1. Berkovits L, Eisenhower A, Blacher J. {{Emotion Regulation in Young Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2016 (Nov 12)
There has been little research connecting underlying emotion processes (e.g., emotion regulation) to frequent behavior problems in young children with autism spectrum disorder (ASD). This study examined the stability of emotion regulation and its relationship with other aspects of child functioning. Participants included 108 children with ASD, ages 4-7, and their primary caregivers. ASD symptoms and cognitive/language abilities were assessed upon study entry. Parents reported on children’s emotion regulation, social skills and behavior problems at two time points, 10 months apart. Emotion dysregulation was stable and related strongly to social and behavioral functioning but was largely independent of IQ. Further analyses suggested that emotion dysregulation predicts increases in social and behavioral difficulties across time. Implications for intervention are discussed.
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2. Blain SD, Peterman JS, Park S. {{Subtle cues missed: Impaired perception of emotion from gait in relation to schizotypy and autism spectrum traits}}. {Schizophr Res};2016 (Nov 9)
BACKGROUND: Deficits in emotion perception are central features of schizophrenia and autism spectrum disorders. These conditions are also associated with disrupted embodiment and impaired processing of biological motion. However, medication and the impact of illness over time complicate the study of socioemotional processing in such neuropsychiatric populations. Thus, the current study investigated the perception of emotional cues from gait, in relation to autistic and schizotypal traits in the general population. METHODS: Self-report measures of schizotypy and autism-spectrum were obtained from 107 healthy participants. An affective biological motion task that required participants to discriminate emotions from the gait patterns of polygonal avatars at varying levels of emotional intensity was used to assess accuracy of emotion perception. RESULTS: Emotion perception accuracy depended on the stimulus intensity. Those with elevated autism spectrum quotient and those with elevated positive syndrome (cognitive-perceptual) schizotypy showed deficits in emotion perception from gait. CONCLUSIONS: Perception of emotion from low-intensity gait cues is compromised in those who may carry liability for autism or psychosis. Emotion perception deficits may be a core feature of autism and schizophrenia, rather than simply being a downstream consequence of illness duration or medication.
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3. Brynskov C, Eigsti IM, Jorgensen M, Lemcke S, Bohn OS, Krojgaard P. {{Syntax and Morphology in Danish-Speaking Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov 14)
The current study examined delays in syntax and morphology, and vocabulary, in autism spectrum disorder (ASD). Children ages 4-6 years with ASD (n = 21) and typical development (n = 21), matched on nonverbal mental age, completed five language tasks. The ASD group had significant delays in both syntax and morphology, and vocabulary measures, with significant within-group heterogeneity; furthermore, syntactic and morphological measures were impaired even for subgroups matched on vocabulary. Children in the ASD group without early language delay showed syntactic and morphological impairment, with intact performance on vocabulary and sentence repetition. Findings indicate that syntactic and morphological impairments are a significant concern for high-functioning children with ASD, and may be overlooked if language evaluation focuses exclusively on vocabulary.
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4. Bu B, Zhang L. {{A New Link Between Insulin Signaling and Fragile X Syndrome}}. {Neurosci Bull};2016 (Nov 12)
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5. Choi H, Song J, Park G, Kim J. {{Modeling of Autism Using Organoid Technology}}. {Mol Neurobiol};2016 (Nov 14)
Autism is a neurodevelopmental disease caused by multiple mutations during development. However, a suitable disease model to study the molecular pathway of disease onset and progression is not available. Although many studies have used human stem cells such as induced pluripotent stem cells and embryonic stem cells to investigate the disease pathogenesis, these stem cell techniques are limited in their abilities to study the pathology and mechanism of pathogenesis of neurodevelopmental diseases such as autism. Therefore, researchers are focusing on the strengths of three-dimensional (3D) structures mimicking organs, organoids, for modeling autism. In this review, we highlight the advantages of 3D organoid systems to investigate the mechanisms of the pathogenesis of autism. Further, because the onset of autism is determined by genetic background, we suggest the application of the clustered regularly interspersed short palindromic repeat-associated protein 9 (CRISPR/Cas9) technique for genome editing in 3D organoid systems to study mutations that cause autism. We propose that 3D organoid systems combined with the CRISPR/Cas9 technique may advance autism research.
