1. An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, Klei L, Liang L, Markenscoff-Papadimitriou E, Pochareddy S, Ahituv N, Buxbaum JD, Coon H, Daly MJ, Kim YS, Marth GT, Neale BM, Quinlan AR, Rubenstein JL, Sestan N, State MW, Willsey AJ, Talkowski ME, Devlin B, Roeder K, Sanders SJ. {{Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder}}. {Science};2018 (Dec 14);362(6420)
Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding functional annotation category, analyzed in isolation, was significantly associated with ASD. Casting noncoding variation in the context of a de novo risk score across multiple annotation categories, however, did demonstrate association with mutations localized to promoter regions. We found that the strongest driver of this promoter signal emanates from evolutionarily conserved transcription factor binding sites distal to the transcription start site. These data suggest that de novo mutations in promoter regions, characterized by evolutionary and functional signatures, contribute to ASD.
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2. Arroyo ED, Fiole D, Mantri S, Huang CX, Portera-Cailliau C. {{Dendritic spines in early postnatal Fragile X mice are insensitive to novel sensory experience}}. {J Neurosci};2018 (Dec 6)
Autism spectrum disorders (ASD) are often associated with atypical sensory processing and sensory hypersensitivity, which can lead to maladaptive behaviors, such as tactile defensiveness. Such altered sensory perception in ASD could arise from disruptions in experience-dependent maturation of circuits during early brain development. Here, we tested the hypothesis that synaptic structures of primary somatosensory cortex (S1) neurons in Fragile X syndrome (FXS), which is a common inherited cause of autism, are not modulated by novel sensory information during development. We used chronic in vivo two-photon microscopy to image dendritic spines and axon ‘en passant’ boutons (EPB) of layer 2/3 pyramidal neurons in S1 of male and female wild type (WT) and Fmr1 knockout (KO) mice, a model of FXS. We found that a brief (overnight) exposure to dramatically enhanced sensory inputs in the second postnatal week led to a significant increase in spine density in WT mice, but not in Fmr1 KO mice. In contrast, axon EPB dynamics were impervious to this novel sensory experience in mice of both genotypes. We surmise that the inability of Fmr1 KO mice to modulate post-synaptic dynamics in response to increased sensory input, at a time when sensory information processing first comes online in S1 cortex, could play a role in altered sensory processing in FXS.SIGNIFICANCE STATEMENTVery few longitudinal in vivo imaging studies have investigated synaptic structure and dynamics in early postnatal mice. Moreover, those studies tend to focus on the effects of sensory input deprivation, a process that rarely occurs during normal brain development. Early postnatal imaging experiments are critical because a variety of neurodevelopmental disorders, including those characterized by autism, could result from alterations in how circuits are shaped by incoming sensory inputs during critical periods of development. In this study, we focused on a mouse model of Fragile X syndrome and demonstrate how dendritic spines are insensitive to a brief period of novel sensory experience.
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3. Asberg Johnels J, Carlsson E, Norbury C, Gillberg C, Miniscalco C. {{Current profiles and early predictors of reading skills in school-age children with autism spectrum disorders: A longitudinal, retrospective population study}}. {Autism};2018 (Dec 7):1362361318811153.
This study explores current reading profiles and concurrent and early predictors of reading in children with autism spectrum disorder. Before the age of 3 years, the study cohort underwent a neurodevelopmental assessment following identification in a population-based autism screening. At age 8 years, reading, language and cognition were assessed. Approximately half of the sample ( n = 25) were ‘poor readers’ at age 8 years, meaning that they scored below the normal range on tests of single word reading and reading comprehension. And 18 were ‘skilled readers’ performing above cut-offs. The final subgroup ( n = 10) presented with a ‘hyperlexic/poor comprehenders’ profile of normal word reading, but poor reading comprehension. The ‘poor readers’ scored low on all assessments, as well as showing more severe autistic behaviours than ‘skilled readers’. Group differences between ‘skilled readers’ and ‘hyperlexics/poor comprehenders’ were more subtle: these subgroups did not differ on autistic severity, phonological processing or non-verbal intelligence quotient, but the ‘hyperlexics/poor comprehenders’ scored significantly lower on tests of oral language. When data from age 3 were considered, no differences were seen between the subgroups in social skills, autistic severity or intelligence quotient. Importantly, however, it was possible to identify oral language weaknesses in those that 5 years later presented as ‘poor readers’ or ‘hyperlexics’.
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4. Ashwood P. {{Differential T Cell Levels of Tumor Necrosis Factor Receptor-II in Children With Autism}}. {Front Psychiatry};2018;9:543.
Autism spectrum disorders (ASD) are characterized by impairments in verbal and non-verbal communication, in social interactions, and often accompanied by stereotypical interests and behaviors. A role for immune dysfunction has long been implicated in ASD pathophysiology, behavioral severity, and co-morbidities. The pro-inflammatory cytokine tumor necrosis factor alpha (TNFalpha) has been associated with ASD in some studies but little is known about its receptors. There are two receptors for TNFalpha, with TNFRI relaying many of the signals from TNFalpha, especially those that are rapid, whilst TNFRII relays later more long-term effects of TNFalpha. Proteolytic cleavage can lead to the soluble versions of these receptors which can neutralize the effects of TNFalpha. Here, we determined levels of TNFalpha and its receptors in 36 children with a confirmed diagnosis of ASD and 27 confirmed typically developing (TD) controls, 2-5 years-of-age. Children with ASD had higher levels of TNFRII on T cells compared to controls following cell stimulation. Levels of sTNFRII were decreased in cell supernatants following stimulation in ASD. Overall these data corroborate the role of inflammatory events in ASD and align with previous studies that have shown differential changes in cellular adaptive immunity in children with ASD. Future longitudinal analyzes of cellular immune function and downstream signaling from immune receptors will help further delineate the role of inflammation in ASD.
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5. Au-Yeung SK, Bradley L, Robertson AE, Shaw R, Baron-Cohen S, Cassidy S. {{Experience of mental health diagnosis and perceived misdiagnosis in autistic, possibly autistic and non-autistic adults}}. {Autism};2018 (Dec 14):1362361318818167.
Previous research shows that autistic people have high levels of co-occurring mental health conditions. Yet, a number of case reports have revealed that mental health conditions are often misdiagnosed in autistic individuals. A total of 420 adults who identified as autistic, possibly autistic or non-autistic completed an online survey consisting of questions regarding mental health diagnoses they received, whether they agreed with those diagnoses and if not why. Autistic and possibly autistic participants were more likely to report receiving mental health diagnoses compared to non-autistic participants, but were less likely to agree with those diagnoses. Thematic analysis revealed the participants’ main reasons for disagreement were that (1) they felt their autism characteristics were being confused with mental health conditions by healthcare professionals and (2) they perceived their own mental health difficulties to be resultant of ASC. Participants attributed these to the clinical barriers they experienced, including healthcare professionals’ lack of autism awareness and lack of communication, which in turn prevented them from receiving appropriate support. This study highlights the need for autism awareness training for healthcare professionals and the need to develop tools and interventions to accurately diagnose and effectively treat mental health conditions in autistic individuals.
