1. Bellando J, Fussell JJ, Lopez M. {{Autism Speaks Toolkits: Resources for Busy Physicians}}. {Clin Pediatr (Phila)};2015 (Jul 6)
Given the increased prevalence of autism spectrum disorders (ASD), it is likely that busy primary care providers (PCP) are providing care to individuals with ASD in their practice. Autism Speaks provides a wealth of educational, medical, and treatment/intervention information resources for PCPs and families, including at least 32 toolkits. This article serves to familiarize PCPs and families on the different toolkits that are available on the Autism Speaks website. This article is intended to increase physicians’ knowledge on the issues that families with children with ASD frequently encounter, to increase their ability to share evidence-based information to guide treatment and care for affected families in their practice.
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2. Chen H, Duan X, Liu F, Lu F, Ma X, Zhang Y, Uddin LQ. {{Multivariate classification of autism spectrum disorder using frequency-specific resting-state functional connectivity-A multi-center study}}. {Prog Neuropsychopharmacol Biol Psychiatry};2015 (Jul 3)
BACKGROUND: Resting-state functional magnetic resonance imaging studies examining low frequency fluctuations (0.01-0.08Hz) have revealed atypical whole brain functional connectivity patterns in adolescents with autism spectrum disorder (ASD), and these atypical patterns can be used to discriminate individuals with ASD from controls. However, at present it is unknown whether functional connectivity at specific frequency bands can be used to discriminate individuals with ASD from controls, and whether relationships with symptom severity are stronger in specific frequency bands. METHODS: We selected 240 adolescent subjects (12-18 years old, 112 with autism spectrum disorder (101/11, males/females) and 128 healthy controls (104/24, males/females)) from 6 separate international sites in the Autism Brain Imaging Data Exchange database. Whole brain functional connectivity networks were constructed in the Slow-5 (0.01-0.027Hz) and Slow-4 (0.027-0.073Hz) frequency bands, which were then used as classification features. RESULTS: An accuracy of 79.17% (p<0.001) was obtained using support vector machine. Most of the discriminative features were concentrated on the Slow-4 band. In the Slow-4 band, atypical connections between the default mode network, fronto-parietal network and cingulo-opercular network were detected. A significant correlation was found between social and communication deficits as measured by the ADOS in individuals with ASD and the classification scores based on connectivity between the default mode network and the cingulo-opercular network. Connections of the thalamus were of the highest classification weight in the Slow-4 band. CONCLUSIONS: Our findings provide preliminary evidence for frequency-specific whole brain functional connectivity indices that may eventually be used to aid detection of ASD.
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3. Esposito G, Valenzi S, Islam T, Bornstein MH. {{Three physiological responses in fathers and non-fathers’ to vocalizations of typically developing infants and infants with Autism Spectrum Disorder}}. {Res Dev Disabil};2015 (Jul 4);43-44:43-50.
Children with ASD, even before receiving a formal diagnosis, express atypical patterns of distress vocalizations (namely, episodes of crying). Their cries have higher fundamental frequencies, shorter inter-bout pauses, and fewer utterances. Cries of children with ASD are also perceived differently from other cries, and these perceptual differences may alter parent-infant interaction. This study assessed multiple physiological responses in fathers and non-fathers to atypical distress vocalizations (cries of children with ASD), acoustically matched typical distress vocalizations (cries of typically developing children), and positive vocalizations (laughter of typically developing children). The experimental procedures were designed to measure how components of the autonomic nervous system respond to typical and atypical infant vocalizations. Three convergent methodologies (Galvanic Skin Response-GSR; cardiac dynamics via Inter-Beat Interval-IBI; right hand temperature change-RHTC) were performed on two groups with contrasting caregiving experience: fathers of typically developing children (n=10) and non-fathers (n=10). Inferential statistical analysis compared the two groups (fathers, non-fathers) and three stimulus types (ASD cry, typical cry, laughter) for the three measures (GSR, IBI, RHTC). Both fathers and non-fathers showed greater negative responses (increased GSR) to ASD cries compared to typical cries and laughter. Fathers showed higher IBI and greater temperature increases (RHTC) than non-fathers while listening to typical and atypical cries. Fathers and non-fathers showed more emotional arousal mediated by sympathetic activation while listening to cries of children with ASD. Fathers were calmer and acted more promptly than non-fathers while listening to typical cries, perhaps because the fathers had more experience in caring for crying infants. These findings point to similarities and differences in fathers’ and non-fathers’ physiological responsiveness to cries of children with ASD and might guide specific intervention programs for parents of children at risk of ASD.
