1. Burger BJ, Rose S, Bennuri SC, Gill PS, Tippett ML, Delhey L, Melnyk S, Frye RE. {{Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction}}. {Front Pediatr}. 2017; 5: 219.
The prevalence of autism spectrum disorder (ASD) is high, yet the etiology of this disorder is still uncertain. Advancements in genetic analysis have provided the ability to identify potential genetic changes that may contribute to ASD. Interestingly, several genetic syndromes have been linked to metabolic dysfunction, suggesting an avenue for treatment. In this case study, we report siblings with ASD who had similar initial phenotypic presentations. Whole exome sequencing (WES) revealed a novel c.795delT mutation in the WDR45 gene affecting the girl, which was consistent with her eventual progression to a Rett-like syndrome phenotype including seizures along with a stereotypical cyclic breathing pattern. Interestingly, WES identified that the brother harbored a novel heterozygous Y1546H variant in the DEP domain-containing protein 5 (DEPDC5) gene, consistent with his presentation. Both siblings underwent a metabolic workup that demonstrated different patterns of mitochondrial dysfunction. The girl demonstrated statistically significant elevations in mitochondrial activity of complex I + III in both muscle and fibroblasts and increased respiration in peripheral blood mononuclear cells (PBMCs) on Seahorse Extracellular Flux analysis. The boy demonstrates a statistically significant decrease in complex IV activity in buccal epithelium and decreased respiration in PBMCs. These cases highlight the differences in genetic abnormalities even in siblings with ASD phenotypes as well as highlights the individual role of novel mutations in the WDR45 and DEPDC5 genes. These cases demonstrate the importance of advanced genetic testing combined with metabolic evaluations in the workup of children with ASD.
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2. Burt A, Hugrass L, Frith-Belvedere T, Crewther D. {{Insensitivity to Fearful Emotion for Early ERP Components in High Autistic Tendency Is Associated with Lower Magnocellular Efficiency}}. {Front Hum Neurosci}. 2017; 11: 495.
Low spatial frequency (LSF) visual information is extracted rapidly from fearful faces, suggesting magnocellular involvement. Autistic phenotypes demonstrate altered magnocellular processing, which we propose contributes to a decreased P100 evoked response to LSF fearful faces. Here, we investigated whether rapid processing of fearful facial expressions differs for groups of neurotypical adults with low and high scores on the Autistic Spectrum Quotient (AQ). We created hybrid face stimuli with low and high spatial frequency filtered, fearful, and neutral expressions. Fearful faces produced higher amplitude P100 responses than neutral faces in the low AQ group, particularly when the hybrid face contained a LSF fearful expression. By contrast, there was no effect of fearful expression on P100 amplitude in the high AQ group. Consistent with evidence linking magnocellular differences with autistic personality traits, our non-linear VEP results showed that the high AQ group had higher amplitude K2.1 responses than the low AQ group, which is indicative of less efficient magnocellular recovery. Our results suggest that magnocellular LSF processing of a human face may be the initial visual cue used to rapidly and automatically detect fear, but that this cue functions atypically in those with high autistic tendency.
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3. Daniels J, Schwartz J, Albert N, Du M, Wall DP. {{The GapMap project: a mobile surveillance system to map diagnosed autism cases and gaps in autism services globally}}. {Mol Autism}. 2017; 8: 55.
Although the number of autism diagnoses is on the rise, we have no evidence-based tracking of size and severity of gaps in access to autism-related resources, nor do we have methods to geographically triangulate the locations of the widest gaps in either the US or elsewhere across the globe. To combat these related issues of (1) mapping diagnosed cases of autism and (2) quantifying gaps in access to key intervention services, we have constructed a crowd-based mobile platform called « GapMap » (http://gapmap.stanford.edu) for real-time tracking of autism prevalence and autism-related resources that can be accessed from any mobile device with cellular or wireless connectivity. Now in beta, our aim is for this Android/iOS compatible mobile tool to simultaneously crowd-enroll the massive and growing community of families with autism to capture geographic, diagnostic, and resource usage information while automatically computing prevalence at granular geographical scales to yield a more complete and dynamic understanding of autism resource epidemiology.
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4. Duvekot J, van der Ende J, Verhulst FC, Greaves-Lord K. {{Examining bidirectional effects between the autism spectrum disorder (ASD) core symptom domains and anxiety in children with ASD}}. {J Child Psychol Psychiatry}. 2017.
