1. Abu-Akel AM, Apperly IA, Wood SJ, Hansen PC. {{Autism and psychosis expressions diametrically modulate the right temporoparietal junction}}. {Soc Neurosci};2016 (Jun 3):1-13.
The mentalizing network is atypically activated in autism and schizophrenia spectrum disorders. While these disorders are considered diagnostically independent, expressions of both can co-occur in the same individual. We examined the concurrent effect of autism traits and psychosis proneness on the activity of the mentalizing network in 24 neurotypical adults while performing a social competitive game. Activations were observed in the paracingulate cortex and the right temporoparietal junction (rTPJ). Autism traits and psychosis proneness did not modulate activity within the paracingulate or the dorsal component of the rTPJ. However, diametric modulations of autism traits and psychosis proneness were observed in the posterior (rvpTPJ) and anterior (rvaTPJ) subdivisions of the ventral rTPJ, which respectively constitute core regions within the mentalizing and attention-reorienting networks. Within the rvpTPJ, increasing autism tendencies decreased activity, and increasing psychosis proneness increased activity. This effect was reversed within the rvaTPJ. We suggest that this results from an interaction between regions responsible for higher level social cognitive processing (rvpTPJ) and regions responsible for domain-general attentional processes (rvaTPJ). The observed diametric modulation of autism tendencies and psychosis proneness of neuronal activity within the mentalizing network highlights the importance of assessing both autism and psychosis expressions within the individual.
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2. Berg KL, Shiu CS, Acharya K, Stolbach BC, Msall ME. {{Disparities in adversity among children with autism spectrum disorder: a population-based study}}. {Dev Med Child Neurol};2016 (Jun 2)
AIM: People with autism spectrum disorders (ASDs) experience disparities in health. An important but overlooked risk factor for health disparities in the ASD population is adverse childhood experiences (ACEs). The purpose of this study was to identify the prevalence of ACEs among families of children with and without ASD, using a population-based sample. METHOD: Data from the 2011 to 2012 National Survey of Child Health were analyzed to estimate prevalence of ACEs among families of children with and without ASD, age 3 to 17 years (ASD=1611; estimated population=1 165 34). The child’s ASD status was obtained from parent report; ACEs were assessed with the modified Adverse Childhood Experiences Scale. Bivariate and multinomial logistic regression analyses were utilized to investigate the relationship between ACEs and childhood ASD status. RESULTS: ASD status among children was significantly and independently associated with higher probability of reporting one to three ACEs (adjusted relative risk ratio [aRRR] 1.53; 95% CI: 1.16-2.0; p<0.010) and four or more ACEs (aRRR 1.99; 95% CI: 1.35-2.91; p<0.010). INTERPRETATION: Children with ASD may experience a greater number of family and neighborhood adversities, potentially compromising their chances for optimal physical and behavioral health outcomes. Assessment and reduction of ACEs among families of young people with ASD could potentially contribute to the reduction of population health disparities. Lien vers le texte intégral (Open Access ou abonnement)
3. Berto S, Usui N, Konopka G, Fogel BL. {{ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism}}. {Hum Mol Genet};2016 (Jun 3)
The role of post-transcriptional gene regulation in human brain development and neurodevelopmental disorders remains mostly uncharacterized. ELAV-like RNA-binding proteins are a family of proteins that regulate several aspects of neuronal function including neuronal excitability and synaptic transmission, both critical to the normal function of the brain in cognition and behavior. Here, we identify the downstream neuronal transcriptional and splicing networks of ELAVL2, an RNA-binding protein with previously unknown function in the brain. Expression of ELAVL2 was reduced in human neurons and RNA-sequencing was utilized to identify networks of differentially expressed and alternatively spliced genes resulting from haploinsufficient levels of ELAVL2. These networks contain a number of autism-relevant genes as well as previously identified targets of other important RNA-binding proteins implicated in autism spectrum disorder including RBFOX1 and FMRP. ELAVL2-regulated co-expression networks are also enriched for neurodevelopmental and synaptic genes, and include genes with human-specific patterns of expression in the frontal pole. Together, these data suggest that ELAVL2 regulation of transcript expression is critical for neuronal function and clinically relevant to autism spectrum disorder.
