1. Ackerman S, Wenegrat J, Rettew D, Althoff R, Bernier R. {{No increase in autism-associated genetic events in children conceived by assisted reproduction}}. {Fertil Steril};2014 (May 17)
OBJECTIVE: To understand the rate of genetic events in patients with autism spectrum disorder (ASD) who were exposed to assisted reproduction. DESIGN: Case control study using genetics data. SETTING: Twelve collaborating data collection sites across North America as part of the Simons Simplex Collection. PATIENT(S): 2,760 children with ASD, for whom 1,994 had published copy number variation data and 424 had published gene mutation status available. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Rates of autism-associated genetic events in children with ASD conceived with assisted reproduction versus those conceived naturally. RESULT(S): No statistically significant differences in copy number variations or autism-associated gene-disrupting events were found when comparing ASD patients exposed to assisted reproduction with those not exposed to assisted reproduction. CONCLUSION(S): This is the first large genetic association to concurrently examine the genotype of individuals with ASD in relation to their exposure to ART versus natural conception, and it adds reassuring evidence to the argument that ART does not increase the risk of ASD.
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2. Ambrosino S, Bos DJ, van Raalten TR, Kobussen NA, van Belle J, Oranje B, Durston S. {{Functional connectivity during cognitive control in children with autism spectrum disorder: an independent component analysis}}. {J Neural Transm};2014 (May 21)
Restrictive and repetitive behavior in autism may be related to deficits in cognitive control. Here, we aimed to assess functional connectivity during a cognitive control task and compare brain network activity and connectivity in children with autism spectrum disorders (ASD) and typically developing children using a multivariate data-driven approach. 19 high-functioning boys with ASD and 19 age-matched typically developing boys were included in this study. Functional magnetic resonance imaging was performed at 3T during the performance of a cognitive control task (go/no-go paradigm). Functional networks were identified using independent component analysis. Network activity and connectivity was compared between groups and correlated with clinical measures of rigid behavior using multivariate analysis of covariance. We found no differences between the groups in task performance or in network activity. Power analysis indicated that, if this were a real difference, it would require nearly 800 subjects to show group differences in network activity using this paradigm. Neither were there correlations between network activity and rigid behavior. Our data do not provide support for the presence of deficits in cognitive control in children with ASD, or the functional networks supporting this ability.
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3. Bent S, Hendren RL, Zandi T, Law K, Choi JE, Widjaja F, Kalb L, Nestle J, Law P. {{Internet-based, randomized, controlled trial of omega-3 Fatty acids for hyperactivity in autism}}. {J Am Acad Child Adolesc Psychiatry};2014 (Jun);53(6):658-666.
OBJECTIVE: Preliminary evidence suggests that omega-3 fatty acids may reduce hyperactivity in children with autism spectrum disorder (ASD). We sought to examine the feasibility of a novel, Internet-based clinical trial design to evaluate the efficacy of this supplement. METHOD: E-mail invitations were sent to parents of children aged 5 to 8 years enrolled in the Interactive Autism Network. All study procedures, including screening, informed consent, and collection of outcome measures took place over the Internet. The primary outcome measures were parent- and teacher-rated changes in hyperactivity on the Aberrant Behavior Checklist (ABC-H). RESULTS: During the 6-week recruitment period, 57 children from 28 states satisfied all eligibility criteria and were randomly assigned to 1.3 grams of omega-3 fatty acids or an identical placebo daily for 6 weeks. Outcome assessments were obtained from all 57 participants and 57 teachers, and the study was completed in 3 months. Children in the omega-3 fatty acid group had a greater reduction in hyperactivity (-5.3 points) compared to the placebo group (-2.6 points), but the difference was not statistically significant (1.9-point greater improvement in the omega-3 group, 95% CI = -2.2 to 5.2). Adverse events were rare and not associated with omega-3 fatty acids. Participant feedback was positive. CONCLUSION: Internet-based, randomized controlled trials of therapies in children with ASD are feasible and may lead to marked reductions in the time and cost of completing trials. A larger sample size is required to definitively determine the efficacy of omega-3 fatty acids. Clinical trial registration information-Omega-3 Fatty Acids for Hyperactivity Treatment in Autism Spectrum Disorder; http://clinicaltrials.gov; NCT 01694667.
