1. Burket JA, Benson AD, Tang AH, Deutsch SI. {{Rapamycin improves sociability in the BTBR TItpr3/J mouse model of autism spectrum disorders}}. {Brain Res Bull};2013 (Dec 1)
Overactivation of the mammalian target of rapamycin (mTOR) has been implicated in the pathogenesis of syndromic forms of autism spectrum disorders (ASDs), such as tuberous sclerosis complex, neurofibromatosis 1, and fragile X syndrome. Administration of mTORC1 (mTOR complex 1) inhibitors (e.g. rapamycin) in syndromic mouse models of ASDs improved behavior, cognition, and neuropathology. However, since only a minority of ASDs are due to the effects of single genes ( approximately 10%), there is a need to explore inhibition of mTOR activity in mouse models that may be more relevant to the majority of nonsyndromic presentations, such as the genetically inbred BTBR T+Itpr3tf/J (BTBR) mouse model of ASDs. BTBR mice have social impairment and exhibit increased stereotypic behavior, which may be due to an upregulation of Raf/ERK, upstream intermediates in mTOR signaling. In prior work, d-cycloserine, a partial glycineB site agonist that targets the N-methyl-d-aspartate (NMDA) receptor, was shown to improve sociability in both Balb/c and BTBR mouse models of ASDs. Importantly, NMDA receptor activation regulates mTOR signaling activity. The current study investigated the ability of rapamycin (10mg/kg, i.p.xfour days), an mTORC1 inhibitor, to improve sociability and stereotypic behavior in BTBR mice. Using a standard paradigm to assess mouse social behavior, rapamycin improved several measures of sociability in the BTBR mouse, suggesting that mTOR overactivation represents a therapeutic target that mediates or contributes to impaired sociability in the BTBR mouse model of ASDs. Interestingly, there was no effect of rapamycin on stereotypic behaviors in this mouse model.
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2. Cassidy S, Ropar D, Mitchell P, Chapman P. {{Can Adults With Autism Spectrum Disorders Infer What Happened to Someone From Their Emotional Response?}}. {Autism Res};2013 (Dec 4)
Can adults with autism spectrum disorders (ASD) infer what happened to someone from their emotional response? Millikan has argued that in everyday life, others’ emotions are most commonly used to work out the antecedents of behavior, an ability termed retrodictive mindreading. As those with ASD show difficulties interpreting others’ emotions, we predicted that these individuals would have difficulty with retrodictive mindreading. Sixteen adults with high-functioning autism or Asperger’s syndrome and 19 typically developing adults viewed 21 video clips of people reacting to one of three gifts (chocolate, monopoly money, or a homemade novelty) and then inferred what gift the recipient received and the emotion expressed by that person. Participants’ eye movements were recorded while they viewed the videos. Results showed that participants with ASD were only less accurate when inferring who received a chocolate or homemade gift. This difficulty was not due to lack of understanding what emotions were appropriate in response to each gift, as both groups gave consistent gift and emotion inferences significantly above chance (genuine positive for chocolate and feigned positive for homemade). Those with ASD did not look significantly less to the eyes of faces in the videos, and looking to the eyes did not correlate with accuracy on the task. These results suggest that those with ASD are less accurate when retrodicting events involving recognition of genuine and feigned positive emotions, and challenge claims that lack of attention to the eyes causes emotion recognition difficulties in ASD. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Chen YW, Cordier R, Brown N. {{A preliminary study on the reliability and validity of using experience sampling method in children with autism spectrum disorders}}. {Dev Neurorehabil};2013 (Dec 4)
Abstract Objective: This study investigated the feasibility of using experience sampling method (ESM) to study everyday experiences in children with autism spectrum disorders. Methods: Six boys, aged 8-12 years, with high-functioning autism or Asperger syndrome carried an iPod touch with a pre-installed ESM survey about what they were doing, where, with whom and the quality of their experiences and associated emotions. They were randomly signalled seven times daily for seven consecutive days to respond to the survey. Results: The average signal response rates (56.8%) was acceptable and the mean time of survey completion (1 minute 53 seconds) was within acceptable range. Split-week analysis supported the consistency of experiences reporting while correlations among theoretically linked quality of experiences and emotions showed the internal logic of participants’ responses; thus supporting internal reliability and validity, respectively. Conclusion: The study demonstrated the feasibility and usefulness of using ESM in exploring participants’ everyday life experiences.
