Pubmed du 21/10/18

dimanche 21 octobre 2018

1. Adams D, Simpson K, Keen D. School-related anxiety symptomatology in a community sample of primary-school-aged children on the autism spectrum. Journal of school psychology. 2018 ; 70 : 64-73.

Although it is recognized that the prevalence of anxiety is elevated in children with autism spectrum disorder, there has been very limited research exploring such anxiety in school contexts. As a result, there is limited detailed information for teachers or educators on how anxiety in autism may present in the school setting for children on the autism spectrum. The aims of this study were to (a) report the profile of results on a measure of school anxiety in a community sample of children on the autism spectrum, (b) investigate whether scores on this measure differed with child variables or enrollment into a mainstream or special school, and (c) document the level of agreement between teacher-reported and parent-reported anxiety symptoms. Teachers of 92 children aged 5-12 completed a questionnaire pack including the School Anxiety Scale-Teacher Rating (SAS-TR). Elevated levels of anxiety (above the SAS-TR total anxiety clinical cut-off) were noted in 21.7% of the sample, with a larger proportion of children scoring above the generalized anxiety cut-off (27.2%) than the social anxiety cut-off (14.1%). Older participants (U=744, p=.02, eta(2)=0.06) and those attending mainstream schools (U=661, p=.02, eta(2)=0.06) had significantly higher scores on the generalized, but not the social, anxiety subscales, with effect sizes suggesting a medium effect. The results highlight the need for further, more detailed research into the presentation and impact of school anxiety in children with autism attending both mainstream and special schools.

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2. Bradford EEF, Hukker V, Smith L, Ferguson HJ. Belief-attribution in adults with and without autistic spectrum disorders. Autism research : official journal of the International Society for Autism Research. 2018.

An important aspect of daily life is the ability to infer information about the contents of other people’s minds, such as what they can see and what they know, in order to engage in successful interactions. This is referred to as possession of a "Theory of Mind" (ToM). Past research has shown that adults with Autistic Spectrum Disorders (ASD) often show deficits in social communication abilities, although can successfully pass tests of explicit ToM. The current study utilized a computerized false-belief task to explore subtle differences (i.e., measuring response times and accuracy rates) in how efficiently ToM capacities-specifically, belief-attribution-are utilized in adults with and without ASD. In the task, participants were asked to attribute a belief-state to either themselves or another person, following establishment of a true or false-belief scenario. Results revealed comparable patterns of ToM engagement across individuals with and without ASD, with faster and more accurate responses to "Self" versus "Other" oriented questions, and slower response times when shifting between the "Self" and "Other" perspective compared to when maintaining a perspective. However, autistic individuals showed a particular deficit in correctly identifying a belief-state in false-belief trials, in which two contrasting belief-states had to be held in mind, suggesting more difficulty disengaging from current, reality based belief-states than neuro-typical individuals. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : To successfully communicate, we have to think about what other people do/do not know ; this is called having a "Theory of Mind." This study looked at how well people use their Theory of Mind when thinking about the contents of people’s minds. Results showed that people with autism had difficulties considering more than one mental state at a time, suggesting they may have more trouble in stopping themselves thinking about what is happening in reality than people without autism.

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3. Capal JK, Carosella C, Corbin E, Horn PS, Caine R, Manning-Courtney P. EEG endophenotypes in autism spectrum disorder. Epilepsy & behavior : E&B. 2018.