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4. Bolte S. {{Is autism curable?}}. {Dev Med Child Neurol};2014 (May 20)
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder of multifactorial origin. Today, ASD is generally not curable, although it is treatable to a varying degree to prevent worse outcomes. Some reports indicate the possibility of major improvements or even recovery in ASD. However, these studies are based on scientific shortcomings, and the lack of a clear definition of ‘cure’ in ASD further compromises interpretation of research findings. The development of animal models and decreasing costs of genome sequencing provide new options for treatment research and individualized medicine in ASD. This article briefly reviews several issues related to the question whether there is recovery from ASD, starting with a short overview of the presumed aetiologies.
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5. Cordier R, Brown N, Chen YW, Wilkes-Gillan S, Falkmer T. {{Piloting the use of experience sampling method to investigate the everyday social experiences of children with Asperger syndrome/high functioning autism}}. {Dev Neurorehabil};2014 (May 19):1-8.
Abstract Objective: This pilot study explored the nature and quality of social experiences of children with Asperger Syndrome/High Functioning Autism (AS/HFA) through experience sampling method (ESM) while participating in everyday activities. Methods: ESM was used to identify the contexts and content of daily life experiences. Six children with AS/HFA (aged 8-12) wore an iPod Touch on seven consecutive days, while being signalled to complete a short survey. Results: Participants were in the company of others 88.3% of their waking time, spent 69.0% of their time with family and 3.8% with friends, but only conversed with others 26.8% of the time. Participants had more positive experiences and emotions when they were with friends compared with other company. Participating in leisure activities was associated with enjoyment, interest in the occasion, and having positive emotions. Conclusions: ESM was found to be helpful in identifying the nature and quality of social experiences of children with AS/HFA from their perspective.
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6. El Zein F, Solis M, Lang R, Kim MK. {{Embedding perseverative interest of a child with autism in text may result in improved reading comprehension: A pilot study}}. {Dev Neurorehabil};2014 (May 19):1-5.
Abstract Objective: We investigated the effects of embedding the perseverative interest (PI) of a child with autism (i.e. cars) within texts on reading comprehension. Methods: A PI text condition (text altered to include cars) was compared with a non-PI text condition (same story without cars inserted) in an alternating treatment design. Dependent variables were responses to reading comprehension questions and number of words uttered during an oral retell (i.e. curriculum-based measures [CBMs]). The reading level, instructional routines, and therapist where held constant across the randomly alternated conditions. Results: Both CBMs suggested that reading comprehension was enhanced when the story included the child’s PI. Conclusions: These preliminary findings suggest that embedding the PIs of students with autism spectrum disorder within readings may result in more accurate responses to reading comprehension questions and more detailed oral retelling. These findings are discussed in terms of potential directions for future research.
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7. Goldstein ND, Tager-Flusberg H, Lee BK. {{Mapping Collaboration Networks in the World of Autism Research}}. {Autism Res};2014 (May 21)
In the era of globalization and with the emergence of autism spectrum disorder as a global concern, the landscape of autism research has expanded to encompass much of the world. Here, we seek to provide an overview of the world of autism research, by documenting collaboration underlying the International Meeting for Autism Research (IMFAR), the pre-eminent annual scientific meeting devoted to the presentation of the latest autism research. We analyzed published abstracts presented at IMFAR meetings, between 2008 and 2013, to determine patterns of collaboration. We described collaboration networks on the individual, institutional, and international levels, and visually depicted these results on spatial network maps. Consistent with findings from other scientific disciplines, we found that collaboration is correlated with research productivity. Collaborative hotspots of autism research throughout the years were clustered on the East and West coasts of the U.S., Canada, and northern Europe. In years when conferences were held outside of North America, the proportion of abstracts from Europe and Asia increased. While IMFAR has traditionally been dominated by a large North American presence, greater global representation may be attained by shifting meeting locations to other regions of the world. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Howe YJ, Yatchmink Y, Viscidi EW, Morrow EM. {{Ascertainment and gender in autism spectrum disorders}}. {J Am Acad Child Adolesc Psychiatry};2014 (Jun);53(6):698-700.
