1. Birch RC, Cohen J, Trollor JN. {{Fragile X-associated disorders: Don’t miss them}}. {Aust Fam Physician};2017;46(7):487-491.
BACKGROUND: Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed. OBJECTIVE: The aim of this article is to describe fragile X-associated disorders and identify specific considerations for general practitioners (GPs) during identification and management of these disorders. DISCUSSION: GPs have a critical role in the identification of fragile X-associated disorders, as well as coordination of complex care needs. Prompt recognition and appropriate management of these disorders and potential medical and psychiatric comorbidities will have important implications not only for the affected patient, but also other family members who may be at risk.
2. Brewerton N, Robson K, Crittenden PM. {{Formulating autism systemically: Part 2 – A 12-year prospective case study}}. {Clin Child Psychol Psychiatry};2017 (Jul);22(3):390-401.
This prospective case study illustrates the ideas on the developmental origins of some cases of autism that were described in Part 1 of this article. We explored and found support for several systemic hypotheses regarding the experience of ‘Graeme’ and his mother. Graeme’s story is told prospectively from the age of 3 until 15. Three independent sources of information are reported: hypotheses from the literature and case review in Part 1 of this article, the school’s experience, and observations from the assessments of attachment when Graeme was turning 6. These three streams of information are integrated here. The review of the literature and clinical cases gives us a wide-angle lens, empirically supporting our focus on danger in relationships. The school’s experience describes working with a child with undiagnosed autism. The assessments of attachment both provide information about family members’ psychological strategies for protection from danger and also include the mother’s childhood history of family threat. Their synthesis permits us to construct a developmental history, from Graeme’s mother’s childhood history of being triangulated into her parents’ hidden marital discord to it’s repetition for Graeme in her own marriage. New observations included mum’s postural/gestural communication to Graeme and her possible ambivalence about males. Strikingly, Graeme was a case study (Attachment & Family Therapy, ch. 6) before he was diagnosed with autism. That presentation focused on Graeme’s feeling of rejection by his father. In the same book, an interpersonal formulation of autism was offered (ch. 3), but it was not connected to Graeme, showing that when one lacks crucial information, the clinical formulation is distorted. The crucial information in this case was the mother’s psychological history. Our case suggests that filling the blind spot in the research on autism with information about family functioning over at least two generations might change the understanding of autism in ways that could help families and their children.
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3. Bu X, Wu, Lu X, Yang L, Xu X, Wang J, Tang J. {{Role of SIRT1/PGC-1alpha in mitochondrial oxidative stress in autistic spectrum disorder}}. {Neuropsychiatr Dis Treat};2017;13:1633-1645.
Autistic spectrum disorder (ASD) is a neurodevelopmental disorder and has a high prevalence in children. Recently, mitochondrial oxidative stress has been proposed to be associated with ASD. Besides, SIRT1/PGC-1alpha signaling plays an important role in combating oxidative stress. In this study, we sought to determine the role of SIRT1/PGC-1alpha signaling in the ASD lymphoblastoid cell lines (LCLs). In this study, the mRNA and protein expressions of SIRT1/PGC-1alpha axis genes were assessed in 35 children with ASD and 35 healthy controls (matched for age, gender, and IQ). An immortalized LCL was established by transforming lymphocytes with Epstein-Barr virus. Next, we used ASD LCLs and control LCLs to detect SIRT1/PGC-1alpha axis genes expression and oxidative damage. Finally, the effect of overexpression of PGC-1alpha on oxidative injury in the ASD LCLs was determined. SIRT1/PGC-1alpha axis genes expression was downregulated at RNA and protein levels in ASD patients and LCLs. Besides, the translocation of cytochrome c and DIABLO from mitochondria to the cytosol was found in the ASD LCLs. Moreover, the intracellular reactive oxygen species (ROS) and mitochondrial ROS and cell apoptosis were increased in the ASD LCLs. However, overexpression of PGC-1alpha upregulated the SIRT1/PGC-1alpha axis genes expression and reduced cytochrome c and DIABLO release in the ASD LCLs. Also, overexpression of PGC-1alpha reduced the ROS generation and cell apoptosis in the ASD LCLs. Overexpression of PGC-1alpha could reduce the oxidative injury in the ASD LCLs, and PGC-1alpha may act as a target for treatment.
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4. Chan W, Smith LE, Hong J, Greenberg JS, Lounds Taylor J, Mailick MR. {{Factors associated with sustained community employment among adults with autism and co-occurring intellectual disability}}. {Autism};2017 (Jul 01):1362361317703760.
Sustaining community employment is a challenge for adults with autism spectrum disorders, especially for those who have co-occurring intellectual disability, but factors contributing to this employment outcome have not been fully evaluated. This study utilized longitudinal data to explore the impact of contextual influences, family factors, and individual characteristics on sustained employment over approximately 18 months ( N = 105). Very few adults with autism spectrum disorder and intellectual disability achieved sustained employment (14.3%). The results indicated that more independent daily living skills, a higher family income, a larger maternal social network, an inclusive school environment in early childhood, and currently living in an area with a larger population size were associated with significantly greater odds of sustaining employment. Follow-up analyses suggested that managing personal care is particularly important for employment.