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4. Boban S, Wong K, Epstein A, Anderson B, Murphy N, Downs J, Leonard H. {{Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype}}. {Am J Med Genet A};2016 (Jun 3)
Rett syndrome is a rare but severe neurological disorder associated with a mutation in the methyl CpG binding protein 2 (MECP2) gene. Sleep problems and epilepsy are two of many comorbidities associated with this disorder. This study investigated the prevalence and determinants of sleep problems in Rett syndrome using an international sample. Families with a child with a confirmed Rett syndrome diagnosis and a MECP2 mutation registered in the International Rett Syndrome Phenotype Database (InterRett) were invited to participate. Questionnaires were returned by 364/461 (78.9%) either in web-based or paper format. Families completed the Sleep Disturbance Scale for Children and provided information on the presence, nature, and frequency of their child’s sleep problems. Multivariate multinomial regression was used to investigate the relationships between selected sleep problems, age group, and genotype and linear regression for the relationships between sleep disturbance scales and a range of covariates. Night waking was the most prevalent sleep problem affecting over 80% with nearly half (48.3%) currently waking often at night. Initiating and maintaining sleep was most disturbed for younger children and those with a p.Arg294* mutation. Severe seizure activity was associated with poor sleep after adjusting for age group, mutation type, and mobility. We were surprised to find associations between the p.Arg294* mutation and some sleep disturbances given that other aspects of its phenotype are milder. These findings highlight the complexities of aberrant MECP2 function in Rett syndrome and explain some of the variation in manifestation of sleep disturbances. (c) 2016 Wiley Periodicals, Inc.
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5. Braddock BA, Gabany C, Shah M, Armbrecht ES, Twyman KA. {{Patterns of Gesture Use in Adolescents With Autism Spectrum Disorder}}. {Am J Speech Lang Pathol};2016 (Jun 3):1-8.
Purpose: The purpose of this study was to examine patterns of spontaneous gesture use in a sample of adolescents with autism spectrum disorder (ASD). Method: Thirty-five adolescents with ASD ages 11 to 16 years participated (mean age = 13.51 years; 29 boys, 6 girls). Participants’ spontaneous speech and gestures produced during a narrative task were later coded from videotape. Parents were also asked to complete questionnaires to quantify adolescents’ general communication ability and autism severity. Results: No significant subgroup differences were apparent between adolescents who did not gesture versus those who produced at least 1 gesture in general communication ability and autism severity. Subanalyses including only adolescents who produced gesture indicated a statistically significant negative association between gesture rate and general communication ability, specifically speech and syntax subscale scores. Adolescents who gestured produced higher proportions of iconic gestures and used gesture mostly to add information to speech. Conclusions: The findings relate spontaneous gesture use to underlying strengths and weaknesses in adolescents’ speech and syntactical language development. More research examining cospeech gesture in fluent speakers with ASD is needed.
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6. DuBois D, Ameis SH, Lai MC, Casanova MF, Desarkar P. {{Interoception in Autism Spectrum Disorder: A Review}}. {Int J Dev Neurosci};2016 (Jun 3)
PURPOSE: This review article summarizes original scientific research published to date on interoception in individuals with Autism Spectrum Disorder (ASD). Sensory processing has been shown to be atypical in ASD, yet physiological processing and subjective experience of internal sensation processing, namely interoception, has not been reported sufficiently in research or clinical settings. BACKGROUND: There is a small but growing body of scientific research on interoception in ASD, which is relevant to understanding the behavioral and cognitive characteristics inherent in this condition, and may provide a foundation for clinical interventions such as biofeedback, pain management, and brain stimulation techniques. METHODS: A literature review of original research was performed using major scientific databases. RESULTS: Interoception, which occurs due to multisensory connection and integration of internal afferents in cortical and subcortical areas, is atypical in ASD, but the degree and directionality of this abnormality is not yet clear due to the heterogeneity of the condition. Between-group interoceptive differences in individuals with and without ASD have been repeatedly demonstrated, with a slight tendency towards hyporeactivity in interoceptive awareness in individuals with ASD. SIGNIFICANCE: Multidimensional research combining neuroimaging with psychophysiological and self-report measures guided by a clear theoretical model is necessary to understand how interoceptive differences link to the behavioral and cognitive characteristics of ASD. Sensory processing models and autism theory should also be updated to incorporate these recent findings.
