Pubmed du 24/06/19

lundi 24 juin 2019

1. Gabis LV, Ben-Hur R, Shefer S, Jokel A, Shalom DB. Improvement of Language in Children with Autism with Combined Donepezil and Choline Treatment. J Mol Neurosci ;2019 (Jun 22)

The safety and efficacy of a novel combination treatment of AChE inhibitors and choline supplement was initiated and evaluated in children and adolescents with autism spectrum disorder (ASD). Safety and efficacy were evaluated on 60 children and adolescents with ASD during a 9-month randomized, double-blind, placebo-controlled trial comprising 12 weeks of treatment preceded by baseline evaluation, and followed by 6 months of washout, with subsequent follow-up evaluations. The primary exploratory measure was language, and secondary measures included core autism symptoms, sleep and behavior. Significant improvement was found in receptive language skills 6 months after the end of treatment as compared to placebo. The percentage of gastrointestinal disturbance reported as a side effect during treatment was higher in the treatment group as compared to placebo. The treatment effect was enhanced in the younger subgroup (younger than 10 years), occurred already at the end of the treatment phase, and was sustained at 6 months post treatment. No significant side effects were found in the younger subgroup. In the adolescent subgroup, no significant improvement was found, and irritability was reported statistically more often in the adolescent subgroup as compared to placebo. Combined treatment of donepezil hydrochloride with choline supplement demonstrates a sustainable effect on receptive language skills in children with ASD for 6 months after treatment, with a more significant effect in those under the age of 10 years.

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2. Georgiou G, Demetriou CA, Fanti KA. Distinct Empathy Profiles in Callous Unemotional and Autistic Traits : Investigating Unique and Interactive Associations with Affective and Cognitive Empathy. J Abnorm Child Psychol ;2019 (Jun 22)

Empathy deficits are a hallmark of both callous-unemotional (CU) and autistic traits. However, it is unclear whether each trait is associated with deficits in distinct empathy subcomponents. The aim of the current study was to investigate the main and interactive effects of CU and autistic traits in predicting affective and cognitive empathy. We used data of 163 children (Mage = 7.30, SD = 1.42, 44.2% girls), selected from a large community sample (N = 1652). To ensure variability in empathy, we recruited participants with either low (1 standard-deviation below the mean ; n = 78) or average to high (n = 85) levels of empathy. Partial correlation and regression analysis revealed that autistic traits were negatively associated with cognitive empathy, whereas CU traits were negatively related with both cognitive and affective empathy. Importantly, this is the first study testing the moderating effects of gender, revealing that CU traits negatively predicted affective empathy only among girls high on autistic traits. Findings can be used to understand the different empathy profiles of children with CU or autistic traits, and inform the development of effective interventions.

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3. Lonnie Z. Perspectives on regressive onset in autism : Looking forward on looking back. Neurosci Biobehav Rev ;2019 (Jun 20)

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4. Ruffolo G, Cifelli P, Lourenco C, De Felice E, Limatola C, Sebastiao AM, Diogenes MJ, Aronica E, Palma E. Rare Diseases of Neurodevelopment : Maintain the Mystery or Use a Dazzling Tool for Investigation ? The Case of Rett Syndrome. Neuroscience ;2019 (Jun 20)

The investigation on neurotransmission function during normal and pathologic development is a pivotal component needed to understand the basic mechanisms underlying neurodevelopmental pathologies. To study these diseases, many animal models have been generated which allowed to face the limited availability of human tissues and, as a consequence, the most of the electrophysiology has been performed on these models of diseases. On the other hand, the technique of membrane microtransplantation in Xenopus oocytes allows the study of human functional neurotransmitter receptors thanks to the use of tissues from autopsies or surgeries, even in quantities that would not permit other kinds of functional studies. In this short article, we intend to underline how this technique is well-fit for the study of rare diseases by characterizing the electrophysiological properties of GABAA and AMPA receptors in Rett syndrome. For our purposes, we used both tissues from Rett syndrome patients and Mecp2-null mice, a well validated murine model of the same disease, in order to strengthen the solidity of our results through the comparison of the two. Our findings retrace previous results and, in the light of this, further argue in favor of Prof. Miledi’s technique of membrane microtransplantation that proves itself a very useful tool of investigation in the field of neurophysiology.

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5. Salomao RP, Vale TC, Marussi VHR, Barsottini OGP, Pedroso JL. Late-onset hummingbird sign in a woman with fragile X premutation. J Neurol Sci ;2019 (Jun 20) ;403:75-77.

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6. Sanfeliu A, Kaufmann WE, Gill M, Guasoni P, Tropea D. Transcriptomic Studies in Mouse Models of Rett Syndrome : A Review. Neuroscience ;2019 (Jun 20)

Rett Syndrome (RTT) is a neurological disorder mainly associated with mutations in the X-linked gene coding for the methyl-CpG binding protein 2 (MECP2). To assist in studying MECP2’s function, researchers have generated Mecp2 mouse mutants showing that MECP2’s product (MeCP2) mostly function as a transcriptional regulator. During the last two decades, these models have been used to determine the genes that are regulated by MeCP2, slowly dissecting the aetiological mechanisms underlying RTT. In the present review, we describe the findings of these transcriptomic studies, and highlight differences between them, and discuss how studies on these genetic models can sharpen our understanding of the human disorder. We conclude that - while there’s large variability regarding the number of differentially expressed genes identified - there are overlapping features that inform on the biology of RTT.

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