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5. Clark GM, Lum JAG. {{Procedural learning in Parkinson’s disease, specific language impairment, dyslexia, schizophrenia, developmental coordination disorder, and autism spectrum disorders: A second-order meta-analysis}}. {Brain Cogn};2017 (Jul 12);117:41-48.
The serial reaction time task (SRTT) has been used to study procedural learning in clinical populations. In this report, second-order meta-analysis was used to investigate whether disorder type moderates performance on the SRTT. Using this approach to quantitatively summarise past research, it was tested whether autism spectrum disorder, developmental coordination disorder, dyslexia, Parkinson’s disease, schizophrenia, and specific language impairment differentially affect procedural learning on the SRTT. The main analysis revealed disorder type moderated SRTT performance (p=0.010). This report demonstrates comparable levels of procedural learning impairment in developmental coordination disorder, dyslexia, Parkinson’s disease, schizophrenia, and specific language impairment. However, in autism, procedural learning is spared.
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6. Constantino JN, Kennon-McGill S, Weichselbaum C, Marrus N, Haider A, Glowinski AL, Gillespie S, Klaiman C, Klin A, Jones W. {{Infant viewing of social scenes is under genetic control and is atypical in autism}}. {Nature};2017 (Jul 12)
Long before infants reach, crawl or walk, they explore the world by looking: they look to learn and to engage, giving preferential attention to social stimuli, including faces, face-like stimuli and biological motion. This capacity-social visual engagement-shapes typical infant development from birth and is pathognomonically impaired in children affected by autism. Here we show that variation in viewing of social scenes, including levels of preferential attention and the timing, direction and targeting of individual eye movements, is strongly influenced by genetic factors, with effects directly traceable to the active seeking of social information. In a series of eye-tracking experiments conducted with 338 toddlers, including 166 epidemiologically ascertained twins (enrolled by representative sampling from the general population), 88 non-twins with autism and 84 singleton controls, we find high monozygotic twin-twin concordance (0.91) and relatively low dizygotic concordance (0.35). Moreover, the characteristics that are the most highly heritable, preferential attention to eye and mouth regions of the face, are also those that are differentially decreased in children with autism (chi2 = 64.03, P < 0.0001). These results implicate social visual engagement as a neurodevelopmental endophenotype not only for autism, but also for population-wide variation in social-information seeking. In addition, these results reveal a means of human biological niche construction, with phenotypic differences emerging from the interaction of individual genotypes with early life experience. Lien vers le texte intégral (Open Access ou abonnement)
7. Crittenden PM. {{Formulating autism systemically: Part 1 – A review of the published literature and case assessments}}. {Clin Child Psychol Psychiatry};2017 (Jul);22(3):378-389.
Autism is a psychiatric disorder of unknown aetiology. In this article, the literature on genetic, neurological, psychological, relational and cultural causes of autism is reviewed, beginning with the 2014 review of Crittenden, Dallos, Landini et al. (pp. 64-70) up to and including recent publications in 2017. Some of the findings were unexpected; others led to new questions. The unexpected findings were the minimal contribution of genes to autism, the extremely evident neurological differences, the interpersonal quality of the psychological findings (that lacked evidence of parents’ behaviour), the relational evidence that mothers’ childhood trauma, perinatal stress and marital stress increased the risk of autism, and the reciprocal relation between funding for treatment of autism and diagnoses of autism. Notably, there was an abundance of genetic studies, numerous neurological studies and only scattered psychological, relational and cultural studies, thus rendering those findings speculative. The new questions included whether mothers used postural/gestural signs to signal their children to maintain distance and whether mothers experienced wariness of males as a result of childhood trauma, with their sons possibly experiencing gender confusion. Following the literature review, a small archival set of video-recorded and transcribed assessments of attachment of cases of autism were examined for evidence to corroborate or refute the psychological and relational findings of the literature review. The findings were striking in their support of mothers’ use of postural/gestural communication regarding distance, children’s close attention to mothers’ bodily signals, without looking at mothers’ face, mothers’ greater comfort when they approached their sons than when their sons approached them, one boy’s lack of verbal self-representation and mothers’ childhood triangulation. These became hypotheses regarding what to look for in Part 2 of this article, a prospective, 12-year case study.
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8. Dickinson A, DiStefano C, Senturk D, Spurling Jeste S. {{Peak alpha frequency is a neural marker of cognitive function across the autism spectrum}}. {Eur J Neurosci};2017 (Jul 12)
Cognitive function varies substantially and serves as a key predictor of outcome and response to intervention in autism spectrum disorder (ASD), yet we know little about the neurobiological mechanisms that underlie cognitive function in children with ASD. The dynamics of neuronal oscillations in the alpha range (6-12 Hz) are associated with cognition in typical development. Peak alpha frequency is also highly sensitive to developmental changes in neural networks which underlie cognitive function, and therefore it holds promise as a developmentally-sensitive neural marker of cognitive function in ASD. Here, we measured peak alpha band frequency under a task-free condition in a heterogeneous sample of children with ASD (N=59) and age-matched typically developing (TD) children (N=38). At a group level, peak alpha frequency was decreased in ASD compared to TD children. Moreover, within the ASD group, peak alpha frequency correlated strongly with non-verbal cognition. As peak alpha frequency reflects the integrity of neural networks, our results suggest that deviations in network development may underlie cognitive function in individuals with ASD. By shedding light on the neurobiological correlates of cognitive function in ASD, our findings lay the groundwork for considering peak alpha frequency as a useful biomarker of cognitive function within this population which, in turn, will facilitate investigations of early markers of cognitive impairment and predictors of outcome in high risk infants. This article is protected by copyright. All rights reserved.
