Pubmed du 05/03/20

jeudi 5 mars 2020

1. Bernardo P, Cobb S, Coppola A, Tomasevic L, Di Lazzaro V, Bravaccio C, Manganelli F, Dubbioso R. Neurophysiological signatures of motor impairment in patients with Rett syndrome. Ann Neurol ;2020 (Mar 4)

OBJECTIVE : Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder due to pathogenic mutations in the MECP2 gene. Motor impairment constitutes the core diagnostic feature of RTT. Preclinical studies have consistently demonstrated alteration of excitation/inhibition (E/I) balance and aberrant synaptic plasticity at cortical level. Herein we aimed at understanding neurobiological mechanisms underlying motor deficit by assessing in "vivo" synaptic plasticity and E/I balance in the primary motor cortex (M1). METHODS : On 14 patients with typical RTT, 9 epilepsy controls patients and 11 healthy controls we applied paired-pulse transcranial magnetic stimulation (TMS) protocols to evaluate the Excitation Index, a biomarker reflecting the contribution of inhibitory and facilitatory circuits in M1. Intermittent TMS-theta burst stimulation was used to probe Long-Term-Potentiation (LTP)-like plasticity in M1. Motor impairment, assessed by ad hoc clinical scales, was correlated with neurophysiological metrics. RESULTS : RTT patients displayed a significant increase of the Excitation Index (p= 0.003), as demonstrated by the reduction of short-interval intracortical inhibition and increase of intra-cortical facilitation, suggesting a shift toward cortical excitation likely due to GABAergic dysfunction. Impairment of inhibitory circuits was also confirmed by the reduction of long-interval intracortical inhibition (p= 0.002). LTP-like plasticity in M1 was abolished (p= 0.008) and scaled with motor disability (all p= 0.003). INTERPRETATION : TMS is a method that can be used to assess cortical motor function in RTT patients. Our findings support the introduction of TMS measures in clinical and research settings to monitor the progression of motor deficit and response to treatment. This article is protected by copyright. All rights reserved.

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2. Carlisle GK, Johnson RA, Wang Z, Brosi TC, Rife EM, Hutchison A. Exploring Human-Companion Animal Interaction in Families of Children with Autism. J Autism Dev Disord ;2020 (Mar 4)

The study goal was to explore companion animal (CA) ownership in families of children with autism spectrum disorder (ASD), including parents’ beliefs about benefits and burdens of CAs, as well as parent stress. Participants (N = 764) completed online survey instruments anonymously. Findings revealed that parents with lower incomes perceived more benefits of CAs and their children were more strongly bonded with their CAs. Parents owning both a dog and cat perceived more benefits than those with only a dog or cat. Dog owners perceived more benefits than cat owners. Parents who perceived their CAs as providing more benefits had less stress. Provider implications are to consider recommending CAs to families of children with ASD for family benefits including lower parental stress.

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3. Chen YJ, Chen CY, Mai TL, Chuang CF, Chen YC, Gupta SK, Yen L, Wang YD, Chuang TJ. Genome-wide integrative analysis of circular RNA dysregulation and the corresponding circular RNA-microRNA-mRNA regulatory axes in autism. Genome Res ;2020 (Mar 3)

Circular RNAs (circRNAs), a class of long noncoding RNAs, are known to be enriched in mammalian neural tissues. While a wide range of dysregulation of gene expression in autism spectrum disorder (ASD) have been reported, the role of circRNAs in ASD remains largely unknown. Here we performed genome-wide circRNA expression profiling in post-mortem brains from individuals with ASD and controls and identified 60 circRNAs and three coregulated modules that were perturbed in ASD. By integrating circRNA, microRNA, and mRNA dysregulation data derived from the same cortex samples, we identified 8,170 ASD-associated circRNA-microRNA-mRNA interactions. Putative targets of the axes were enriched for ASD risk genes and genes encoding inhibitory postsynaptic density (PSD) proteins, but not for genes implicated in monogenetic forms of other brain disorders or genes encoding excitatory PSD proteins. This reflects the previous observation that ASD-derived organoids exhibit overproduction of inhibitory neurons. We further confirmed that some ASD risk genes (NLGN1, STAG1, HSD11B1, VIP, and UBA6) were regulated by an upregulated circRNA (circARID1A) via sponging a downregulated microRNA (miR-204-3p) in human neuronal cells. Particularly, alteration of NLGN1 expression is known to affect the dynamic processes of memory consolidation and strengthening. To the best of our knowledge, this is the first systems-level view of landscape of circRNA regulatory networks in ASD cortex samples. We provided a rich set of ASD-associated circRNA candidates and the corresponding circRNA-miRNA-mRNA axes, particularly those involving ASD risk genes. Our findings thus support a role for circRNA dysregulation and the corresponding circRNA-microRNA-mRNA axes in ASD pathophysiology.

