1. Bittker SS, Bell KR. {{Acetaminophen, antibiotics, ear infection, breastfeeding, vitamin D drops, and autism: an epidemiological study}}. {Neuropsychiatr Dis Treat}. 2018; 14: 1399-414.
Background: While many studies have examined environmental risk factors for autism spectrum disorder (ASD), much of the research focus has been on prenatal or perinatal factors. Yet, the postnatal environment may affect the risk of ASD as well. Objective: To determine whether a set of five postnatal variables are associated with ASD. These variables are: acetaminophen exposure, antibiotic exposure, incidence of ear infection, decreased duration of breastfeeding, and decreased consumption of oral vitamin D drops. Materials and methods: An Internet-based survey was conducted. Participants were parents living in the USA with at least one biological child between 3 and 12 years of age. Potential participants were informed about the survey via postings on social media, websites, and listservs and were offered an opportunity to participate in a raffle as well. Participants were also recruited through the Interactive Autism Network. Results: There were 1,741 completed survey responses. After exclusions, there remained 1,001 responses associated with children with ASD (cases) and 514 responses associated with children who do not have ASD (controls). In this data set, doses of postnatal acetaminophen (adjusted odds ratio [aOR] 1.016, CI: 1.003-1.032, p=0.026), courses of postnatal antibiotics (aOR 1.103, CI: 1.046-1.168, p<0.001), incidence of postnatal ear infection (aOR 1.137, CI: 1.046-1.236, p=0.003), and decreased duration of breastfeeding (aOR 0.948, CI: 0.932-0.965, p<0.001) are all associated with ASD when adjusted for eight demographic variables. A weak association between oral vitamin D drop exposure and ASD was also found when adjusted for breastfeeding and demographics (aOR 1.025, CI: 0.995-1.056, p=0.102). Conclusion: This study adds to evidence that postnatal acetaminophen use, postnatal antibiotic use, incidence of ear infection, and early weaning are associated with an increased risk of ASD. It also finds that postnatal oral vitamin D drops are weakly associated with ASD when adjusted for breastfeeding and demographics. Lien vers le texte intégral (Open Access ou abonnement)
2. Bours C, Bakker-Huvenaars MJ, Tramper J, Bielczyk N, Scheepers F, Nijhof KS, Baanders AN, Lambregts-Rommelse NNJ, Medendorp P, Glennon JC, Buitelaar JK. {{Emotional face recognition in male adolescents with autism spectrum disorder or disruptive behavior disorder: an eye-tracking study}}. {Eur Child Adolesc Psychiatry}. 2018.
Autism Spectrum Disorder (ASD), Oppositional Defiant Disorder (ODD), and Conduct Disorder (CD) are often associated with emotion recognition difficulties. This is the first eye-tracking study to examine emotional face recognition (i.e., gazing behavior) in a direct comparison of male adolescents with Autism Spectrum Disorder or Oppositional Defiant Disorder/Conduct Disorder, and typically developing (TD) individuals. We also investigate the role of psychopathic traits, callous-unemotional (CU) traits, and subtypes of aggressive behavior in emotional face recognition. A total of 122 male adolescents (N = 50 ASD, N = 44 ODD/CD, and N = 28 TD) aged 12-19 years (M = 15.4 years, SD= 1.9) were included in the current study for the eye-tracking experiment. Participants were presented with neutral and emotional faces using a Tobii 1750 eye-tracking monitor to record gaze behavior. Our main dependent eye-tracking variables were: (1) fixation duration to the eyes of a face and (2) time to the first fixation to the eyes. Since distributions of eye-tracking variables were not completely Gaussian, non-parametric tests were chosen to investigate gaze behavior across the diagnostic groups with Autism Spectrum Disorder, Oppositional Defiant Disorder/Conduct Disorder, and Typically Developing individuals. Furthermore, we used Spearman correlations to investigate the links with psychopathy, callous, and unemotional traits and subtypes of aggression as assessed by questionnaires. The relative total fixation duration to the eyes was decreased in both the Autism Spectrum Disorder group and the Oppositional Defiant Disorder/Conduct Disorder group for several emotional expressions. In both the Autism Spectrum Disorder and the Oppositional Defiant Disorder/Conduct Disorder group, increased time to first fixation on the eyes of fearful faces only was nominally significant. The time to first fixation on the eyes was nominally correlated with psychopathic traits and proactive aggression. The current findings do not support strong claims for differential cross-disorder eye-gazing deficits and for a role of shared underlying psychopathic traits, callous-unemotional traits, and aggression subtypes. Our data provide valuable and novel insights into gaze timing distributions when looking at the eyes of a fearful face.