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6. DiBona CJ, DiBona JA. {{Shorter Wait Times for Autism Intervention Is a Win-Win-Win for Kids, Parents, and Taxpayers}}. {JAMA Pediatr};2016 (Nov 14)
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7. Eagleson KL, Xie Z, Levitt P. {{The Pleiotropic MET Receptor Network: Circuit Development and the Neural-Medical Interface of Autism}}. {Biol Psychiatry};2016 (Sep 15)
People with autism spectrum disorder and other neurodevelopmental disorders (NDDs) are behaviorally and medically heterogeneous. The combination of polygenicity and gene pleiotropy-the influence of one gene on distinct phenotypes-raises questions of how specific genes and their protein products interact to contribute to NDDs. A preponderance of evidence supports developmental and pathophysiological roles for the MET receptor tyrosine kinase, a multifunctional receptor that mediates distinct biological responses depending upon cell context. MET influences neuron architecture and synapse maturation in the forebrain and regulates homeostasis in gastrointestinal and immune systems, both commonly disrupted in NDDs. Peak expression of synapse-enriched MET is conserved across rodent and primate forebrain, yet regional differences in primate neocortex are pronounced, with enrichment in circuits that participate in social information processing. A functional risk allele in the MET promoter, enriched in subgroups of children with autism spectrum disorder, reduces transcription and disrupts socially relevant neural circuits structurally and functionally. In mice, circuit-specific deletion of Met causes distinct atypical behaviors. MET activation increases dendritic complexity and nascent synapse number, but synapse maturation requires reductions in MET. MET mediates its specific biological effects through different intracellular signaling pathways and has a complex protein interactome that is enriched in autism spectrum disorder and other NDD candidates. The interactome is coregulated in developing human neocortex. We suggest that a gene as pleiotropic and highly regulated as MET, together with its interactome, is biologically relevant in normal and pathophysiological contexts, affecting central and peripheral phenotypes that contribute to NDD risk and clinical symptoms.
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8. Fusar-Poli L, Brondino N, Orsi P, Provenzani U, De Micheli A, Ucelli di Nemi S, Barale F, Politi P. {{Long-term outcome of a cohort of adults with autism and intellectual disability: A pilot prospective study}}. {Res Dev Disabil};2016 (Nov 9)
BACKGROUND: Autism spectrum disorders (ASD) are a long-life condition frequently associated with intellectual disability. To date, long-term outcome has been investigated mostly in ASD people with average or above-average intelligence and there is a paucity of data about autistic adults with comorbid intellectual disability. AIMS: The aim of the present study is to assess long-term variations of adaptive abilities in a sample of autistic adults with intellectual disability and severe language impairment. METHODS AND PROCEDURES: 22 adults (17 males and 5 females) affected by autism and intellectual disability were recruited and evaluated after their admission in an Italian farm-community. Vineland Adaptive Behavior Scales (VABS) were used as outcome measure for adaptive abilities. After ten years the measurement was repeated in order to study the evolution of patients’ skills along time. Additionally, sociodemographic variables, changes in medication and comorbidities were recorded. OUTCOMES AND RESULTS: No statistically significant improvement neither deterioration was found according to VABS raw scores in the entire sample. On the contrary, a significant improvement was evident in standard scores for the Adaptive Behavior Composite Scale and for each domain. CONCLUSIONS AND IMPLICATIONS: In general, our patients remained stable in adaptive abilities. However, our results are not generalisable to the entire autistic population, but only to inpatients with autism and comorbid intellectual disability. New measures should be developed in order to better assess changes in this particular population.