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7. Hacohen Y, Wright S, Gadian J, Vincent A, Lim M, Wassmer E, Lin JP. {{N-methyl-d-aspartate (NMDA) receptor antibodies encephalitis mimicking an autistic regression}}. {Dev Med Child Neurol};2016 (Jun 3)
Expressive dysphasia and mutism are common clinical features in children and adults with N-methyl-d-aspartate receptor antibodies (NMDAR-Ab) encephalitis, and are likely to result from NMDAR hypofunction. A prodromal loss of social and communication skills can typify that of an autistic regression, particularly when presenting under the age of 3 years. Here we describe two toddlers who presented with developmental regression, particularly of their social communication skills, mimicking an autistic regression, who were found to have NMDAR-Ab in the serum and cerebrospinal fluid. Although both patients had some other neurological features, they were subtle, which resulted in delayed diagnosis of NMDAR-Ab encephalitis. Importantly, immunotherapy was beneficial in both patients, with significant improvement of their language skills and behaviour.
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8. Kawamura A, Mylopoulos M, Orsino A, Jimenez E, McNaughton N. {{Promoting the Development of Adaptive Expertise: Exploring a Simulation Model for Sharing a Diagnosis of Autism With Parents}}. {Acad Med};2016 (May 31)
PURPOSE: To explore how a simulation model promoted the development of integrated competencies associated with adaptive expertise in senior health professions trainees as they learned to share a diagnosis of autism with parents. METHOD: A qualitative instrumental case study method was used at the University of Toronto in 2014 to explore what eight developmental pediatrics residents and two clinical psychology interns learned from participating in a simulation model designed to enable trainees to practice sharing a diagnosis of autism with parents. This model incorporated variability (three cases), active experimentation in a safe environment, and feedback from multiple perspectives (peers, faculty, standardized patients, and a parent). Field notes were collected, and semistructured interviews were conducted to explore what participants learned. Constant comparative analysis was used to identify themes iteratively. Team analysis continued until a stable thematic structure was developed and applied to the entire data set. RESULTS: Four themes were identified. Three themes described how participating in the simulation model changed residents’ and interns’ approaches to sharing a diagnosis of autism with parents from using a structured, scripted framework to share the diagnosis; to being flexible within the structured framework; and, finally, to being attentive and responsive to parents by adapting and creating new approaches for sharing the diagnosis. The fourth theme described how the multiple perspectives in the simulation model prompted learners to develop adaptive approaches. CONCLUSIONS: This simulation model helped residents and interns move beyond use of a structured, scripted communication framework toward development of adaptive expertise.
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9. Landa RJ, Haworth JL, Nebel MB. {{Ready, Set, Go! Low Anticipatory Response during a Dyadic Task in Infants at High Familial Risk for Autism}}. {Front Psychol};2016;7:721.
Children with autism spectrum disorder (ASD) demonstrate a host of motor impairments that may share a common developmental basis with ASD core symptoms. School-age children with ASD exhibit particular difficulty with hand-eye coordination and appear to be less sensitive to visual feedback during motor learning. Sensorimotor deficits are observable as early as 6 months of age in children who later develop ASD; yet the interplay of early motor, visual and social skill development in ASD is not well understood. Integration of visual input with motor output is vital for the formation of internal models of action. Such integration is necessary not only to master a wide range of motor skills, but also to imitate and interpret the actions of others. Thus, closer examination of the early development of visual-motor deficits is of critical importance to ASD. In the present study of infants at high risk (HR) and low risk (LR) for ASD, we examined visual-motor coupling, or action anticipation, during a dynamic, interactive ball-rolling activity. We hypothesized that, compared to LR infants, HR infants would display decreased anticipatory response (perception-guided predictive action) to the approaching ball. We also examined visual attention before and during ball rolling to determine whether attention engagement contributed to differences in anticipation. Results showed that LR and HR infants demonstrated context appropriate looking behavior, both before and during the ball’s trajectory toward them. However, HR infants were less likely to exhibit context appropriate anticipatory motor response to the approaching ball (moving their arm/hand to intercept the ball) than LR infants. This finding did not appear to be driven by differences in motor skill between risk groups at 6 months of age and was extended to show an atypical predictive relationship between anticipatory behavior at 6 months and preference for looking at faces compared to objects at age 14 months in the HR group.
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10. Limpitikul WB, Dick IE, Ben-Johny M, Yue DT. {{An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca(2+)-dependent regulation}}. {Sci Rep};2016;6:27235.