BACKGROUND: Although a bidirectional relationship between autism spectrum disorder (ASD) and anxiety symptoms is assumed, few studies have investigated this. Moreover, little is known about potential differential relationships of the two core symptom domains of ASD – social communication impairment and restricted, repetitive behavior – with anxiety over time. METHOD: Participants were 130 children with an ASD (M age 6.7 years, 81.5% boys) of whom 79 participated in a follow-up assessment 2 years later. We used cross-lagged models to test whether social communication impairment and restricted, repetitive behavior at T0 predicted anxiety at T2 and vice versa. RESULTS: Crossed-lagged models showed that anxiety symptoms predicted social communication impairment over time (beta = .22, p = .008), but not vice versa (beta = -.07, p = .49). There were no significant paths from anxiety symptoms to later restricted, repetitive behavior (beta = .11, p = .34) or vice versa (beta = -.11, p = .27). CONCLUSIONS: Our results do not support a bidirectional relationship between the ASD core symptom domains and anxiety, but suggest that higher levels of anxiety symptoms increase the risk of more social communication impairment over time in children with ASD. This underlines the importance of treating anxiety symptoms to improve both social and emotional functioning.
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5. Hand BN, Lane AE, De Boeck P, Basso DM, Nichols-Larsen DS, Darragh AR. {{Caregiver Burden Varies by Sensory Subtypes and Sensory Dimension Scores of Children with Autism}}. {J Autism Dev Disord}. 2017.
Understanding characteristics associated with burden in caregivers of children with autism spectrum disorder (ASD) is critical due to negative health consequences. We explored the association between child sensory subtype, sensory dimension scores, and caregiver burden. A national survey of caregivers of children with ASD aged 5-13 years was conducted (n = 367). The relationship between variables of interest and indicators of caregiver burden, including health-related quality of life (HRQOL) and caregiver strain, was examined with canonical correlation analyses. Caregiver strain was, but caregiver HRQOL was not, significantly associated with child sensory subtype and sensory dimension scores. Caregiver age, child age, and household income were also associated with caregiver strain. Potential explanatory mechanisms for these findings, derived from published qualitative studies, are discussed.
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6. Hochhauser M, Aran A, Grynszpan O. {{How Adolescents with Autism Spectrum Disorder (ASD) Spontaneously Attend to Real-World Scenes: Use of a Change Blindness Paradigm}}. {J Autism Dev Disord}. 2017.
Visual attention of adolescents with autism spectrum disorder (ASD) was assessed using a change blindness paradigm. Twenty-five adolescents with ASD aged 12-18 years and 25 matched typically developing (TD) adolescents viewed 36 pairs of digitized real-world images. Each pair of images was displayed in a ‘flicker paradigm’ whereby a particular item alternately appeared and disappeared. This item was either a central or a marginal detail of the scene. Change detection response times were measured and compared between groups. Marginal details were more difficult to detect than central details of the scenes in both groups, however, the response times of the ASD group were lower than the TD group. These results challenge the hypothesis of superior visual detection in ASD.
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7. Houghton K, Schuchard J, Lewis C, Thompson CK. {{Corrigendum to « Promoting child-initiated social-communication in children with autism: Son-rise program intervention effects » [J. Commun. Disord. 46/5-6 (2013) 495-506]}}. {J Commun Disord}. 2017; 70: 61.
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8. Korzeniewski SJ. {{Why Stratify Autism Spectrum Disorder by Co-Occurrence with Intellectual Disability?}}. {Paediatr Perinat Epidemiol}. 2017; 31(6): 595-7.
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9. Maloret P, Scott T. {{Don’t ask me what’s the matter, ask me what matters: Acute mental health facility experiences of people living with autism spectrum conditions}}. {J Psychiatr Ment Health Nurs}. 2017.
