1. Bartlomiej G, Zygmunt G, Magdalena G, Malgorzata A, Beata K, Piotr K, Halina RK, Jerzy C, Gayane M. {{Toxin profile of fecal Clostridium perfringens strains isolated from children with autism spectrum disorders}}. {Anaerobe}. 2018.
Infectious factors are taken into consideration in pathophysiology of autism spectrum disorders (ASD). ASD patients often suffer from gastrointestinal disorders. The intestinal microbiota of autistic patients significantly differs from that in healthy individuals. The aim of the study was to compare the profile of toxins produced by C. perfringens strains isolated from feces of children with ASD, with healthy individuals and obese subjects. This study included 111 strains of C. perfringens: 49 isolates from 29 children with ASD, 30 – from 17 healthy individuals and 32 – from 24 young obese subjects. Alpha, beta, beta2, epsilon, iota and enterotoxin genes were detected using appropriate PCRs. The alpha toxin gene (cpa) was present in all 111 examined strains (100%). The beta2 gene (cpb2) was detected in 45/49 strains (91.8%) isolated from children with ASD, 17/30 (56.7%) isolates from healthy subjects, and 12 of 32 (37.5%) isolates from obese subjects. C. perfringens strains with cpb2 gene were detected in 27/29 ASD patients (93.1%), 10/17 healthy subjects (58.8%) and 11/24 (45.8%) obese subjects. Beta2 toxin encoding cpb2 gene was significantly more common in strains isolated from ASD patients, with no significant difference between control subjects regardless of diet. Further research to explain observed phenomena and pathomechanism of beta2 toxin is required.
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2. Bos MGN, Diamantopoulou S, Stockmann L, Begeer S, Rieffe C. {{Emotion Control Predicts Internalizing and Externalizing Behavior Problems in Boys With and Without an Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Children and adolescents with Autism Spectrum Disorder (ASD) often show comorbid emotional and behavior problems. The aim of this longitudinal study is to examine the relation between emotion control (i.e., negative emotionality, emotion awareness, and worry/rumination) and the development of internalizing and externalizing problems. Boys with and without ASD (N = 157; age 9-15) were followed over a period of 1.5 years (3 waves). We found that baseline levels of worry/rumination was a specific predictor of later externalizing problems for boys with ASD. Furthermore, the developmental trajectory of worry/rumination predicted the development of internalizing and externalizing problems in both groups. Our findings suggest that worry/rumination may constitute a transdiagnostic factor underlying both internalizing and externalizing problems in boys with and without ASD.
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3. Boxhoorn S, Lopez E, Schmidt C, Schulze D, Hanig S, Freitag CM. {{Attention profiles in autism spectrum disorder and subtypes of attention-deficit/hyperactivity disorder}}. {Eur Child Adolesc Psychiatry}. 2018.
Attention problems are observed in attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Most neuropsychological studies that compared both disorders focused on complex executive functions (EF), but missed to contrast basic attention functions, as well as ASD- and ADHD subtypes. The present study compared EF as well as basic attention functioning of children with the combined subtype (ADHD-C), the predominantly inattentive subtype (ADHD-I), and autism spectrum disorder without ADHD (ASD-) with typically developing controls (TD). Basic attention functions and EF profiles were analysed by testing the comprehensive attention function model of van Zomeren and Brouwer using profile analysis. Additionally, neurocognitive impairments in ASD- and ADHD were regressed on dimensional measures of attention- and hyperactive-impulsive symptoms across and within groups. ADHD-C revealed a strong impairment across measures of EF compared to ASD- and TD. The ADHD-C profile furthermore showed disorder specific impairments in interference control, whereas the ASD- profile showed a disorder specific impairment in basic attention component divided attention. Attention- and hyperactive-impulsive symptom severity did not predict neurocognitive impairments across- or within groups. Study findings thus support disorder and subtype specific attention/EF profiles, which refute the idea of a continuum of ADHD-I, ADHD-C, and ASD with increasing neurocognitive impairments.
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4. Doi H, Fujisawa TX, Iwanaga R, Matsuzaki J, Kawasaki C, Tochigi M, Sasaki T, Kato N, Shinohara K. {{Association between single nucleotide polymorphisms in estrogen receptor 1/2 genes and symptomatic severity of autism spectrum disorder}}. {Res Dev Disabil}. 2018.