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6. Azhari A, Azizan F, Esposito G. {{A systematic review of gut-immune-brain mechanisms in Autism Spectrum Disorder}}. {Dev Psychobiol};2018 (Dec 6)
Despite decades of research, the etiological origins of Autism Spectrum Disorder (ASD) remain elusive. Recently, the mechanisms of ASD have encompassed emerging theories involving the gastrointestinal, immune, and nervous systems. While each of these perspectives presents its own set of supporting evidence, the field requires an integration of these modular concepts and an overarching view of how these subsystems intersect. In this systematic review, we have synthesized relevant evidences from the existing literature, evaluating them in an interdependent manner and in doing so, outlining their possible connections. Specifically, we first discussed gastrointestinal and immuno-inflammation pathways in-depth, exploring the relationships between microbial composition, bacterial metabolites, gut mucosa, and immune system constituents. Accounting for temporal differences in the mechanisms involved in neurodevelopment, prenatal and postnatal phases were further elucidated, where the former focused on maternal immune activation (MIA) and fetal development, while the latter addressed the role of immune dysregulation in contributing to atypical neurodevelopment. As autism remains, foremost, a neurodevelopmental disorder, this review presents an integration of disparate modules into a « Gut-Immune-Brain » paradigm. Existing gaps in the literature have been highlighted, and possible avenues for future research with an integrated physiological perspective underlying ASD have also been suggested.
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7. Belisle J, Stanley CR, Alholail AM, Galliford ME, Dixon MR. {{Abstraction of tactile properties by individuals with autism and down syndrome using a picture-based communication system}}. {J Appl Behav Anal};2018 (Dec 7)
The present study evaluated the efficacy of a set of procedures for bringing tact extensions of abstract tactile properties under stimulus control. Two participants with disabilities who communicated via a picture-based communication system received reinforcement for tacts of tactile properties of four wet/dry and four hard/soft stimuli. Test trials were conducted to evaluate the extent to which the participants’ correct responding generalized to novel stimuli with the same tactile properties. The results suggest that the procedures were effective in bringing tact extensions of abstract tactile properties under stimulus control. Both participants’ correct responding generalized to a set of novel stimuli. Mastery level responding to training and test targets maintained for 2 weeks following training. The results provide further evidence supporting the use of DTT to teach stimulus abstraction to nonvocal verbal individuals who use augmentative forms of communication.
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8. Bi XA, Chen J, Sun Q, Liu Y, Wang Y, Luo X. {{Analysis of Asperger Syndrome Using Genetic-Evolutionary Random Support Vector Machine Cluster}}. {Front Physiol};2018;9:1646.
Asperger syndrome (AS) is subtype of autism spectrum disorder (ASD). Diagnosis and pathological analysis of AS through resting-state fMRI data is one of the hot topics in brain science. We employed a new model called the genetic-evolutionary random Support Vector Machine cluster (GE-RSVMC) to classify AS and normal people, and search for lesions. The model innovatively integrates the methods of the cluster and genetic evolution to improve the performance of the model. We randomly selected samples and sample features to construct GE-RSVMC, and then used the cluster to classify and extract lesions according to classification results. The model was validated by data of 157 participants (86 AS and 71 health controls) in ABIDE database. The classification accuracy of the model reached to 97.5% and we discovered the brain regions with significant differences, such as the Angular gyrus (ANG.R), Precuneus (PCUN.R), Caudate nucleus (CAU.R), Cuneus (CUN.R) and so on. Our method provides a new perspective for the diagnosis and treatment of AS, and a universal framework for other brain science research as the model has excellent generalization performance.
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9. Candon MK, Barry CL, Marcus SC, Epstein AJ, Kennedy-Hendricks A, Xie M, Mandell DS. {{Insurance Mandates and Out-of-Pocket Spending for Children With Autism Spectrum Disorder}}. {Pediatrics};2018 (Dec 12)
BACKGROUND: The health care costs associated with treating autism spectrum disorder (ASD) in children can be substantial. State-level mandates that require insurers to cover ASD-specific services may lessen the financial burden families face by shifting health care spending to insurers. METHODS: We estimated the effects of ASD mandates on out-of-pocket spending, insurer spending, and the share of total spending paid out of pocket for ASD-specific services. We used administrative claims data from 2008 to 2012 from 3 commercial insurers, and took a difference-in-differences approach in which children who were subject to mandates were compared with children who were not. Because mandates have heterogeneous effects based on the extent of children’s service use, we performed subsample analyses by calculating quintiles based on average monthly total spending on ASD-specific services. The sample included 106 977 children with ASD across 50 states. RESULTS: Mandates increased out-of-pocket spending but decreased the share of spending paid out of pocket for ASD-specific services on average. The effects were driven largely by children in the highest-spending quintile, who experienced an average increase of $35 per month in out-of-pocket spending (P < .001) and a 4 percentage point decline in the share of spending paid out of pocket (P < .001). CONCLUSIONS: ASD mandates shifted health care spending for ASD-specific services from families to insurers. However, families in the highest-spending quintile still spent an average of >$200 per month out of pocket on these services. To help ease their financial burden, policies in which children with higher service use are targeted may be warranted.
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10. Carpita B, Muti D, Dell’Osso L. {{Oxidative Stress, Maternal Diabetes, and Autism Spectrum Disorders}}. {Oxid Med Cell Longev};2018;2018:3717215.
Autism spectrum disorders (ASD) are a group of early-onset neurodevelopmental conditions characterized by alterations in brain connectivity with cascading effects on neuropsychological functions. To date, in the framework of an increasing interest about environmental conditions which could interact with genetic factors in ASD pathogenesis, many authors have stressed that changes in the intrauterine environment at different stages of pregnancy, such as those linked to maternal metabolic pathologies, may lead to long-term conditions in the newborn. In particular, a growing number of epidemiological studies have highlighted the role of obesity and maternal diabetes as a risk factor for developing both somatic and psychiatric disorders in humans, including ASD. While literature still fails in identifying specific etiopathological mechanisms, a growing body of evidence is available about the presence of a relationship between maternal immune dysregulation, inflammation, oxidative stress, and the development of ASD in the offspring. In this framework, results from high-fat diet animal models about the role played by oxidative stress in shaping offspring neurodevelopment may help in clarifying the pathways through which maternal metabolic conditions are linked with ASD. The aim of this review is to provide an overview of literature about the effects of early life insults linked to oxidative stress which may be involved in ASD etiopathogenesis and how this relationship can be explained in biological terms.
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11. Cogill SB, Srivastava AK, Yang MQ, Wang L. {{Co-expression of long non-coding RNAs and autism risk genes in the developing human brain}}. {BMC Syst Biol};2018 (Dec 14);12(Suppl 7):91.
BACKGROUND: Autism Spectrum Disorder (ASD) is the umbrella term for a group of neurodevelopmental disorders convergent on behavioral phenotypes. While many genes have been implicated in the disorder, the predominant focus of previous research has been on protein coding genes. This leaves a vast number of long non-coding RNAs (lncRNAs) not characterized for their role in the disorder although lncRNAs have been shown to play important roles in development and are highly represented in the brain. Studies have also shown lncRNAs to be differentially expressed in ASD affected brains. However, there has yet to be an enrichment analysis of the shared ontologies and pathways of known ASD genes and lncRNAs in normal brain development. RESULTS: In this study, we performed co-expression network analysis on the developing brain transcriptome to identify potential lncRNAs associated with ASD and possible annotations for functional role of lncRNAs in brain development. We found co-enrichment of lncRNA genes and ASD risk genes in two distinct groups of modules showing elevated prenatal and postnatal expression patterns, respectively. Further enrichment analysis of the module groups indicated that the early expression modules were comprised mainly of transcriptional regulators while the later expression modules were associated with synapse formation. Finally, lncRNAs were prioritized for their connectivity with the known ASD risk genes through analysis of an adjacency matrix. Collectively, the results imply early developmental repression of synaptic genes through lncRNAs and ASD transcriptional regulators. CONCLUSION: Here we demonstrate the utility of mining the publically available brain gene expression data to further functionally annotate the role of lncRNAs in ASD. Our analysis indicates that lncRNAs potentially have a key role in ASD due to their convergence on shared pathways, and we identify lncRNAs of interest that may lead to further avenues of study.