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9. Kasari C, Kaiser A, Goods K, Nietfeld J, Mathy P, Landa R, Murphy S, Almirall D. {{Communication interventions for minimally verbal children with autism: a sequential multiple assignment randomized trial}}. {J Am Acad Child Adolesc Psychiatry};2014 (Jun);53(6):635-646.
OBJECTIVE: This study tested the effect of beginning treatment with a speech-generating device (SGD) in the context of a blended, adaptive treatment design for improving spontaneous, communicative utterances in school-aged, minimally verbal children with autism. METHOD: A total of 61 minimally verbal children with autism, aged 5 to 8 years, were randomized to a blended developmental/behavioral intervention (JASP+EMT) with or without the augmentation of a SGD for 6 months with a 3-month follow-up. The intervention consisted of 2 stages. In stage 1, all children received 2 sessions per week for 3 months. Stage 2 intervention was adapted (by increased sessions or adding the SGD) based on the child’s early response. The primary outcome was the total number of spontaneous communicative utterances; secondary measures were the total number of novel words and total comments from a natural language sample. RESULTS: Primary aim results found improvements in spontaneous communicative utterances, novel words, and comments that all favored the blended behavioral intervention that began by including an SGD (JASP+EMT+SGD) as opposed to spoken words alone (JASP+EMT). Secondary aim results suggest that the adaptive intervention beginning with JASP+EMT+SGD and intensifying JASP+EMT+SGD for children who were slow responders led to better posttreatment outcomes. CONCLUSION: Minimally verbal school-aged children can make significant and rapid gains in spoken spontaneous language with a novel, blended intervention that focuses on joint engagement and play skills and incorporates an SGD. Future studies should further explore the tailoring design used in this study to better understand children’s response to treatment. Clinical trial registration information-Developmental and Augmented Intervention for Facilitating Expressive Language (CCNIA); http://clinicaltrials.gov/; NCT01013545.
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10. Kuntsi J. {{Commentary: From noise to insight? Reaction time variability in ADHD and autism spectrum disorders – a commentary on Karalunas et al. (2014)}}. {J Child Psychol Psychiatry};2014 (Jun);55(6):711-713.
Increased reaction time variability (RTV) emerged, for many of us in the field, initially as more of an ‘irritant’: a strong correlate of ADHD in particular that persisted when our pet hypotheses on other cognitive constructs withered. But the persistence of this now widespread observation – with high RTV reported across many disorders – has led to investigators paying increasingly more attention to this initially uncool concept. Time is ripe, it seems, for listening to what the ‘noise’ in our reaction time (RT) data may tell us. It is against this background that the accompanying Annual Research Review by Karalunas and colleagues captures the current enthusiasm in trying to elucidate whether RTV reflects ‘a trans-diagnostic phenotype that is associated with shared risk for several disorders or with symptom domains that cut across several disorder categories’ or whether RTV could be ‘decomposed into distinct processes that differ among psychiatric conditions’. Focusing on two neurodevelopmental disorders, ADHD and autism spectrum disorders (ASD), Karalunas et al. performed two new meta-analyses and provide an additional review of the literature, which lead to helpful interim conclusions and open a discussion (which this Commentary preludes) on the next steps in our attempts to make sense of the RT ‘noise’.
