Pubmed du 31/03/20

mardi 31 mars 2020

1. Dunn S, Jones M. Binocular rivalry dynamics associated with high levels of self-reported autistic traits suggest an imbalance of cortical excitation and inhibition. Behav Brain Res. 2020 : 112603.

An imbalance in cortical excitation and inhibition (E/I) may underlie both social and non-social symptoms of autism spectrum conditions (ASC). Recent work suggests that an E/I imbalance may underlie some of the sensory differences that are characteristic of ASCs such as anomalous perception. Binocular rivalry dynamics are thought to reflect the balance of E/I in the brain and could serve as a behavioural biomarker for ASC. Previous studies of clinical ASC populations have found a slower rate of binocular rivalry transitions ; increased duration of the mixed percept and reduced perceptual suppression. There are some mixed reports of altered rivalry dynamics in the neurotypical population with high self-reported levels of autistic traits. Therefore, we used simple grating stimuli to measure binocular rivalry dynamics in a sample of seventy-nine adults aged 18-55 years. We additionally measured the level of autistic traits with the AQ-10 and used CAPS as a measure of anomalous perception. Bayesian correlations showed that those with higher AQ scores had a slower rate of perceptual switching and a longer mixed percept duration. Significant regression models with CAPS and AQ score revealed that AQ score was a significant predictor of switch rate and mixed percept duration, whereas CAPS was not. We also report that CAPS significantly predicted perceptual suppression, whereas AQ score did not. Overall, our findings suggest that in a non-clinical population, autistic traits are a predictor of binocular rivalry dynamics and the cortical E/I imbalance thought to underlie symptoms of ASC may extend to the broader phenotype.

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2. Fisher K, Robichaux C, Sauerland J, Stokes F. A nurses’ ethical commitment to people with intellectual and developmental disabilities. Nursing ethics. 2020 : 969733019900310.

Aim : This article explores the issues of knowledge deficits of healthcare professionals in meeting the needs of people with IDD throughout the life span, and to identify factors that contribute to these deficits. Although statistics vary due to census results and the presence of a "hidden population," approximately 1%-3% of the global population identify as living with an intellectual or developmental disability. People with intellectual or developmental disability experience health inequities and confront multiple barriers in society, often related to the stigma of intellectual or developmental disability. Disparities in care and service are attributed to a lack of knowledge and understanding among healthcare providers about people with intellectual or developmental disability, despite their increased risk for chronic health problems. The near absence of educational programs in nursing both nationally and internationally contributes to this significant knowledge deficit. In addition, ethical considerations between paternalistic beneficence and idealized autonomy have resulted in a lack of clear direction in working with a population that is often ignored or exploited. Nurses who view people with intellectual or developmental disability as vulnerable without assessing or acknowledging their capabilities may err toward paternalism in an effort to "first do no harm." Likewise, nurses who fail to recognize the challenges and limitations faced by people with intellectual or developmental disability may not provide sufficient protections for a vulnerable person. People with intellectual or developmental disability are not binary, but rather complex individuals with a myriad of presentations. This article seeks to encourage a well-informed model of nursing care. Through an ethical lens, this article explores the nurse’s ethical commitments in cases of victimization, access to care, decision making, and the provision of optimal end-of-life care for people with intellectual or developmental disability.

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3. Guo D, Yang X, Shi L. Rho GTPase Regulators and Effectors in Autism Spectrum Disorders : Animal Models and Insights for Therapeutics. Cells. 2020 ; 9(4).

The Rho family GTPases are small G proteins that act as molecular switches shuttling between active and inactive forms. Rho GTPases are regulated by two classes of regulatory proteins, guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). Rho GTPases transduce the upstream signals to downstream effectors, thus regulating diverse cellular processes, such as growth, migration, adhesion, and differentiation. In particular, Rho GTPases play essential roles in regulating neuronal morphology and function. Recent evidence suggests that dysfunction of Rho GTPase signaling contributes substantially to the pathogenesis of autism spectrum disorder (ASD). It has been found that 20 genes encoding Rho GTPase regulators and effectors are listed as ASD risk genes by Simons foundation autism research initiative (SFARI). This review summarizes the clinical evidence, protein structure, and protein expression pattern of these 20 genes. Moreover, ASD-related behavioral phenotypes in animal models of these genes are reviewed, and the therapeutic approaches that show successful treatment effects in these animal models are discussed.

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4. Jungade S. Manual physical therapy as a novel treatment modality for Autism spectrum disorder - A pilot study. Journal of complementary & integrative medicine. 2020.

Background Autism spectrum disorders (ASDs) fall under neurodevelopmental disorders and are characterized by impaired social interaction and communication, restricted interests, and repetitive behaviors. The current available treatments aim at functional rehabilitation with resultant partial improvement in few and the persistent handicap in rest of them. Manual physical therapy or manual manipulation therapy has the basis in structural rehabilitation of the patient and has been proposed to act by both peripheral and central mechanisms. Case presentation To study improvement in different components of ASD by manual physical therapy, the therapy comprised of soft tissue therapy, in the form of myofascial release (MFR) of deep fascia of leg and foot muscles. The child with ASD, treated by manual physical therapy had global improvement in all the deficits. Conclusions This is probably first case of autism reported to have almost complete symptom resolution, with any single form of treatment and this form of therapy holds promise in integrative and holistic management of the patient.