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9. Ellis Weismer S, Davidson MM, Gangopadhyay I, Sindberg H, Roebuck H, Kaushanskaya M. {{The role of nonverbal working memory in morphosyntactic processing by children with specific language impairment and autism spectrum disorders}}. {J Neurodev Disord};2017;9:28.
BACKGROUND: Both children with autism spectrum disorders (ASD) and children with specific language impairment (SLI) have been shown to have difficulties with grammatical processing. A comparison of these two populations with neurodevelopmental disorders was undertaken to examine similarities and differences in the mechanisms that may underlie grammatical processing. Research has shown that working memory (WM) is recruited during grammatical processing. The goal of this study was to examine morphosyntactic processing on a grammatical judgment task in children who varied in clinical diagnosis and language abilities and to assess the extent to which performance is predicted by nonverbal working memory (WM). Two theoretical perspectives were evaluated relative to performance on the grammatical judgment task-the « working memory » account and the « wrap-up » account. These accounts make contrasting predictions about the detection of grammatical errors occurring early versus late in the sentence. METHODS: Participants were 84 school-age children with SLI (n = 21), ASD (n = 27), and typical development (TD, n = 36). Performance was analyzed based on diagnostic group as well as language status (normal language, NL, n = 54, and language impairment, LI, n = 30). A grammatical judgment task was used in which the position of the error in the sentence (early versus late) was manipulated. A visual WM task (N-back) was administered and the ability of WM to predict morphosyntactic processing was assessed. RESULTS: Groups differed significantly in their sensitivity to grammatical errors (TD > SLI and NL > LI) but did not differ in nonverbal WM. Overall, children in all groups were more sensitive and quicker at detecting errors occurring late in the sentence than early in the sentence. Nonverbal WM predicted morphosyntactic processing across groups, but the specific profile of association between WM and early versus late error detection was reversed for children with and without language impairment. CONCLUSIONS: Findings primarily support a « wrap up » account whereby the accumulating sentence context for errors positioned late in the sentence (rather than early) appeared to facilitate morphosyntactic processing. Although none of the groups displayed deficits in visual WM, individual differences in these nonverbal WM resources predicted proficiency in morphosyntactic processing.
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10. Engineer CT, Hays SA, Kilgard MP. {{Vagus nerve stimulation as a potential adjuvant to behavioral therapy for autism and other neurodevelopmental disorders}}. {J Neurodev Disord};2017;9:20.
BACKGROUND: Many children with autism and other neurodevelopmental disorders undergo expensive, time-consuming behavioral interventions that often yield only modest improvements. The development of adjunctive interventions that can increase the benefit of rehabilitation therapies is essential in order to improve the lives of individuals with neurodevelopmental disorders. MAIN TEXT: Vagus nerve stimulation (VNS) is an FDA approved therapy that is safe and effective in reducing seizure frequency and duration in individuals with epilepsy. Individuals with neurodevelopmental disorders often exhibit decreased vagal tone, and studies indicate that VNS can be used to overcome an insufficient vagal response. Multiple studies have also documented significant improvements in quality of life after VNS therapy in individuals with neurodevelopmental disorders. Moreover, recent findings indicate that VNS significantly enhances the benefits of rehabilitative training in animal models and patients, leading to greater recovery in a variety of neurological diseases. Here, we review these findings and provide a discussion of how VNS paired with rehabilitation may yield benefits in the context of neurodevelopmental disorders. CONCLUSIONS: VNS paired with behavioral therapy may represent a potential new approach to enhance rehabilitation that could significantly improve the outcomes of individuals with neurodevelopmental disorders.
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11. Gottlieb B. {{Postzygotic single nucleotide mosaicisms and autism risk}}. {Hum Mutat};2017 (Aug);38(8):904.
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12. Hancock GIP, Stokes MA, Mesibov GB. {{Socio-sexual functioning in autism spectrum disorder: A systematic review and meta-analyses of existing literature}}. {Autism Res};2017 (Jul 10)
Socio-sexual functioning encompasses an individual’s interests, behaviors, and knowledge with respect to sexual, romantic, and social aspects of life. An individual’s understanding of these domains is developed through a range of informal and formal avenues of sexual health education. The current model demonstrated this and proposed that, compared to typically developing individuals, those with ASD develop socio-sexual functioning differently due to having less peer engagement, less relationship experience, more parental guidance, greater use of online materials, receive less school-based sexual health education, and more support from wellbeing services. Systematic review and meta-analysis of existing literature revealed that individuals with ASD have greater difficultly adhering to privacy norms, engage in less social behavior, are described as engaging in less appropriate sexual behavior, have greater concerns about themselves, and receive less sexual health education. Having fewer opportunities for appropriate informal and formal sexual health education leaves them at a double disadvantage from others who are receiving this information from both of these avenues. Some of the current meta-analytic results are cautioned by large l-square statistics which suggest that a degree of variance is being caused by extraneous factors. Further empirical research in this area is needed to overcome current design and sample limitations. Finally, the Sexual Behavior Scale was the most commonly utilized tool in the meta-analyzed studies, thus comprehensive evaluation of its functioning is warranted. The importance of work in this area is highlighted by the central role of social and sexual wellbeing on one’s quality of life. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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13. Ingersoll B, Shannon K, Berger N, Pickard K, Holtz B. {{Self-Directed Telehealth Parent-Mediated Intervention for Children With Autism Spectrum Disorder: Examination of the Potential Reach and Utilization in Community Settings}}. {J Med Internet Res};2017 (Jul 12);19(7):e248.