WHAT IS KNOWN ON THE SUBJECT?: There is a growing body of evidence that many people with an autism spectrum condition suffer anxiety in their daily life and a realization among practitioners that admission to a mental health unit for this population is usually a negative anxiety-inducing experience. Anxiety is driven by the intolerance of uncertainty that is being unsure of what is going to happen, how long the uncertainty will exist and the insistence of sameness which, when compromised, can be anxiety provoking. Equally, confusion in understanding personal emotional responses and those of others is a source of anxiety. WHAT THIS PAPER ADDS TO EXISTING KNOWLEDGE?: This paper builds upon existing understanding of anxiety as a causative factor of mental ill-health for people with an autism spectrum condition. Specifically, this paper explores the potentially anxiety-inducing experience of mental health unit admission; how anxiety is felt, triggered, expressed and managed. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: As many different anxiety responses could be exhibited during hospitalization, including violent acts and self-harming, for mental health practitioners working in the inpatient units, it is essential that the thoughts, feelings and responses of the patient with an autistic spectrum condition (ASC) are better understood and that support offered during their stay in a mental health facility is from an informed position. ABSTRACT: Background This qualitative study explored how mental health inpatients with autistic spectrum conditions (ASCs) experience and cope with anxiety when admitted to an acute mental health inpatient facility in the United Kingdom. Anxiety is a common characteristic for people who live with ASCs and whilst a plethora of studies on anxiety in this population is published which correlate anxiety with mental health service experience, little is known about the actual triggers of anxiety and its manifestations. This study adds to a body of evidence which considers anxiety experienced by people with autism. The rationale for this study includes the need to heighten mental health practitioners’ understanding, of the responses, motivations to engage and support required to overcome fears and anxieties when admitted to a mental health inpatient unit. Method The study used a qualitative naturalistic research design, to explore the emotional and psychological experiences of being a mental health inpatient living with an ASC. During 2015-2017. audio-recorded semistructured interviews captured the experiences of 20 adults from the east of England who were former psychiatric inpatients with an established diagnosis of ASC. Interpretative phenomenological analysis enabled the identification of broad themes which explained in rich detail, participant reflections regarding the situations and events within the acute care mental health facility that triggered their anxiety, manifestations of anxiety and responses to their anxiety. Findings Broad response patterns were identified that could be associated with their anxiety that is isolating themselves from others, including patients and staff, ceasing to eat and sleep adequately and all too often self-harming or exhibiting aggressive and violent responses. Conclusions The anxiety caused by the physical environment appears to be overlooked by mental health practitioners so attention to anxiety-inducing encounters is needed when planning acute care mental health service improvement and research is required to clearly understand the experiences of this vulnerable group.
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10. Prelock PA, Potvin MC, Savard L. {{Interprofessional Education and Practice: A Family-Centered Approach to Autism}}. {Semin Speech Lang}. 2017; 38(5): 360-7.
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11. Rani V, Gautam S, Rawat JK, Singh M, Devi U, Yadav RK, Roy S, Kaithwas G. {{Effects of minocycline and doxycycline against terbutaline induced early postnatal autistic changes in albino rats}}. {Physiol Behav}. 2018; 183: 49-56.
The current study was initiated to explicate the shielding response of minocycline and doxycycline against early postnatal neurological damage and behavioral alteration convinced by terbutaline. Toxicity was induced by terbutaline at three successive days in the pups. The pups were scrutinized for behavioral, biochemical and inflammatory markers. Subsequent treatment with test drugs commenced a favorable effect on the autistic symptoms with more safeguard by doxycycline. The study also recognized peripheral inflammatory reactions and increased nitric oxide (NO) through terbutaline which was curtailed down by test drugs, with the much more noticeable effect of doxycycline. The GC-FID analysis and histopathological evaluation of the brain tissue elicited more pronounced protection by doxycycline. Doxycycline was also evident with remarkable down-regulation Pgp 9.5 [Ubiquitin carboxy-terminal hydrolase L1 (UCHL-1)] expression in the brain tissue in comparison to minocycline.
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12. Sanz-Cervera P, Pastor-Cerezuela G, Gonzalez-Sala F, Tarraga-Minguez R, Fernandez-Andres MI. {{Sensory Processing in Children with Autism Spectrum Disorder and/or Attention Deficit Hyperactivity Disorder in the Home and Classroom Contexts}}. {Front Psychol}. 2017; 8: 1772.
Children with neurodevelopmental disorders often show impairments in sensory processing (SP) and higher functions. The main objective of this study was to compare SP, praxis and social participation (SOC) in four groups of children: ASD Group (n = 21), ADHD Group (n = 21), ASD+ADHD Group (n = 21), and Comparison Group (n = 27). Participants were the parents and teachers of these children who were 5-8 years old (M = 6.32). They completed the Sensory Processing Measure (SPM) to evaluate the sensory profile, praxis and SOC of the children in both the home and classroom contexts. In the home context, the most affected was the ASD+ADHD group. The ADHD group obtained higher scores than the ASD group on the Body Awareness (BOD) subscale, indicating a higher level of dysfunction. The ASD group, however, did not obtain higher scores than the ADHD group on any subscale. In the classroom context, the most affected were the two ASD groups: the ASD+ADHD group obtained higher scores than the ADHD group on the Hearing (HEA) and Social Participation (SOC) subscales, and the ASD group obtained higher scores than the ADHD group on the SOC subscale. Regarding sensory modalities, difficulties in proprioception seem to be more characteristic to the ADHD condition. As for higher-level functioning, social difficulties seem to be more characteristic to the ASD condition. Differences between the two contexts were only found in the ASD group, which could be related to contextual hyperselectivity, an inherent autistic feature. Despite possible individual differences, specific intervention programs should be developed to improve the sensory challenges faced by children with different diagnoses.