OBJECTIVES : The association between autism spectrum disorder (ASD) and epilepsy is well-known. Abnormalities on electroencephalography (EEG) results have been reported in patients with ASD without a history of seizures. However, little is known about the relationship between abnormalities on EEG results and the core features of ASD. The purpose of the study was to determine the relationship between the presence of epilepsy and/or abnormalities on EEG results and disease-associated impairments in young children with ASD. METHODS : Data were collected from medical records at Cincinnati Children’s Hospital Medical Center (CCHMC) of patients with well-characterized ASD. Patients were subdivided into three groups : ASD without epilepsy but with abnormal EEG results, ASD without epilepsy and normal EEG results, and ASD with epilepsy. Developmental (Mullen Scales of Early Learning (MSEL)), adaptive (Vineland Adaptive Behavior Scales (VABS)), behavioral (Child Behavior Checklist), and language (Preschool Language Scales (PLS)) assessments, along with birth and developmental histories, medications, and medical comorbidities were collected. Electroencephalography data were abstracted from reports and included presence, characterization, and location of abnormalities. RESULTS : Analysis was performed on 443 patients with ASD. Seventy patients (15.8%) had epilepsy at the time of ASD diagnosis. Out of 372 patients with ASD and no epilepsy, 95 (25.5%) had an abnormal EEG result (67.4% epileptiform, 36.8% other abnormalities). Majority of epileptiform discharges were focal (83%) and most commonly seen in the left temporal region. The group with abnormal EEG results exhibited more impaired adaptive functioning when compared with the group with normal EEG results (p<0.05). The group with abnormal EEG results was more similar to the group with epilepsy, differing only in expressive language (p<0.01) and fine motor (p<0.05) skills on the Mullen Scales. The group with epilepsy exhibited lower scores in all areas of developmental and adaptive functioning compared with the group with normal EEG results (p<0.05). At the time of analysis, 13 patients (8 in the group with abnormal EEG results, 5 in the group with normal EEG results) developed epilepsy at a mean age of 10.5years+/-3.3years. CONCLUSIONS : The presence of an abnormal EEG result or epilepsy in the setting of ASD suggests worse developmental and adaptive functioning. Further analysis will help to clarify associations and offer insight into treatment for this subpopulation without epilepsy but with abnormal EEG results.

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4. Cartocci V, Tonini C, Di Pippo T, Vuono F, Schiavi S, Marino M, Trezza V, Pallottini V. Prenatal exposure to valproate induces sex-, age-, and tissue-dependent alterations of cholesterol metabolism : Potential implications on autism. Journal of cellular physiology. 2018.

Here, we investigated the protein network regulating cholesterol metabolism in the liver and brain of adolescent and adult male and female rats prenatally exposed to valproate (VPA), a well validated experimental model of autism spectrum disorders (ASD). We were aimed at studying whether prenatal VPA exposure affected the proteins involved in cholesterol homeostasis in a sex-dependent manner. To this aim the protein network of cholesterol metabolism, in term of synthesis and plasma membrane trafficking, was analyzed by western blot in the liver and different brain areas (amygdala, cerebellum, cortex, hippocampus, nucleus accumbens, and dorsal striatum) of adolescent and adult male and female rats prenatally exposed to VPA. Our results show that physiological sex-dependent differences are present both in the liver and in brain of rats. Interestingly, VPA affects specifically the brain in an age- and region-specific manner ; indeed, cerebellum, cortex, hippocampus and nucleus accumbens are affected in a sex-dependent way, while this does not occur in amygdala and dorsal striatum. Overall, we demonstrate that each brain area responds differently to the same external stimulus and males and females respond in a different way, suggesting that this could be related to the diverse incidences, between the sexes, of some neurodevelopmental pathologies such as autism, which displays a 3:1 male to female ratio.

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5. Esse Wilson J, Trumbo MC, Wilson JK, Tesche CD. Transcranial direct current stimulation (tDCS) over right temporoparietal junction (rTPJ) for social cognition and social skills in adults with autism spectrum disorder (ASD). Journal of neural transmission (Vienna, Austria : 1996). 2018.

Social deficits are core to autism spectrum disorder (ASD). Current treatments are extremely time- and labor-intensive. Transcranial direct current stimulation (tDCS) may be a promising treatment modality to safely enhance treatments targeting social cognition and social skills. This pilot study investigates the effectiveness of social skills treatment interventions paired with anodal tDCS for six adults 18-58 years with ASD. Differences were predicted on the verbal fluency (VF) test and a test of social skills (TASSK-M) for verum (2.0 mA) vs. sham tDCS, which was randomly assigned in a within-subjects, double-blinded design in adults with ASD with normal or higher cognitive functioning. The anode electrode was placed over right temporoparietal (CP6) and cathode over ipsilateral deltoid. Wilcoxon signed-rank tests for paired data indicated that participants received a significantly higher score on the VF test after receiving verum tDCS compared to sham tDCS, with no significant differences found on the TASSK-M. Post-hoc analysis showed that the emotion-word portion of the VF test, specifically, indicated significant differences when comparing verum to sham tDCS conditions. These findings provide optimism for the use of tDCS as delivered in the current study paired with social skills treatment interventions for ASD, particularly for improving skills of emotion verbal fluency.