BACKGROUND: There is a significant need for strategies to increase access to evidence-based interventions for children with autism spectrum disorder (ASD). One novel approach is to train parents to use evidence-based interventions for their child with ASD via telehealth. Pilot work examining the efficacy of one such program, ImPACT Online, demonstrated a high rate of parent program engagement, low attrition, and associated gains in parent learning and child social communication. OBJECTIVE: The objective of this study was to conduct an open trial of ImPACT Online to better understand its dissemination potential. METHODS: We examined the reach and representativeness of families who registered (n=36) compared to families who were referred (n=139) to the open trial for one referral site. We then compared the demographics of all families who enrolled in the open trial (n=112) to families who enrolled in one of two controlled trials of the same program (n=50). We also examined metrics of program engagement for the open and controlled trials, the relationship between program engagement and changes in parents’ intervention knowledge, and program evaluation for the participants in the open trial. RESULTS: In total, 25.8% (36/139) of the parents who were given information about the program at their child’s diagnostic feedback session registered with the program. The parents who enrolled in the open (OT) and controlled trials (CT), respectively, were similar in gender (OT: 84.8% (95/112); CT: 88% (44/50), female), marital status (OT: 80.4% (90/112) ; CT: 69.6% (32/46), married), education (OT: 58.0% (65/112); CT: 54.0% (27/50), college degree or higher), and employment status (OT: 58.0% (65/112); CT: 65.3% (32/49), employed outside the home). The child participants were similar in terms of gender (OT: 83.0% (93/112); CT: 76.0% (38/50), male) and race and ethnicity (OT: 38.4% (43/112); CT: 24.0% (12/50), minority). However, the mean chronological age of the child participants in the open trial group was significantly higher (Mean=60.0 months) than in the controlled trial group (Mean=43.0 months), with t160=5.22, P<.001. Parents in the open trial engaged with the program at a significantly lower rate than the controlled trial, F3,81=21.14, P<.001. Program engagement was significantly associated with gains in parent intervention knowledge across both the groups, beta=.41, t=2.43, P=.02. Participants in the open access trial evaluated the program highly, but several barriers were noted. CONCLUSIONS: These data suggest that additional strategies may need to be developed to support families in using telehealth-based parent-mediated intervention in community settings. Lien vers le texte intégral (Open Access ou abonnement)
14. Jeffrey Farrar M, Seung HK, Lee H. {{Language and False-Belief Task Performance in Children With Autism Spectrum Disorder}}. {J Speech Lang Hear Res};2017 (Jul 12);60(7):1999-2013.
Purpose: Language is related to false-belief (FB) understanding in both typically developing children and children with autism spectrum disorder (ASD). The current study examined the role of complementation and general language in FB understanding. Of interest was whether language plays similar or different roles in the groups’ FB performance. Method: Participants were 16 typically developing children (mean age = 5.0 years; mental age = 6.7) and 18 with ASD (mean age = 7.3 years; mental age = 8.3). Children were administered FB and language tasks (say- and think-complements), receptive and expressive vocabulary tests, and relative clauses. Results: When mental age and receptive and expressive vocabulary were used as separate covariates, the typical control group outperformed the children with ASD in FB task performance. Chi-square analyses indicated that passing both complementation tasks was linked to the FB understanding of children with ASD. Children with ASD who passed FB tasks all passed say- and think-complement tasks. However, some children in the control group were able to pass the FB tasks, even if they failed the say- and think-complement tasks. Conclusion: The results indicate that children with ASD relied more on complement understanding to pass FB than typically developing children. Results are discussed regarding the developmental pathways for FB understanding.
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15. Kawada K, Mimori S, Okuma Y, Nomura Y. {{Involvement of endoplasmic reticulum stress and neurite outgrowth in the model mice of autism spectrum disorder}}. {Neurochem Int};2017 (Jul 12)
Neurodevelopmental disorders are congenital impairments, impeding the growth and development of the central nervous system. These disorders include autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder in Diagnostic and Statistical Manual of Mental Disorders-5. ASD is caused by a gene defect and chromosomal duplication. Despite numerous reports on ASD, the pathogenic mechanisms are not clear. The optimal methods to prevent ASD and to treat it are also not clear. Other studies have reported that endoplasmic reticulum (ER) stress contributes to the pathogenesis of neurodegenerative diseases. In this study, we have investigated ER stress condition and neuronal maturation in an ASD mice model employing male ICR mice. An ASD mice model was established by injecting with valproic acid (VPA) into pregnant mice. The offspring born from VPA-treated mothers were subjected to the experiments as the ASD model mice. The cerebral cortex and hippocampus of ASD model mice were found to be under high ER stress. The mRNA levels of Hes1 and Pax6 were decreased in the cerebral cortex of the ASD model mice, but not in the hippocampus. In addition, the mRNA level in Math1 was increased in the cerebral cortex. ER stress inhibited dendrite and axon extension in primary culture derived from the cerebral cortex of E14.5 mice. Furthermore, dendrite outgrowth was suppressed in primary culture derived from the cerebral cortex of ASD model mice by the same method. These results indicated the possibility that ER stress induces abnormal neuronal maturation in the embryonal cerebral cortex of ASD model mice employing male ICR mice. Therefore, ER stress may contribute to the pathogenesis of ASD.