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11. Lu S, Sonney J, Kieckhefer GM. {{Asthma Management in Children With Autism Spectrum Disorders: Pearls for a Successful Clinical Encounter}}. {J Pediatr Health Care};2014 (May 21)
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12. Martin BS, Corbin JG, Huntsman MM. {{Deficient tonic GABAergic conductance and synaptic balance in the Fragile-X Syndrome Amygdala}}. {J Neurophysiol};2014 (May 21)
Fragile X Syndrome (FXS) is the leading cause of inherited intellectual disability. Comorbidities of FXS such as autism are increasingly linked to imbalances in excitation and inhibition (E/I) as well as dysfunction in GABAergic transmission in a number of brain regions including the amygdala. However, the link between E/I imbalance and GABAergic transmission deficits in the FXS amygdala is poorly understood. Here, we reveal that normal tonic GABAA receptor-mediated neurotransmission in principal neurons (PNs) of the basolateral amygdala (BLA) is comprised of both delta- and alpha5-subunit containing GABAA receptors. Furthermore, tonic GABAergic capacity is reduced in these neurons in the Fmr1 knock-out (KO) mouse model of FXS (1.5-fold total, 3-fold delta-, and 2-fold alpha5-subunit mediated) as indicated by application of gabazine (50 muM), THIP (1 muM), and alpha5ia (1.5 muM) in whole-cell patch clamp recordings. Moreover, alpha5-containing tonic GABAA receptors appear to preferentially modulate non-somatic compartments of BLA PNs. Examination of evoked feedforward synaptic transmission in these cells surprisingly revealed no differences in overall synaptic conductance or E/I balance between WT and Fmr1 KO mice. Instead, we observed altered feedforward kinetics in Fmr1 KO PNs that supports a subtle, yet significant decrease in E/I balance at the peak of excitatory conductance. Blockade of alpha5-subunit containing GABAA receptors replicated this condition in WT PNs. Therefore, our data suggest that tonic GABAA receptor mediated neurotransmission can modulate synaptic E/I balance and timing established by feedforward inhibition and thus may represent a therapeutic target to enhance amygdala function in FXS.
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13. Mohammadzaheri F, Koegel LK, Rezaee M, Rafiee SM. {{A Randomized Clinical Trial Comparison Between Pivotal Response Treatment (PRT) and Structured Applied Behavior Analysis (ABA) Intervention for Children with Autism}}. {J Autism Dev Disord};2014 (May 20)
Accumulating studies are documenting specific motivational variables that, when combined into a naturalistic teaching paradigm, can positively influence the effectiveness of interventions for children with autism spectrum disorder (ASD). The purpose of this study was to compare two applied behavior analysis (ABA) intervention procedures, a naturalistic approach, pivotal response treatment (PRT) with a structured ABA approach in a school setting. A randomized clinical trial design using two groups of children, matched according to age, sex and mean length of utterance was used to compare the interventions. The data showed that the PRT approach was significantly more effective in improving targeted and untargeted areas after 3 months of intervention. The results are discussed in terms of variables that produce more rapid improvements in communication for children with ASD.
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14. Nadal-Desbarats L, Aidoud N, Emond P, Blasco H, Filipiak I, Sarda P, Bonnet-Brilhault F, Mavel S, Andres CR. {{Combined H-NMR and H-C HSQC-NMR to improve urinary screening in autism spectrum disorders}}. {Analyst};2014 (May 20)
Autism spectrum disorders (ASD) are neurodevelopmental diseases with complex genetic and environmental etiological factors. Although genetic causes play a significant part in the etiology of ASD, metabolic disturbances may also play a causal role or modulate the clinical features of ASD. The number of ASD studies involving metabolomics is increasing, and sometime with conflicting findings. We assessed the metabolomics profiling of urine samples to determine a comprehensive biochemical signature of ASD. Furthermore, to date no study has combined metabolic profiles obtained from different analytical techniques to distinguish patient with ASD from healthy individuals. We obtained 1H-NMR spectra and 2D 1H-13C HSQC NMR spectra from urine samples of patients with ASD or healthy controls. We analyzed these spectra by multivariate statistical data analysis. The OPLS-DA model obtained from 1H NMR spectra showed a good discrimination between ASD samples and non-ASD samples (R2Y(cum) = 0.70 and Q2 = 0.51). Combining the 1H NMR spectra and the 2D 1H-13C HSQC NMR spectra increased the overall quality and predictive value of the OPLS-DA model (R2Y(cum) = 0.84 and Q2 = 0.71), leading to a better sensitivity and specificity. Urinary excretion of succinate, glutamate and 3-methyl-histidine differed significantly between ASD and non-ASD samples. Urinary screening of children with neurodevelopmental disorders by combining NMR spectroscopies (1D and 2D) in multivariate analysis is a better sensitive and a straightforward method that could help the diagnosis ASD.
