we predicted that contact (especially quality contact) would have a strong relationship with explicit and implicit positive attitudes toward individuals with IDD. In the present study, 550 people completed a survey and short task that measured their level of contact with individuals with IDD across their lifetime, their current attitudes toward these individuals, and other constructs that are thought to influence this relationship. Multiple regression analyses suggested consistent links between higher quality of contact and lower levels of prejudice toward individuals with IDD at both the explicit and implicit levels. After controlling for quality of contact, higher quantity of contact was either not significantly associated with our measures of prejudice or was, importantly, associated with higher levels of prejudice. Additional analyses support intergroup anxiety and implicit positive attitudes as significant mediators in the associations between quality of contact and the various dimensions of explicit prejudice. Thus, it would seem that it is the quality of interpersonal interactions that is most strongly related to positive attitudes toward individuals with IDD, making it crucial to take care when developing inclusion opportunities in community settings.
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9. LeBarton ES, Iverson JM. {{Gesture development in toddlers with an older sibling with autism}}. {Int J Lang Commun Disord};2015 (Sep 6)
BACKGROUND: Nonverbal communication deficits are characteristic of autism spectrum disorder (ASD) and have been reported in some later-born siblings of children with ASD (heightened-risk (HR) children). However, little work has investigated gesture as a function of language ability, which varies greatly in this population. AIMS: This longitudinal study characterizes gesture in HR children and examines differences related to diagnostic outcome (ASD, language delay, no diagnosis) and age. METHODS & PROCEDURES: We coded communicative gesture use for 29 HR children at ages 2 and 3 years during interactions with a caregiver at home. OUTCOMES & RESULTS: Children in the ASD group produced fewer gestures than their HR peers at 2 years, though large individual differences were observed within each subgroup at both ages. In addition, reliance on particular types of gestures varied with age and outcome. Both ASD and language delay children exhibited a pattern of reduced pointing relative to their no diagnosis peers. CONCLUSIONS & IMPLICATIONS: Similarities and differences exist between communication in HR infants with language delay and their HR peers, reinforcing our understanding of links between verbal and nonverbal communication in populations at risk for language delay.
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10. Sharer E, Crocetti D, Muschelli J, Barber AD, Nebel MB, Caffo BS, Pekar JJ, Mostofsky SH. {{Neural Correlates of Visuomotor Learning in Autism}}. {J Child Neurol};2015 (Sep 8)
Motor impairments are prevalent in children with autism spectrum disorder. The Serial Reaction Time Task, a well-established visuomotor sequence learning probe, has produced inconsistent behavioral findings in individuals with autism. Moreover, it remains unclear how underlying neural processes for visuomotor learning in children with autism compare to processes for typically developing children. Neural activity differences were assessed using functional magnetic resonance imaging during a modified version of the Serial Reaction Time Task in children with and without autism. Though there was no group difference in visuomotor sequence learning, underlying patterns of neural activation significantly differed when comparing sequence (ie, learning) to random (ie, nonlearning) blocks. Children with autism demonstrated decreased activity in brain regions implicated in visuomotor sequence learning: superior temporal sulcus and posterior cingulate cortex. The findings implicate differences in brain mechanisms that support initial sequence learning in autism and can help explain behavioral observations of autism-associated impairments in skill development (motor, social, communicative) reliant on visuomotor integration.
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11. Stamova B, Ander BP, Barger N, Sharp FR, Schumann CM. {{Specific Regional and Age-Related SmallNoncoding RNA Expression Patterns Within Superior Temporal Gyrus of Typical Human Brains Are Less Distinct in Autism Brains}}. {J Child Neurol};2015 (Sep 8)
Small noncoding RNAs play a critical role in regulating messenger RNA throughout brain development and when altered could have profound effects leading to disorders such as autism spectrum disorders (ASD). We assessed small noncoding RNAs, including microRNA and small nucleolar RNA, in superior temporal sulcus association cortex and primary auditory cortex in typical and ASD brains from early childhood to adulthood. Typical small noncoding RNA expression profiles were less distinct in ASD, both between regions and changes with age. Typical micro-RNA coexpression associations were absent in ASD brains. miR-132, miR-103, and miR-320 micro-RNAs were dysregulated in ASD and have previously been associated with autism spectrum disorders. These diminished region- and age-related micro-RNA expression profiles are in line with previously reported findings of attenuated messenger RNA and long noncoding RNA in ASD brain. This study demonstrates alterations in superior temporal sulcus in ASD, a region implicated in social impairment, and is the first to demonstrate molecular alterations in the primary auditory cortex.