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16. Kuhlthau KA, McDonnell E, Coury DL, Payakachat N, Macklin E. {{Associations of quality of life with health-related characteristics among children with autism}}. {Autism};2017 (Jul 01):1362361317704420.
We examine whether behavioral, mental health, and physical health characteristics of children with autism are associated with baseline and change in health-related quality of life. We measured health-related quality of life with the Pediatric Quality of Life Inventory 4.0 total scores from children enrolled in the Autism Treatment Network. We used linear mixed model regressions with random slopes. Predictors of lower health-related quality of life at baseline included demographic and insurance characteristics, diagnosis, higher Child Behavior Checklist internalizing and externalizing scores, sleep problems by Children’s Sleep Habits Questionnaire, seizures, gastrointestinal problems, and mental health problems. Several characteristics had different associations over time. This study demonstrates that in addition to behavioral and autism-related characteristics, physical and mental health conditions are associated with health-related quality of life in children with autism.
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17. Li Y, Fang H, Zheng W, Qian L, Xiao Y, Wu Q, Chang C, Xiao C, Chu K, Ke X. {{A Fiber Tractography Study of Social-Emotional Related Fiber Tracts in Children and Adolescents with Autism Spectrum Disorder}}. {Neurosci Bull};2017 (Jul 10)
The symptoms of autism spectrum disorder (ASD) have been hypothesized to be caused by changes in brain connectivity. From the clinical perspective, the « disconnectivity » hypothesis has been used to explain characteristic impairments in « socio-emotional » function. Therefore, in this study we compared the facial emotional recognition (FER) feature and the integrity of social-emotional-related white-matter tracts between children and adolescents with high-functioning ASD (HFA) and their typically developing (TD) counterparts. The correlation between the two factors was explored to find out if impairment of the white-matter tracts is the neural basis of social-emotional disorders. Compared with the TD group, FER was significantly impaired and the fractional anisotropy value of the right cingulate fasciculus was increased in the HFA group (P < 0.01). In conclusion, the FER function of children and adolescents with HFA was impaired and the microstructure of the cingulate fasciculus had abnormalities. Lien vers le texte intégral (Open Access ou abonnement)
18. Liu R, Salisbury JP, Vahabzadeh A, Sahin NT. {{Feasibility of an Autism-Focused Augmented Reality Smartglasses System for Social Communication and Behavioral Coaching}}. {Front Pediatr};2017;5:145.
BACKGROUND: Autism spectrum disorder (ASD) is a childhood-onset neurodevelopmental disorder with a rapidly rising prevalence, currently affecting 1 in 68 children, and over 3.5 million people in the United States. Current ASD interventions are primarily based on in-person behavioral therapies that are both costly and difficult to access. These interventions aim to address some of the fundamental deficits that clinically characterize ASD, including deficits in social communication, and the presence of stereotypies, and other autism-related behaviors. Current diagnostic and therapeutic approaches seldom rely on quantitative data measures of symptomatology, severity, or condition trajectory. METHODS: Given the current situation, we report on the Brain Power System (BPS), a digital behavioral aid with quantitative data gathering and reporting features. The BPS includes customized smartglasses, providing targeted personalized coaching experiences through a family of gamified augmented-reality applications utilizing artificial intelligence. These applications provide children and adults with coaching for emotion recognition, face directed gaze, eye contact, and behavioral self-regulation. This preliminary case report, part of a larger set of upcoming research reports, explores the feasibility of the BPS to provide coaching in two boys with clinically diagnosed ASD, aged 8 and 9 years. RESULTS: The coaching intervention was found to be well tolerated and rated as being both engaging and fun. Both males could easily use the system, and no technical problems were noted. During the intervention, caregivers reported improved non-verbal communication, eye contact, and social engagement during the intervention. Both boys demonstrated decreased symptoms of ASD, as measured by the aberrant behavior checklist at 24-h post-intervention. Specifically, both cases demonstrated improvements in irritability, lethargy, stereotypy, hyperactivity/non-compliance, and inappropriate speech. CONCLUSION: Smartglasses using augmented reality may have an important future role in helping address the therapeutic needs of children with ASD. Quantitative data gathering from such sensor-rich systems may allow for digital phenotyping and the refinement of social communication constructs of the research domain criteria. This report provides evidence for the feasibility, usability, and tolerability of one such specialized smartglasses system.
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19. McPartland JC. {{Developing Clinically Practicable Biomarkers for Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jul 10)
Despite significant advances in understanding the biological bases of autism spectrum disorder (ASD), the field remains primarily reliant on observational and parent report measures of behavior to guide clinical practice, conduct research, and evaluate intervention outcomes. There is a critical need for objective measures to more sensitively and validly quantify risk for ASD, ASD symptomatology, and its change in clinical trials. To maximize public health impact, such biomarkers must be cost effective and utilize accessible and scalable technologies. This letter describes concerns specific to the development of clinically practicable biomarkers for ASD and approaches to optimize understanding of these biomarkers through development of large-scale consortia and clinical networks.