BACKGROUND: Previous studies on etiology of autism spectrum disorders (ASD) have shown strong contribution of hereditary factors. On the basis the heterogeneity in ASD symptoms, it is highly possible that each independent domain of ASD symptom is linked to a different set of genetic risk factors. However, few empirical investigations have been carried out to examine this hypothesis. AIMS: The aim of the present study was to investigate the association between single-nucleotide polymorphisms (SNPs) in estrogen receptor genes, which several previous studies have identified as potential risk factors of ASD, and the severity of each independent aspect of ASD symptom within an Asian clinical sample. METHOD AND PROCEDURES: We investigated the association between severities of four ASD symptoms (Social Communication, Social Interaction, Stereotypies and Sensory Abnormalities, and Emotional Regulation) measured by childhood autism rating scale and SNPs in genes of estrogen receptor 1 and 2, ESR1 rs11155819 and ESR2 rs1152582, in 96 Japanese individuals with ASD. OUTCOMES AND RESULTS: The analysis revealed that severities in the impairment of social interaction and emotional regulation were linked to SNPs in ESR1 rs11155819 and ESR2 rs1152582, respectively. The effect of genotype was not observed for the other aspects of ASD symptoms. CONCLUSIONS AND IMPLICATIONS: These findings support our contention that the severity of each ASD symptom domain is determined by a distinct set of genetic risk factors.
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5. Fluegge K. {{The interaction of ozone and copy number variation on risk for autism: Does environmental exposure to nitrous oxide explain the interaction?}}. {Autism Res}. 2018.
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6. Frampton SE, Alice Shillingsburg M. {{Teaching children with autism to explain how: A case for problem solving?}}. {Journal of applied behavior analysis}. 2018.
Few studies have applied Skinner’s (1953) conceptualization of problem solving to teach socially significant behaviors to individuals with developmental disabilities. The current study used a multiple probe design across behavior (sets) to evaluate the effects of problem-solving strategy training (PSST) on the target behavior of explaining how to complete familiar activities. During baseline, none of the three participants with autism spectrum disorder (ASD) could respond to the problems presented to them (i.e., explain how to do the activities). Tact training of the actions in each activity alone was ineffective; however, all participants demonstrated independent explaining-how following PSST. Further, following PSST with Set 1, tact training alone was sufficient for at least one scenario in sets 2 and 3 for all 3 participants. Results have implications for generative responding for individuals with ASD and further the discussion regarding the role of problem solving in complex verbal behavior.
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7. Gupta H, Sabde Y. {{Medicosocial characteristics as predictors of school achievements in students with intellectual and developmental disabilities: A follow-up study in ujjain and shajapur districts of Madhya Pradesh, India}}. {Indian journal of public health}. 2018; 62(1): 39-46.
Background: For a long time, there have been arguments about which factors influence the skill development of students with intellectual disability in rehabilitation centers. Objective: The present follow-up study was thus planned to analyze the effect of the demographic variables related to disabled child, his/her parents and the family; their schooling pattern and types of study settings and the associated comorbidities on improvement in the performance score of students attending these study settings in one academic year. Methods: The study was conducted among children (n = 204) with intellectual disability receiving rehabilitation services in centers run by a nongovernmental organization in two districts of Central India. Results: : Application of regression analysis concluded that among various hypothesized factors higher birth order, more time spent by parents for child’s development at home, high performing classes, absence of epilepsy, psychiatric comorbidities, and associated physically challenged were significantly associated with improvement in overall mean performance score. Conclusions: : The study delineates the need to motivate parents, so that they can involve themselves to develop their child’s full potential. Identification of associated comorbidities is recommended and parents need to be appraised accordingly.
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8. Hartley C, Fisher S. {{Do Children with Autism Spectrum Disorder Share Fairly and Reciprocally?}}. {J Autism Dev Disord}. 2018.
This study investigated whether children with autism spectrum disorder (ASD) and typically developing children matched on receptive language share resources fairly and reciprocally. Children completed age-appropriate versions of the Ultimatum and Dictator Games with real stickers and an interactive partner. Both groups offered similar numbers of stickers (preferring equality over self-interest), offered more stickers in the Ultimatum Game, and verbally referenced ‘fairness’ at similar rates. However, children with ASD were significantly more likely to accept unfair offers and were significantly less likely to reciprocate the puppet’s offers. Failure to reciprocate fair sharing may significantly impact on social cohesion and children’s ability to build relationships. These important differences may be linked to broader deficits in social-cognitive development and potentially self-other understanding.