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12. Corbett BA, Muscatello RA, Baldinger C. {{Comparing stress and arousal systems in response to different social contexts in children with ASD}}. {Biol Psychol};2018 (Dec 14);140:119-130.
Response to psychological stress can vary based on the extent to which the context is perceived as stressful, especially under different social conditions. The purpose of this preliminary study was to compare physiological stress (cortisol) and regulation (respiratory sinus arrhythmia, RSA) of 10-12 year old children with autism spectrum disorder (ASD, n = 31) or typical development (TD, n = 25) when exposed to two social stress protocols. The extent to which perceived emotion (affect recognition) and anxiety (state and trait) mediate the stress response was also explored. Results revealed different patterns of stress responses dependent on the type of stressor. During a friendly social interaction, both groups generally showed an adaptive, synergistic response between cortisol and RSA. In response to social evaluation, however, the ASD group did not show correlating responses between physiological systems, which was likely due to a blunted stress response to the social evaluative stressor. The ability to recognize neutral faces mediated the relationship between diagnostic group and physiological response to social evaluation, indicating that perception of threat is essential to triggering a stress response. The current study emphasizes the need to consider the important role of social context, social perception, and perceived anxiety when examining social interaction and stress.
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13. Cubicciotti JE, Vladescu JC, Reeve KF, Carroll RA, Schnell LK. {{Effects of stimulus presentation order during auditory-visual conditional discrimination training for children with autism spectrum disorder}}. {J Appl Behav Anal};2018 (Dec 14)
Children with autism spectrum disorder are typically taught conditional discriminations using a match-to-sample arrangement. Consideration should be given to the temporal order in which antecedent stimuli (the sample and comparison stimuli) are presented during match-to-sample trials, as various arrangements have been used in the extant literature. The purpose of the current study was to compare the effects of four stimulus presentation orders on the acquisition of auditory-visual conditional discriminations. The study included participants from a clinically relevant population (three children with autism spectrum disorder), employed clinically relevant teaching procedures, and included two presentation formats not included in previous comparison evaluations (simultaneous and sample-first with re-presentation conditions). Results were found to be learner-specific; that is, a different stimulus presentation format was most efficient for each participant. We provide suggestions to evaluate stimulus control topographies and enhance experimental control in match-to-sample arrangements.
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14. de Marchena A, Kim ES, Bagdasarov A, Parish-Morris J, Maddox BB, Brodkin ES, Schultz RT. {{Atypicalities of Gesture Form and Function in Autistic Adults}}. {J Autism Dev Disord};2018 (Dec 6)
While well-represented on clinical measures, co-speech gesture production has never been formally studied in autistic adults. Twenty-one verbally fluent autistic adults and 21 typically developing controls engaged in a controlled conversational task. Group differences were observed in both semantic/pragmatic and motoric features of spontaneously produced co-speech gestures. Autistic adults prioritized different functions of co-speech gesture. Specifically, they used gesture more than controls to facilitate conversational turn-taking, demonstrating a novel nonverbal strategy for regulating conversational dynamics. Autistic adults were more likely to gesture unilaterally than bilaterally, a motoric feature of gesture that was individually associated with autism symptoms. Co-speech gestures may provide a link between nonverbal communication symptoms and known differences in motor performance in autism.
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15. Fink DA, Nelson LM, Pyeritz R, Johnson J, Sherman SL, Cohen Y, Elizur SE. {{Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review}}. {Front Genet};2018;9:529.
Abnormalities in the X-linked FMR1 gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages. The rare and pleiotropic nature of the associated disorders, both common and not, place great burdens on (1) the affected families, (2) their care providers and clinicians, and (3) investigators striving to conduct research on the conditions. Fragile X syndrome, occurring more severely in males, is the leading genetic cause of intellectual disability. Fragile X associated tremor and ataxia syndrome (FXTAS) is a neurodegenerative disorder seen more often in older men. Fragile X associated primary ovarian insufficiency (FXPOI) is a chronic disorder characterized by oligo/amenorrhea and hypergonadotropic hypogonadism before age 40 years. There may be significant morbidity due to: (1) depression and anxiety related to the loss of reproductive hormones and infertility; (2) reduced bone mineral density; and (3) increased risk of cardiovascular disease related to estrogen deficiency. Here we report the case of a young woman who never established regular menses and yet experienced a 5-year diagnostic odyssey before establishing a diagnosis of FXPOI despite a known family history of fragile X syndrome and early menopause. Also, despite having clearly documented FXPOI the woman conceived spontaneously and delivered two healthy children. We review the pathophysiology and management of FXPOI. As a rare disease, the diagnosis of FXPOI presents special challenges. Connecting patients and community health providers with investigators who have the requisite knowledge and expertise about the FMR1 gene and FXPOI would facilitate both patient care and research. There is a need for an international natural history study on FXPOI. The effort should be coordinated by a global virtual center, which takes full advantage of mobile device communication systems.
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16. Fisher MH, Epstein RA, Urbano RC, Vehorn A, Cull MJ, Warren Z. {{A population-based examination of maltreatment referrals and substantiation for children with autism spectrum disorder}}. {Autism};2018 (Dec 7):1362361318813998.
Children with disabilities experience elevated rates of maltreatment, but little is known about the interaction of children with autism spectrum disorder with child protection systems. A population-based dataset of 24,306 children born in 2008 in Tennessee, which included 387 children with autism spectrum disorder identified through the Autism and Developmental Disabilities Monitoring network, was linked with state child protection records. Rates of maltreatment referrals, screening for further action, and substantiated maltreatment were examined for children with versus without autism spectrum disorder. Significantly more children with autism spectrum disorder (17.3%) than without (7.4%) were referred to the Child Abuse Hotline. Children with autism spectrum disorder were less likely than children without autism spectrum disorder to have referrals screened in for further action (62% vs 91.6%, respectively), but substantiated maltreatment rates were similar across groups (3.9% vs 3.4%, respectively). Girls versus boys with autism spectrum disorder were more likely to have substantiated maltreatment (13.6% vs 1.9%, respectively). The high percentage of children with autism spectrum disorder referred for allegations of maltreatment, the differential pattern of screening referrals in for further action, and the high levels of substantiated maltreatment of girls with autism spectrum disorder highlights the need for enhanced training and knowledge of the complex issues faced by children with autism spectrum disorder, their families, and state welfare agencies.
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17. Gandal MJ, Zhang P, Hadjimichael E, Walker RL, Chen C, Liu S, Won H, van Bakel H, Varghese M, Wang Y, Shieh AW, Haney J, Parhami S, Belmont J, Kim M, Moran Losada P, Khan Z, Mleczko J, Xia Y, Dai R, Wang D, Yang YT, Xu M, Fish K, Hof PR, Warrell J, Fitzgerald D, White K, Jaffe AE, Peters MA, Gerstein M, Liu C, Iakoucheva LM, Pinto D, Geschwind DH. {{Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder}}. {Science};2018 (Dec 14);362(6420)
Most genetic risk for psychiatric disease lies in regulatory regions, implicating pathogenic dysregulation of gene expression and splicing. However, comprehensive assessments of transcriptomic organization in diseased brains are limited. In this work, we integrated genotypes and RNA sequencing in brain samples from 1695 individuals with autism spectrum disorder (ASD), schizophrenia, and bipolar disorder, as well as controls. More than 25% of the transcriptome exhibits differential splicing or expression, with isoform-level changes capturing the largest disease effects and genetic enrichments. Coexpression networks isolate disease-specific neuronal alterations, as well as microglial, astrocyte, and interferon-response modules defining previously unidentified neural-immune mechanisms. We integrated genetic and genomic data to perform a transcriptome-wide association study, prioritizing disease loci likely mediated by cis effects on brain expression. This transcriptome-wide characterization of the molecular pathology across three major psychiatric disorders provides a comprehensive resource for mechanistic insight and therapeutic development.