CaV1.3 channels are a major class of L-type Ca(2+) channels which contribute to the rhythmicity of the heart and brain. In the brain, these channels are vital for excitation-transcription coupling, synaptic plasticity, and neuronal firing. Moreover, disruption of CaV1.3 function has been associated with several neurological disorders. Here, we focus on the de novo missense mutation A760G which has been linked to autism spectrum disorder (ASD). To explore the role of this mutation in ASD pathogenesis, we examined the effects of A760G on CaV1.3 channel gating and regulation. Introduction of the mutation severely diminished the Ca(2+)-dependent inactivation (CDI) of CaV1.3 channels, an important feedback system required for Ca(2+) homeostasis. This reduction in CDI was observed in two major channel splice variants, though to different extents. Using an allosteric model of channel gating, we found that the underlying mechanism of CDI reduction is likely due to enhanced channel opening within the Ca(2+)-inactivated mode. Remarkably, the A760G mutation also caused an opposite increase in voltage-dependent inactivation (VDI), resulting in a multifaceted mechanism underlying ASD. When combined, these regulatory deficits appear to increase the intracellular Ca(2+) concentration, thus potentially disrupting neuronal development and synapse formation, ultimately leading to ASD.
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11. Lunsky Y. {{Book Review: Autism Spectrum Disorders in Adolescents and Adults: Evidence Based and Promising Interventions}}. {Can J Psychiatry};2016 (Apr);61(4):252.
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12. Mercado E, 3rd, Church BA, Seccia AM. {{Commentary: Perceptual learning in autism: over-specificity and possible remedies}}. {Front Integr Neurosci};2016;10:18.
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13. Mostafa GA, Bjorklund G, Urbina MA, Al-Ayadhi LY. {{The positive association between elevated blood lead levels and brain-specific autoantibodies in autistic children from low lead-polluted areas}}. {Metab Brain Dis};2016 (Jun 1)
The underlying pathogenic mechanism in autoimmune disorders is the formation of autoantibodies. In children with autism spectrum disorder (ASD), it has been documented increased levels of brain-specific autoantibodies. Furthermore, lead (Pb) has been identified as one of the main neurotoxicants acting as environmental triggers for ASD as it induces neuroinflammation and autoimmunity. The present study is the first to explore a potential relationship between the levels of blood lead (BPb) and seropositivity of anti-ribosomal P protein antibodies in ASD children. Levels of BPb and serum anti-ribosomal P protein antibodies were measured in 60 children with ASD and 60 healthy control matched children, aged between 5 and 12 years, recruited from low Pb-polluted areas. The levels of BPb were significantly higher in ASD children than in healthy control children (P < 0.001). Patients with ASD had significantly higher frequency of increased BPb levels >/=10 mug/dL (43.3 %) than healthy control children (13.3 %; P < 0.001). There were significant and positive correlations between the levels of BPb, and the values of Childhood Autism Rating Scale (CARS) (P < 0.01) and IQ in children with ASD (P < 0.001). Patients with ASD showing increased levels of BPb had significantly higher frequency of seropositivity of anti-ribosomal P antibodies (92.3 %) than patients with normal BPb levels (32.3 %; P < 0.001). The findings of the present study suggest that increased levels of BPb in some children with ASD may trigger the production of serum anti-ribosomal P antibodies. Further research is warranted to determine if the production of brain autoantibodies is triggered by environmental Pb exposure in children with ASD. The possible therapeutic role of Pb chelators in ASD children should also be studied. Lien vers le texte intégral (Open Access ou abonnement)
14. Olivito G, Clausi S, Laghi F, Tedesco AM, Baiocco R, Mastropasqua C, Molinari M, Cercignani M, Bozzali M, Leggio M. {{Resting-State Functional Connectivity Changes Between Dentate Nucleus and Cortical Social Brain Regions in Autism Spectrum Disorders}}. {Cerebellum};2016 (Jun 1)
Autism spectrum disorders (ASDs) are known to be characterized by restricted and repetitive behaviors and interests and by impairments in social communication and interactions mainly including « theory of mind » (ToM) processes. The cerebellum has emerged as one of the brain regions affected by ASDs. As the cerebellum is known to influence cerebral cortex activity via cerebello-thalamo-cortical (CTC) circuits, it has been proposed that cerebello-cortical « disconnection » could in part underlie autistic symptoms. We used resting-state (RS) functional magnetic resonance imaging (fMRI) to investigate the potential RS connectivity changes between the cerebellar dentate nucleus (DN) and the CTC circuit targets, that may contribute to ASD pathophysiology. When comparing ASD patients to controls, we found decreased connectivity between the left DN and cerebral regions known to be components of the ToM network and the default mode network, implicated in specific aspects of mentalizing, social cognition processing, and higher order emotional processes. Further, a pattern of overconnectivity was also detected between the left DN and the supramodal cerebellar lobules associated with the default mode network. The presented RS-fMRI data provide evidence that functional connectivity (FC) between the dentate nucleus and the cerebral cortex is altered in ASD patients. This suggests that the dysfunction reported within the cerebral cortical network, typically related to social features of ASDs, may be at least partially related to an impaired interaction between cerebellum and key cortical social brain regions.