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9. Lau AA, Tamang SJ, Hemsley KM. {{MPS-IIIA mice acquire autistic behaviours with age}}. {Journal of inherited metabolic disease}. 2018.
Mucopolysaccharidosis (MPS) type IIIA is an inherited, neurodegenerative lysosomal storage disorder resulting from mutations in the SGSH gene. Consequently, N-sulphoglucosamine sulphohydrolase enzyme activity is reduced resulting in impaired catabolism of heparan sulphate. After an asymptomatic period, patients typically show a progressive loss of cognitive and motor skills, with death often during the second decade of life. The diagnostic criteria of autism spectrum disorders (ASD) include impaired communication and social interactions, as well as displays of repetitive behaviours and fixed interests. Children with MPS-IIIA have been shown to exhibit decreased social communicative behaviours from approximately 3-4 years of age but behavioural stereotypies are mostly absent. In this study, we investigated whether a mouse model of MPS-IIIA exhibited ASD-like symptoms. The BTBR T(+)Itpr3(tf)/J inbred mouse model of autism was used as a positive control. Male MPS-IIIA and BTBR mice were less sociable compared with unaffected C57BL/6 male mice in the reciprocal social approach test administered at 20 weeks of age. Alternations in the frequency of social interactions was not evident at earlier stages of the disease course, suggesting an acquisition of ASD-like social behaviours. Stereotypical behaviours were not evident in male MPS-IIIA mice in the marble-burying test nor was the quality of nest constructed by mice affected. Collectively, these data suggest that MPS-IIIA mice acquire autistic social behaviours similar to the human condition, and thus they may be useful for elucidating symptom generating mechanisms and novel treatments for ASD.
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10. Muotri AR. {{Autism Spectrum Disorders: Challenges and perspectives}}. {Dev Neurobiol}. 2018.
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11. Neuhofer D, Lassalle O, Manzoni OJ. {{Muscarinic M1 Receptor Modulation of Synaptic Plasticity in Nucleus Accumbens of Wild-Type and Fragile X Mice}}. {ACS chemical neuroscience}. 2018.
We investigated how metabotropic acetylcholine receptors control excitatory synaptic plasticity in the mouse nucleus accumbens core. Pharmacological and genetic approaches revealed that M1 mAChRs (muscarinic acetylcholine receptors) trigger multiple and interacting forms of synaptic plasticity. As previously described in the dorsal striatum, moderate pharmacological activation of M1 mAChR potentiated postsynaptic NMDARs. The M1-potentiation of NMDAR masked a previously unknown coincident TRPV1-mediated long-term depression (LTD). In addition, strong pharmacological activation of M1 mAChR induced canonical retrograde LTD, mediated by presynaptic CB1R. In the fmr1-/y mouse model of Fragile X, we found that CB1R but not TRPV1 M1-LTD was impaired. Finally, pharmacological blockade of the degradation of anandamide and 2-arachidonylglycerol, the two principal endocannabinoids restored fmr1-/y LTD to wild-type levels. These findings shed new light on the complex influence of acetylcholine on excitatory synapses in the nucleus accumbens core and identify new substrates of the synaptic deficits of Fragile X.
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12. Siller M, Hotez E, Swanson M, Delavenne A, Hutman T, Sigman M. {{Parent coaching increases the parents’ capacity for reflection and self-evaluation: results from a clinical trial in autism}}. {Attachment & human development}. 2018: 1-22.
Family-centered parent coaching interventions in autism strive to encourage family engagement and support parent reflection and self-evaluation. This includes the parents’ capacity to: (1) carefully observe the child’s behavior; (2) reflect upon the child’s thoughts, motives, and feelings; (3) consider links between the child’s internal experiences and observable behavior; and (4) grapple with the complex interplay among the child’s experiences and behaviors, contextual factors, parenting strategies, as well as parental goals and emotions. The current study reports data from a clinical trial of Focused Playtime Intervention (FPI), a parent coaching intervention targeting responsive parental behaviors and child communication. Seventy children with autism between 2 and 6 years and their parents were randomly assigned to participate in FPI for 12 weeks or an active control intervention. The Insightfulness Assessment was administered and used (a) to classify parents’ baseline capacity for reflection and self-evaluation as either established (i.e., positively insightful) or emerging, and (b) to capture longitudinal change in the parents’ capacity between baseline, exit (~5 months after baseline), and follow up (~14 months after exit) using a dimensional composite subscale score. Results revealed a significant treatment effect of FPI on growth in the parents’ capacity for reflection and self-evaluation, conditional on the parents’ classification at baseline. That is, parents whose capacity for reflection and self-evaluation was classified as emerging at baseline (n = 42) showed higher rates of growth when assigned to FPI, compared to the control condition. A similar treatment effect was not found for parents whose baseline capacity for reflection and self-evaluation was classified as established (i.e., positively insightful). This is the first study to show that a family-centered parent coaching intervention effectively increases the capacity for reflection and self-evaluation in parents of young children with autism. This capacity may enable parents to adapt and implement intervention strategies flexibly across contexts, daily routines, and interactions.
