Pubmed du 04/07/17

mardi 4 juillet 2017

1. Allemang-Grand R, Ellegood J, Spencer Noakes L, Ruston J, Justice M, Nieman BJ, Lerch JP. Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes. Mol Autism. 2017 ; 8 : 32.

BACKGROUND : Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. The majority of RTT cases are caused by de novo mutations in methyl-CpG-binding protein 2 (MECP2), and several mouse models have been created to further understand the disorder. In the current literature, many studies have focused their analyses on the behavioral abnormalities and cellular and molecular impairments that arise from Mecp2 mutations. However, limited efforts have been placed on understanding how Mecp2 mutations disrupt the neuroanatomy and networks of the brain. METHODS : In this study, we examined the neuroanatomy of male and female mice from the Mecp2tm1Hzo, Mecp2tm1.1Bird/J, and Mecp2tm2Bird/J mouse lines using high-resolution magnetic resonance imaging (MRI) paired with deformation-based morphometry to determine the brain regions susceptible to Mecp2 disruptions. RESULTS : We found that many cortical and subcortical regions were reduced in volume within the brains of mutant mice regardless of mutation type, highlighting regions that are susceptible to Mecp2 disruptions. We also found that the volume within these regions correlated with behavioral metrics. Conversely, regions of the cerebellum were differentially affected by the type of mutation, showing an increase in volume in the mutant Mecp2tm1Hzo brain relative to controls and a decrease in the Mecp2tm1.1Bird/J and Mecp2tm2Bird/J lines. CONCLUSIONS : Our findings demonstrate that the direction and magnitude of the neuroanatomical differences between control and mutant mice carrying Mecp2 mutations are driven by the severity of the mutation and the stage of behavioral impairments.

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2. Brigida AL, Schultz S, Cascone M, Antonucci N, Siniscalco D. Endocannabinod Signal Dysregulation in Autism Spectrum Disorders : A Correlation Link between Inflammatory State and Neuro-Immune Alterations. Int J Mol Sci. 2017 ; 18(7).

Several studies highlight a key involvement of endocannabinoid (EC) system in autism pathophysiology. The EC system is a complex network of lipid signaling pathways comprised of arachidonic acid-derived compounds (anandamide, AEA) and 2-arachidonoyl glycerol (2-AG), their G-protein-coupled receptors (cannabinoid receptors CB1 and CB2) and the associated enzymes. In addition to autism, the EC system is also involved in several other psychiatric disorders (i.e., anxiety, major depression, bipolar disorder and schizophrenia). This system is a key regulator of metabolic and cellular pathways involved in autism, such as food intake, energy metabolism and immune system control. Early studies in autism animal models have demonstrated alterations in the brain’s EC system. Autism is also characterized by immune system dysregulation. This alteration includes differential monocyte and macrophage responses, and abnormal cytokine and T cell levels. EC system dysfunction in a monocyte and macrophagic cellular model of autism has been demonstrated by showing that the mRNA and protein for CB2 receptor and EC enzymes were significantly dysregulated, further indicating the involvement of the EC system in autism-associated immunological disruptions. Taken together, these new findings offer a novel perspective in autism research and indicate that the EC system could represent a novel target option for autism pharmacotherapy.

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3. Delaney KR. Restoring EEAqualibrium : rebalancing excitation and inhibition in Rett mouse model neurons with early endosome antigen-1. J Physiol. 2017.

Rett syndrome is a neurological disorder resulting from loss of function of MECP2, an X-linked transcription factor, which controls expression of hundreds of genes involved in synapse formation and development by binding primarily to methylated DNA. This article is protected by copyright. All rights reserved.

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4. Lamanna AL, Craig F, Matera E, Simone M, Buttiglione M, Margari L. Risk factors for the existence of attention deficit hyperactivity disorder symptoms in children with autism spectrum disorders. Neuropsychiatr Dis Treat. 2017 ; 13 : 1559-67.