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15. Shah P, Hall R, Catmur C, Bird G. {{Alexithymia, not autism, is associated with impaired interoception}}. {Cortex};2016 (Apr 5);81:215-220.
It has been proposed that Autism Spectrum Disorder (ASD) is associated with difficulties perceiving the internal state of one’s body (i.e., impaired interoception), causing the socio-emotional deficits which are a diagnostic feature of the condition. However, research indicates that alexithymia – characterized by difficulties in recognizing emotions from internal bodily sensations – is also linked to atypical interoception. Elevated rates of alexithymia in the autistic population have been shown to underpin several socio-emotional impairments thought to be symptomatic of ASD, raising the possibility that interoceptive difficulties in ASD are also due to co-occurring alexithymia. Following this line of inquiry, the present study examined the relative impact of alexithymia and autism on interoceptive accuracy (IA). Across two experiments, it was found that alexithymia, not autism, was associated with atypical interoception. Results indicate that interoceptive impairments should not be considered a feature of ASD, but instead due to co-occurring alexithymia.
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16. Simonstein F, Mashiach-Eizenberg M. {{Attitudes Toward Autism Spectrum Disorders Among Students of Allied Health Professions}}. {J Genet Couns};2016 (Jun 2)
The prevalence of autism has increased dramatically. The objectives of this study were to explore attitudes toward prenatal diagnosis to detect autism prenatally and avoid having an affected child and to understand social acceptability of these disorders among students of allied health professions. In this study, college students of nursing and health systems management answered a structured self-report questionnaire (n = 305). The first part addressed the respondent’s personal data. The second part targeted the respondent’s attitudes toward prenatal diagnosis of non-life-threatening disorders, including autism spectrum disorders. We found that almost two thirds of the students responded that they would not proceed with a pregnancy if the child were diagnosed with autism, and more than half thought that they would not continue with a pregnancy if the fetus were diagnosed with Asperger’s. Age, level of religiosity, and years of education were influential. This study is limited in scope; however, the positive attitude of the students toward prenatal diagnosis to avoid having an affected child might also reflect a negative view of autism spectrum disorders in future health care professionals. Further research of attitudes and the social acceptability of autism spectrum disorders, particularly among health care professionals, is required.
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17. Yang EJ, Ahn S, Lee K, Mahmood U, Kim HS. {{Correction: Early Behavioral Abnormalities and Perinatal Alterations of PTEN/AKT Pathway in Valproic Acid Autism Model Mice}}. {PLoS One};2016;11(6):e0157202.
[This corrects the article DOI: 10.1371/journal.pone.0153298.].
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18. Zheng Z, Zhang L, Zhu T, Huang J, Qu Y, Mu D. {{Association between Asthma and Autism Spectrum Disorder: A Meta-Analysis}}. {PLoS One};2016;11(6):e0156662.
OBJECTIVE: We conducted a meta-analysis to summarize the evidence from epidemiological studies of the association between asthma and autism spectrum disorder (ASD). METHODS: A literature search was conducted using PubMed, Embase, and Cochrane library for studies published before February 2nd, 2016. Observational studies investigating the association between asthma and ASD were included. A random effects model was used to calculate the pooled risk estimates for the outcome. Subgroup analysis was used to explore potential sources of heterogeneity and publication bias was estimated using Begg’s and Egger’s tests. RESULTS: Ten studies encompassing 175,406 participants and 8,809 cases of ASD were included in this meta-analysis. In the cross-sectional studies, the prevalence of asthma in ASD was 20.4%, while the prevalence of asthma in controls was 15.4% (P < 0.001). The pooled odds ratio (OR) for the prevalence of asthma in ASD in the cross-sectional studies was 1.26 (95% confidence interval (CI): 0.98-1.61) (P = 0.07), with moderate heterogeneity (I2 = 65.0%, P = 0.02) across studies. In the case-control studies, the pooled OR for the prevalence of asthma in ASD was 0.98 (95% CI: 0.68-1.43) (P = 0.94), and there was no evidence of an association between asthma and ASD. No evidence of significant publication bias on the association between asthma and ASD was found. CONCLUSIONS: In conclusion, the results of this meta-analysis do not suggest an association between asthma and ASD. Further prospective studies ascertaining the association between asthma and ASD are warranted. Lien vers le texte intégral (Open Access ou abonnement)