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4. Fadini CC, Lamonica DA, Fett-Conte AC, Osorio E, Zuculo GM, Giacheti CM, Pinato L. {{Influence of sleep disorders on the behavior of individuals with autism spectrum disorder}}. {Front Hum Neurosci};2015;9:347.
The aim of this study was to investigate the correlation between sleep disorders and the behavior of subjects with autism spectrum disorder (ASD) and control subjects using specific questionnaires. A small percentage (1.8%) of the control subjects had symptoms indicative of sleep-breathing disorders (SBD) and nocturnal sweating. Fifty-nine percent of the subjects with ASD had symptoms indicative of at least one sleep disorder, with SBD the most commonly reported (38%). In the control group, the symptoms of SBD were correlated with social, thought, attentional, aggression, externalizing and behavioral problems. In the ASD group, disorders of arousal (DA) were correlated with thinking problems, and disorders of excessive somnolence were correlated with thinking and behavioral problems. These results suggest that children and adolescents with ASD have a high frequency of sleep disorders, which in turn correlate with some of the behavioral traits that they already exhibit. Furthermore, sleep disturbances, when present in the typically developing children, also correlated with behavioral problems.
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5. Han Y, Xi QQ, Dai W, Yang SH, Gao L, Su YY, Zhang X. {{Abnormal transsulfuration metabolism and reduced antioxidant capacity in Chinese children with autism spectrum disorders}}. {Int J Dev Neurosci};2015 (Jul 3)
Autism spectrum disorder (ASD) is a neurological disorder that presents a spectrum of qualitative impairments in social interaction, communication, as well as restricted and stereotyped behavioral patterns, interests, and activities. Several studies have suggested that the etiology of ASD can be partly explained by oxidative stress. However, the implications of abnormal transsulfuration metabolism and oxidative stress, and their relation with ASD are still unclear. The purpose of this study was to evaluate several transsulfuration pathway metabolites in Chinese participants diagnosed with ASD, to better understand their role in the etiology of this disorder. Fifty children (39 male, 11 female) diagnosed with ASD and 50 age- and gender-matched non-ASD children (i.e., control group) were included in this study. This prospective blinded study was undertaken to assess transsulfuration and oxidative metabolites, including levels of homocysteine (Hcy), cysteine (Cys), total glutathione (tGSH), reduced glutathione (GSH), oxidized glutathione (GSSG), and glutathione ratio (GSH/GSSG). The clinical severity of ASD was evaluated with the Childhood Autism Rating Scale (CARS), and the autistic children’s present behavior was measured by the Autism Behavior Checklist (ABC). The results indicated that Hcy and GSSG levels were significantly higher in children diagnosed with ASD, Cys, tGSH and GSH levels as well as the GSH/GSSG ratio showed remarkably lower values in ASD children compared to control subjects. Hcy levels correlated significantly with increasing CARS scores and GSSG levels in children with ASD. Our results suggest that an abnormal transsulfuration metabolism and reduced antioxidant capacity (i.e., hyperhomocysteinemia and increased oxidative stress), and Hcy level appears to have a potentially negative impact on clinical severity of autistic disorder.
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6. Hinzen W, Rossello J, Mattos O, Schroeder K, Vila E. {{The image of mind in the language of children with autism}}. {Front Psychol};2015;6:841.