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4. Failla MD, Bryant LK, Heflin BH, Mash LE, Schauder K, Davis S, Gerdes MB, Weitlauf A, Rogers BP, Cascio CJ. Neural Correlates of Cardiac Interoceptive Focus Across Development : Implications for Social Symptoms in Autism Spectrum Disorder. Autism Res ;2020 (Mar 5)

Interoception involves the processing of sensory information relevant to physiological functioning and is integral to building self-awareness, emotional states, and modulating social behaviors. With the role of interoception in emotional processing and social functioning, there is growing interest in characterizing interoception in autism spectrum disorder (ASD), yet, there are mixed results regarding cardiac interoceptive accuracy in ASD. In this study, we explored the neural basis of cardiac interoception using an fMRI heartbeat-counting task in order to assess neural correlates of primary interoception. We predicted that interoceptive-specific response in the insula, a "hub" for interoception, would be related to ASD symptomatology. We investigated the relationship of insula responses during cardiac interoceptive focus and a self/caregiver-reported autism-related symptom scale (Social Responsiveness Scale-2 (SRS)). Participants included 46 individuals with autism spectrum disorder (ASD) (age 8-54, mean = 19.43 +/- 10.68 years) and 54 individuals with typical development for comparison (TC, age 8-53, mean = 21.43 +/- 10.41 years). We found no significant difference in cardiac interoceptive accuracy or neural response to cardiac interoception focus in ASD. Several insula subdivisions had a curvilinear relationship to age, peaking in early adulthood. Interoceptive-specific insula response was associated with adult self-report SRS scores ; this association differed by diagnostic group and was not present for caregiver-reported scores. This work suggests that (a) there is no global deficit in cardiac interoception in ASD, but integrating interoceptive cues with social information may distinguish individuals with ASD, and (b) there is a developmental trajectory for interoceptive processing in the insula that may be relevant for socio-emotional health. LAY SUMMARY : We use internal sensory information from the body, such as signals from the heart, to understand our emotional response to the external world. We measured how accurately people with autism feel their heartbeat and how the brain responds to this type of information. We found no differences between the autism and comparison groups in how the brain senses heartbeats, or in how accurately people feel their heartbeats. However, for people with autism, brain responses while sensing heartbeats were related to social difficulties. This work suggests people with autism may use internal and external information in a different way. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.

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5. Hernandez LM, Lawrence KE, Padgaonkar NT, Inada M, Hoekstra JN, Lowe JK, Eilbott J, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, McPartland JC, Webb SJ, Pelphrey KA, Green SA, Geschwind DH, Bookheimer SY, Dapretto M. Imaging-genetics of sex differences in ASD : distinct effects of OXTR variants on brain connectivity. Transl Psychiatry ;2020 (Mar 3) ;10(1):82.

Autism spectrum disorder (ASD) is more prevalent in males than in females, but the neurobiological mechanisms that give rise to this sex-bias are poorly understood. The female protective hypothesis suggests that the manifestation of ASD in females requires higher cumulative genetic and environmental risk relative to males. Here, we test this hypothesis by assessing the additive impact of several ASD-associated OXTR variants on reward network resting-state functional connectivity in males and females with and without ASD, and explore how genotype, sex, and diagnosis relate to heterogeneity in neuroendophenotypes. Females with ASD who carried a greater number of ASD-associated risk alleles in the OXTR gene showed greater functional connectivity between the nucleus accumbens (NAcc ; hub of the reward network) and subcortical brain areas important for motor learning. Relative to males with ASD, females with ASD and higher OXTR risk-allele-dosage showed increased connectivity between the NAcc, subcortical regions, and prefrontal brain areas involved in mentalizing. This increased connectivity between NAcc and prefrontal cortex mirrored the relationship between genetic risk and brain connectivity observed in neurotypical males showing that, under increased OXTR genetic risk load, females with ASD and neurotypical males displayed increased connectivity between reward-related brain regions and prefrontal cortex. These results indicate that females with ASD differentially modulate the effects of increased genetic risk on brain connectivity relative to males with ASD, providing new insights into the neurobiological mechanisms through which the female protective effect may manifest.