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20. Miranda A, Berenguer C, Rosello B, Baixauli I, Colomer C. {{Social Cognition in Children with High-Functioning Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder. Associations with Executive Functions}}. {Front Psychol};2017;8:1035.
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are neurodevelopmental disorders characterized by social impairments. The first objective of this study was to analyze social cognition deficits of children with ADHD, high-functioning ASD (HFASD), and typical development (TD) in their performance on explicit and applied measures of theory of mind (ToM). The second objective was to investigate the relationships between executive functions and social cognition in HFASD and ADHD. One hundred and twenty-six 7- to 11-year old children, 52 with HFASD, 35 with ADHD, and 39 with TD, performed the NEPSY-II social perception subtests. Parents estimated their children’s ToM skills using the Theory of Mind Inventory (ToMI). Teacher-reported data from the Behavior Rating Inventory of Executive Function (BRIEF) were also obtained. The HFASD and ADHD groups showed worse performance on the verbal ToM task than the TD group, and only the performance of the HFASD group was significantly lower than the TD group on the contextual ToM task. Parents also estimated that the HFASD group had more difficulties on the applied ToM than the ADHD and TD groups. Furthermore, there is a different executive function-theory of mind link in the HFASD and ADHD groups: behavioral regulation processes such as inhibition and emotional control are more associated with social cognition in children with ADHD, whereas metacognitive processes such as initiation and planning have a strong association with social cognition in children with HFASD. These findings have implications for understanding social perception deficits in neurodevelopmental disorders, highlighting the need for early intervention.
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21. Nakai N, Nagano M, Saitow F, Watanabe Y, Kawamura Y, Kawamoto A, Tamada K, Mizuma H, Onoe H, Watanabe Y, Monai H, Hirase H, Nakatani J, Inagaki H, Kawada T, Miyazaki T, Watanabe M, Sato Y, Okabe S, Kitamura K, Kano M, Hashimoto K, Suzuki H, Takumi T. {{Serotonin rebalances cortical tuning and behavior linked to autism symptoms in 15q11-13 CNV mice}}. {Sci Adv};2017 (Jun);3(6):e1603001.
Serotonin is a critical modulator of cortical function, and its metabolism is defective in autism spectrum disorder (ASD) brain. How serotonin metabolism regulates cortical physiology and contributes to the pathological and behavioral symptoms of ASD remains unknown. We show that normal serotonin levels are essential for the maintenance of neocortical excitation/inhibition balance, correct sensory stimulus tuning, and social behavior. Conversely, low serotonin levels in 15q dup mice (a model for ASD with the human 15q11-13 duplication) result in impairment of the same phenotypes. Restoration of normal serotonin levels in 15q dup mice revealed the reversibility of a subset of ASD-related symptoms in the adult. These findings suggest that serotonin may have therapeutic potential for discrete ASD symptoms.
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22. Naviaux RK, Curtis B, Li K, Naviaux JC, Bright AT, Reiner GE, Westerfield M, Goh S, Alaynick WA, Wang L, Capparelli EV, Adams C, Sun J, Jain S, He F, Arellano DA, Mash LE, Chukoskie L, Lincoln A, Townsend J. {{Low-dose suramin in autism spectrum disorder: a small, phase I/II, randomized clinical trial}}. {Ann Clin Transl Neurol};2017 (Jul);4(7):491-505.
OBJECTIVE: No drug is yet approved to treat the core symptoms of autism spectrum disorder (ASD). Low-dose suramin was effective in the maternal immune activation and Fragile X mouse models of ASD. The Suramin Autism Treatment-1 (SAT-1) trial was a double-blind, placebo-controlled, translational pilot study to examine the safety and activity of low-dose suramin in children with ASD. METHODS: Ten male subjects with ASD, ages 5-14 years, were matched by age, IQ, and autism severity into five pairs, then randomized to receive a single, intravenous infusion of suramin (20 mg/kg) or saline. The primary outcomes were ADOS-2 comparison scores and Expressive One-Word Picture Vocabulary Test (EOWPVT). Secondary outcomes were the aberrant behavior checklist, autism treatment evaluation checklist, repetitive behavior questionnaire, and clinical global impression questionnaire. RESULTS: Blood levels of suramin were 12 +/- 1.5 mumol/L (mean +/- SD) at 2 days and 1.5 +/- 0.5 mumol/L after 6 weeks. The terminal half-life was 14.7 +/- 0.7 days. A self-limited, asymptomatic rash was seen, but there were no serious adverse events. ADOS-2 comparison scores improved by -1.6 +/- 0.55 points (n = 5; 95% CI = -2.3 to -0.9; Cohen’s d = 2.9; P = 0.0028) in the suramin group and did not change in the placebo group. EOWPVT scores did not change. Secondary outcomes also showed improvements in language, social interaction, and decreased restricted or repetitive behaviors. INTERPRETATION: The safety and activity of low-dose suramin showed promise as a novel approach to treatment of ASD in this small study.