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18. Hall TA, Mastel S, Nickel R, Wainer A. {{Parents training parents: Lessons learned from a study of reciprocal imitation training in young children with autism spectrum disorder}}. {Autism};2018 (Dec 7):1362361318815643.
Parent-mediated interventions are cost-effective ways to increase access to appropriate treatment services to children with autism spectrum disorder. We aimed to engage parents working as partners within rural autism identification teams to facilitate prompt initiation of autism-specific treatment services and expand the amount of treatment available to young children with autism spectrum disorder. To do this, we sought to employ a two-phase training approach: (Phase 1) train parents to fidelity in an evidence-based parent-mediated intervention (reciprocal imitation training), and (Phase 2) evaluate the extent to which parents could effectively coach other parents of newly diagnosed children to implement reciprocal imitation training with their child. We experienced several unexpected barriers to completing all aspects of the Phase 1 training workflow. This led us to pivot toward a process evaluation. We used qualitative interviewing with our partner parents to systematically identify barriers and enhance the likelihood for successful future efforts at such an approach. The lessons we learned and recommendations for others attempting this type of research are presented.
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19. Hand BN, Boan AD, Bradley CC, Charles JM, Carpenter LA. {{Ambulatory Care Sensitive Admissions in Individuals With Autism Spectrum Disorder, Intellectual Disability, and Population Controls}}. {Autism Res};2018 (Dec 14)
Ambulatory care sensitive (ACS) admissions are those for which effective primary care can prevent the need for emergency department (ED) visits and inpatient hospitalizations, and are an indicator of primary care access. Individuals with autism spectrum disorder (ASD) and/or intellectual disability (ID) may be at higher risk for ACS admissions than individuals in the general population due to difficulty accessing primary care. The objective of this study was to compare the incidence of ACS admissions among four cohorts of individuals aged 2-24 years: ASD without co-occurring ID (ASD-only), ASD with co-occurring ID (ASD + ID), ID without ASD (ID-only), and population controls (PC). Data from ED visits and inpatient hospitalizations occurring between January 1, 2000 and December 31, 2015 were examined to identify ACS admissions. Generalized linear models were used to examine differences between cohorts on the number of ACS ED visits and inpatient hospitalizations. Results revealed the ASD + ID and ID-only cohorts had significantly higher rates of ACS inpatient hospitalizations than the PC cohort. Additionally, the ID-only cohort had higher rates of ACS ED visits than the PC cohort. The ASD-only and PC cohorts did not differ on incidence of ACS admissions. These findings suggest that presence of an ID with or without co-occurring ASD increased the risk for ACS inpatient hospitalizations, and presence of ID-only increased the risk for ACS ED visits. Future work should examine trajectories of ACS admissions over time and consider inclusion of additional characteristics that may elucidate reasons for differences in ACS admissions among these groups. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Preventable hospitalizations are a common indicator of problems with access to quality primary healthcare. Findings of this study suggest that individuals with intellectual disability, with or without autism spectrum disorder, have higher rates of preventable hospitalizations than the general population. Further research is needed to understand how to improve access to primary care and reduce preventable hospitalizations for this vulnerable population.
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20. Hong JK, Oh M, Bong G, Kim JH, Bahn G, Cho IH, Yoo HJ. {{Age as a Moderator of Social Skills Intervention Response Among Korean Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2018 (Dec 13)
Few studies have investigated the effect of age on treatment effectiveness of evidence-based social skills training in autism spectrum disorder (ASD) adolescents. This study evaluated the effectiveness of Program for the Education and Enrichment of Relational Skills (PEERS((R))) in different ages of ASD adolescents. A total of 110 ASD adolescents aged 11-19 years were divided into early, middle, and late adolescence groups, and the changes in outcome measures following intervention were compared among the three groups. We found that the improvements in social competence after PEERS((R)) were significant, but the treatment effects were not significantly different among the three age groups. The findings suggest that PEERS((R)) is beneficial for ASD adolescents regardless of patient age and adolescence stage.
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21. Infante M, Sears B, Rizzo AM, Mariani Cerati D, Caprio M, Ricordi C, Fabbri A. {{Omega-3 PUFAs and vitamin D co-supplementation as a safe-effective therapeutic approach for core symptoms of autism spectrum disorder: case report and literature review}}. {Nutr Neurosci};2018 (Dec 13):1-12.
INTRODUCTION: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by abnormal development of cognitive, social, and communicative skills. Although ASD aetiology and pathophysiology are still unclear, various nutritional factors have been investigated as potential risk factors for ASD development, including omega-3 polyunsaturated fatty acids (PUFAs) and vitamin D deficiency. In fact, both omega-3 PUFAs and vitamin D are important for brain development and function. CASE REPORT: Herein, we report the case of a 23-year-old young adult male with autism who was referred to our Unit due to a 12-month history of cyclic episodes of restlessness, agitation, irritability, oppositional and self-injurious behaviours. Laboratory tests documented a markedly altered omega-6/omega-3 balance, along with a vitamin D deficiency, as assessed by serum levels of 25-hydroxyvitamin D. Omega-3 and vitamin D co-supplementation was therefore started, with remarkable improvements in ASD symptoms throughout a 24-month follow-up period. A brief review of the literature for interventional studies evaluating the efficacy of omega-3 or vitamin D supplementation for the treatment of ASD-related symptoms is also provided. CONCLUSION: To our knowledge, this is the first case reporting remarkable beneficial effects on ASD symptoms deriving from omega-3 and vitamin D combination therapy. This case report suggests omega-3 and vitamin D co-supplementation as a potential safe-effective therapeutic strategy to treat core symptoms of ASD. However, larger studies are needed to evaluate the real efficacy of such therapeutic approach in a broader sample of ASD patients.
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22. Jeste SS, Nelson CA, 3rd. {{Inaugural annual special section of the intellectual and developmental disabilities research centers: developmental cognitive neuroscience and neurodevelopmental disorders}}. {J Neurodev Disord};2018 (Dec 13);10(1):36.
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23. Karpur A, Lello A, Frazier T, Dixon PJ, Shih AJ. {{Health Disparities among Children with Autism Spectrum Disorders: Analysis of the National Survey of Children’s Health 2016}}. {J Autism Dev Disord};2018 (Dec 14)
Utilizing the 2016 National Survey of Children’s Health, this study illustrates that children with ASD have nearly 4 times higher odds of unmet health care needs compared to children without disabilities, whereas children with other disabilities had nearly 2 times higher odds of unmet health care needs compared to children without disabilities. Applying Andersen’s Behavioral Model of health care utilization, this study estimates that enabling factors (e.g., access to health insurance, quality of health insurance, access to family-centered care, family-level stress, exposure to adverse childhood experiences, and parental employment) improved prediction of regression model for unmet health care needs by 150%. Policy and program implications are discussed and a new framework for responding to observed disparities is discussed.
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24. Kuo HY, Liu FC. {{Molecular Pathology and Pharmacological Treatment of Autism Spectrum Disorder-Like Phenotypes Using Rodent Models}}. {Front Cell Neurosci};2018;12:422.