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13. Wang L, Li G, Adeli E, Liu M, Wu Z, Meng Y, Lin W, Shen D. {{Anatomy-guided joint tissue segmentation and topological correction for 6-month infant brain MRI with risk of autism}}. {Hum Brain Mapp}. 2018.
Tissue segmentation of infant brain MRIs with risk of autism is critically important for characterizing early brain development and identifying biomarkers. However, it is challenging due to low tissue contrast caused by inherent ongoing myelination and maturation. In particular, at around 6 months of age, the voxel intensities in both gray matter and white matter are within similar ranges, thus leading to the lowest image contrast in the first postnatal year. Previous studies typically employed intensity images and tentatively estimated tissue probabilities to train a sequence of classifiers for tissue segmentation. However, the important prior knowledge of brain anatomy is largely ignored during the segmentation. Consequently, the segmentation accuracy is still limited and topological errors frequently exist, which will significantly degrade the performance of subsequent analyses. Although topological errors could be partially handled by retrospective topological correction methods, their results may still be anatomically incorrect. To address these challenges, in this article, we propose an anatomy-guided joint tissue segmentation and topological correction framework for isointense infant MRI. Particularly, we adopt a signed distance map with respect to the outer cortical surface as anatomical prior knowledge, and incorporate such prior information into the proposed framework to guide segmentation in ambiguous regions. Experimental results on the subjects acquired from National Database for Autism Research demonstrate the effectiveness to topological errors and also some levels of robustness to motion. Comparisons with the state-of-the-art methods further demonstrate the advantages of the proposed method in terms of both segmentation accuracy and topological correctness.
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14. Yang YJD, Allen T, Abdullahi SM, Pelphrey KA, Volkmar FR, Chapman SB. {{Neural mechanisms of behavioral change in young adults with high-functioning autism receiving virtual reality social cognition training: A pilot study}}. {Autism Res}. 2018.
Measuring treatment efficacy in individuals with Autism Spectrum Disorder (ASD) relies primarily on behaviors, with limited evidence as to the neural mechanisms underlying these behavioral gains. This pilot study addresses this void by investigating neural and behavioral changes in a Phase I trial in young adults with high-functioning ASD who received an evidence-based behavioral intervention, Virtual Reality-Social Cognition Training over 5 weeks for a total of 10 hr. The participants were tested pre- and post-training with a validated biological/social versus scrambled/nonsocial motion neuroimaging task, previously shown to activate regions within the social brain networks. Three significant brain-behavior changes were identified. First, the right posterior superior temporal sulcus, a hub for socio-cognitive processing, showed increased brain activation to social versus nonsocial stimuli in individuals with greater gains on a theory-of-mind measure. Second, the left inferior frontal gyrus, a region for socio-emotional processing, tracked individual gains in emotion recognition with decreased activation to social versus nonsocial stimuli. Finally, the left superior parietal lobule, a region for visual attention, showed significantly decreased activation to nonsocial versus social stimuli across all participants, where heightened attention to nonsocial contingencies has been considered a disabling aspect of ASD. This study provides, albeit preliminary, some of the first evidence of the harnessable neuroplasticity in adults with ASD through an age-appropriate intervention in brain regions tightly linked to social abilities. This pilot trial motivates future efforts to develop and test social interventions to improve behaviors and supporting brain networks in adults with ASD. Autism Res 2018. (c) 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: This study addresses how the behavioral changes after treatment for ASD reflect underlying brain changes. Before and after receiving VR-SCT, young adults with high-functioning ASD passively viewed biological motion stimuli in a MRI scanner, tapping changes in the social brain network. The results reveal neuroplasticity in this age population, extending the window of opportunity for interventions to impact social competency in adults with ASD.