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9. Hsu CW, Teoh YS. {{Investigating Event Memory in Children with Autism Spectrum Disorder: Effects of a Computer-Mediated Interview}}. {J Autism Dev Disord};2016 (Nov 14)
The present study aimed to examine the effects of a novel avatar interviewing aid during memory interviews with children with autism spectrum disorder (ASD). Thirty children were recruited for our study (Age: M = 7.60, SD = 0.68), half with ASD (13 boys; 2 girls) and the other half being neurotypical (13 boys; 2 girls). Children participated in a target event and were subsequently interviewed a week later by either an avatar interviewer or a human. The participants were also asked six misleading questions aimed to examine their suggestibility. Bayesian analysis showed some increase in memory performance for both groups of children interviewed by the avatar interviewer, and this effect exacerbated for children with ASD. These results showed encouraging implications for future applications.
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10. Hutton NK, Mitchell C, van der Riet M. {{Assessing an isiZulu questionnaire with educators in primary schools in Pietermaritzburg to establish a baseline of knowledge of Autism Spectrum Disorder}}. {BMC Pediatr};2016 (Nov 14);16(1):185.
BACKGROUND: Autism Spectrum Disorder (ASD) is a significant childhood disorder and has a growing prevalence rate across the world. It has been identified in children from a wide range of racial groups, ethnicities and socio-economic groups, making it a globally relevant disorder. However, a lack of research on ASD in Africa makes it difficult to determine the prevalence rate, presentation and level of knowledge regarding the disorder locally. Therefore, assessing knowledge of ASD amongst professionals is a useful starting point for research in countries where research on ASD is limited. Educators in particular are a vital resource due to the likelihood of their early identification of developmental delays in children of school going age. Awareness studies reveal that professionals have poor awareness of ASD and therefore what educators in South Africa know about ASD needs to be established. METHODS: This study translated the Knowledge about Childhood Autism among Health Workers (KCAHW) questionnaire that was originally designed by Bakare and colleagues (Clinical Practice and Epidemiology in Mental Health 4:17, 2008). The isiZulu KCAHW questionnaire was then used to investigate the level of knowledge of ASD amongst educators in Edendale, Pietermaritzburg, South Africa. Fifty (50) educators consented to complete the questionnaire and the data was analysed using the statistical programme SPSS. RESULTS: The results suggested that educators have an adequate baseline knowledge of ASD but their knowledge was found to be lacking in specific detail. The mean total score for the educator sample was 13.08 (out of a possible 19) which suggested that educators in Edendale, Pietermaritzburg knew 68% of the symptoms covered in the questionnaire. CONCLUSIONS: The isiZulu KCAHW questionnaire appears to be a useful measure for use in the South African context. It provided significant information regarding educator knowledge of ASD in Edendale, Pietermaritzburg. However, the analysis also showed that whilst the educators had an adequate general knowledge of ASD, they lacked specific insight into the disorder, particularly with regards to etiology and age of onset. Furthermore, the results showed that there is an opportunity for further research and interventions to develop knowledge of ASD within the local context in South Africa.
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11. Liu G, Pearl AM, Kong L, Leslie DL, Murray MJ. {{A Profile on Emergency Department Utilization in Adolescents and Young Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2016 (Nov 14)
There has been an increase in utilization of the Emergency Department (ED) in individuals with autism spectrum disorder (ASD) which may reflect a deficit of services (Green et al., Journal of the American Academy of Child and Adolescent Psychiatry 40(3):325-332, 2001; Gurney et al., Archives of Pediatric and Adolescent Medicine 160:825-830, 2006; Leichtman et al., American Journal of Orthopsyhciatry 72(2):227-235, 2001). The current study examined the rates of ED utilization between 2005 and 2013 in ASD youth 12- to 21-years-old. Adolescents with ASD accessed ED services four times as often as adolescents without ASD. Older adolescents and those living in rural areas showed a significant increase in ED visits over time. Post hoc analysis revealed increased ED utilization for females and behavioral health ED services over time. Better access to and greater understanding of services for adolescents with ASD is a critical need.