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with a high prevalence rate. The core symptoms of ASD patients are impaired social communication and repetitive behavior. Genetic and environmental factors contribute to pathophysiology of ASD. Regarding environmental risk factors, it is known that valproic acid (VPA) exposure during pregnancy increases the chance of ASD among offspring. Over a decade of animal model studies have shown that maternal treatment with VPA in rodents recapitulates ASD-like pathophysiology at a molecular, cellular and behavioral level. Here, we review the prevailing theories of ASD pathogenesis, including excitatory/inhibitory imbalance, neurotransmitter dysfunction, dysfunction of mTOR and endocannabinoid signaling pathways, neuroinflammation and epigenetic alterations that have been associated with ASD. We also describe the evidence linking neuropathological changes to ASD-like behavioral abnormalities in maternal VPA-treated rodents. In addition to obtaining an understanding of the neuropathological mechanisms, the VPA-induced ASD-like animal models also serve as a good platform for testing pharmacological reagents that might be use treating ASD. We therefore have summarized the various pharmacological studies that have targeted the classical neurotransmitter systems, the endocannabinoids, the Wnt signal pathway and neuroinflammation. These approaches have been shown to often be able to ameliorate the ASD-like phenotypes induced by maternal VPA treatments.
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25. LeBarton ES, Landa RJ. {{Infant motor skill predicts later expressive language and autism spectrum disorder diagnosis}}. {Infant Behav Dev};2018 (Dec 14);54:37-47.
Motor difficulties may be an early Autism Spectrum Disorder (ASD) risk indicator and may predict subsequent expressive language skills. Further understanding of motor functioning in the first year of life in children with ASD is needed. We examined motor skills in 6-month-olds (n = 140) at high and low familial risk for ASD using the Peabody Developmental Motor Scales (Grasping, Visual-Motor Integration, and Stationary subscales). In Study 1, motor skill at 6 months predicted ASD status at 24-36 months; ASD was associated with poorer infant motor skills. In Study 2, motor skill at 6 months predicted expressive language at 30 and 36 months. Findings provide evidence that vulnerability in motor function early in development is present in ASD. Findings highlight the importance of developmental monitoring in high-risk infants and possible cascading effects of early disruption in motor development.
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26. Lee J, Spratling R. {{Recruiting Mothers of Children With Developmental Disabilities: Adaptations of the Snowball Sampling Technique Using Social Media}}. {J Pediatr Health Care};2019 (Jan);33(1):107-110.
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27. Lefer G, Bourdon P, Mercier C, Lopez-Cazaux S. {{[Teaching tooth brushing to children with autistic spectrum disorder : A tablet-based training programme.]}}. {Sante Publique};2018 (May June);30(3):297-306.
OBJECTIVE: The primary objective of this exploratory study was to evaluate the short-term (four months) impact of a tooth brushing learning programme based on pictograms generated by the cATED app for iPad designed for patients with autistic spectrum disorder (ASD). METHODS: Fifty-two ASD patients, between the ages of 3 and 19 years, from seven educational centres, were included. A tooth brushing training programme was proposed in collaboration with the educational teams. Observation grids were used to evaluate autonomy during tooth brushing and interaction with the iPad. RESULTS: The results showed improvement of tooth brushing. The children progressively acquired the various brushing skills, although some steps remained difficult to perform. Interactions with the iPad also improved during the programme, encouraging the use of this tool in learning of tooth brushing. CONCLUSIONS: Daily assistance of the children improved the efficacy of tooth brushing, contributing to the preventive care of these patients. The use of an iPad in oral hygiene, especially for learning of tooth brushing, is simple and effective.
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28. Lefer G, Rouches A, Bourdon P, Lopez Cazaux S. {{Training children with autism spectrum disorder to undergo oral assessment using a digital iPad((R)) application}}. {Eur Arch Paediatr Dent};2018 (Dec 12)
AIM: To present a training programme for teaching children and adolescents with autism spectrum disorder (ASD), to be compliant with a dental examination. METHODS: Fifty-two children and adolescents with ASD (age range 3-19 years) with a parent-signed consent form were enrolled. Dental examinations were performed once a month in education centres by a paediatric dentist using a visual activity schedule on an iPad((R)) that was created with a digital application, cATED. Achievement and anxiety were evaluated using scales and grids every 2 months for 8 months. RESULTS: Showed an improvement in oral assessment; the children became compliant and less anxious. The percentage of individuals who underwent the entire dental exam process increased over time; it was 25% at the beginning of the study and 65.4% after 8 months. Only 7.7% of the sample was not anxious at the beginning, while 59.6% of the sample was not anxious after 8 months. Wilcoxon analysis also showed significant improvement in the studied variables. CONCLUSIONS: Training children and adolescents with ASD to undergo dental examination was efficient. The use of the iPad((R)) is attractive and easy for practitioners and people with ASD.
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29. Lisy J, Efremova A, Hrdlicka M. {{The yield of structural magnetic resonance imaging in autism spectrum disorders}}. {Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub};2018 (Dec 11)
AIMS: The aim of our study was to assess the yield of routine brain magnetic resonance imaging (MRI) performed at our hospital as part of the diagnostic procedures focused on autism. METHODS: Our retrospective study involved children who had attended a diagnostic examination focused on autism and underwent brain MRIs between 1998-2015. The International Classification of Diseases, 10(th) edition was used to make clinical diagnoses. In 489 children (404 boys, 85 girls; mean age 8.0+/-4.2 years), a diagnosis of a pervasive developmental disorder was confirmed. Forty-five children, where the autism diagnosis was ruled out (but other psychiatric diagnoses found), served as a control group (36 boys, 9 girls; mean age 7.0+/-2.4 years). We can assume that in such a control group, brain abnormalities might occur at a higher frequency than in truly healthy children which would have the effect of reducing the difference between the groups. RESULTS: MRI pathologies were more common in the autistic (45.4 %) compared to the control group (31.8%) but the difference was significant only at the trend level (P=0.085). Hypoplasia of the corpus callosum (CC) was significantly more common in the autistic vs. the control group (13.7 vs. 0%; P=0.009). In contrast, nonmyelinated areas of white matter were significantly more common in controls (31.8 vs.17.3%; P=0.018). Differences in other parameters were not significant. CONCLUSION: The occurrence of CC hypoplasia on routine MRI scans could represent a « red flag » for suspicion of autism.
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30. Luisier AC, Petitpierre G, Clerc Berod A, Garcia-Burgos D, Bensafi M. {{Effects of familiarization on odor hedonic responses and food choices in children with autism spectrum disorders}}. {Autism};2018 (Dec 7):1362361318815252.
This study assessed whether olfactory familiarization can render food odors more pleasant, and consequently food more attractive, to children with autism spectrum disorder. Participants were first presented with a series of food odors (session 1). Then, they were familiarized on four occasions (time window: 5 weeks) with one of the two most neutral odors (the other neutral odor was used as control) (session 2). In session 3, participants smelled the entire series of odors again. Both verbal and facial responses were compared from session 1 to session 3. After session 3, the children were presented with two identical foods (one containing the familiarized odor and one the control odor) and were asked to choose between these foods. Results revealed (1) a specific increase in positive emotions for the familiarized odor and (2) that 68% of the children chose the food associated with the « familiarized odor » (children who chose the « familiarized odor » food exhibited significantly more sensory particularities). These findings suggest that it is possible to modulate olfactory emotions and expand the dietary repertoire of children with autism spectrum disorder. Application of this paradigm may enable innovative prospects for food education in autism.
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31. Marggraff A, Constantino JN. {{Physical and Psychosocial Impact of a University-Based, Volunteer Student-Led Running Program for Children With Autism Spectrum Disorder}}. {J Am Acad Child Adolesc Psychiatry};2018 (Dec);57(12):974-977.