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3. Cohenour JM, Volkert VM, Allen KD. {{An experimental demonstration of AAB renewal in children with autism spectrum disorder}}. {Journal of the experimental analysis of behavior}. 2018; 110(1): 63-73.
Operant renewal is a return of extinguished behavior due to changes in contextual stimuli that control the occurrence or nonoccurrence of a response. Well-established in classical conditioning and operant research, renewal presents itself in three forms-ABA, ABC, and AAB-and poses threats to treatment maintenance where extinction procedures are utilized. As AAB renewal may be less likely to occur than ABA or ABC renewal, the current study sought to determine if AAB renewal would occur with three participants with Autism Spectrum Disorder who were taught a simple lever pull response. Results showed that lever pulls increased for two of three participants when we introduced novel stimuli (i.e., a light and a buzzer) to alter the contextual environment after extinction. These findings suggest that AAB renewal may account for some instances of response recovery after extinction and that the procedure of this study may be beneficial to the further study of renewal and the variables that affect its occurrence within a translational model.
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4. DeQuinzio JA, Taylor BA, Tomasi BJ. {{Observational learning and children with autism: discrimination training of known and unknown stimuli}}. {Journal of applied behavior analysis}. 2018.
We extended past observational learning research by incorporating stimuli already known to participants into training. We used a multiple-baseline design across three participants to determine the effects of discrimination training on the discrimination of consequences applied to modeled responses using both known and unknown pictures. During baseline, participants were exposed to modeled correct and incorrect picture labels and were observed to imitate modeled responses that were incorrect and followed by negative feedback. During discrimination training, we taught participants to label known pictures regardless of observed responses and consequences. With unknown pictures, we taught participants to imitate correct and reinforced modeled responses, and to say, « I don’t know, » when modeled responses were incorrect and received negative feedback. Test sessions measured responding to known and unknown pictures and showed acquisition over baseline levels. Generalization to pictures not associated with training was variable. Implications for teaching observational learning to children with autism are discussed.
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5. Durbin A, Balogh R, Lin E, Wilton AS, Lunsky Y. {{Emergency Department Use: Common Presenting Issues and Continuity of Care for Individuals With and Without Intellectual and Developmental Disabilities}}. {J Autism Dev Disord}. 2018.
This population-based cohort study examined the relationship between level of continuity of primary care and subsequent emergency department (ED) visits for adults with (n = 66,484) and without intellectual and developmental disabilities (IDD)(n = 2,760,670). Individuals with IDD were more likely than individuals with no IDD to visit the ED (33.96% versus 20.28%, p < 0.0001). For both groups receiving greater continuity of primary care was associated with less ED use, but this relationship was more marked for adults with IDD. While continuity of primary care can reduce ED use for populations with and without IDD, it is a higher priority for individuals with IDD whose cognitive and adaptive impairments may complicate help-seeking, diagnosis, and treatment. Improving primary care can have far-reaching implications for this complex population. Lien vers le texte intégral (Open Access ou abonnement)
6. Durrleman S, Gavarro A. {{Editorial: Investigating Grammar in Autism Spectrum Disorders}}. {Front Psychol}. 2018; 9: 1004.
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7. Eisenbaum E. {{Tobacco product use and smoking frequency among US adults with intellectual and developmental disabilities}}. {J Intellect Disabil Res}. 2018; 62(8): 709-18.