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12. Tang S, Wang Y, Gong X, Wang G. {{A Meta-Analysis of Maternal Smoking during Pregnancy and Autism Spectrum Disorder Risk in Offspring}}. {Int J Environ Res Public Health};2015;12(9):10418-10431.
The association between maternal smoking during pregnancy and autism spectrum disorder (ASD) risk in offspring has been investigated in several studies, but the evidence is not conclusive. We, therefore, conducted this meta-analysis to explore whether an association exists between maternal smoking during pregnancy and ASD risk in offspring. We searched PubMed, Embase, Web of Science, and the Cochrane Library for studies of maternal smoking during pregnancy and ASD risk in offspring up to 10 June 2015. The random-effects model was used to combine results from individual studies. 15 observational studies (6 cohort studies and 9 case-control studies), with 17,890 ASD cases and 1,810,258 participants were included for analysis. The pooled odds ratio (OR) was 1.02 (95% confidence interval (CI): 0.93-1.13) comparing mothers who smoked during pregnancy with those who did not. Subgroup and sensitivity analysis suggested the overall result of this analysis was robust. Results from this meta-analysis indicate that maternal smoking during pregnancy is not associated with ASD risk in offspring. Further well-designed cohort studies are needed to confirm the present findings.
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13. Tsujimura K, Irie K, Nakashima H, Egashira Y, Fukao Y, Fujiwara M, Itoh M, Uesaka M, Imamura T, Nakahata Y, Yamashita Y, Abe T, Takamori S, Nakashima K. {{miR-199a Links MeCP2 with mTOR Signaling and Its Dysregulation Leads to Rett Syndrome Phenotypes}}. {Cell Rep};2015 (Sep 2)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by MECP2 mutations. Although emerging evidence suggests that MeCP2 deficiency is associated with dysregulation of mechanistic target of rapamycin (mTOR), which functions as a hub for various signaling pathways, the mechanism underlying this association and the molecular pathophysiology of RTT remain elusive. We show here that MeCP2 promotes the posttranscriptional processing of particular microRNAs (miRNAs) as a component of the microprocessor Drosha complex. Among the MeCP2-regulated miRNAs, we found that miR-199a positively controls mTOR signaling by targeting inhibitors for mTOR signaling. miR-199a and its targets have opposite effects on mTOR activity, ameliorating and inducing RTT neuronal phenotypes, respectively. Furthermore, genetic deletion of miR-199a-2 led to a reduction of mTOR activity in the brain and recapitulated numerous RTT phenotypes in mice. Together, these findings establish miR-199a as a critical downstream target of MeCP2 in RTT pathogenesis by linking MeCP2 with mTOR signaling.
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14. Zhu Z, Li W, Zhan J, Hu L, Wu L. {{Adaptive behaviour of Chinese boys with fragile X syndrome}}. {J Intellect Disabil Res};2015 (Sep 6)
BACKGROUND: Adaptive behaviour is closely related to quality of life in children with intellectual disability (ID), but little is known about the adaptive behaviour of children with fragile X syndrome (FXS) in China. METHOD: In boys with FXS, the adaptive behaviours in six domains, including self-dependence, locomotion, work skills, communication, socialisation and self-management, were assessed by the Infants-Junior Middle School Students Social-life Abilities Scale. In addition, we compared the adaptive skills of boys with FXS to those of three control groups of boys, including boys with Down syndrome (DS) and typically developing (TD) boys matched by chronological age (CA) or mental age (MA). The profile of the adaptive behaviour of boys with FXS is discussed in detail. RESULTS: Compared to boys with DS, boys with FXS obtained lower scores in three domains in adaptive behaviour, including work skills, socialisation and self-management skills; boys with FXS had better scores in self-dependence and locomotion skills than boys matched for MA; as expected, boys with FXS had significantly poorer adaptive skills in all six domains assessed compared to CA boys. CONCLUSION: The development of adaptive skills in boys with FXS was worse than that of boys with DS. The profile of the adaptive behaviour of boys with FXS establishes a basis for the development of targeted interventions to promote social development in this population. (c) 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.