Pubmed du 06/01/19

dimanche 6 janvier 2019

1. Duvall SW, Lindly O, Zuckerman K, Msall ME, Weddle M. Ethical Implications for Providers Regarding Cannabis Use in Children With Autism Spectrum Disorders. Pediatrics. 2019.

Children with autism spectrum disorder (ASD) are at risk for self-injurious behaviors that can be difficult to treat in the context of co-occurring low IQ and adaptive skills. Increased prevalence and decriminalization of cannabis in some states have led to more frequent questions for pediatricians about the use of cannabis for difficult-to-treat developmental and behavioral conditions. What do we know about the possible benefits and risks of cannabis use in children with ASD ? How should the clinician respond to a parent who expresses interest in cannabis to manage behavior in a child with ASD ? Ethical analysis that includes harm reduction, health concerns, and information sharing will be discussed. We present commentary on the ethical implications of cannabis use in children with ASD and severe self-harm behaviors.

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2. Kaku SM, Jayashankar A, Girimaji SC, Bansal S, Gohel S, Bharath RD, Srinath S. Early childhood network alterations in severe autism. Asian J Psychiatr. 2018 ; 39 : 114-9.

OBJECTIVE : To examine the differences in whole brain topology and connectivity in 17 children of the ages 3-8 years across severity of ASD, we performed resting state fMRI using a 3T MRI scanner and graph theoretical analysis of networks. METHOD : Patients were partitioned into two cohorts based on the severity of ASD, determined using the Childhood Autism Rating Scale (CARS) scores (Mild, 30-36 ; Severe, 37+). Standard preprocessing pipeline was used, followed by independent component analysis (ICA) to identify regions of interest (ROIs) to construct subject-specific Z-correlation matrices representing the whole brain network. Following which, graph theory measures were calculated in the range of sparsity 6%-35% and statistically analyzed, and corrected for significance (FDR corrected, p < 0.05). Regional clustering coefficient that revealed significant between-group (mild vs. severe) differences were correlated against clinical scores (CARS). RESULTS : Children with severe ASD revealed significantly increased clustering coefficient and small-worldness compared to those with mild or moderate ASD. Region of interest analysis revealed altered clustering in the Heschl’s gyrus that significantly correlated with CARS scores. CONCLUSION : The findings from the current study provide early stage evidence of aberrant brain connectivity appearing in severe ASD, prior to the effect of environmental bias and pruning mechanisms. The clustering of the Heschl’s gyrus correlated to the severity of ASD symptoms and agrees with current literature on ASD-associated cortical changes, reflecting early changes to language processing regions.

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3. Metcalfe D, McKenzie K, McCarty K, Pollet TV. Emotion recognition from body movement and gesture in children with Autism Spectrum Disorder is improved by situational cues. Res Dev Disabil. 2019 ; 86 : 1-10.

BACKGROUND : Research shows people with Autism Spectrum Disorder (ASD) have poorer emotion recognition (ER) compared to their typically developing (TD) peers. However, it is not known whether this is the case when stimuli are limited to gesture and posture, and lack facial expressions. METHOD : Fifty-four children with (n = 27) and without (n = 27) ASD, matched on age and gender, completed an ER task, that used dynamic stimuli. Processing style bias, Autistic-like-traits and empathy were also measured. With ER as the outcome variable, a multilevel logistic model was created. RESULTS : Children with ASD were found to be significantly less accurate in identifying emotions, compared to the control group. Presence of situational cues aided both groups. Autistic-like-traits and empathy were found to correlate too highly with the diagnosed condition to use in the multilevel model. Processing style did not significantly impact ER ability. CONCLUSIONS : This study supports previous research which finds ER ability in people with ASD to be poorer than that of TD peers and that situational cues can aid ER ability. Importantly, the latter is true for people with ASD. The implication of these findings are programmes that aim to improve ER should consider using cues. Limitations of the study are discussed.

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4. Milovanovic M, Radivojevic V, Radosavljev-Kircanski J, Grujicic R, Toskovic O, Aleksic-Hil O, Pejovic-Milovancevic M. Epilepsy and interictal epileptiform activity in patients with autism spectrum disorders. Epilepsy Behav. 2019 ; 92 : 45-52.

PURPOSE : The purpose of this study was to determine the prevalence of epilepsy and subclinical epileptiform abnormalities in children with autism spectrum disorder (ASD), and to investigate its effects on core autistic symptoms and adaptive behavior skills. METHODS : Patients with diagnosis of ASD who met full criteria on Autism Diagnostic Interview-Revised (ADI-R) were included in the study. Adaptive behavior skills were assessed by Vineland Adaptive Behavior Scale-II (VABS-II). Clinical assessment for epilepsy and video electroencephalography (EEG) (v-EEG) examinations during wakefulness and/or sleep were prospectively performed in all patients. RESULTS : A total of 112 patients with diagnosis of ASD of mean age 6.58+/-3.72 were included in the study. Based on clinical and v-EEG assessments, three groups of patients were defined : 1) patients with epilepsy (n=17 ; 15.2%) ; 2) patients with epileptiform discharges in absence of clinical seizures (n=14 ; 12.5%) ; 3) patients without epilepsy and without epileptiform discharges (n=81 ; 72.3%). There were no significant differences between three groups of patients on ADI-R subscores. Speech development was also not significantly related to epilepsy. There was a slight tendency of the VABS-II motor skills score to be higher in the group of patients with autism without clinical diagnosis of epilepsy and without subclinical epileptiform discharges (p<0.05) in comparison with the two other groups. According to this tendency, we might claim that patients with higher scores on motor skills could have 0.88 times lower odds for having epileptiform EEG activity. CONCLUSIONS : According to our results, we were not able to detect differences in the ADI-R between the three populations with ASD, all with unknown etiology. Epilepsy, as well as subclinical epileptic discharges, showed small effects on Motor Skills in patients with autism, and had no effect on adaptive behavior Communication/Socialization/Daily Living Skills.