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4. Falkmer M, Oehlers K, Granlund M, Falkmer T. {{Can you see it too? Observed and self-rated participation in mainstream schools in students with and without autism spectrum disorders}}. {Dev Neurorehabil};2013 (Dec 4)
Abstract Objectives: To examine the degree to which observations can capture perception of participation, observed and self-rated levels of interactions for students with and without autism spectrum disorders (ASD) were explored. Methods: Frequencies and levels of involvement in interactions with classmates were observed and compared in 22 students with ASD and 84 of their classmates in mainstream schools, using a standardized protocol. Self-reported participation measurements regarding interactions with classmates and teachers from five questionnaire items were correlated with the observations. In total, 51 516 data points were coded and entered into the analyses, and correlated with 530 questionnaire ratings. Results: Only one weak correlation was found in each group. Compared with classmates, students with ASD participated less frequently, but were not less involved when they actually did. Conclusions: Observations alone do not capture the individuals’ perception of participation and are not sufficient if the subjective aspect of participation is to be measured.
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5. Francis A, Msall M, Obringer E, Kelley K. {{Children with autism spectrum disorder and epilepsy}}. {Pediatr Ann};2013 (Dec 1);42(12):255-260.
CME EDUCATIONAL OBJECTIVES 1. To review the prevalence of epilepsy in children with autism spectrum disorder (ASD), the types of seizures associated with ASD, common electroencephalogram (EEG) findings, and common MRI findings. 2. To understand the current treatment approaches and the evidence based strategies for intervention. 3. To recognize that that care coordination and implementation of the medical home principle is of great importance for children with autism and epilepsy. Autism spectrum disorder (ASD) is a biologically based neurodevelopmental disability characterized by qualitative and persistent deficits in social communication and social interaction and by the presence of restricted, repetitive, and stereotyped patterns of behavior. Symptoms must be present in early childhood and they must limit and impair everyday functioning. There is an increased prevalence of epilepsy and/or epileptiform electroencephalography (EEG) abnormalities in children with ASD. It is estimated that approximately one-third of children and adolescents with ASD experience seizures, but the relationship between epilepsy and autism is controversial. This article reviews the types of seizures associated with ASD, the EEG findings, and current treatment strategies. The article also describes syndromes associated with the autism phenotype and epilepsy.
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6. Gordon I, Vander Wyk BC, Bennett RH, Cordeaux C, Lucas MV, Eilbott JA, Zagoory-Sharon O, Leckman JF, Feldman R, Pelphrey KA. {{Oxytocin enhances brain function in children with autism}}. {Proc Natl Acad Sci U S A};2013 (Dec 2)
Following intranasal administration of oxytocin (OT), we measured, via functional MRI, changes in brain activity during judgments of socially (Eyes) and nonsocially (Vehicles) meaningful pictures in 17 children with high-functioning autism spectrum disorder (ASD). OT increased activity in the striatum, the middle frontal gyrus, the medial prefrontal cortex, the right orbitofrontal cortex, and the left superior temporal sulcus. In the striatum, nucleus accumbens, left posterior superior temporal sulcus, and left premotor cortex, OT increased activity during social judgments and decreased activity during nonsocial judgments. Changes in salivary OT concentrations from baseline to 30 min postadministration were positively associated with increased activity in the right amygdala and orbitofrontal cortex during social vs. nonsocial judgments. OT may thus selectively have an impact on salience and hedonic evaluations of socially meaningful stimuli in children with ASD, and thereby facilitate social attunement. These findings further the development of a neurophysiological systems-level understanding of mechanisms by which OT may enhance social functioning in children with ASD.