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13. Solomon M, Iosif AM, Reinhardt VP, Libero LE, Nordahl CW, Ozonoff S, Rogers SJ, Amaral DG. {{What will my child’s future hold? phenotypes of intellectual development in 2-8-year-olds with autism spectrum disorder}}. {Autism Res}. 2017.
We examined phenotypes of autism spectrum disorder (ASD) based on trajectories of intellectual development from early (ages 2-3 (1/2)) to middle (ages 5-8) childhood in a recent clinically ascertained cohort. Participants included 102 children (82 males) initially diagnosed with ASD from the Autism Phenome Project longitudinal sample. Latent class growth analysis was used to identify distinct IQ trajectories. Baseline and developmental course differences among groups were assessed using univariate techniques and repeated measures regression models, respectively. A four class model best represented the data. Using the highest posterior probability, participants were assigned to High Challenges (25.5%), Stable Low (17.6%), Changers (35.3%), and Lesser Challenges (21.6%) groups. The High Challenges and Stable Low groups exhibited persistently low IQ, although, the High Challenges group experienced declines while the Stable Low group’s scores remained more constant. Changers showed IQ improvement of > 2 standard deviations. The Lesser Challenges group had IQs in the average range at both times that were about 1 standard deviation higher at T2. In summation, 75% of the participants experienced some relative improvements in intellectual and/or other areas of functioning between ages 2 and 8 years. The Changers group demonstrated the most significant IQ change that was accompanied by adaptive communication improvement and declining externalizing symptoms. Only the Lesser Challenges group showed a significant reduction in ASD symptom severity, such that by age 8, 14% of them no longer met ADOS-2 criteria for ASD. All groups showed reductions in internalizing symptoms. Intervention history was not associated with group status. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We examined how the IQs of children with autism spectrum disorder change between ages 2 and 8, and identified four patterns. Two groups exhibited persistently lower IQs. One group showed IQ increases of greater than 30 points with improved communicate abilities and declining disruptive behaviors. The final group had IQs in the average or better range at both time points, and 14% of them lost their diagnoses. Over half of the children experienced improved intellectual functioning between ages 2 and 8, whereas about 25% showed declines. Findings were not associated with intervention history.
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14. Suhaib F, Saeed A, Gul H, Kaleem M. {{Oral assessment of children with autism spectrum disorder in Rawalpindi, Pakistan}}. {Autism}. 2017: 1362361317730299.
Comparison of oral health status, dental needs and dietary habits of children with autism and their healthy siblings. In this cross-sectional study, oral hygiene measures, sugar consumption and dental examination of 58 Pakistani children with autism spectrum disorder were assessed and compared to 27 of their siblings without autism spectrum disorder. Questionnaires were distributed to their parents regarding oral hygiene measures, dietary habits and past dental experiences. Clinical examination for the presence of dental caries, periodontal disease or parafunctional habits was carried out and findings were associated with the mother’s education. Children with autism had a higher incidence of caries (50%) as compared to their healthy siblings (22.2%). Significant differences were observed between the groups regarding frequency of brushing and independent brushing. Dental plaque was observed on anterior teeth in 24% children with autism spectrum disorder as compared to 14% in the control group. Trauma due to self-injurious behaviour and bruxism was also recorded and compliance during clinical examination was noted in children with autism spectrum disorder. There was no significant difference in sugar consumption between children with autism spectrum disorder and their healthy siblings. Children with autism had greater dental needs and were more prone to developing dental problems as compared to their healthy siblings.
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15. Tryfon A, Foster NEV, Sharda M, Hyde KL. {{Speech perception in autism spectrum disorder: An activation likelihood estimation meta-analysis}}. {Behav Brain Res}. 2018; 338: 118-27.