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5. Okoniewski KC, Wheeler AC, Lee S, Boyea B, Raspa M, Taylor JL, Bailey DB, Jr. Early Identification of Fragile X Syndrome through Expanded Newborn Screening. Brain Sci. 2019 ; 9(1).

Over the past 20 years, research on fragile X syndrome (FXS) has provided foundational understanding of the complex experiences of affected individuals and their families. Despite this intensive focus, there has been little progress on earlier identification, with the average age of diagnosis being 3 years. For intervention and treatment approaches to have the greatest impact, they need to begin shortly after birth. To access this critical timespan, differential methods of earlier identification need to be considered, with an emerging focus on newborn screening practices. Currently, barriers exist that prevent the inclusion of FXS on standard newborn screening panels. To address these barriers, an innovative program is being implemented in North Carolina to offer voluntary screening for FXS under a research protocol, called Early Check. This program addresses the difficulties observed in prior pilot studies, such as recruitment, enrollment, lab testing, and follow-up. Early Check provides an opportunity for stakeholders and the research community to continue to gain valuable information about the feasibility and greater impact of newborn screening on the FXS population.

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6. Schaller UM, Biscaldi M, Fangmeier T, Tebartz van Elst L, Rauh R. Intuitive Moral Reasoning in High-Functioning Autism Spectrum Disorder : A Matter of Social Schemas ?. J Autism Dev Disord. 2019.

Using a schema-theoretical perspective in the field of moral cognition, we assessed response behavior of adolescent (n = 15) and adult (n = 22) individuals with Autism Spectrum Disorder (ASD) in comparison with adolescent (n = 22) and adult (n = 22) neurotypically developed controls. We conceptualized the Intuitive Moral Reasoning Test-in five moral dilemmas, participants had to choose between two alternative actions and assess their decision with respect to emotional valence, arousal, moral acceptability and permissibility from both the perspective of the acting person and then of the victim. Patients with ASD displayed a different decision and response behavior, particularly when the dilemmas were based on extreme life situations in combination with a social schema involving close social relationships.

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7. Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL, Jr., Zoghbi HY. An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2019.

Genome sequencing has revealed an increasing number of genetic variations that are associated with neuropsychiatric disorders. Frequently, studies limit their focus to likely gene-disrupting mutations because they are relatively easy to interpret. Missense variants, instead, have often been undervalued. However, some missense variants can be informative for developing a more profound understanding of disease pathogenesis and ultimately targeted therapies. Here we present an example of this by studying a missense variant in a well-known autism spectrum disorder (ASD) causing gene SHANK3. We analyzed Shank3’s in vivo phosphorylation profile and identified S685 as one phosphorylation site where one ASD-linked variant has been reported. Detailed analysis of this variant revealed a novel function of Shank3 in recruiting Abelson interactor 1 (ABI1) and the WAVE complex to the post-synaptic density (PSD), which is critical for synapse and dendritic spine development. This function was found to be independent of Shank3’s other functions such as binding to GKAP and Homer. Introduction of this human ASD mutation into mice resulted in a small subset of phenotypes seen previously in constitutive Shank3 knockout mice, including increased allogrooming, increased social dominance, and reduced pup USV. Together, these findings demonstrate the modularity of Shank3 function in vivo. This modularity further indicates that there is more than one independent pathogenic pathway downstream of Shank3 and correcting a single downstream pathway is unlikely to be sufficient for clear clinical improvement. In addition, this study illustrates the value of deep biological analysis of select missense mutations in elucidating the pathogenesis of neuropsychiatric phenotypes.

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8. Wang Z, Zhang J, Lu T, Zhang T, Jia M, Ruan Y, Zhang D, Li J, Wang L. Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population. Prog Neuropsychopharmacol Biol Psychiatry. 2019.

Autism is a complex neurodevelopmental disorder with high heritability. Previous genome-wide association studies (GWAS) demonstrated that some single-nucleotide polymorphisms (SNPs) were significantly associated with autism, while other studies focusing on these GWAS hits showed inconsistent results. Besides, the association between these variants and autism in the Chinese Han population remains unclear. Therefore, this family-based association study was performed in 640 Chinese Han autism trios to investigate the association between autism and 7 SNPs with genome-wide significance in previous GWAS (rs4307059 near MSNP1AS, rs4141463 in MACROD2, rs2535629 in ITIH3, rs11191454 in AS3MT, rs1625579 in MIR137HG, rs11191580 in NT5C2, and rs1409313 in CUEDC2). The results showed a nominal association between the T allele of rs4307059 and autism under both additive model (T>C, Z=2.250, P=.024) and recessive model (T>C, Z=2.109, P=.035). The findings provided evidence that rs4307059 near MSNP1AS might be a susceptibility variant for autism in the Chinese Han population.

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