Children with autism spectrum disorder (ASD) are frequently excluded from group sports.(1) This accentuates the social isolation inherent in their condition, perpetuates cycles of perceived incompetence in physical activity, and increases susceptibility to weight gain influenced by psychotropic medications.(2) In a 2015 study of 376 children with ASD, 18.1% of children were overweight and 17% were obese.(3) Scarcity of opportunity to participate on athletic teams can contribute to this liability and compound the social isolation inherent in the condition.(4-6) Thus, programs that combine relationship building with physical conditioning present a double opportunity to offset significant hurdles for children with ASD. To address these needs locally, a group of volunteer college student-athletes (led by co-author Annie Marggraff) established a weekly Sunday afternoon program for athletic opportunity for children with ASD in the community. The program, Bear Cubs Running Team, was piloted over 5 successive semesters at Washington University in St. Louis, Missouri to empower children with ASD to set achievable physical conditioning goals, provide a forum to support their families, and increase college students’ awareness of barriers against and opportunities to meaningful improvements in health and quality of life.
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32. McIntyre LL, Brown M. {{Examining the utilisation and usefulness of social support for mothers with young children with autism spectrum disorder}}. {J Intellect Dev Disabil};2018;43(1):93-101.
Background: Social support has been described as a vital resource for families with children with disability. Although the benefits of social support have been described, little is known about the utilisation patterns in families of young children with autism spectrum disorder (ASD). Method: In a community sample of 78 American families with children (2-6 years) with ASD, this study examined the utilisation and usefulness of social support. Child, family, and service variables related to social support were explored. Results: Mothers of children with ASD reported using a combination of formal and informal supports, and these were perceived to be helpful. Sociodemographic variables, child behaviour problems, satisfaction with the autism diagnostic process, and access to information about ASD predicted social support utilisation. Conclusion: Social support utilisation varies as a function of different child, family, and service variables. Understanding these variables may help professionals guide families in access to and use of social support.
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33. Nabbijohn AN, van der Miesen AIR, Santarossa A, Peragine D, de Vries ALC, Popma A, Lai MC, VanderLaan DP. {{Gender Variance and the Autism Spectrum: An Examination of Children Ages 6-12 Years}}. {J Autism Dev Disord};2018 (Dec 13)
Gender variance (GV) and autism spectrum disorder (ASD) frequently co-occur in clinical populations. We investigated GV in association with ASD characteristics in nonclinical children and in children with developmental/mental health diagnoses. In 6-12-year-olds (N = 2445; 51% birth-assigned boys), the Gender Identity Questionnaire for Children measured GV and the Children’s Social Behavior Questionnaire measured six subdomains of ASD characteristics. Among nonclinical children, GV was associated with parent-reported difficulties orienting socially and stereotyped behaviors. GV was also associated with parent-reported clinical diagnoses of ASD, sensory processing disorder, and oppositional defiant disorder. These findings suggest associations between specific ASD characteristics and GV in nonclinical children. Also, childhood GV should be further examined in a range of clinical populations, including ASD individuals.
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34. Nordahl-Hansen A, Cicchetti DV, Oien RA. {{A Review Update on Gender Dysphoria and ASD and Response to Corrections}}. {J Autism Dev Disord};2018 (Dec 14)
Here we address the earlier published review by Oien et al. (J Autism Dev Disord, https://doi.org/10.1007/s10803-018-3686-7 , 2018) and the subsequent comments by Zucker and VanderLaan (J Autism Dev Disord, https://doi.org/10.1007/s10803-018-3748-x , 2018). The current commentary is a response to the corrections put forth by the latter authors where aspects related to diagnostic criteria of Gender Dysphoria and corrections to the existence of a control group were noted. Additionally, to highlight that research on Gender Dysphoria and ASD is becoming a very fast and growing field we also present an update of the original review which show a 13% increase of empirical studies published only in the past few months.
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35. Palande SP, Jose V, Zielinski BA, Anderson JS, Fletcher PT, Wang B. {{Revisiting Abnormalities in Brain Network Architecture Underlying Autism Using Topology-Inspired Statistical Inference}}. {Brain Connect};2018 (Dec 13)
A large body of evidence relates autism with abnormal structural and functional brain connectivity. Structural covariance MRI (scMRI) is a technique that maps brain regions with covarying gray matter density across subjects. It provides a way to probe the anatomical structure underlying intrinsic connectivity networks (ICNs) through the analysis of gray matter signal covariance. In this paper, we apply topological data analysis in conjunction with scMRI to explore network-specific differences in the gray matter structure in subjects with autism versus age-, gender- and IQ-matched controls. Specifically, we investigate topological differences in gray matter structure captured by structural correlation graphs (SCGs) derived from three ICNs strongly implicated in autism, namely, the salience network (SN), the default mode network (DMN) and the executive control network (ECN). By combining topological data analysis with statistical inference, our results provide evidence of statistically significant network-specific structural abnormalities in autism.
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36. Paul A, Gallot C, Lelouche C, Bouvard MP, Amestoy A. {{Victimisation in a French population of children and youths with autism spectrum disorder: a case control study}}. {Child Adolesc Psychiatry Ment Health};2018;12:48.
Background: Children and youths with autism spectrum disorder (ASD) have behavioural characteristics and severe social disabilities that make them vulnerable to victimisation. The current study explores the prevalence of peer victimisation in this population in France. Methods: We used the Juvenile Victimization Questionnaire-Screener Sum Version in a French sample of 39 children and youths with ASD and 53 typically developing (TD) children and youths and tested the association of the victimisation with socio-demographic factors and clinical factors of anxiety and post-traumatic stress. Results: The results indicate that 72% of the subjects with ASD had been victimised during the previous year and 94.9% during their entire lifetime. Of all students victimised at least once over the course of their lives, 75% had been victimised at school. Their peer victimisation score was significantly higher than in the TD group and was correlated to clinical factors such as a deficit in social skills and the severity of post-traumatic symptoms. Symptoms of anxiety were reported by parents of children and youths with ASD in 80% of cases. Conclusions: Children and youths with ASD are particularly vulnerable to victimisation at school. Discussion focuses on the importance of considering the impacts and needs of school integration of this population in France in order to prevent these phenomena and their consequences.
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37. Petralia MC, Sagone E, Coco M, Gueli R, Di Gregorio G, Coco LSG, Buscemi A, Perciavalle V. {{The 2D:4D ratio is associated with performance in the ‘TEACCH program’ of subjects with autism spectrum disorder}}. {Exp Ther Med};2018 (Dec);16(6):5373-5375.
Problems arising on the autistic spectrum are more common in male individuals, leading scholars to attempt to determine whether there is a correlation with testosterone levels to which fetuses were exposed during intrauterine life. The aim of the present study was to investigate, through the digit ratio technique, the possible correlation between testosterone exposure during intrauterine life and the achievement of predetermined objectives during the educational program Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH) in a group of subjects with different forms of autism. The results showed a positive correlation of the TEACCH program and 2D:4D ratio. Therefore, we hypothesize that a base screening may be useful to pinpoint the optimal teaching strategies to obtain the best possible performance from each subject.
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38. Ponde MP, Bassi Arcand FMN, Cunha LA, Rousseau C. {{Enacting autism: Immigrant family negotiations with nosology in practice}}. {Transcult Psychiatry};2018 (Dec 13):1363461518818282.