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7. Hranilovic D, Blazevic S, Stefulj J, Zill P. {{DNA Methylation Analysis of HTR2A Regulatory Region in Leukocytes of Autistic Subjects}}. {Autism Res};2015 (Jul 7)
Disturbed brain and peripheral serotonin homeostasis is often found in subjects with autism spectrum disorder (ASD). The role of the serotonin receptor 2A (HTR2A) in the regulation of central and peripheral serotonin homeostasis, as well as its altered expression in autistic subjects, have implicated the HTR2A gene as a major candidate for the serotonin disturbance seen in autism. Several studies, yielding so far inconclusive results, have attempted to associate autism with a functional SNP -1438 G/A (rs6311) in the HTR2A promoter region, while possible contribution of epigenetic mechanisms, such as DNA methylation, to HTR2A dysregulation in autism has not yet been investigated. In this study, we compared the mean DNA methylation within the regulatory region of the HTR2A gene between autistic and control subjects. DNA methylation was analysed in peripheral blood leukocytes using bisulfite conversion and sequencing of the HTR2A region containing rs6311 polymorphism. Autistic subjects of rs6311 AG genotype displayed higher mean methylation levels within the analysed region than the corresponding controls (P < 0.05), while there was no statistically significant difference for AA and GG carriers. Our study provides preliminary evidence for increased HTR2A promoter methylation in leukocytes of a portion of adult autistic subjects, indicating that epigenetic mechanisms might contribute to HTR2A dysregulation observed in individuals with ASD. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Hurwitz S, Watson LR. {{Joint attention revisited: Finding strengths among children with autism}}. {Autism};2015 (Jul 6)
Differences in joint attention are prominent for some children with autism and are often used as an indicator of the disorder. This study examined the joint attention competencies of young children with autism who demonstrated joint attention ability and compared them to children with developmental delays. A total of 40 children with autism and developmental delays were matched pairwise based on mental and chronological age. Videos of children engaging in play were coded for the frequency and forms (eye contact, gestures, affect, etc.) of joint attention. Additionally, concurrent language was compared among children with autism (N = 32) by their joint attention ability. Children with autism spectrum disorder entered into joint attention significantly less often than children with developmental delays, but once engaged used the forms of joint attention similarly. For the matched pairs, there were no differences in language, but the children with autism who used joint attention had significantly better language than children with autism who did not (even after controlling for mental age). There is a group of young children with autism who can use joint attention but do so at lower frequencies than children with developmental delays. Possible reasons include difficulty disengaging attention and limited intrinsic social motivation to share. Adult persistence is recommended to encourage joint attention.
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9. Khanna R, Jariwala K, West-Strum D. {{Validity and reliability of the Medical Outcomes Study Short-Form Health Survey version 2 (SF-12v2) among adults with autism}}. {Res Dev Disabil};2015 (Jul 4);43-44:51-60.
BACKGROUND: The purpose of the study was to assess the validity and reliability of the Medical Outcomes Study Short Form-12 version 2 (SF-12v2) instrument among adults with autism. METHODS: Study data was collected using a cross-sectional online survey of adults with autism enrolled with the Interactive Autism Network (N=291). Factorial validity was assessed using confirmatory factor analysis technique. Item-scale correlations were examined for convergent validity. Known-groups validity was assessed by examining the variation in Physical Component Summary (PCS) and Mental Component Summary (MCS) scores by autism severity. Cronbach’s alpha was determined for internal consistency reliability. Floor and ceiling effects were also assessed. RESULTS: A two-factor model with correlated error terms was found to have a good fit. The PCS scale strongly correlated with the underlying items representing the scale. The MCS scale had strong to moderate correlation with its underlying items. For known-groups validity, the MCS score varied as expected with lower score observed among adults with high severity as compared to low severity; however, PCS score varied inversely. Internal consistent reliability of the SF-12v2 was good, and there were no floor and ceiling effects. CONCLUSIONS: Except for known-groups validity, all other psychometric indicators performed well for the SF-12v2.
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10. Lalanne L, Weiner L, Trojak B, Berna F, Bertschy G. {{Substance-use disorder in high-functioning autism: clinical and neurocognitive insights from two case reports}}. {BMC Psychiatry};2015;15:149.
BACKGROUND: Low prevalence of substance-use disorder has been reported in adults with autism. However, on a superficial level, adults with high-functioning autism (HFA) display a ‘normal’ facade when they drink alcohol, which may explain why their alcohol dependency is not better diagnosed. CASE PRESENTATION: Here, we report two cases of HFA adults who use alcohol and psychostimulants to cope with their anxiety and improve their cognitive abilities and social skills. We analyze how neurocognitive traits associated with HFA may be potential triggers for substance-use disorder. CONCLUSION: Better identification of autism and its cognitive impairments, which may be vulnerability traits for developing substance-use disorders, could help improve the diagnosis and treatment of substance-use disorders among this population.