BACKGROUND: People with intellectual and developmental disabilities (IDD) have been overlooked in tobacco use research although they are likely to experience tobacco-related health disparities. This study examined tobacco product use and smoking frequency and amount among a sample of US Special Olympics athletes with IDD. METHODS: Multiple regression analysis was used to test whether age, gender, body mass index, blood pressure, bone density, eating fruits and vegetables and family member tobacco use were correlated with the number of cigarettes smoked per day. RESULTS: The sample of people with IDD who used tobacco (n = 501) were aged 18-75 (M = 33.37) and 76.4% were male. About 73.6% reported cigarette use only, 10.6% reported dual or poly use of cigarettes and other tobacco products (cigars, pipe, and chewing tobacco) and 15.8% reported using only tobacco products other than cigarettes. Men were more likely than women to use tobacco products other than cigarettes. Of the cigarette smokers, 79.6% were daily smokers, and their mean cigarettes per day was 10.08 (SD = 9.50). Special Olympics athletes who did not have low bone density and those who consumed fruits and vegetables less than daily reported higher numbers of cigarettes per day. CONCLUSIONS: Although people with IDD are less likely to use tobacco than the general population, study results suggest that people with IDD who smoke cigarettes are just as likely as smokers in the general US population to smoke daily. Improving overall health behaviours may be important in helping smokers with IDD to reduce their tobacco use. Research is needed to understand longitudinal patterns of tobacco use and how to prevent tobacco use among people with IDD.
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8. Ferretti F, Adornetti I, Chiera A, Nicchiarelli S, Valeri G, Magni R, Vicari S, Marini A. {{Time and Narrative: An Investigation of Storytelling Abilities in Children With Autism Spectrum Disorder}}. {Front Psychol}. 2018; 9: 944.
This study analyzed the relation between mental time travel (MTT) and the ability to produce a storytelling focusing on global coherence, which is one of the most notable characteristics of narrative discourse. As global coherence is strictly tied to the temporal sequence of the events narrated in a story, we hypothesized that the construction of coherent narratives would rely on the ability to mentally navigate in time. To test such a hypothesis, we investigated the relation between one component of MTT-namely, episodic future thinking (EFT)-and narrative production skills by comparing the narratives uttered by 66 children with high-functioning autism spectrum disorder (ASD) with those produced by 66 children with typical development. EFT was assessed by administering a task with minimal narrative demands, whereas storytelling production skills were assessed by administering two narrative production tasks that required children to generate future or past episodes with respect to the target stimuli. The results showed that EFT skills were impaired only in a subgroup of children with ASD and that such subgroup performed significantly worse on the narrative production task than ASD participants with high EFT skills and participants with typical development. The practical and theoretical implications of these findings are discussed.
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9. Heaton P, Tsang WF, Jakubowski K, Mullensiefen D, Allen R. {{Discriminating autism and language impairment and specific language impairment through acuity of musical imagery}}. {Res Dev Disabil}. 2018; 80: 52-63.
Deficits in auditory short-term memory have been widely reported in children with Specific Language Impairment (SLI), and recent evidence suggests that children with Autism Spectrum Disorder and co-morbid language impairment (ALI) experience similar difficulties. Music, like language relies on auditory memory and the aim of the study was to extend work investigating the impact of auditory short-term memory impairments to musical perception in children with neurodevelopmental disorders. Groups of children with SLI and ALI were matched on chronological age (CA), receptive vocabulary, non-verbal intelligence and digit span, and compared with CA matched typically developing (TD) controls, on tests of pitch and temporal acuity within a voluntary musical imagery paradigm. The SLI participants performed at significantly lower levels than the ALI and TD groups on both conditions of the task and their musical imagery and digit span scores were positively correlated. In contrast ALI participants performed as well as TD controls on the tempo condition and better than TD controls on the pitch condition of the task. Whilst auditory short-term memory and receptive vocabulary impairments were similar across ALI and SLI groups, these were not associated with a deficit in voluntary musical imagery performance in the ALI group.
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10. Heise C, Preuss JM, Schroeder JC, Battaglia CR, Kolibius J, Schmid R, Kreutz MR, Kas MJH, Burbach JPH, Boeckers TM. {{Heterogeneity of Cell Surface Glutamate and GABA Receptor Expression in Shank and CNTN4 Autism Mouse Models}}. {Front Mol Neurosci}. 2018; 11: 212.