Autism spectrum disorder (ASD) is often characterized by atypical language profiles and auditory and speech processing. These can contribute to aberrant language and social communication skills in ASD. The study of the neural basis of speech perception in ASD can serve as a potential neurobiological marker of ASD early on, but mixed results across studies renders it difficult to find a reliable neural characterization of speech processing in ASD. To this aim, the present study examined the functional neural basis of speech perception in ASD versus typical development (TD) using an activation likelihood estimation (ALE) meta-analysis of 18 qualifying studies. The present study included separate analyses for TD and ASD, which allowed us to examine patterns of within-group brain activation as well as both common and distinct patterns of brain activation across the ASD and TD groups. Overall, ASD and TD showed mostly common brain activation of speech processing in bilateral superior temporal gyrus (STG) and left inferior frontal gyrus (IFG). However, the results revealed trends for some distinct activation in the TD group showing additional activation in higher-order brain areas including left superior frontal gyrus (SFG), left medial frontal gyrus (MFG), and right IFG. These results provide a more reliable neural characterization of speech processing in ASD relative to previous single neuroimaging studies and motivate future work to investigate how these brain signatures relate to behavioral measures of speech processing in ASD.
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16. Usher LV, Burrows CA, Messinger DS, Henderson HA. {{Metaperception in Adolescents With and Without Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
This study compared how adolescents with and without autism spectrum disorder (ASD) evaluated unfamiliar peers (i.e., perceptions), as well as how adolescents believed they were evaluated by peers (i.e., metaperceptions). The Perceptions and Metaperceptions Questionnaire was designed to quantify perceptions and metaperceptions following a live interaction. For all adolescents, more positive perceptions of the peer were associated with more positive metaperceptions. Adolescents with ASD exhibited more accurate metaperceptions than did typically developing adolescents. More positive perceptions and metaperceptions were associated with higher levels of observed social competence across groups. Findings extend our understanding of typically and atypically developing adolescents’ impressions of unfamiliar peers and their ability to discern what peers think of them.
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17. Xu X, Li C, Gao X, Xia K, Guo H, Li Y, Hao Z, Zhang L, Gao D, Xu C, Xu H, Xiong ZQ, Qiu Z, Mei L, Xie X, Ruan K, Hu R. {{Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders}}. {Cell Res}. 2017.
The autism spectrum disorders (ASDs) are a collection of human neurological disorders with heterogeneous etiologies. Hyperactivity of E3 ubiquitin (Ub) ligase UBE3A, stemming from 15q11-q13 copy number variations, accounts for 1%-3% of ASD cases worldwide, but the underlying mechanisms remain incompletely characterized. Here we report that the functionality of ALDH1A2, the rate-limiting enzyme of retinoic acid (RA) synthesis, is negatively regulated by UBE3A in a ubiquitylation-dependent manner. Excessive UBE3A dosage was found to impair RA-mediated neuronal homeostatic synaptic plasticity. ASD-like symptoms were recapitulated in mice by overexpressing UBE3A in the prefrontal cortex or by administration of an ALDH1A antagonist, whereas RA supplements significantly alleviated excessive UBE3A dosage-induced ASD-like phenotypes. By identifying reduced RA signaling as an underlying mechanism in ASD phenotypes linked to UBE3A hyperactivities, our findings introduce a new vista of ASD etiology and facilitate a mode of therapeutic development against this increasingly prevalent disease.Cell Research advance online publication 27 October 2017; doi:10.1038/cr.2017.132.
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18. Yingling ME, Hock RM, Bell BA. {{Time-Lag Between Diagnosis of Autism Spectrum Disorder and Onset of Publicly-Funded Early Intensive Behavioral Intervention: Do Race-Ethnicity and Neighborhood Matter?}}. {J Autism Dev Disord}. 2017.
Health coverage of early intensive behavioral intervention (EIBI) for children with autism spectrum disorder (ASD) is rapidly expanding across the United States. Yet we know little about the time-lag between diagnosis and treatment onset. We integrated administrative, Medicaid claims, and Census data for children in an EIBI Medicaid waiver (n = 473) to examine the relationship between time-lag and (a) child race-ethnicity and (b) neighborhood racial composition, poverty, affluence, and urbanicity. We explored whether the relationship between child race-ethnicity and time-lag varies by neighborhood characteristics. Average time-lag between diagnosis and treatment onset was nearly 3 years. Child race-ethnicity and neighborhood characteristics did not predict time-lag. Reducing time-lag is critical to ensuring that children with ASD receive treatment as early as possible.