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6. Esteban-Figuerola P, Canals J, Fernandez-Cao JC, Arija Val V. Differences in food consumption and nutritional intake between children with autism spectrum disorders and typically developing children : A meta-analysis. Autism : the international journal of research and practice. 2018 : 1362361318794179.

Children with autism spectrum disorders show higher food selectivity, which restricts consumption of some foods and may cause nutritional deficiencies. The aims of this meta-analysis are to determine the overall differences in nutritional intake and food consumption between children with autism spectrum disorder and control (typical development) children, as well as determine the extent to which the nutritional intake and food consumption of autistic children comply with the dietary recommendations. Children with autism spectrum disorder consume less protein (standardized mean difference = -0.27, 95% confidence interval (-0.45, -0.08)), calcium (-0.56 (-0.95, -0.16)), phosphorus (-0.23 (-0.41, -0.04)), selenium (-0.29 (-0.44, -0.13)), vitamin D (-0.34 (-0.57, -0.11)), thiamine (-0.17 (-0.29, -0.05)), riboflavin (-0.25 (-0.45, -0.05)) and vitamin B12 (-0.52 (-0.95, -0.09)) and more polyunsaturated fat acid (0.27 (0.11, 0.44)) and vitamin E (0.28 (0.03, 0.54)) than controls. Autistic children also consume less omega-3 (-0.83 (-1.53, -0.16)) and more fruit (0.35 (0.12, 0.59)) and vegetables (0.35 (0.09, 0.61)) than control children ; however, these results must be considered with care due to the low number of studies included in the analysis and the high heterogeneity. The results also suggest a lower intake of calcium, vitamin D and dairy and a higher intake of fruit, vegetables, protein, phosphorus, selenium, thiamine, riboflavin and vitamin B12 than recommended.

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7. Keogh C, Pini G, Dyer AH, Bigoni S, DiMarco P, Gemo I, Reilly R, Tropea D. Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles. BMC pediatrics. 2018 ; 18(1) : 333.

BACKGROUND : Rett Syndrome (RTT) is a complex neurodevelopmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld and PSV(Preserved Speech Variant)), the link between causative mutations and observed clinical phenotypes remains unclear. Quantitative analysis of electroencephalogram (EEG) recordings may further elucidate important differences between the different clinical and genetic forms of RTT. METHODS : Using a large cohort (n = 42) of RTT patients, we analysed the electrophysiological profiles of RTT variants (genetic and clinical) in addition to epilepsy status (no epilepsy/treatment-responsive epilepsy/treatment-resistant epilepsy). The distribution of spectral power and inter-electrode coherence measures were derived from continuous resting-state EEG recordings. RESULTS : RTT genetic variants (MeCP2/CDLK5) were characterised by significant differences in network architecture on comparing first principal components of inter-electrode coherence across all frequency bands (p < 0.0001). Greater coherence in occipital and temporal pairs were seen in MeCP2 vs CDLK5 variants, the main drivers in between group differences. Similarly, clinical phenotypes (Classical RTT/Hanefeld/PSV) demonstrated significant differences in network architecture (p < 0.0001). Right tempero-parietal connectivity was found to differ between groups (p = 0.04), with greatest coherence in the Classical RTT phenotype. PSV demonstrated a significant difference in left-sided parieto-occipital coherence (p = 0.026). Whilst overall power decreased over time, there were no difference in asymmetry and inter-electrode coherence profiles over time. There was a significant difference in asymmetry in the overall power spectra between epilepsy groups (p = 0.04) in addition to occipital asymmetry across all frequency bands. Significant differences in network architecture were also seen across epilepsy groups (p = 0.044). CONCLUSIONS : Genetic and clinical variants of RTT are characterised by discrete patterns of inter-electrode coherence and network architecture which remain stable over time. Further, hemispheric distribution of spectral power and measures of network dysfunction are associated with epilepsy status and treatment responsiveness. These findings support the role of discrete EEG profiles as non-invasive biomarkers in RTT and its genetic/clinical variants.