Autism spectrum disorder (ASD) refers to a large set of neurodevelopmental disorders, which have in common both repetitive behavior and abnormalities in social interactions and communication. Interestingly, most forms of ASD have a strong genetic contribution. However, the molecular underpinnings of this disorder remain elusive. The SHANK3 gene (and to a lesser degree SHANK2) which encode for the postsynaptic density (PSD) proteins SHANK3/SHANK2 and the CONTACTIN 4 gene which encodes for the neuronal glycoprotein CONTACTIN4 (CNTN4) exhibit mutated variants which are associated with ASD. Like many of the other genes associated with ASD, both SHANKs and CNTN4 affect synapse formation and function and are therefore related to the proper development and signaling capability of excitatory and inhibitory neuronal networks in the adult mammal brain. In this study, we used mutant/knock-out mice of Shank2 (Shank2(-/-)), Shank3 (Shank3alphabeta(-/-)), and Cntn4 (Cntn4(-/-)) as ASD-models to explore whether these mice share a molecular signature in glutamatergic and GABAergic synaptic transmission in ASD-related brain regions. Using a biotinylation assay and subsequent western blotting we focused our analysis on cell surface expression of several ionotropic glutamate and GABA receptor subunits: GluA1, GluA2, and GluN1 were analyzed for excitatory synaptic transmission, and the alpha1 subunit of the GABAA receptor was analyzed for inhibitory synaptic transmission. We found that both Shank2(-/-) and Shank3alphabeta(-/-) mice exhibit reduced levels of several cell surface glutamate receptors in the analyzed brain regions-especially in the striatum and thalamus-when compared to wildtype controls. Interestingly, even though Cntn4(-/-) mice also show reduced levels of some cell surface glutamate receptors in the cortex and hippocampus, increased levels of cell surface glutamate receptors were found in the striatum. Moreover, Cntn4(-/-) mice do not only show brain region-specific alterations in cell surface glutamate receptors but also a downregulation of cell surface GABA receptors in several of the analyzed brain regions. The results of this study suggest that even though mutations in defined genes can be associated with ASD this does not necessarily result in a common molecular phenotype in surface expression of glutamatergic and GABAergic receptor subunits in defined brain regions.
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11. Jaswal VK, Akhtar N. {{Being vs. Appearing Socially Uninterested: Challenging Assumptions about Social Motivation in Autism}}. {The Behavioral and brain sciences}. 2018: 1-84.
Progress in psychological science can be limited by a number of factors, not least of which are the starting assumptions of scientists themselves. We believe that some influential accounts of autism rest on a questionable assumption that many of its behavioral characteristics indicate a lack of social interest-an assumption that is flatly contradicted by the testimony of many autistic people themselves. In this paper, we challenge this assumption by describing alternative explanations for four such behaviors: (a) low levels of eye contact, (b) infrequent pointing, (c) motor stereotypies, and (d) echolalia. The assumption that autistic people’s unusual behaviors indicate diminished social motivation has had profound and often negative effects on the ways they are studied and treated. We argue that understanding and supporting autistic individuals will require interrogating this assumption, taking autistic testimony seriously, considering alternative explanations for unusual behaviors, and investigating unconventional-even idiosyncratic-ways that autistic individuals may express their social interest. These steps are crucial, we believe, for creating a more accurate, humane, and useful science of autism.
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12. McDaniel J, Yoder P, Woynaroski T, Watson LR. {{Predicting Receptive-Expressive Vocabulary Discrepancies in Preschool Children With Autism Spectrum Disorder}}. {Journal of speech, language, and hearing research : JSLHR}. 2018; 61(6): 1426-39.
Purpose: Correlates of receptive-expressive vocabulary size discrepancies may provide insights into why language development in children with autism spectrum disorder (ASD) deviates from typical language development and ultimately improve intervention outcomes. Method: We indexed receptive-expressive vocabulary size discrepancies of 65 initially preverbal children with ASD (20-48 months) to a comparison sample from the MacArthur-Bates Communicative Development Inventories Wordbank (Frank, Braginsky, Yurovsky, & Marchman, 2017) to quantify typicality. We then tested whether attention toward a speaker and oral motor performance predict typicality of the discrepancy 8 months later. Results: Attention toward a speaker correlated positively with receptive-expressive vocabulary size discrepancy typicality. Imitative and nonimitative oral motor performance were not significant predictors of vocabulary size discrepancy typicality. Secondary analyses indicated that midpoint receptive vocabulary size mediated the association between initial attention toward a speaker and end point receptive-expressive vocabulary size discrepancy typicality. Conclusions: Findings support the hypothesis that variation in attention toward a speaker might partially explain receptive-expressive vocabulary size discrepancy magnitude in children with ASD. Results are consistent with an input-processing deficit explanation of language impairment in this clinical population. Future studies should test whether attention toward a speaker is malleable and causally related to receptive-expressive discrepancies in children with ASD.