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23. Nuske HJ, Hedley D, Woollacott A, Thomson P, Macari S, Dissanayake C. {{Developmental delays in emotion regulation strategies in preschoolers with autism}}. {Autism Res};2017 (Jul 11)
Children with autism spectrum disorder (ASD) commonly present with difficulty regulating negative emotions, which has been found to impact their behavioral and mental health. Little research has documented the strategies that children with ASD use to regulate their emotion to understand whether they use qualitatively different strategies to children without ASD, whether these are developmentally delayed, or both. Forty-four children with ASD and 29 typically-developing children (2-4 years) were given tasks designed to mimic everyday life experiences requiring children to manage low-level stress (e.g., waiting for a snack) and children’s emotion regulation strategies were coded. Parents reported on their child’s mental health, wellbeing, and self-development. The results suggest differences in using emotion regulation strategies in children with ASD, reflecting a delay, rather than a deviance when compared to those used by children without ASD. Only children with ASD relied on their family members for physical and communicative soothing; the typically developing children relied on people outside of their family for help regulating their emotion. More frequent approach/less frequent avoidance was related to a higher self-evaluation in both groups, but was only additionally related to higher self-recognition and autonomy in the ASD group. These findings help to identify important emotion regulation intervention targets for this population, including supporting communication with people outside of the family and independence. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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24. Parker KJ, Oztan O, Libove RA, Sumiyoshi RD, Jackson LP, Karhson DS, Summers JE, Hinman KE, Motonaga KS, Phillips JM, Carson DS, Garner JP, Hardan AY. {{Intranasal oxytocin treatment for social deficits and biomarkers of response in children with autism}}. {Proc Natl Acad Sci U S A};2017 (Jul 10)
Autism spectrum disorder (ASD) is characterized by core social deficits. Prognosis is poor, in part, because existing medications target only associated ASD features. Emerging evidence suggests that the neuropeptide oxytocin (OXT) may be a blood-based biomarker of social functioning and a possible treatment for ASD. However, prior OXT treatment trials have produced equivocal results, perhaps because of variability in patients’ underlying neuropeptide biology, but this hypothesis has not been tested. Using a double-blind, randomized, placebo-controlled, parallel design, we tested the efficacy and tolerability of 4-wk intranasal OXT treatment (24 International Units, twice daily) in 32 children with ASD, aged 6-12 y. When pretreatment neuropeptide measures were included in the statistical model, OXT compared with placebo treatment significantly enhanced social abilities in children with ASD [as measured by the trial’s primary outcome measure, the Social Responsiveness Scale (SRS)]. Importantly, pretreatment blood OXT concentrations also predicted treatment response, such that individuals with the lowest pretreatment OXT concentrations showed the greatest social improvement. OXT was well tolerated, and its effects were specific to social functioning, with no observed decrease in repetitive behaviors or anxiety. Finally, as with many trials, some placebo-treated participants showed improvement on the SRS. This enhanced social functioning was mirrored by a posttreatment increase in their blood OXT concentrations, suggesting that increased endogenous OXT secretion may underlie this improvement. These findings indicate that OXT treatment enhances social abilities in children with ASD and that individuals with pretreatment OXT signaling deficits may stand to benefit the most from OXT treatment.
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25. Pelphrey K. {{Charting a Course for Autism Biomarkers}}. {Biol Psychiatry};2017 (Aug 01);82(3):155-156.
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26. Raina SK, Chander V, Bhardwaj AK, Kumar D, Sharma S, Kashyap V, Singh M, Bhardwaj A. {{Prevalence of Autism Spectrum Disorder among Rural, Urban, and Tribal Children (1-10 Years of Age)}}. {J Neurosci Rural Pract};2017 (Jul-Sep);8(3):368-374.
INTRODUCTION: Studies on autism spectrum disorders (ASDs) have largely focused on children in specific settings. The current scenario of research in ASDs is limited largely to clinic-based case reports, case series, and retrospective chart reviews. The present study is the first population-based prevalence study conducted across rural, urban, and tribal populations in India. MATERIALS AND METHODS: A cross-sectional two-phase study was conducted covering children in the age group of 1-10 years of age across geographical regions representing rural, urban, and tribal populations. The first phase (screening phase) involved administration of the Hindi version of the Indian Scale for Assessment of Autism. Those identified as suspected of ASD and 10% of all classified as nonsuspects for autism were also evaluated by the clinical team in second phase (evaluation phase). RESULTS: Forty-three children out of a total of 28,070 children in rural, urban, and tribal area in the age group of 1-10 years were diagnosed as cases of ASD yielding a prevalence of 0.15% (95% confidence interval [CI] =0.15-0.25). Logistic regression analysis showed a two times significantly higher risk of diagnosing ASD in rural area as compared to tribal (odds ratio [OR]; 95% CI = 2.17 [1.04-4.52], P = 0.04). Male sex and upper socioeconomic group of head of family/father had a higher risk of getting diagnosed as autism as compared to lower socioeconomic group (OR; 95% CI – 3.23; 0.24-44.28, P = 0.38). CONCLUSIONS: Estimation of true prevalence of ASD in India is going to improve policies on developmental disabilities.