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7. Ishii-Takahashi A, Takizawa R, Nishimura Y, Kawakubo Y, Kuwabara H, Matsubayashi J, Hamada K, Okuhata S, Yahata N, Igarashi T, Kawasaki S, Yamasue H, Kato N, Kasai K, Kano Y. {{Prefrontal activation during inhibitory control measured by near-infrared spectroscopy for differentiating between autism spectrum disorders and attention deficit hyperactivity disorder in adults}}. {Neuroimage Clin};2013;4:53-63.
The differential diagnosis of autism spectrum disorders (ASDs) and attention deficit hyperactivity disorder (ADHD) based solely on symptomatic and behavioral assessments can be difficult, even for experts. Thus, the development of a neuroimaging marker that differentiates ASDs from ADHD would be an important contribution to this field. We assessed the differences in prefrontal activation between adults with ASDs and ADHD using an entirely non-invasive and portable neuroimaging tool, near-infrared spectroscopy. This study included 21 drug-naive adults with ASDs, 19 drug-naive adults with ADHD, and 21 healthy subjects matched for age, sex, and IQ. Oxygenated hemoglobin concentration changes in the prefrontal cortex were assessed during a stop signal task and a verbal fluency task. During the stop signal task, compared to the control group, the ASDs group exhibited lower activation in a broad prefrontal area, whereas the ADHD group showed underactivation of the right premotor area, right presupplementary motor area, and bilateral dorsolateral prefrontal cortices. Significant differences were observed in the left ventrolateral prefrontal cortex between the ASDs and ADHD groups during the stop signal task. The leave-one-out cross-validation method using mean oxygenated hemoglobin changes yielded a classification accuracy of 81.4% during inhibitory control. These results were task specific, as the brain activation pattern observed during the verbal fluency task did not differentiate the ASDs and ADHD groups significantly. This study therefore provides evidence of a difference in left ventrolateral prefrontal activation during inhibitory control between adults with ASDs and ADHD. Thus, near-infrared spectroscopy may be useful as an auxiliary tool for the differential diagnosis of such developmental disorders.
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8. Mamidala MP, Polinedi A, Kumar PP, Rajesh N, Vallamkonda OR, Udani V, Singhal N, Rajesh V. {{Maternal hormonal interventions as a risk factor for Autism Spectrum Disorder: An epidemiological assessment from India}}. {J Biosci};2013 (Dec);38(5):887-892.
Globalization and women empowerment have led to stressful life among Indian women. This stress impairs women’s hormonal makeup and menstrual cycle, leading to infertility. National Family Health Survey-3 (NFHS-3) reports a decline in fertility status in India, indicating a rise in various infertility treatments involving hormonal interventions. No studies are available from India on the risk association link between maternal hormonal treatments and ASD. Hence, this study explores the association of maternal hormonal interventions with risk for ASD. Parents of 942 children (471 ASD and 471 controls) across 9 cities in India participated in the questionnaire-based study. The questionnaire was pilot tested and validated for its content and reliability as a psychometric instrument. Data collection was done at 70 centres through direct interaction with parents and with the help of trained staff. Statistical analysis of data was carried out using SAS 9.1.3. Out of the 471 ASD cases analysed, 58 mothers had undergone hormonal interventions (12.3 percent) while there were only 22 mothers among controls who underwent hormonal interventions (4.6 percent). According to logistic regression analysis maternal hormonal intervention (OR=2.24) was a significant risk factor for ASD.
9. Naigles LR. {{Input and language development in children with autism}}. {Semin Speech Lang};2013 (Nov);34(4):237-248.
The social deficits associated with autism spectrum disorders (ASD) have been implicated in the language delays and deficits of children with ASD. Consequently, the extent to which children with ASD utilize their language-related interactions and input in the same ways as typically developing children is only just beginning to be investigated. The current article summarizes the role of input for typically developing children learning language, and then reviews in some detail recent studies demonstrating influential effects of maternal responsivity (e.g., following in on children’s focus of attention) and aspects of maternal speech (e.g., word frequency, word diversity, structural complexity) on the language production and comprehension of young children with ASD. Maternal responsivity appears to play a particularly influential role with children who are minimally verbal whereas the content and structure of maternal speech facilitate language in children who are already verbal.