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13. Modi ME, Brooks JM, Guilmette ER, Beyna M, Graf R, Reim D, Schmeisser MJ, Boeckers TM, O’Donnell P, Buhl DL. {{Hyperactivity and Hypermotivation Associated With Increased Striatal mGluR1 Signaling in a Shank2 Rat Model of Autism}}. {Front Mol Neurosci}. 2018; 11: 107.
Mutations in the SHANK family of genes have been consistently identified in genetic and genomic screens of autism spectrum disorder (ASD). The functional overlap of SHANK with several other ASD-associated genes suggests synaptic dysfunction as a convergent mechanism of pathophysiology in ASD. Although many ASD-related mutations result in alterations to synaptic function, the nature of those dysfunctions and the consequential behavioral manifestations are highly variable when expressed in genetic mouse models. To investigate the phylogenetic conservation of phenotypes resultant of Shank2 loss-of-function in a translationally relevant animal model, we generated and characterized a novel transgenic rat with a targeted mutation of the Shank2 gene, enabling an evaluation of gene-associated phenotypes, the elucidation of complex behavioral phenotypes, and the characterization of potential translational biomarkers. The Shank2 loss-of-function mutation resulted in a notable phenotype of hyperactivity encompassing hypermotivation, increased locomotion, and repetitive behaviors. Mutant rats also expressed deficits in social behavior throughout development and in the acquisition of operant tasks. The hyperactive phenotype was associated with an upregulation of mGluR1 expression, increased dendritic branching, and enhanced long-term depression (LTD) in the striatum but opposing morphological and cellular alterations in the hippocampus (HP). Administration of the mGluR1 antagonist JNJ16259685 selectively normalized the expression of striatally mediated repetitive behaviors and physiology but had no effect on social deficits. Finally, Shank2 mutant animals also exhibited alterations in electroencephalography (EEG) spectral power and event-related potentials, which may serve as translatable EEG biomarkers of synaptopathic alterations. Our results show a novel hypermotivation phenotype that is unique to the rat model of Shank2 dysfunction, in addition to the traditional hyperactive and repetitive behaviors observed in mouse models. The hypermotivated and hyperactive phenotype is associated with striatal dysfunction, which should be explored further as a targetable mechanism for impairment in ASD.
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14. Muesbeck J, St John BM, Kant S, Ausderau KK. {{Use of Props During Mealtime for Children With Autism Spectrum Disorders: Self-Regulation and Reinforcement}}. {OTJR : occupation, participation and health}. 2018: 1539449218778558.
Mealtime is an important family routine commonly affected for families with children with autism spectrum disorders (ASD). Limited research is available regarding strategies families incorporate to support mealtime engagement. The purpose of this study was to explore the frequency and characterize the purpose of Props used during mealtimes with children with ASD. A total of 12 families with a child(ren), N = 14, aged 2 to 7 years, with ASD and mealtime challenges or eating difficulties participated in video-recorded mealtimes in their home. Independent coders analyzed mealtimes for the frequency and purpose of Props (items used to support child participation during mealtime). Props were used by 75% of families ( n = 9); common Props included toys, electronics, and books. Props were used primarily as a self-regulation tool for the child and occasionally as positive reinforcement for specific behaviors. Overall, Props were used to support child engagement in mealtime. Occupational therapists should consider using Props as individualized, accessible, and supportive mealtime interventions for families and children.
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15. Schnell LK, Vladescu JC, Kodak T, Nottingham CL. {{Comparing procedures on the acquisition and generalization of tacts for children with autism spectrum disorder}}. {Journal of applied behavior analysis}. 2018.