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15. Nylander L, Thernlund G. {{[Risk of overdiagnosis of autism spectrum disorder]}}. {Lakartidningen};2014 (Apr 16-29);111(16-17):716-717.
16. Ogata H, Ihara H, Murakami N, Gito M, Kido Y, Nagai T. {{Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader-Willi syndrome: A comparison between maternal uniparental disomy and deletion cases}}. {Am J Med Genet A};2014 (May 21)
This study aims to compare maternal uniparental disomy 15 (mUPD) and a paternal deletion of 15q11-13 (DEL) of Prader-Willi syndrome (PWS) in regard to autism spectrum disorders (ASD). Forty-five Japanese individuals with PWS were recruited from a single recruitment center. The participants consisted of 22 children (aged from 6 to 12) and 23 adolescents (aged from 13 to 19). Six children and seven adolescents were confirmed as having mUPD. Sixteen children and 16 adolescents were confirmed as having DEL. Under blindness to the participants’ genotypes, a single psychologist carried out behavioral and psychological assessments, including the Wechsler Intelligence Scales, Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), and ADHD-Rating Scale-IV (ADHD-RS-IV). Two comparisons were made: one between mUPD and DEL children and another between mUPD and DEL adolescents. In children, no significant differences were found between mUPD and DEL participants in terms of autistic (PARS childhood, P = 0.657) and impulsive behaviors (ADHD-RS-IV hyperactive/impulsive, P = 0.275). In adolescents, mUPD patients showed significantly more autistic symptomatology (PARS adolescent, P = 0.027) and significantly more impulsive behavior (ADHD-RS-IV hyperactive/impulsive, P = 0.01) than DEL patients. Our findings about Japanese PWS patients were consistent with previous researches from western countries not focused on Asian patients, indicating that mUPD cases would be more prone to ASD than DEL cases, regardless of ethnoregional differences. In addition, our data suggested that the behavioral difference between mUPD and DEL cases in terms of autistic and impulsive symptoms tend to be unrecognizable in their childhood. (c) 2014 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.
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17. Tager-Flusberg H. {{Promoting communicative speech in minimally verbal children with autism spectrum disorder}}. {J Am Acad Child Adolesc Psychiatry};2014 (Jun);53(6):612-613.
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18. Warlaumont AS, Richards JA, Gilkerson J, Oller DK. {{A Social Feedback Loop for Speech Development and Its Reduction in Autism}}. {Psychol Sci};2014 (May 19)
We analyzed the microstructure of child-adult interaction during naturalistic, daylong, automatically labeled audio recordings (13,836 hr total) of children (8- to 48-month-olds) with and without autism. We found that an adult was more likely to respond when the child’s vocalization was speech related rather than not speech related. In turn, a child’s vocalization was more likely to be speech related if the child’s previous speech-related vocalization had received an immediate adult response rather than no response. Taken together, these results are consistent with the idea that there is a social feedback loop between child and caregiver that promotes speech development. Although this feedback loop applies in both typical development and autism, children with autism produced proportionally fewer speech-related vocalizations, and the responses they received were less contingent on whether their vocalizations were speech related. We argue that such differences will diminish the strength of the social feedback loop and have cascading effects on speech development over time. Differences related to socioeconomic status are also reported.
