1. Acharya K, Schindler A. {{Developmental and behavioral pediatricians’ attitudes toward screening for fragile x}}. {Am J Intellect Dev Disabil};2013 (Jul);118(4):284-293.
Abstract Developmental and behavioral pediatricians (DBP) diagnose and care for children with fragile X syndrome. Their attitudes toward FMR1 newborn screening (NBS) and FMR1 carrier testing in childhood could highlight potential pitfalls with FMR1 NBS. We conducted a cross-sectional survey with an adjusted response rate of 61%. Among DBP, 74% supported universal FMR1 NBS, preferring to identify both full mutations and premutations. DBP also support FMR1 testing of asymptomatic siblings. Although DBP support testing for premutations at various points in the lifespan, DBP are not familiar with the array of fragile X-associated disorders (FXAD). Targeted educational interventions are needed to ensure that all health care providers have the knowledge and competence to consent and to counsel families on FXAD.
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2. Banerjee A, Romero-Lorenzo E, Sur M. {{MeCP2: Making sense of missense in Rett syndrome}}. {Cell Res};2013 (Aug 13)
Fine scale genomic regulation is critical for maintaining genomic integrity and is often disrupted in neurodevelopmental disorders. An intriguing new study reveals the intricate biochemical complexity of de novo post-translational modifications of MeCP2, including activity-dependent protein-protein interactions that ‘bridge’ the nuclear receptor co-repressor (NCoR) complex to chromatin and lead to alterations in gene expression that characterize Rett syndrome.
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3. Barry S, O’Sullivan EA, Toumba KJ. {{Barriers to dental care for children with autism spectrum disorder}}. {Eur Arch Paediatr Dent};2013 (Aug 14)
AIMS: This study examined the problems encountered by children with autism spectrum disorder (ASD), when accessing dental care. STUDY DESIGN: This was a cross-sectional, case-control questionnaire study. METHODS: A piloted questionnaire was developed to identify the main barriers to dental care experienced by patients with ASD in Hull and East Riding. The study group was comprised of parents/carers of children with ASD, and the control group was comprised of parents/carers of age matched healthy, neurotypical children. STATISTICS: Results were analysed using Chi-square and Fisher’s exact tests where appropriate. Significance was deemed at p < 0.05. Ordinal data was presented using medians and 25th and 75th centiles and compared using Mann-Whitney U test. METHODS: A piloted questionnaire was developed to identify the main barriers to dental care experienced by patients with ASD in Hull and East Riding. The study group was comprised of parents/carers of children with ASD, and the control group was comprised of parents/carers of age matched healthy, neurotypical children. RESULTS: 112 subjects completed the questionnaire. There was no significant difference in accessing dental care between study and control groups (p = 0.051), although access was perceived as more difficult in the ASD group (p < 0.001). There was a significantly greater perceived difficulty in travelling to the dental surgery in the ASD group. Predicted negative behaviours were more frequent in the ASD group. All suggested interventions were predicted to be helpful in a significantly greater proportion of the ASD group. CONCLUSION: Difficulties exist for children with ASD in accessing dental care in the Hull and East Riding area.
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4. Cook C. {{The autism spectrum}}. {Nursing};2013 (Jul);43(7):8.
5. Edalatmanesh MA, Nikfarjam H, Vafaee F, Moghadas M. {{Increased hippocampal cell density and enhanced spatial memory in the valproic acid rat model of autism}}. {Brain Res};2013 (Aug 14);1526:15-25.
Autism is characterized by behavioral impairments in three main domains: social interaction; language, communication and imaginative play; and the range of interests and activities. However, neuronal processing studies have suggested that hyper-perception, hyper-attention, and enhanced memory, which may lie at the heart of most autistic symptoms. Pregnant Wistar rats were administered by either Valproic Acid (VPA, 500mg/kg) or Phosphate Buffer Saline (PBS) during fetal neural tube development on embryonic day 12.5. All offspring were subjected to various tests. The present study examined social interaction, repetitive behaviors, nociception and tactile threshold, anxiety as well as spatial memory. Histological analyses of cells in five regions of the hippocampus were done to determine neuronal density in both groups. A single intra-peritoneal injection of VPA to pregnant rats produced severe autistic-like symptoms in the offspring. The results showed significant behavioral impairments such as a lower tendency to initiate social interactions, enhanced stereotyped, repetitive behaviors, increased nociception threshold and anxiety at postnatal day (PND) 30 and PND 60. The Morris water maze learning paradigm revealed enhanced spatial memory at PND 60. Furthermore, histological analysis showed that the neuronal density in five separate regions of hippocampus (CA1, CA2, CA3, Dentate gyrus and Subiculum) were increased at PND 67. This work suggests that early embryonic exposure to VPA in rats provides a good model for several specific aspects of autism and should help to continue to explore pathophysiological and neuroanatomical hypotheses. This study provides further evidence to support the notion that spatial memory and hippocampal cell density are increased in this animal model of autism.