Generalization is a critical outcome for individuals with autism spectrum disorder (ASD) who display new skills in a limited range of contexts. In the absence of proper planning, generalization may not be observed. The purpose of the current study was to directly compare serial to concurrent multiple exemplar training using total training time per exemplar, mean total training time, and exposures to mastery across three children diagnosed with ASD. Additionally, we assessed the efficiency of presenting secondary targets in the antecedent and consequence portions of learning trials and evaluated generalization to tacts not associated with direct teaching. Results suggested that all training conditions produced acquisition and generalization for trained and untrained exemplars. However, the serial multiple exemplar training condition was more efficient for two participants, whereas the instructive feedback condition was the most efficient for the third. Findings are discussed considering previous studies and areas for future research.
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16. Sota S, Hatada S, Honjyo K, Takatsuka T, Honer WG, Morinobu S, Sawada K. {{Musical disability in children with autism spectrum disorder}}. {Psychiatry Res}. 2018; 267: 354-9.
Although enhanced musical ability is reported in individuals with autism spectrum disorders (ASD), this observation may be uncommon, and reports of auditory processing deficits suggest musical ability may be impaired. We hypothesized that musical ability would be impaired in children with ASD, that the severity of impairment would correlate with cognitive dysfunction, and with clinical features of illness. We evaluated 26 children with ASD and 27 typically developing (TD) children using the Montreal Battery of Evaluation of Amusia short version (MBEA-s) as well as cognitive tests and clinical evaluations of ASD symptomatology. Mean scores on the MBEA-s were significantly lower in children with ASD. MBEA-s scores did not correlate with cognitive test results in either ASD or TD children, and did not correlate with symptom severity in ASD children. For the ASD children only, the combination of hyperactivity/inattention and working memory resulted in a significant contribution to the variance in the MBEA-s score. The findings indicate that musical ability appears to be impaired in children with ASD, and assessment of musical ability may complement cognitive tests and measures of symptomatology in characterizing the shared neural substrates for these dysfunctions in ASD.
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17. Wang F, Lu L, Wang SB, Zhang L, Ng CH, Ungvari GS, Cao XL, Lu JP, Hou CL, Jia FJ, Xiang YT. {{The prevalence of autism spectrum disorders in China: a comprehensive meta-analysis}}. {International journal of biological sciences}. 2018; 14(7): 717-25.
There are conflicting prevalence estimates of autism spectrum disorders (ASDs) in mainland China (China thereafter). This study is a comprehensive meta-analysis of the pooled prevalence of ASDs in the general population in China. Study investigators independently conducted a systematic literature search of the following databases: PubMed, EMBASE, PsycINFO, China National Knowledge Infrastructure, Chinese biomedical literature service system, and Wan Fang. Studies reporting prevalence of ASDs and autism in Chinese population were identified and analysed using the Comprehensive Meta-Analysis program with the random effects model. Forty-four studies were included in the meta-analysis comprising 2,337,321 subjects of whom 46.66 % were females. The mean age of subjects ranged from 1.6 to 8 years. Based on diagnostic criteria the pooled prevalence of ASDs was 39.23 per 10,000 (95% CI: 28.44-50.03 per 10,000, I(2)=89.2%); specifically, the prevalence of autism was 10.18 per 10,000 (95% CI: 8.46-11.89 per 10,000, I(2)=92.5%). Subgroup analyses revealed significant difference in the prevalence of ASDs between genders (72.77 per 10,000 in males vs. 16.45 per 10,000 in females). In conclusion, the prevalence of ASDs and autism in China was found generally lower than those reported in other countries. Further studies are needed to clarify the variation in prevalence.
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18. Wang J, Wang Q, Zhang H, Chen J, Wang S, Shen D. {{Sparse Multiview Task-Centralized Ensemble Learning for ASD Diagnosis Based on Age- and Sex-Related Functional Connectivity Patterns}}. {IEEE transactions on cybernetics}. 2018.
Autism spectrum disorder (ASD) is an age- and sex-related neurodevelopmental disorder that alters the brain’s functional connectivity (FC). The changes caused by ASD are associated with different age- and sex-related patterns in neuroimaging data. However, most contemporary computer-assisted ASD diagnosis methods ignore the aforementioned age-/sex-related patterns. In this paper, we propose a novel sparse multiview task-centralized (Sparse-MVTC) ensemble classification method for image-based ASD diagnosis. Specifically, with the age and sex information of each subject, we formulate the classification as a multitask learning problem, where each task corresponds to learning upon a specific age/sex group. We also extract multiview features per subject to better reveal the FC changes. Then, in Sparse-MVTC learning, we select a certain central task and treat the rest as auxiliary tasks. By considering both task-task and view-view relationships between the central task and each auxiliary task, we can learn better upon the entire dataset. Finally, by selecting the central task, in turn, we are able to derive multiple classifiers for each task/group. An ensemble strategy is further adopted, such that the final diagnosis can be integrated for each subject. Our comprehensive experiments on the ABIDE database demonstrate that our proposed Sparse-MVTC ensemble learning can significantly outperform the state-of-the-art classification methods for ASD diagnosis.