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6. Kandeel WA, Meguid NA, Bjorklund G, Eid EM, Farid M, Mohamed SK, Wakeel KE, Chirumbolo S, Elsaeid A, Hammad DY. Impact of Clostridium Bacteria in Children with Autism Spectrum Disorder and Their Anthropometric Measurements. J Mol Neurosci ;2020 (Mar 4)

Current research has shown that gut microbiota may play a fundamental role in neurological activity, behavior, mood, cognition, and possibly for the onset as well as the severity of autism spectrum disorder (ASD). Previous studies emphasized the possible correlation between Clostridium spp., gut colonization, and possible development or exacerbating of ASD in affected children. The aim of the present study was to investigate how Clostridia gut colonization can have an impact on the neurological outcome and anthropometric values in ASD children. The present study included 60 children (30 ASD and 30 neurotypical controls) of both sexes aged from 2 to 8 years. Children with ASD were diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5), Autism Diagnostic Interview-Revised (ADI-R), as well as the Childhood Autism Rating Scale (CARS). Quantitative real-time polymerase chain reaction (real-time PCR) was used to determine Clostridium presence in the stools of the enrolled subjects. The number of Clostridium spp. (Clostridium paraputri, Clostridium bolteae, and Clostridium perfringens) found in the stools of ASD children was greater than neurotypical children. Children with ASD had two types of Clostridium (Clostridium diffiicile and Clostridium clostridiioforme) not found in neurotypical children, whereas neurotypical children yielded only one species (Clostridium tertium) not found in the ASD children. The present study emphasizes the potential correlation between gut colonization of Clostridia and the probability of developing or exacerbating ASD among Egyptian children. If Clostridium bacteria play a potential role in the etiology of ASD, this may open the possibility for effective treatment of these patients.

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7. Naguy A. Autism and Gender Dysphoria : Searching for the Holy Grail. Prim Care Companion CNS Disord ;2020 (Mar 5) ;22(2)

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8. Naidoo M, Singh S. A Dental Communication Board as an Oral Care Tool for Children with Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Mar 5)

Children with autism spectrum disorder (ASD) sometimes display an inability for information sharing through functional verbal communication. This may interfere with professional oral care. These children tend to process visual information more efficiently than auditory information. Picture schedules can briefly suffice as visual cues serving a vital function in helping children with ASD to function in a particular setting such as an oral care environment. A visual communication implement such as a dental communication board was developed in this study to allow for a facilitated communication process between the patient with ASD and the oral care professional. This study entailed two main phases, namely the selection of symbols for the construction of a dental communication board and the small scale testing of the board in a clinical setting. This study incorporated a combination of a quantitative non-experimental descriptive survey combined with a concurrent mixed method survey design which retrieved data for both close-ended and open-ended questions from the same respondent. A quantitative survey questionnaire at a structured dental seminar presentation was employed for the first phase, and a combination of a quantitative and qualitative questionnaire was employed for the second phase of this study. Documented responses were collated and analyzed using frequency and thematic analysis. The most frequently selected symbols were retrieved after a frequency analysis and displayed on a color coded background to distinguish the various categories on the dental communication board. The thematic analysis resulted in the emergence of three main themes, namely the strengths of the board ; weakness of the board and suggestions. This study anticipates the incorporation of a dental communication board as a visual mode using graphic symbols to augment expressive and receptive language in an oral care environment to facilitate professional oral care for children with ASD.

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9. Nicholas DB, MacCulloch R, Roberts W, Zwaigenbaum L, McKeever P. Tensions in Maternal Care for Children, Youth, and Adults With Autism Spectrum Disorder. Glob Qual Nurs Res ;2020 (Jan-Dec) ;7:2333393620907588.

This study explored the experiences of mothers caring for an individual with autism spectrum disorder (ASD) ranging from 5 to 25 years of age, and examined pervasive tensions in caregiving. Guided by ethnographic methods, a retrospective cross-sectional study was conducted. Interviews with 85 mothers were analyzed inductively. Prevalent tensions in maternal caregiving were identified : (a) difficulties obtaining, yet resistance to, an ASD diagnosis ; (b) identified giftedness of the child versus notions of deficit imposed by others ; (c) disability-related behaviors erroneously interpreted as ’poor parenting’ ; (d) contradictory considerations in diagnosis disclosure ; (e) the invisibility yet pervasiveness of ASD ; (f) extensive need for, yet the lack of, accessible services ; (g) ASD-related care demands versus other pressing responsibilities ; (h) arguments for inclusive versus exclusive services ; and (i) aims of nurturing independence versus managing safety risk. Tensions were heightened by insufficient supports relative to need. Implications and recommendations for practice and policy are offered.