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6. Gregory SG, Anthopolos R, Osgood CE, Grotegut CA, Miranda ML. {{Association of Autism With Induced or Augmented Childbirth in North Carolina Birth Record (1990-1998) and Education Research (1997-2007) Databases}}. {JAMA Pediatr};2013 (Aug 12)
IMPORTANCE One in 88 children in the United States is diagnosed as having autism spectrum disorder. Significant interest centers on understanding the environmental factors that may contribute to autism risk. OBJECTIVE To examine whether induced (stimulating uterine contractions prior to the onset of spontaneous labor) and/or augmented (increasing the strength, duration, or frequency of uterine contractions with spontaneous onset of labor) births are associated with increased odds of autism. DESIGN, SETTING, AND PARTICIPANTS We performed an epidemiological analysis using multivariable logistic regression modeling involving the North Carolina Detailed Birth Record and Education Research databases. The study featured 625 042 live births linked with school records, including more than 5500 children with a documented exceptionality designation for autism. EXPOSURES Induced or augmented births. MAIN OUTCOMES AND MEASURES Autism as assessed by exceptionality designations in child educational records. RESULTS Compared with children born to mothers who received neither labor induction nor augmentation, children born to mothers who were induced and augmented, induced only, or augmented only experienced increased odds of autism after controlling for potential confounders related to socioeconomic status, maternal health, pregnancy-related events and conditions, and birth year. The observed associations between labor induction/augmentation were particularly pronounced in male children. CONCLUSIONS AND RELEVANCE Our work suggests that induction/augmentation during childbirth is associated with increased odds of autism diagnosis in childhood. While these results are interesting, further investigation is needed to differentiate among potential explanations of the association including underlying pregnancy conditions requiring the eventual need to induce/augment, the events of labor and delivery associated with induction/augmentation, and the specific treatments and dosing used to induce/augment labor (eg, exogenous oxytocin and prostaglandins).
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7. Haffey A, Press C, O’Connell G, Chakrabarti B. {{Autistic Traits Modulate Mimicry of Social but not Nonsocial Rewards}}. {Autism Res};2013 (Aug 12)
Autism Spectrum Conditions (ASC) are associated with diminished responsiveness to social stimuli, and especially to social rewards such as smiles. Atypical responsiveness to social rewards, which reinforce socially appropriate behavior in children, can potentially lead to a cascade of deficits in social behavior. Individuals with ASC often show diminished spontaneous mimicry of social stimuli in a natural setting. In the general population, mimicry is modulated both by the reward value and the sociality of the stimulus (i.e., whether the stimulus is perceived to belong to a conspecific or an inanimate object). Since empathy and autistic traits are distributed continuously in the general population, this study aimed to test if and how these traits modulated automatic mimicry of rewarded social and nonsocial stimuli. High and low rewards were associated with human and robot hands using a conditioned learning paradigm. Thirty-six participants from the general population then completed a mimicry task involving performing a prespecified hand movement which was either compatible or incompatible with a hand movement presented to the participant. High autistic traits (measured using the Autism Spectrum Quotient, AQ) predicted lesser mimicry of high-reward than low-reward conditioned human hands, whereas trait empathy showed an opposite pattern of correlations. No such relations were observed for high-reward vs. low-reward conditioned robot hands. These results demonstrate how autistic traits and empathy modulate the effects of reward on mimicry of social compared to nonsocial stimuli. This evidence suggests a potential role for the reward system in underlying the atypical social behavior in individuals with ASC, who constitute the extreme end of the spectrum of autistic traits. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Hassanpour S, MJ OC, Das AK. {{A semantic-based method for extracting concept definitions from scientific publications: evaluation in the autism phenotype domain}}. {J Biomed Semantics};2013 (Aug 12);4(1):14.
BACKGROUND: A variety of informatics approaches have been developed that use information retrieval, NLP and text-mining techniques to identify biomedical concepts and relations within scientific publications or their sentences. These approaches have not typically addressed the challenge of extracting more complex knowledge such as biomedical definitions. In our efforts to facilitate knowledge acquisition of rule-based definitions of autism phenotypes, we have developed a novel semantic-based text-mining approach that can automatically identify such definitions within text. RESULTS: Using an existing knowledge base of 156 autism phenotype definitions and an annotated corpus of 26 source articles containing such definitions, we evaluated and compared the average rank of correctly identified rule definition or corresponding rule template using both our semantic-based approach and a standard term-based approach. We examined three separate scenarios: (1) the snippet of text contained a definition already in the knowledge base; (2) the snippet contained an alternative definition for a concept in the knowledge base; and (3) the snippet contained a definition not in the knowledge base. Our semantic-based approach had a higher average rank than the term-based approach for each of the three scenarios (scenario 1: 3.8 vs. 5.0; scenario 2: 2.8 vs. 4.9; and scenario 3: 4.5 vs. 6.2), with each comparison significant at the p-value of 0.05 using the Wilcoxon signed-rank test. CONCLUSIONS: Our work shows that leveraging existing domain knowledge in the information extraction of biomedical definitions significantly improves the correct identification of such knowledge within sentences. Our method can thus help researchers rapidly acquire knowledge about biomedical definitions that are specified and evolving within an ever-growing corpus of scientific publications.