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27. Shelton AL, Cornish K, Fielding J. {{Long Term Verbal Memory Recall Deficits in Fragile X Premutation Females}}. {Neurobiol Learn Mem};2017 (Jul 06)
Carriers of a FMR1 premutation allele (between 55 and 199 CGG repeats) are at risk of developing a wide range of medical, psychiatric and cognitive disorders, including executive dysfunction. These cognitive deficits are often less severe for female premutation carriers compared to male premutation carriers, albeit similar in nature. However, it remains unclear whether female premutation carriers who exhibit executive dysfunction also record verbal learning and memory deficits like those of their male counterparts. Here we employed the CVLT to assess verbal learning and memory function in 19 female premutation carriers, contrasting performance with 19 age- and IQ-matched controls. Group comparisons revealed similar performance during the learning and short delay recall phases of the CVLT. However, after a long delay period, female premutation carriers remembered fewer words for both free and cued recall trials, but not during recognition trials. These findings are consistent with reports for male premutation carriers, and suggest that aspects of long term memory may be adversely affect in a subgroup of premutation carriers with signs of executive dysfunction.
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28. Sher-Censor E, Dolev S, Said M, Baransi N, Amara K. {{Coherence of Representations Regarding the Child, Resolution of the Child’s Diagnosis and Emotional Availability: A Study of Arab-Israeli Mothers of Children with ASD}}. {J Autism Dev Disord};2017 (Jul 10)
This study examined the interplay of mothers’ coherent representations of their child (i.e., multidimensional and balanced view); resolution of the child’s ASD diagnosis (i.e., acceptance); and emotional availability to the child in the unique cultural context of Arab-Israeli families. Participants were 46 mothers and their 2-8 year old sons. Coherent representations and resolution of the diagnosis were assessed using narrative measures. Emotional availability (namely, sensitivity, structuring, and lack of intrusiveness and hostility) was observed during mother-child play interactions. Results suggested that coherent and resolved mothers were more emotionally available than incoherent and/or unresolved mothers. These findings highlight the importance of supporting mothers’ ability to accept the child’s diagnosis and see the unique characteristics of the child beyond his ASD symptoms.
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29. Singh P, Ghosh S, Nandi S. {{Subjective Burden and Depression in Mothers of Children with Autism Spectrum Disorder in India: Moderating Effect of Social Support}}. {J Autism Dev Disord};2017 (Jul 10)
The quantitative study assessed subjective burden, depression, and the moderating effect of social support in mothers of children with autism spectrum disorder (ASD) in India. Seventy mothers were interviewed using a structured interview schedule, which measured their subjective burden, depression, and social support from family, friends, and significant others. Data was analyzed using descriptive statistics and multiple regression analysis with interaction terms. Half of the mothers in the study reported depression of clinical significance. Higher subjective burden significantly predicted higher depression. Of the three sources of support, only medium/high family support had a direct impact on depression and also moderated the impact of the subjective burden of depression. Implications for practice and policy are discussed.
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30. Thabrew H, Eggleston M. {{Spectrum of care: Current management of childhood autism spectrum disorder (ASD) in New Zealand}}. {Australas Psychiatry};2017 (Jul 01):1039856217716290.
OBJECTIVES: The purpose of this research was to compare the current status of assessment and intervention for New Zealand children and adolescents who have autism spectrum disorder (ASD) with recommendations outlined in the 2008 New Zealand ASD Guideline. METHODS: ASD coordinators and New Zealand District Health Board (DHB) staff working with children and adolescents who have ASD were electronically surveyed. RESULTS: Responses were received from 32 staff in 17 (85%) surveyed DHBs. Positive findings included the presence of ASD coordinators in 85% of DHBs, clear pathways for management in 73.1% of DHBs and good communications between paediatric, psychiatric and educational teams in some DHBs regions. Areas for improvement included wait times to assessment, access to longer-term support and intervention for families, and training for staff in ASD and cultural issues. CONCLUSIONS: Since the launch of the NZ ASD Guidelines, significant progress has been made. However, further work is needed to ensure services for children and adolescents with ASD are accessible, well-coordinated and focussed on both assessment and intervention.
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31. Thaler H, Skewes JC, Gebauer L, Christensen P, Prkachin KM, Jegindo Elmholdt EM. {{Typical pain experience but underestimation of others’ pain: Emotion perception in self and others in autism spectrum disorder}}. {Autism};2017 (Jul 01):1362361317701269.
Difficulties in emotion perception are commonly observed in autism spectrum disorder. However, it is unclear whether these difficulties can be attributed to a general problem of relating to emotional states, or whether they specifically concern the perception of others’ expressions. This study addressed this question in the context of pain, a sensory and emotional state with strong social relevance. We investigated pain evaluation in self and others in 16 male individuals with autism spectrum disorder and 16 age- and gender-matched individuals without autism spectrum disorder. Both groups had at least average intelligence and comparable levels of alexithymia and pain catastrophizing. We assessed pain reactivity by administering suprathreshold electrical pain stimulation at four intensity levels. Pain evaluation in others was investigated using dynamic facial expressions of shoulder patients experiencing pain at the same four intensity levels. Participants with autism spectrum disorder evaluated their own pain as being more intense than the pain of others, showing an underestimation bias for others’ pain at all intensity levels. Conversely, in the control group, self- and other evaluations of pain intensity were comparable and positively associated. Results indicate that emotion perception difficulties in autism spectrum disorder concern the evaluation of others’ emotional expressions, with no evidence for atypical experience of own emotional states.
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32. Winterer G. {{Noisy Networks and Autism}}. {Biol Psychiatry};2017 (Aug 01);82(3):152-154.