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10. Sciara AN, Beasley B, Crawford JD, Anderson EP, Carrasco T, Zheng S, Ordway GA, Chandley MJ. Neuroinflammatory Gene Expression Alterations in Anterior Cingulate Cortical White and Gray Matter of Males With Autism Spectrum Disorder. Autism Res ;2020 (Mar 4)

Evidence for putative pathophysiological mechanisms of autism spectrum disorder (ASD), including peripheral inflammation, blood-brain barrier disruption, white matter alterations, and abnormal synaptic overgrowth, indicate a possible involvement of neuroinflammation in the disorder. Neuroinflammation plays a role in the development and maintenance of the dendritic spines involved in glutamatergic and GABAergic neurotransmission, and also influences blood-brain permeability. Cytokines released from microglia can impact the length, location or organization of dendritic spines on excitatory and inhibitory cells as well as recruit and impact glial cell function around the neurons. In this study, gene expression levels of anti- and pro-inflammatory signaling molecules, as well as oligodendrocyte and astrocyte marker proteins, were measured in both gray and white matter tissue in the anterior cingulate cortex from ASD and age-matched typically developing (TD) control brain donors, ranging from ages 4 to 37 years. Expression levels of the pro-inflammatory gene, HLA-DR, were significantly reduced in gray matter and expression levels of the anti-inflammatory gene MRC1 were significantly elevated in white matter from ASD donors as compared to TD donors, but neither retained statistical significance after correction for multiple comparisons. Modest trends toward differences in expression levels were also observed for the pro-inflammatory (CD68, IL1beta) and anti-inflammatory genes (IGF1, IGF1R) comparing ASD donors to TD donors. The direction of gene expression changes comparing ASD to TD donors did not reveal consistent findings implicating an elevated pro- or anti-inflammatory state in ASD. However, altered expression of pro- and anti-inflammatory gene expression indicates some involvement of neuroinflammation in ASD. LAY SUMMARY : The anterior cingulate cortex is an integral brain region in modulating social behaviors including nonverbal communication. The study found that inflammatory gene expression levels were altered in this brain region. We hypothesize that the inflammatory changes in this area could impact neuronal function. The finding has future implications in using these molecular markers to identify potential environmental exposures and distinct cell differences in autism. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.

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11. Tse ACY. Brief Report : Impact of a Physical Exercise Intervention on Emotion Regulation and Behavioral Functioning in Children with Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Mar 4)

Problems with emotion regulation and behavior are often reported in children with autism spectrum disorders (ASD). This pilot study examined the effect of physical exercise on emotion regulation and behavioral functioning in children with ASD. Twenty-seven children aged 8-12 years were randomized into either an exercise intervention group (n = 15) or a control group (n = 12). The intervention group received a 12-week jogging intervention. Children’s parents completed the Emotion Regulation Checklist and the Child Behavior Checklist pre- and post-intervention. The intervention group demonstrated significant improvement in emotion regulation and reduction in behavioral problems (ps < .05). Future studies should explore the mechanisms underlying the effects of physical exercise on emotion regulation and behavior in children with ASD.

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12. Writing Group For Practice Guidelines For D, Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical A, Guan R, Li Q, Fu S. [Clinical practice guidelines for Rett syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2020 (Mar 10) ;37(3):308-312.

Rett syndrome (RTT) is a neurodevelopmental disorder mainly affecting the females. It is closely associated with mutations of methylated CpG binding protein 2 ((MeCP2))] gene on the X chromosome. The incidence of RTT in females is 1/15 000 - 1/10 000. Its clinical features include mental retardation, loss of language function, rigid movement of hands, and abnormal gait. Currently there is no cure for the disease but only symptomatic treatment. The compilation of this guideline has referred to the third edition of Diagnostic Standard of RTT as revised in 2010, and integrated the latest findings of clinical research at home and abroad, in addition with conditions and clinical practice in China, with an aim to provide guidance for the clinical diagnosis, treatment and genetic counseling of patients with RTT.

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