Over the years, several authors have reported symptoms of attention deficit hyperactivity disorder (ADHD) in patients with autism spectrum disorders (ASD) ; however, studies on the risk factors of ADHD symptoms in children with ASD are lacking. The aim of this cross-sectional study was to identify the risk factors for the development of ADHD symptoms in children with ASD. The sample consisted of 67 children with ASD who were assessed with Conner’s Parent Rating Scale-Revised (CPRS-R), and with a semi-structured detailed interview administered to parents, to collect a series of clinical data such as coexisting somatic and neuropsychiatric problems and familial and pre/peri/postpartum risk factors. We found that 55% of ASD children exceeded the cut-off of CPRS-R Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), total scale. The univariate analyses showed that children’s age (P=0.048), motor delay (P=0.039), enuresis (P=0.014), allergies (P<0.01), comorbid oppositional defiant disorder (P=0.026) and intellectual disabilities comorbidities (P=0.034) were associated to the CPRS-R DSM-IV total score. Some familial predictors such as neuropsychiatric family history of intellectual disabilities (P=0.003) and psychosis (P=0.039) were related to the CPRS-R DSM-IV total score. In particular, a model including allergies (P=0.000) and family history of psychosis (P=0.03) explained 25% (corrected R2=0.25) of the variance of the DSM-IV ADHD score. In conclusion, we identified some risk factors associated with the development of ADHD symptoms in ASD children that need to be studied further.

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5. Li G, Jiang W, Du Y, Rossbach K. Intelligence profiles of Chinese school-aged boys with high-functioning ASD and ADHD. Neuropsychiatr Dis Treat. 2017 ; 13 : 1541-9.

PURPOSE : This study aimed to explore the intelligence profiles of Chinese school-aged boys with high-functioning autism spectrum disorder (HFASD) and attention-deficit/hyperactivity disorder (ADHD). Additionally, differences in intelligence quotient (IQ) between the HFASD group and the ADHD group were examined. PATIENTS AND METHODS : Thirty-two boys with HFASD, 58 boys with ADHD, and 39 typically developing (TD) boys aged 6-16 years participated in this study. The ADHD group was divided into subgroups : ADHD-I (predominantly inattentive) and ADHD-C (combined type). (The ADHD-H [hyperactive] group was excluded because of small sample size). The Wechsler Intelligence Scale for Children-IV Chinese version was administered to every participant, and the FSIQ (Full-Scale IQ) score was used as the measure of IQ. RESULTS : Both boys with HFASD and ADHD (ADHD-I and ADHD-C) showed impairments in Processing Speed Index and FSIQ, as compared to the TD group. Lower Verbal Comprehension Index scores were found in the ASD and ADHD-I groups. Interestingly, Working Memory Index was only impaired in children with ADHD. Additionally, equivalent Perceptual Reasoning Index (PRI) scores were found among the HFASD, ADHD, and TD groups. CONCLUSION : Results indicated that both children with ADHD and HFASD have difficulty in processing speed, which may be explained by these children having neurodevelopmental disorders. These results also indicated that working memory appears to only be impacted by having ADHD. Children with ASD are known to have language difficulties while children with ADHD typically display working memory deficits ; thus, these findings were expected.

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6. Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan KYK, Tang MHY, Lau Yim ET, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, Lee SL, Marshall CR, Scherer SW, Kan ASY, Chung BHY. Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. Mol Autism. 2017 ; 8 : 31.

BACKGROUND : Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. METHODS : DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. RESULTS : Ten pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138 kb duplication involving 3’ exons of DPP10 (arr[GRCh37] 2q14.1(116534689_116672358)x3), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of uncertain significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified among our ancestry-matched control with a frequency of 6/653 (0.92%) as well as from literature and genomic databases. CONCLUSIONS : The DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with a population frequency of 1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings.

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7. So WC, Wong MK, Lam CK, Lam WY, Chui AT, Lee TL, Ng HM, Chan CH, Fok DC. Using a social robot to teach gestural recognition and production in children with autism spectrum disorders. Disabil Rehabil Assist Technol. 2017 : 1-13.

While it has been argued that children with autism spectrum disorders are responsive to robot-like toys, very little research has examined the impact of robot-based intervention on gesture use. These children have delayed gestural development. We used a social robot in two phases to teach them to recognize and produce eight pantomime gestures that expressed feelings and needs. Compared to the children in the wait-list control group (N = 6), those in the intervention group (N = 7) were more likely to recognize gestures and to gesture accurately in trained and untrained scenarios. They also generalized the acquired recognition (but not production) skills to human-to-human interaction. The benefits and limitations of robot-based intervention for gestural learning were highlighted. Implications for Rehabilitation Compared to typically-developing children, children with autism spectrum disorders have delayed development of gesture comprehension and production. Robot-based intervention program was developed to teach children with autism spectrum disorders recognition (Phase I) and production (Phase II) of eight pantomime gestures that expressed feelings and needs. Children in the intervention group (but not in the wait-list control group) were able to recognize more gestures in both trained and untrained scenarios and generalize the acquired gestural recognition skills to human-to-human interaction. Similar findings were reported for gestural production except that there was no strong evidence showing children in the intervention group could produce gestures accurately in human-to-human interaction.

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