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11. Luckhardt C, Jarczok TA, Bender S. {{Erratum to: Elucidating the neurophysiological underpinnings of autism spectrum disorder: new developments}}. {J Neural Transm};2015 (Jul 7)
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12. Mugzach O, Peleg M, Bagley SC, Guter SJ, Cook EH, Altman RB. {{An ontology for Autism Spectrum Disorder (ASD) to infer ASD phenotypes from Autism Diagnostic Interview-Revised data}}. {J Biomed Inform};2015 (Jul 4)
OBJECTIVE: Our goal is to create an ontology that will allow data integration and reasoning with subject data to classify subjects, and based on this classification, to infer new knowledge on Autism Spectrum Disorder (ASD) and related neurodevelopmental disorders (NDD). We take a first step toward this goal by extending an existing autism ontology to allow automatic inference of ASD phenotypes and Diagnostic & Statistical Manual of Mental Disorders (DSM) criteria based on subjects’ Autism Diagnostic Interview-Revised (ADI-R) assessment data. MATERIALS AND METHODS: Knowledge regarding diagnostic instruments, ASD phenotypes and risk factors was added to augment an existing autism ontology via Ontology Web Language class definitions and semantic web rules. We developed a custom Protege plugin for enumerating combinatorial OWL axioms to support the many-to-many relations of ADI-R items to diagnostic categories in the DSM. We utilized a reasoner to infer whether 2642 subjects, whose data was obtained from the Simons Foundation Autism Research Initiative, meet DSM-IV-TR (DSM-IV) and DSM-5 diagnostic criteria based on their ADI-R data. RESULTS: We extended the ontology by adding 443 classes and 632 rules that represent phenotypes, along with their synonyms, environmental risk factors, and frequency of comorbidities. Applying the rules on the data set showed that the method produced accurate results: the true positive and true negative rates for inferring autistic disorder diagnosis according to DSM-IV criteria were 1 and 0.065, respectively; the true positive rate for inferring ASD based on DSM-5 criteria was 0.94. DISCUSSION: The ontology allows automatic inference of subjects’ disease phenotypes and diagnosis with high accuracy. CONCLUSION: The ontology may benefit future studies by serving as a knowledge base for ASD. In addition, by adding knowledge of related NDDs, commonalities and differences in manifestations and risk factors could be automatically inferred, contributing to the understanding of ASD pathophysiology.
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13. Rosenbloom R, Mason RA, Wills HP, Mason BA. {{Technology Delivered Self-Monitoring Application to Promote Successful Inclusion of an Elementary Student with Autism}}. {Assist Technol};2015 (Jul 7)
The ever-increasing prevalence of children diagnosed with autism spectrum disorder (ASD) is paralleled in public educational settings including general education classrooms. Challenges with social/behavioral functioning, including limited self-management and behavior inhibition, can lead to off-task and disruptive behaviors that interfere with acquisition of academic and social skills. Without effective and efficient interventions, opportunities to participate in inclusive settings will likely be reduced. Self-monitoring (SM) is an intervention with strong evidence for increasing prosocial behaviors and decreasing challenging behaviors for students with ASD in educational settings, although the cuing mechanisms (e.g. timers, stopwatch) and tracking materials (e.g. paper, pencil) can be cumbersome and obtrusive. I-Connect is an SM application that allows for customizable prompts, recording, and data monitoring. The purpose of this study was to evaluate, utilizing an ABAB design, the functional relationship between implementation of I-Connect SM intervention and increases in on-task behavior with concurrent decreases in disruptive behavior for an elementary student with ASD in a general education classroom. Results indicate an immediate increase in on-task behavior as well as a decrease in disruptive behaviors with each introduction of I-Connect. Implications for practice and future research are discussed.