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5. Shah S, Molinaro G, Liu B, Wang R, Huber KM, Richter JD. FMRP Control of Ribosome Translocation Promotes Chromatin Modifications and Alternative Splicing of Neuronal Genes Linked to Autism. Cell reports. 2020 ; 30(13) : 4459-72.e6.

Silencing of FMR1 and loss of its gene product, FMRP, results in fragile X syndrome (FXS). FMRP binds brain mRNAs and inhibits polypeptide elongation. Using ribosome profiling of the hippocampus, we find that ribosome footprint levels in Fmr1-deficient tissue mostly reflect changes in RNA abundance. Profiling over a time course of ribosome runoff in wild-type tissue reveals a wide range of ribosome translocation rates ; on many mRNAs, the ribosomes are stalled. Sucrose gradient ultracentrifugation of hippocampal slices after ribosome runoff reveals that FMRP co-sediments with stalled ribosomes, and its loss results in decline of ribosome stalling on specific mRNAs. One such mRNA encodes SETD2, a lysine methyltransferase that catalyzes H3K36me3. Chromatin immunoprecipitation sequencing (ChIP-seq) demonstrates that loss of FMRP alters the deployment of this histone mark. H3K36me3 is associated with alternative pre-RNA processing, which we find occurs in an FMRP-dependent manner on transcripts linked to neural function and autism spectrum disorders.

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6. Tan DW, Foo YZ, Downs J, Finlay-Jones A, Leonard H, Licari MK, Mullan N, Symons M, Varcin KJ, Whitehouse AJO, Alvares GA. A preliminary investigation of the effects of prenatal alcohol exposure on facial morphology in children with Autism Spectrum Disorder. Alcohol (Fayetteville, NY). 2020.

Alcohol exposure during pregnancy has been associated with altered brain development and facial dysmorphology. While autism spectrum disorder (ASD) is not specifically related to distinct facial phenotypes, recent studies have suggested certain facial characteristics such as increased facial masculinity and asymmetry may be associated with ASD and its clinical presentations. In the present study, we conducted a preliminary investigation to examine facial morphology in autistic children with (n = 37 ; mean age = 8.21 years, SD = 2.72) and without (n = 100 ; mean age = 8.37 years, SD = 2.47) prenatal alcohol exposure. Using three-dimensional facial scans and principal component analysis, we identified a facial shape associated with prenatal alcohol exposure in autistic children. However, variations in the alcohol-related facial shape were generally not associated with behavioural and cognitive outcomes. These findings suggest that while early exposure to alcohol may influence the development of facial structures, it does not appear to be associated with ASD phenotypic variability. Importantly, although these findings do not implicate a role for prenatal alcohol exposure in the etiology of ASD, further research is warranted to investigate the link between prenatal alcohol exposure and facial morphology differences among neurodevelopmental conditions.

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7. Waddington H, McLay L, Woods L, Whitehouse AJO. Child and Family Characteristics Associated with Sleep Disturbance in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

Little is known about the role of family characteristics in sleep disturbance for children with autism spectrum disorder (ASD). This study involved an exploratory analysis of the association between 17 child, parent, and socioeconomic characteristics and sleep disturbance using data from 203, 2-18-year-old children with ASD whose families participated in the Western Australian Autism Biological Registry. Results suggest that greater ASD symptom severity ; child seizures ; maternal autism traits, anxiety, and depression ; lower paternal education ; and lower family income were related to increased sleep disturbance. All these characteristics, aside from maternal depression, were significant predictors within a regression model, which accounted for 33% of the total variance. Thus, child characteristics alone may not adequately explain sleep disturbance in children with ASD.

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8. Westby C. Screen Time and Children with Autism Spectrum Disorder. Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP). 2020 : 1-8.

BACKGROUND : Research is increasingly raising concerns regarding the negative consequences of children’s use of screens. SUMMARY : This article reviews the literature on the benefits and risks of screen time with attention to explaining possible reasons that children with autism are more at risk for the negative effects of screen time. Based on the science of learning literature, a framework for choosing appropriate digital media for children with autism is described. The 3-component framework considers the characteristics of the child, the context in which digital media are used, and the content of the media. Key Message : Using the framework, the speech-language pathologist will be better able to select appropriate digital media content for children with autism that is engaging (while not being distracting), encourages the child to be actively involved with the media, is meaningful in the child’s life, and incorporates social interactions with others.

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9. Yoon SH, Choi J, Lee WJ, Do JT. Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder. J Clin Med. 2020 ; 9(4).

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized by difficulties in social interaction, language development delays, repeated body movements, and markedly deteriorated activities and interests. Environmental factors, such as viral infection, parental age, and zinc deficiency, can be plausible contributors to ASD susceptibility. As ASD is highly heritable, genetic risk factors involved in neurodevelopment, neural communication, and social interaction provide important clues in explaining the etiology of ASD. Accumulated evidence also shows an important role of epigenetic factors, such as DNA methylation, histone modification, and noncoding RNA, in ASD etiology. In this review, we compiled the research published to date and described the genetic and epigenetic epidemiology together with environmental risk factors underlying the etiology of the different phenotypes of ASD.

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