This article describes how autism spectrum disorder is experienced in the context of immigrant families and how the meaning of this condition, proposed by professionals in the host country, is negotiated between families and healthcare providers. The study sample consists of 44 parents of different nationalities and their 35 children with autism spectrum disorder (ASD) living in a socioeconomically deprived neighborhood of Montreal, Canada. Individual parent interviews were audiotaped and transcribed for subsequent analysis. Results suggest that – although they may sometimes be a source of anxiety – the uncertainties regarding the etiology of ASD, as well as the gap between the explanatory models (EMs) proposed by host country professionals and the impressions of parents, seem to increase the capacity of families to resist the imposition of what they perceive as external categories. Parents perceived the day-to-day difficulties associated with their child’s condition as a form of social exclusion that compromised their child’s future and independence. These day-to-day difficulties were also described as directly affecting the parents’ social life, constituting an important emotional and physical burden. When talking about their children, parents described the painfulness of their experiences, but also discussed how their autistic child had transformed and shaped their lives. Overall, these results show how the disease is « enacted » in the day-to-day life of parents; and suggest that such an embodied understanding of ASD may sometimes represent a form of re-appropriation of power by families faced with adversity.
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39. Quelhas D, Kompala C, Wittenbrink B, Han Z, Parker M, Shapiro M, Downs S, Kraemer K, Fanzo J, Morris S, Kreis K. {{The association between active tobacco use during pregnancy and growth outcomes of children under five years of age: a systematic review and meta-analysis}}. {BMC Public Health};2018 (Dec 13);18(1):1372.
BACKGROUND: Despite considerable global efforts to reduce growth faltering in early childhood, rates of stunting remain high in many regions of the world. Current interventions primarily target nutrition-specific risk factors, but these have proven insufficient. The objective of this study was to synthesize the evidence on the relationship between active tobacco use during pregnancy and growth outcomes in children under five years of age. METHODS: In this systematic review and meta-analysis, six online databases were searched to identify studies published from January 1, 1980, through October 31, 2016, examining the association between active tobacco use during pregnancy and small-for-gestational age (SGA), length/height, and/or head circumference. Ecological studies were not included. A meta-analysis was conducted, and subgroup analyses were carried out to explore the effect of tobacco dosage. RESULTS: Among 13,189 studies identified, 210 were eligible for inclusion in the systematic review, and 124 in the meta-analysis. Active tobacco use during pregnancy was associated with significantly higher rates of SGA (pooled adjusted odds ratio [AORs] = 1.95; 95% confidence interval [CI]: 1.76, 2.16), shorter length (pooled weighted mean difference [WMD] = 0.43; 95% CI: 0.41, 0.44), and smaller head circumference (pooled WMD = 0.27; 95% CI: 0.25, 0.29) at birth. In addition, a dose-response effect was evident for all growth outcomes. CONCLUSION: Tobacco use during pregnancy may represent a major preventable cause of impaired child growth and development.
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40. Saffran JR. {{Statistical learning as a window into developmental disabilities}}. {J Neurodev Disord};2018 (Dec 13);10(1):35.
Until recently, most behavioral studies of children with intellectual and developmental disabilities (IDD) have used standardized assessments as a means to probe etiology and to characterize phenotypes. Over the past decade, however, tasks originally developed to investigate learning processes in typical development have been brought to bear on developmental processes in children with IDD.This brief review will focus on one learning process in particular-statistical learning-and will provide an overview of what has been learned thus far from studies using statistical learning tasks with different groups of children with IDD conditions. While a full picture is not yet available, results to date suggest that studies of learning are both feasible and informative about learning processes that may differ across diagnostic groups, particularly as they relate to language acquisition.More generally, studies focused on learning processes may be highly informative about different developmental trajectories both across groups and within groups of children.
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41. Salgado CA, Castellanos D. {{Autism Spectrum Disorder and Cannabidiol: Have We Seen This Movie Before?}}. {Glob Pediatr Health};2018;5:2333794×18815412.
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42. Samadi SA, Abdollahi-Boghrabadi G, McConkey R. {{Parental Satisfaction with Caregiving for Children with Developmental Disabilities: Development of a New Assessment Tool}}. {Children (Basel)};2018 (Dec 11);5(12)
Parents of children with developmental disabilities face many challenges. Those who are less satisfied with the care-giving that their children receive may require extra support. This paper reports the development of a Parental Satisfaction with Caring for a child with Developmental Disability Index (PSCDDI), with items derived from literature reviews and pilot testing in Iran. The index was field tested with 256 parents caring for children with a diagnosis of intellectual disability, autism, or attention deficit hyperactivity disorder (ADHD), and who were attending centres in four locations across Iran. A factor analysis of responses to the self-completion questionnaire identified two main factors, i.e., personal satisfaction and satisfaction with the child, with six items for each factor. The two factors had good internal consistency and reasonable test-retest reliability. Binary logistic regressions identified significant predictors of personal satisfaction that supported the validity of the scale.: Clinicians and service providers could use this scale as part of their assessment strategy to identify parents who may require additional support, especially those with teenage female children, and those with a diagnosis of autism or behavior problems.
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43. Shen MD. {{Cerebrospinal fluid and the early brain development of autism}}. {J Neurodev Disord};2018 (Dec 13);10(1):39.
BACKGROUND: There is currently a renaissance of interest in the many functions of cerebrospinal fluid (CSF). Altered flow of CSF, for example, has been shown to impair the clearance of pathogenic inflammatory proteins involved in neurodegenerative diseases, such as amyloid-beta. In addition, the role of CSF in the newly discovered lymphatic system of the brain has become a prominently researched area in clinical neuroscience, as CSF serves as a conduit between the central nervous system and immune system. MAIN BODY: This article will review the importance of CSF in regulating normal brain development and function, from the prenatal period throughout the lifespan, and highlight recent research that CSF abnormalities in autism spectrum disorder (ASD) are present in infancy, are detectable by conventional structural MRI, and could serve as an early indicator of altered neurodevelopment. CONCLUSION: The identification of early CSF abnormalities in children with ASD, along with emerging knowledge of the underlying pathogenic mechanisms, has the potential to serve as early stratification biomarkers that separate children with ASD into biological subtypes that share a common pathophysiology. Such subtypes could help parse the phenotypic heterogeneity of ASD and map on to targeted, biologically based treatments.
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44. Smith RX, Jann K, Dapretto M, Wang DJJ. {{Imbalance of Functional Connectivity and Temporal Entropy in Resting-State Networks in Autism Spectrum Disorder: A Machine Learning Approach}}. {Front Neurosci};2018;12:869.
Background: Two approaches to understanding the etiology of neurodevelopmental disorders such as Autism Spectrum Disorder (ASD) involve network level functional connectivity (FC) and the dynamics of neuronal signaling. The former approach has revealed both increased and decreased FC in individuals with ASD. The latter approach has found high frequency EEG oscillations and higher levels of epilepsy in children with ASD. Together, these findings have led to the hypothesis that atypical excitatory-inhibitory neural signaling may lead to imbalanced association pathways. However, simultaneously reconciling local temporal dynamics with network scale spatial connectivity remains a difficult task and thus empirical support for this hypothesis is lacking. Methods: We seek to fill this gap by combining two powerful resting-state functional MRI (rs-fMRI) methods-functional connectivity (FC) and wavelet-based regularity analysis. Wavelet-based regularity analysis is an entropy measure of the local rs-fMRI time series signal. We examined the relationship between the RSN entropy and integrity in individuals with ASD and controls from the Autism Brain Imaging Data Exchange (ABIDE) cohort using a putative set of 264 functional brain regions-of-interest (ROI). Results: We observed that an imbalance in intra- and inter-network FC across 11 RSNs in ASD individuals (p = 0.002) corresponds to a weakened relationship with RSN temporal entropy (p = 0.02). Further, we observed that an estimated RSN entropy model significantly distinguished ASD from controls (p = 0.01) and was associated with level of ASD symptom severity (p = 0.003). Conclusions: Imbalanced brain connectivity and dynamics at the network level coincides with their decoupling in ASD. The association with ASD symptom severity presents entropy as a potential biomarker.