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19. Whitehouse AJO, Alvares GA, Cleary D, Harun A, Stojanoska A, Taylor LJ, Varcin KJ, Maybery M. {{Symptom severity in autism spectrum disorder is related to the frequency and severity of nausea and vomiting during pregnancy: a retrospective case-control study}}. {Mol Autism}. 2018; 9: 37.
Background: Nausea and vomiting during pregnancy (NVP) is thought to be caused by changes in maternal hormones during pregnancy. Differences in hormone exposure during prenatal life have been implicated in the causal pathways for some cases of autism spectrum disorder (ASD). However, no study has investigated whether the presence and severity of NVP may be related to symptom severity in offspring with ASD. Methods: A large sample of children with ASD (227 males and 60 females, aged 2 to 18 years) received a clinical assessment, during which parents completed questionnaires regarding their child’s social (Social Responsiveness Scale, SRS) and communication (Children’s Communication Checklist-2nd edition, CCC-2) symptoms. Parents also reported on a 5-point scale the frequency and severity of NVPs during the pregnancy of the child being assessed: (1) no NVP during the pregnancy, (2) occasional nausea, but no vomiting, (3) daily nausea, but no vomiting, (4) occasional vomiting, with or without nausea, and (5) daily nausea and vomiting. Results: Impairments in social responsiveness in offspring, as indexed by SRS total score, significantly increased as a function of the frequency and severity of their mothers’ NVP, as did the level of language difficulties as indexed by the Global Communication Composite of the CCC-2. Conclusions: The strong, positive association between increasing frequency and severity of NVP and ASD severity in offspring provides further evidence that exposure to an atypical hormonal environment during prenatal life may affect neurodevelopment and contribute to the ASD phenotype. Given that the measure of NVP symptoms in the current study was based on retrospective recall, replication of this finding is required before strong conclusions can be drawn.
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20. Yoshizawa M, Settle A, Hermosura MC, Tuttle LJ, Cetraro N, Passow CN, McGaugh SE. {{The evolution of a series of behavioral traits is associated with autism-risk genes in cavefish}}. {BMC evolutionary biology}. 2018; 18(1): 89.
BACKGROUND: An essential question in evolutionary biology is whether shifts in a set of polygenic behaviors share a genetic basis across species. Such a behavioral shift is seen in the cave-dwelling Mexican tetra, Astyanax mexicanus. Relative to surface-dwelling conspecifics, cavefish do not school (asocial), are hyperactive and sleepless, adhere to a particular vibration stimulus (imbalanced attention), behave repetitively, and show elevated stress hormone levels. Interestingly, these traits largely overlap with the core symptoms of human autism spectrum disorder (ASD), raising the possibility that these behavioral traits are underpinned by a similar set of genes (i.e. a repeatedly used suite of genes). RESULT: Here, we explored whether modification of ASD-risk genes underlies cavefish evolution. Transcriptomic analyses revealed that > 58.5% of 3152 cavefish orthologs to ASD-risk genes are significantly up- or down-regulated in the same direction as genes in postmortem brains from ASD patients. Enrichment tests suggest that ASD-risk gene orthologs in A. mexicanus have experienced more positive selection than other genes across the genome. Notably, these positively selected cavefish ASD-risk genes are enriched for pathways involved in gut function, inflammatory diseases, and lipid/energy metabolism, similar to symptoms that frequently coexist in ASD patients. Lastly, ASD drugs mitigated cavefish’s ASD-like behaviors, implying shared aspects of neural processing. CONCLUSION: Overall, our study indicates that ASD-risk genes and associated pathways (especially digestive, immune and metabolic pathways) may be repeatedly used for shifts in polygenic behaviors across evolutionary time.