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12. Nazeen S, Palmer NP, Berger B, Kohane IS. {{Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities}}. {Genome Biol};2016 (Nov 14);17(1):228.
BACKGROUND: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder that tends to co-occur with other diseases, including asthma, inflammatory bowel disease, infections, cerebral palsy, dilated cardiomyopathy, muscular dystrophy, and schizophrenia. However, the molecular basis of this co-occurrence, and whether it is due to a shared component that influences both pathophysiology and environmental triggering of illness, has not been elucidated. To address this, we deploy a three-tiered transcriptomic meta-analysis that functions at the gene, pathway, and disease levels across ASD and its co-morbidities. RESULTS: Our analysis reveals a novel shared innate immune component between ASD and all but three of its co-morbidities that were examined. In particular, we find that the Toll-like receptor signaling and the chemokine signaling pathways, which are key pathways in the innate immune response, have the highest shared statistical significance. Moreover, the disease genes that overlap these two innate immunity pathways can be used to classify the cases of ASD and its co-morbidities vs. controls with at least 70 % accuracy. CONCLUSIONS: This finding suggests that a neuropsychiatric condition and the majority of its non-brain-related co-morbidities share a dysregulated signal that serves as not only a common genetic basis for the diseases but also as a link to environmental triggers. It also raises the possibility that treatment and/or prophylaxis used for disorders of innate immunity may be successfully used for ASD patients with immune-related phenotypes.
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13. Rava J, Shattuck P, Rast J, Roux A. {{The Prevalence and Correlates of Involvement in the Criminal Justice System Among Youth on the Autism Spectrum}}. {J Autism Dev Disord};2016 (Nov 14)
This study examined the prevalence and correlates of involvement in the criminal justice system among a nationally representative sample of youth with autism. We examined whether youth had been stopped and questioned by police or arrested at 14-15 years old and 21-22 years old. By age 21, approximately 20% of youth with autism had been stopped and questioned by police and nearly 5% had been arrested. Female youth were less likely to be involved in the criminal justice system, whereas youth displaying externalizing behaviors were more likely to be involved in the criminal justice system. Further research is needed to investigate factors associated with involvement in the criminal justice system among youth with autism and to implement prevention strategies.
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14. Spitzer D, White SJ, Mandy W, Burgess PW. {{Confabulation in children with autism}}. {Cortex};2016 (Oct 19)
Some children with high-functioning autistic spectrum conditions (ASC) have been noted clinically to produce accounts and responses akin to confabulations in neurological patients. Neurological confabulation is typically associated with abnormalities of the frontal lobes and related structures, and some forms have been linked to poor performance on source monitoring and executive function tasks. ASC has also been linked to atypical development of the frontal lobes, and impaired performance on source monitoring and executive tasks. But confabulation in autism has not to our knowledge previously been examined experimentally. So we investigated whether patterns of confabulation in autism might share similarities with neurologically-based confabulation. Tests of confabulation elicitation, source monitoring (reality monitoring, plus temporal and task context memory) and executive function were administered to four adolescents with ASC who had previously been noted to confabulate spontaneously in everyday life. Scores were compared to a typically developing (TD) and an ASC control group. One confabulating participant was significantly impaired at reality monitoring, and one was significantly worse at a task context test, relative to both the ASC and TD controls. Three of the confabulators showed impairment on measures of executive function (Brixton test; Cognitive Estimates test; Hayling Test B errors) relative to both control groups. Three were significantly poorer than the TD controls on two others (Hayling A and B times), but the ASC control group was also significantly slower at this test than the TD controls. Compared to TD controls, two of the four confabulating participants produced an abnormal number of confabulations during a confabulation elicitation questionnaire, where the ASC controls and TD controls did not differ from each other. These results raise the possibility that in at least some cases, confabulation in autism may be less related to social factors than it is to impaired source memory or poor executive function.