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10. Noriega DB, Savelkoul HF. {{Immune dysregulation in autism spectrum disorder}}. {Eur J Pediatr};2013 (Dec 3)
Autism spectrum disorder (ASD) is a common and severe neuro-developmental disorder in early childhood which is defined by social and communication deficits and repetitive and stereotypic behaviours. The aetiology of ASD remains poorly understood. Susceptibility to development of ASD has significant environmental components, in addition to the profound genetic heritability. Few genes have been associated to the risk for ASD development. There is substantial evidence implicating chronic neurological inflammation and immune dysregulation leading to upregulation of inflammatory cytokines in the ASD brain, probably due to altered blood-brain barrier function. The immune system is characterized by excessive and skewed cytokine responses, modulated T cell reactivity, decreased regulation and production of immunosuppressive cytokines, modified NK function and increased autoantibody production. Conclusion: The perinatal environment generates vulnerability to chronic neuro-inflammation in the brain associated with profound modulation and dysregulation in the immune system leading to the rapid development of ASD in genetically susceptible children.
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11. Park J, Ro M, Pyun JA, Nam M, Bang HJ, Yang JW, Choi KS, Kim SK, Chung JH, Kwack K. {{MTHFR 1298A>C is a risk factor for autism spectrum disorder in the Korean population}}. {Psychiatry Res};2013 (Nov 18)
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12. Pendergrass S, Girirajan S, Selleck S. {{Uncovering the etiology of autism spectrum disorders: genomics, bioinformatics, environment, data collection and exploration, and future possibilities}}. {Pac Symp Biocomput};2014;19:422-426.
A clear and predictive understanding of the etiology of autism spectrum disorders (ASD), a group of neurodevelopmental disorders characterized by varying deficits in social interaction and communication as well as repetitive behaviors, has not yet been achieved. There remains active debate about the origins of autism, and the degree to which genetic and environmental factors, and their interplay, produce the range and heterogeneity of cognitive, developmental, and behavioral features seen in children carrying a diagnosis of ASD. Unlocking the causes of these complex developmental disorders will require a collaboration of experts in many disciplines, including clinicians, environmental exposure experts, bioinformaticists, geneticists, and computer scientists. For this workshop we invited prominent researchers in the field of autism, covering a range of topics from genetic and environmental research to ethical considerations. The goal of this workshop: provide an introduction to the current state of autism research, highlighting the potential for multi-disciplinary collaborations that rigorously evaluate the many potential contributors to ASD. It is further anticipated that approaches that successfully advance the understanding of ASD can be applied to the study of other common, complex disorders. Herein we provide a short review of ASD and the work of the invited speakers.
13. Silva L, Schalock M. {{Treatment of Tactile Impairment in Young Children with Autism: Results with Qigong Massage}}. {Int J Ther Massage Bodywork};2013;6(4):12-20.