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14. Unwin LM, Maybery MT, Murphy A, Lilje W, Bellesini M, Hunt AM, Granich J, Jacoby P, Dissanayake C, Pennell CE, Hickey M, Whitehouse AJ. {{A Prospective Ultrasound Study of Prenatal Growth in Infant Siblings of Children With Autism}}. {Autism Res};2015 (Jul 7)
Numerous studies have observed that a proportion of infants later diagnosed with autism spectrum disorder (ASD) experience accelerated head growth during the first years of life. An emerging methodology for examining the developmental trajectory prior to a diagnosis of ASD is to investigate siblings of affected individuals. The current study is the first prospective investigation of fetal growth in siblings of children with ASD. Two groups of pregnant women were recruited as part of the PRegnancy Investigation of Siblings and Mothers of children with autism cohort in Perth, Western Australia. The « high risk » group (n = 23) comprised pregnant women who have an existing child with a diagnosis of ASD and the « low risk » group (n = 36) comprised pregnant mothers who have an existing child who has developed typically. Prenatal ultrasounds were procured at multiple time-points throughout the second- and third-trimesters, enabling an examination of growth trajectories. Growth measurements were then compared for the high- and low-risk fetuses. Mixed linear regression models identified no significant differences between the high- and low-risk fetuses in the rate of prenatal head and body growth throughout the second- and third-trimester (all P-values >0.05). Similarly, there were no significant differences observed when comparing high and low risk groups on a ratio of head circumference relative to body size (beta = -0.019, P = 0.75). Future studies may consider looking beyond the macro architecture of the prenatal brain and examine the growth of brain subregions that have been implicated in the presentation of ASD symptoms. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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15. Viana MC, Menezes AN, Moreira MA, Pissinatti A, Seuanez HN. {{MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution}}. {BMC Genet};2015;16(1):77.
BACKGROUND: The methyl-CpG Binding Protein two gene (MECP2) encodes a multifunctional protein comprising two isoforms involved in nuclear organization and regulation of splicing and mRNA template activity. This gene is normally expressed in all tissues, with a higher expression level in the brain during neuronal maturation. Loss of MECP2 function is the primary cause of Rett syndrome (RTT) in humans, a dominant, X-linked disorder dramatically affecting neural and motor development. RESULTS: We investigated the molecular evolution of MECP2 in several primate taxa including 36 species in 16 genera of neotropical (platyrrhine) primates. The coding region of the MECP2_e2 isoform showed a high level of evolutionary conservation among humans and other primates, with amino acid substitutions in 14 codons and one in-frame insertion of a single serine codon, between codons 357 and 358, in Ateles paniscus. Most substitutions occurred in noncritical regions of MECP2 and the majority of the algorithms used for analyzing selection did not provide evidence of positive selection. Conversely, we found 48 sites under negative selection in different regions, 23 of which were consistently found by three different algorithms. Similar to an inverted Alu insert found previously in a lesser ape at a parallel location, one Alu insertion of approximately 300 bp in Cebus and Sapajus was found in intron 3. Phylogenetic reconstruction of the intron 3 data provided a topology that was coincident with the consensus arrangement of the primate taxa. RNAseq data in the neotropical primate Callimico goeldii revealed a novel transcript consisting of a noncontinuous region of the human-homologous intron 2 in this species; this transcript accounted for two putative polypeptides. CONCLUSIONS: Despite the remarkable evolutionary conservation of MECP2, one in-frame codon insertion was observed in A. paniscus, and one region of intron 3 was affected by a trans-specific Alu retrotransposition in two neotropical primate genera. Moreover, identification of novel MECP2 transcripts in Callimico suggests that part of a homologous human intronic region might be expressed, and that the potential open reading frame in this region might be a subject of interest in RTT patients who carry an apparently normal MECP2 sequence.
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16. Yau SH, McArthur G, Badcock NA, Brock J. {{Case study: auditory brain responses in a minimally verbal child with autism and cerebral palsy}}. {Front Neurosci};2015;9:208.
An estimated 30% of individuals with autism spectrum disorders (ASD) remain minimally verbal into late childhood, but research on cognition and brain function in ASD focuses almost exclusively on those with good or only moderately impaired language. Here we present a case study investigating auditory processing of GM, a nonverbal child with ASD and cerebral palsy. At the age of 8 years, GM was tested using magnetoencephalography (MEG) whilst passively listening to speech sounds and complex tones. Where typically developing children and verbal autistic children all demonstrated similar brain responses to speech and nonspeech sounds, GM produced much stronger responses to nonspeech than speech, particularly in the 65-165 ms (M50/M100) time window post-stimulus onset. GM was retested aged 10 years using electroencephalography (EEG) whilst passively listening to pure tone stimuli. Consistent with her MEG response to complex tones, GM showed an unusually early and strong response to pure tones in her EEG responses. The consistency of the MEG and EEG data in this single case study demonstrate both the potential and the feasibility of these methods in the study of minimally verbal children with ASD. Further research is required to determine whether GM’s atypical auditory responses are characteristic of other minimally verbal children with ASD or of other individuals with cerebral palsy.