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45. Sojar SH, Goldner JSV, Krishnamoorthy K, Murphy SA, Masiakos PT, Klig JE. {{A 17-Year-Old Boy With High-Functioning Autism, Gastrointestinal Illness, and Seizures}}. {Pediatrics};2018 (Dec 13)
A healthy 17-year-old boy with a high-functioning pervasive developmental disorder presented to the emergency department after having a 4-minute episode of seizure-like activity in the setting of presumed viral gastroenteritis. Within an hour of emergency department arrival, he developed a forehead-sparing facial droop, right-sided ptosis, and expressive aphasia, prompting stroke team assessment and urgent neuroimaging. Laboratory results later revealed a serum sodium of 119 mmol/L. Neurologic deficits self-resolved, and a full physical examination revealed diffuse abdominal tenderness in the lower abdomen with rebound tenderness in the right-lower quadrant. The patient was admitted to the PICU for electrolyte management and monitoring. A computed tomography (CT) scan of the abdomen obtained the following morning revealed the patient’s final diagnosis.
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46. Steinemann A. {{Fragranced consumer products: effects on autistic adults in the United States, Australia, and United Kingdom}}. {Air Qual Atmos Health};2018;11(10):1137-1142.
Fragranced consumer products, such as cleaning supplies, air fresheners, and personal care products, can have adverse effects on both air quality and health. This study investigates the effects of fragranced products on autistic individuals ages 18-65 in the United States, Australia, and United Kingdom. Nationally representative population surveys (n = 1137; 1098; 1100) found that, across the three countries, 4.3% of adults (n = 142) report medically diagnosed autism (2.3%), an autism spectrum disorder (2.4%), or both. Of these autistic adults, 83.7% report adverse health effects from fragranced products, including migraine headaches (42.9%), neurological problems (34.3%), respiratory problems (44.7%), and asthma attacks (35.9%). In particular, 62.9% of autistic adults report health problems from air fresheners or deodorizers, 57.5% from the scent of laundry products coming from a dryer vent, 65.9% from being in a room cleaned with scented products, and 60.5% from being near someone wearing a fragranced product. Health problems can be severe, with 74.1% of these effects considered potentially disabling under legislation in each country. Further, 59.4% of autistic adults have lost workdays or lost a job, in the past year, due to fragranced product exposure in the workplace. More than twice as many autistic as well as non-autistic individuals would prefer that workplaces, health care facilities, and health care professionals were fragrance-free rather than fragranced. Results show that vulnerable individuals, such as those with autism or autism spectrum disorders, can be profoundly, adversely, and disproportionately affected by exposure to fragranced consumer products.
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47. Wilson RB, McCracken JT, Rinehart NJ, Jeste SS. {{What’s missing in autism spectrum disorder motor assessments?}}. {J Neurodev Disord};2018 (Dec 13);10(1):33.
BACKGROUND: Motor delays and impairments in autism spectrum disorders (ASD) are extremely common and often herald the emergence of pervasive atypical development. Clinical accounts of ASD and standardized measures of motor function have identified deficits in multiple motor domains. However, literature describing frequently used standardized motor assessments in children with ASD, their test properties, and their limitations are sparse. METHODS: We systematically reviewed the literature to identify the most frequently used standardized motor assessments used to evaluate children with ASD from infancy to early childhood. All assessments included were required to possess reference norms, evaluate more than one motor domain, and have undergone some degree of validation. RESULTS: We identified six frequently used standardized measures of motor function per our inclusion and exclusion criteria. We investigated and described in detail the psychometric properties of these assessments, their utility for use with children with ASD, and their individual and overall strengths and limitations. The global strengths of these assessments are the ability to identify early development delays and differences in fine and gross motor function in children with ASD. Global limitations of these studies are lack of validation in individuals with ASD and scoring systems that often miss specific and subtle abnormalities. CONCLUSIONS: Standardized assessments of motor function have provided valuable information on motor impairments in ASD. However, significant limitations remain in the use of these measures in children with ASD. Moving forward, it is imperative that standardized measures of motor function receive greater validation testing in children with ASD to assess their potential application given the clinical heterogeneity of this condition. In addition, utilizing quantitative measures of motor function should allow for evaluation and comparison of individuals with ASD across the lifespan with varying cognitive and behavioral abilities.
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48. Yerys BE, Herrington JD, Bartley GK, Liu HS, Detre JA, Schultz RT. {{Arterial spin labeling provides a reliable neurobiological marker of autism spectrum disorder}}. {J Neurodev Disord};2018 (Dec 13);10(1):32.
BACKGROUND: Research on neurobiological markers of autism spectrum disorder (ASD) has been elusive. However, radionuclide studies of cerebral blood flow (CBF) have shown decreased blood flow (hypoperfusion) in the temporal lobes of individuals with ASD across ages and intelligence. This observation fits with current neuroscientific models that implicate temporal regions in social perception and social cognition. Arterial spin labeled perfusion MRI allows noninvasive quantification of regional CBF as part of a multimodal MRI protocol. This method is almost entirely absent from ASD research to date. Our a priori hypothesis was that children with ASD would present with hypoperfusion in the temporal lobes-most notably the fusiform gyrus (given its prominent role in ASD social perception deficits). We also sought to examine the reproducibility of CBF measures, and their relationship to individual differences in facial recognition and ASD symptoms. METHODS: A total of 58 males (33 with ASD) between the ages of 12 and 17 years participated in the study. All children completed two arterial spin labeling and structural (T1) scans using a 3 T Siemens Verio scanner approximately 8 weeks apart, as well as behavioral testing at time 1 that included diagnostic measures and the Benton Facial Recognition Test. CBF was the key dependent variable, as was facial recognition performance, and ASD symptoms. The two scans were used for reliability analyses. RESULTS: The ASD group showed hypoperfusion in the bilateral fusiform gyrus and in right inferior temporal gyrus. Intra-class correlations showed moderate to good reliability across time within both groups, and no diagnostic group x time interactions. CBF in the left fusiform gyrus was significantly positively correlated with facial recognition. No significant correlations were observed with core ASD symptoms. CONCLUSIONS: Arterial spin labeling revealed hypoperfusion in children with ASD in regions critical to social perception and cognition. The left fusiform gyrus plays an important role in facial recognition, and greater CBF in this region was correlated with more normative facial recognition performance in children with ASD. This study takes an important first step in establishing CBF of the temporal lobes as a reliable marker of ASD.
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49. Ziermans T, de Bruijn Y, Dijkhuis R, Staal W, Swaab H. {{Impairments in cognitive empathy and alexithymia occur independently of executive functioning in college students with autism}}. {Autism};2018 (Dec 14):1362361318817716.
Reduced empathy and alexithymic traits are common across the autism spectrum, but it is unknown whether this is also true for intellectually advanced adults with autism spectrum disorder. The aim of this study was to examine whether college students with autism spectrum disorder experience difficulties with empathy and alexithymia, and whether this is associated with their cognitive levels of executive functioning. In total, 53 college students with autism spectrum disorder were compared to a gender-matched group of 29 neurotypical students on cognitive and affective dimensions of empathy and alexithymia. In addition, cognitive performance on executive functioning was measured with computerized and paper-and-pencil tasks. The autism spectrum disorder group scored significantly lower on cognitive empathy and higher on cognitive alexithymia (both d = 0.65). The difference on cognitive empathy also remained significant after controlling for levels of cognitive alexithymia. There were no group differences on affective empathy and alexithymia. No significant relations between executive functioning and cognitive alexithymia or cognitive empathy were detected. Together, these findings suggest that intellectually advanced individuals with autism spectrum disorder experience serious impairments in the cognitive processing of social-emotional information. However, these impairments cannot be attributed to individual levels of cognitive executive functioning.