BACKGROUND: Following the inclusion of sensory abnormalities in the diagnostic criteria for autism, evidence has emerged showing that tactile abnormalities in young children with autism are severe, universally present, and directly related to delay of early self-regulation milestones required for social development. Parent touch is the most effective means of stimulating early self-regulation, yet parents of children with autism avoid touch because their children respond abnormally to it. This suggests that tactile abnormalities pose a barrier to parent touch in autism, and that treatment of tactile abnormalities may improve developmental outcomes. We have developed a qigong massage treatment for tactile abnormalities in young children with autism. Here we evaluate whether tactile abnormalities decrease following treatment, and whether treatment results in improved self-regulatory outcomes. METHODS: We retrospectively analyzed our qigong massage database for treatment effect on tactile abnormalities, self-regulatory delay, and parenting stress. Five-month interval data were available for 129 children with autism aged 3-6 years. Of these 129, 97 received treatment and 32 were in the wait-list control condition. There were no differences between treatment and control groups by age, gender, or severity of tactile impairment. RESULTS: Treatment resulted in significant decreases of tactile impairment, self-regulatory delay, and parenting stress (p < .001 on all paired t-tests); mean decreases were 25.5%, 24.5%, and 35.8%, respectively. Results were significant compared to controls [F(3,122) = 11.27, p < .001]. In the pretreatment data, tactile impairment was directly related to self-regulatory delay; post-treatment, both variables decreased proportionally. CONCLUSION: Results demonstrate that tactile impairment in young children with autism is treatable with a qigong massage protocol. The direct relationship between tactile impairment and self-regulatory delay pretreatment, and the proportional decrease of both following treatment, suggest that tactile impairment is a cause of self-regulatory delay, and that qigong massage is a promising avenue to improve developmental outcomes in autism.
14. Turygin N, Matson JL, Tureck K. {{The relationship of attention-deficit hyperactivity disorder and autism spectrum disorder to adaptive skills in young children}}. {Dev Neurorehabil};2013 (Dec 4)
Abstract Objective: Attention-deficit hyperactivity disorder (ADHD) has been linked to deficits in socialization and communication, similar to those observed in children with ASD. In the present study, we examine the differences in developmental quotient and subscale scores between children with ASD and children with ADHD. Methods: We compared the developmental scores in a sample of 2990 children who presented to an early intervention program, who met criteria for ASD, inattentive ADHD, hyperactive/impulsive ADHD, combined ASD/ADHD, or are at risk for developmental disorders. Results: The overall developmental quotient did not significantly differ between those in the ADHD inattentive and hyperactive subtype groups. Adaptive skills differed most greatly between the ASD groups and the ADHD/atypically-developing groups. Conclusion: The present study represents a first step towards understanding the relationship of ADHD to ASD in early childhood. Young children with ASD symptoms are more greatly impaired than those with symptoms of ADHD.
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15. Wisniowiecka-Kowalnik B, Kastory-Bronowska M, Stankiewicz P. {{[Genetic bases of autism spectrum disorders.]}}. {Med Wieku Rozwoj};2013;17(3):207-223.
Autism spectrum disorders (ASDs) are an etiologically and clinically heterogeneous group of neurodevelopmental disorders affecting approximately 0.6-1% of the general population. ASDs are characterized by deficits in social communication, impaired language development, and stereotyped repetitive behaviour. The impact of genetic factors in ASDs has been confirmed in the past few years. Numerous studies have shown that among patients with ASDs, approximately 10% have DNA copynumber variation and 10-20% point mutations. Most of the deficiencies identified in individuals with ASDs relate to genes encoding proteins involved mainly in the development of neurons and their synapses functioning in various signaling pathways. Due to the large heterogeneity of identified changes in the genome of individuals with ASDs, the newest techniques enabling analysis of the entire genome in one study (microarrays, next-generation sequencing) are the methods of choice in the diagnostics of this pathology.
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16. Yoo J, Bakes J, Bradley C, Collingridge GL, Kaang BK. {{Shank mutant mice as an animal model of autism}}. {Philos Trans R Soc Lond B Biol Sci};2014;369(1633):20130143.
In this review, we focus on the role of the Shank family of proteins in autism. In recent years, autism research has been flourishing. With genetic, molecular, imaging and electrophysiological studies being supported by behavioural studies using animal models, there is real hope that we may soon understand the fundamental pathology of autism. There is also genuine potential to develop a molecular-level pharmacological treatment that may be able to deal with the most severe symptoms of autism, and clinical trials are already underway. The Shank family of proteins has been strongly implicated as a contributing factor in autism in certain individuals and sits at the core of the alleged autistic pathway. Here, we analyse studies that relate Shank to autism and discuss what light this sheds on the possible causes of autism.