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9. Ingersoll B, Walton K, Carlsen D, Hamlin T. {{Social intervention for adolescents with autism and significant intellectual disability: initial efficacy of reciprocal imitation training}}. {Am J Intellect Dev Disabil};2013 (Jul);118(4):247-261.
Abstract Individuals with autism have difficulty with social skills across the lifespan. Few social interventions have been examined for older individuals with autism who also have significant intellectual disabilities (ID). Previous research suggests that reciprocal imitation training (RIT) improves imitation and social engagement in young children with autism. This study used a multiple-baseline design to examine whether RIT could improve social behaviors in four adolescents with autism and significant ID. All adolescents improved their spontaneous imitation and two improved their joint engagement. In addition, two adolescents decreased their rate of self-stimulatory behaviors over the course of treatment. Overall, these results suggest that RIT may be effective at improving social interaction and decreasing self-stimulatory behavior in adolescents with autism and significant ID.
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10. Kenworthy L, Yerys BE, Weinblatt R, Abrams DN, Wallace GL. {{Motor Demands Impact Speed of Information Processing in Autism Spectrum Disorders}}. {Neuropsychology};2013 (Aug 12)
The apparent contradiction between preserved or even enhanced perceptual processing speed on inspection time tasks in autism spectrum disorders (ASD) and impaired performance on complex processing speed tasks that require motor output (e.g., Wechsler Processing Speed Index) has not yet been systematically investigated. This study investigates whether adding motor output demands to an inspection time task impairs ASD performance compared to that of typically developing control (TDC) children. The performance of children with ASD (n = 28; mean Full Scale IQ (FSIQ) = 115) and TDC (n = 25; mean FSIQ = 122) children was compared on processing speed tasks with increasing motor demand. Correlations were run between ASD task performance and Autism Diagnostic Observation Schedule (ADOS) Communication scores. Performance by the ASD and TDC groups on a simple perceptual processing speed task with minimal motor demand was equivalent, though it diverged (ASD worse than TDC) on 2 tasks with the same stimuli but increased motor output demands. ASD performance on the moderate but not the high speeded motor output demand task was negatively correlated with ADOS communication symptoms. These data address the apparent contradiction between preserved inspection time in the context of slowed « processing speed » in ASD. They show that processing speed is preserved when motor demands are minimized, but that increased motor output demands interfere with the ability to act on perceptual processing of simple stimuli. Reducing motor demands (e.g., through the use of computers) may increase the capacity of people with ASD to demonstrate good perceptual processing in a variety of educational, vocational, and social settings. (PsycINFO Database Record (c) 2013 APA, all rights reserved).
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11. Moss J, Howlin P, Hastings RP, Beaumont S, Griffith GM, Petty J, Tunnicliffe P, Yates R, Villa D, Oliver C. {{Social behavior and characteristics of autism spectrum disorder in angelman, cornelia de lange, and cri du chat syndromes}}. {Am J Intellect Dev Disabil};2013 (Jul);118(4):262-283.
Abstract We evaluated autism spectrum disorder (ASD) characteristics and social behavior in Angelman (AS; n = 19; mean age = 10.35 years), Cornelia de Lange (CdLS; n = 15; mean age = 12.40 years), and Cri du Chat (CdCS, also known as 5 p-syndrome; n = 19; mean age = 8.80 years) syndromes. The proportion of individuals meeting the ASD cutoff on the Social Communication Questionnaire was significantly higher in the AS and CdLS groups than in the CdCS group (p < .01). The groups demonstrated divergent social behavior profiles during social conditions in which adult availability, adult familiarity, and social demand were manipulated. Social enjoyment was significantly heightened in AS, whereas social approaches were heightened in individuals with CdCS. Social motivation, social communication, and enjoyment were significantly lower in CdLS. The findings highlight the importance of detailed observation when evaluating ASD and social behavior in genetic syndromes.