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8. Stephens RL, Watson LR, Crais ER, Reznick JS. Infant quantitative risk for autism spectrum disorder predicts executive function in early childhood. Autism research : official journal of the International Society for Autism Research. 2018.

Much of the current research concerning autism spectrum disorder (ASD) focuses on early identification of behaviors that may indicate future deficits or higher risk for a later diagnosis. Additionally, there exists a strong claim regarding the dimensional nature of ASD, such that even among non-diagnosed individuals, a continuous distribution of symptom severity can be observed. Executive function (EF) has been widely studied in children, adolescents, and adults with ASD, with a robust body of research supporting widespread EF deficits in diagnosed individuals. However, it remains unclear how the degree of ASD symptomatology, outside of the presence of a diagnosis, affects EF abilities in a community sample. The First Year Inventory 2.0 (FYI 2.0), a parent-report measure, was designed to identify infants at 12 months who are at risk for an eventual ASD diagnosis. In the current study, a continuous scoring scale was used to examine risk (overall, Social-Communication, and Sensory-Regulatory) from a dimensional perspective. Parents also completed the Behavior Rating Inventory of Executive Function-Preschool Version and the Social Responsiveness Scale-2nd edition when their children were 42 months (3.5 years) old. Each FYI 2.0 risk variable significantly predicted scores on an overall EF composite and specific EF subscales. When controlling for general ASD symptomatology, Sensory-Regulatory risk still significantly predicted EF deficits. This research provides additional support for a quantitative consideration of risk for ASD and presents novel findings regarding the relation between infant behaviors indicative of ASD risk and EF in early childhood. Autism Research 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Children with autism spectrum disorder (ASD) often have difficulty with executive function (EF) tasks that require a set of mental processes involved in goal-directed behaviors. Studying children without ASD who may have symptoms affecting EF is also important. This study demonstrates that certain infant behaviors related to ASD are linked to early childhood EF difficulties. These results support looking at a range of ASD symptoms to better understand children who struggle with EF and potentially design tools to help them.

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9. Townend GS, van de Berg R, de Breet LHM, Hiemstra M, Wagter L, Smeets E, Widdershoven J, Kingma H, Curfs LMG. Oculomotor Function in Individuals With Rett Syndrome. Pediatric neurology. 2018.

BACKGROUND : Individuals with Rett syndrome (RTT) are notoriously reliant on the use of eye gaze as a primary means of communication. Underlying an ability to communicate successfully via eye gaze is a complex matrix of requirements, with an intact oculomotor system being just one element. To date, the underlying neural and motor pathways associated with eye gaze are relatively under-researched in RTT. PURPOSE : This study was undertaken to plug this gap in knowledge and to further the understanding of RTT in one specific area of development and function, namely oculomotor function. MATERIAL AND METHODS : The eye movements of 18 girls and young women with RTT were assessed by electronystagmography (ENG). This tested their horizontal saccadic and smooth pursuit eye movements as well as optokinetic nystagmus and vestibulo-ocular reflex. Their results were compared with normative data collected from 16 typically developing children and teenagers. RESULTS : Overall, the individuals with RTT demonstrated a range of eye movements on a par with their typically developing peers. However, there were a number of difficulties in executing the ENG testing with the RTT cohort which made quantitative analysis tricky, such as reduced motivation and attention to test materials and low-quality electrode signals. CONCLUSIONS : This study suggests that individuals with RTT have an intact oculomotor system. However, modifications should be made to the ENG assessment procedure to combat problems in testing and add strength to the results. Further investigation into these testing difficulties is warranted in order to inform such modifications.

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