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12. Saito Y, Suga M, Tochigi M, Abe O, Yahata N, Kawakubo Y, Liu X, Kawamura Y, Sasaki T, Kasai K, Yamasue H. {{Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene}}. {Soc Cogn Affect Neurosci};2013 (Aug 14)
Sub-clinical autistic-like traits (ALTs) are continuously distributed in the general population and genetically linked to autism. Although identifying the neurogenetic backgrounds of ALTs might enhance our ability to identify those of autism, they are largely unstudied. Here, we have examined the neuroanatomical basis of ALTs and their association with the oxytocin receptor gene (OXTR) rs2254298A, a known risk allele for autism in Asian populations which has also been implicated in limbic-paralimbic brain structures. First, we extracted a four-factor structure of ALTs, as measured using the Autism-Spectrum Quotient, including « Prosociality », « Communication », « Details/patterns » and « Imagination » in 135 neurotypical adults (79 men, 56 women) to reduce the genetic heterogeneity of ALTs. Then, in the same population, voxel-based morphometry revealed that lower « Prosociality », which indicates strong ALTs, was significantly correlated with smaller regional gray matter volume in the right insula in males. Males with lower « Prosociality » also had less interregional structural coupling between the right insula and the ventral anterior cingulate cortex. Furthermore, males with OXTR rs2254298A had significantly smaller gray matter volume in the right insula. These results show that decreased volume of the insula is a neuroanatomical correlate of ALTs and a potential intermediate phenotype linking ALTs with OXTR in male subjects.
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13. Sowden H, Clegg J, Perkins M. {{The development of co-speech gesture in the communication of children with autism spectrum disorders}}. {Clin Linguist Phon};2013 (Aug 14)
Abstract Co-speech gestures have a close semantic relationship to speech in adult conversation. In typically developing children co-speech gestures which give additional information to speech facilitate the emergence of multi-word speech. A difficulty with integrating audio-visual information is known to exist for individuals with Autism Spectrum Disorder (ASD), which may affect development of the speech-gesture system. A longitudinal observational study was conducted with four children with ASD, aged 2;4 to 3;5 years. Participants were video-recorded for 20 min every 2 weeks during their attendance on an intervention programme. Recording continued for up to 8 months, thus affording a rich analysis of gestural practices from pre-verbal to multi-word speech across the group. All participants combined gesture with either speech or vocalisations. Co-speech gestures providing additional information to speech were observed to be either absent or rare. Findings suggest that children with ASD do not make use of the facilitating communicative effects of gesture in the same way as typically developing children.
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14. Sterling AM, Warren SF, Brady N, Fleming K. {{Influences on maternal responsivity in mothers of children with fragile x syndrome}}. {Am J Intellect Dev Disabil};2013 (Jul);118(4):310-326.
Abstract This study investigated the influence of maternal and child variables on the maternal responsivity of 55 mothers with young children with fragile X syndrome. Data included video observations of mother-child interactions in four different contexts, standardized assessments with the children, and standardized questionnaires for the mothers. The video observations were coded for child communication acts; maternal responsivity was coded at two levels: a more general measure and a behavior-by-behavior measure. Results indicated that child developmental level and language ability strongly influenced behavior-by-behavior responsivity, while maternal IQ was the strongest predictor of both general and behavior-by-behavior responsivity, after controlling for child developmental level.
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15. Yerys BE, Kenworthy L, Jankowski KF, Strang J, Wallace GL. {{Separate Components of Emotional Go/No-Go Performance Relate to Autism Versus Attention Symptoms in Children With Autism}}. {Neuropsychology};2013 (Aug 12)
Objective: The present investigation examined whether higher functioning children with autism would demonstrate impaired response inhibition performance in an emotional go/no-go task, and whether severity of attention-deficit/hyperactivity disorder (ADHD) or autism symptoms correlated with performance. Method: Forty-four children (21 meeting criteria for autism; 23 typically developing controls [TDCs]) completed an emotional go/no-go task in which an emotional facial expression (angry, fearful, happy, or sad) was the go stimulus and a neutral facial expression was the no-go stimulus, and vice versa. Results: The autism group was faster than the TDC group on all emotional go trials. Moreover, the children in the autism group who had the fastest reaction times on emotional go trials were rated as having the greatest number of symptoms (Autism Diagnostic Observation Schedule Social + Communication score), even after accounting for the association with ADHD symptoms. The autism group also made more impulsive responses (i.e., lower d’, more false alarms) than the TDC group on all trials. As d’ decreased or false alarms increased, so did ADHD symptoms. Hyperactivity/impulsivity symptoms were significantly correlated with false alarms, but inattention symptoms were not. There was not a significant relationship between no-go false alarms and autism symptoms; even after partialing out associations with autism symptoms, the significant correlation between ADHD symptoms and no-go false alarms remained. Conclusion: The present findings support a comorbidity model that argues for shared and independent risk factors, because ADHD and autism symptoms related to independent aspects of emotional go/no-go performance. (PsycINFO Database Record (c) 2013 APA, all rights reserved).
