Pubmed du 04/07/20

samedi 4 juillet 2020

1. Ben-Itzchak E, Koller J, Zachor DA. Characterization and Prediction of Anxiety in Adolescents with Autism Spectrum Disorder : A Longitudinal Study. Journal of abnormal child psychology. 2020.

Anxiety is one of the most common comorbidities in youth with autism spectrum disorder (ASD). The current study’s aims were : To examine the frequency of elevated anxiety symptoms in adolescents diagnosed with ASD in toddlerhood ; To explore the impact of comorbid anxiety in adolescents on clinical presentation ; To evaluate variables in toddlerhood that associate with anxiety symptom severity in adolescence. The study included 61 adolescents (mean age = 13:8y) diagnosed with ASD in toddlerhood (T1). Participants underwent a comprehensive assessment of cognitive ability, adaptive skills and autism severity at T1 and again as adolescents (T2), and an evaluation of anxiety symptoms at T2. For the first aim, the most prevalent anxiety subtypes noted in adolescence were separation (39.3%), social (27.9%) and generalized anxiety (18.0%). For the second aim, cognitive ability, autism severity and adaptive skills in adolescents with and without elevated anxiety symptoms scores of any type did not differ significantly. For the third aim, younger age at adolescence was associated with more severe separation and generalized anxiety symptoms. Higher cognitive ability and adaptive skills in toddlerhood were associated with elevated generalized anxiety symptoms in adolescence. Lower adaptive behaviors and repetitive behaviors (RRBs) correlated with elevated social anxiety symptoms. Lower cognitive abilities and more severe RRBs in toddlerhood predicted separation anxiety in adolescence. The study sheds light on early characteristics in ASD that associate with anxiety symptom severity in adolescence. The type of elevated anxiety symptoms presented in adolescence associated with the level of cognitive ability, adaptive skills and RRBs in toddlerhood.

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2. Cai RY, Uljarević M, Leekam SR. Predicting Mental Health and Psychological Wellbeing in Mothers of Children with Autism Spectrum Disorder : Roles of Intolerance of Uncertainty and Coping. Autism Res. 2020.

Research has consistently shown that parents of children with autism spectrum disorder (ASD) are more likely to report chronic stress and symptoms of psychopathology when compared to parents of typically developing children and children with other psychological or physical conditions. Certain individual characteristics might either put parents at risk or allow them to cope more effectively under the strenuous conditions of raising children with neurodevelopmental conditions. Previous research has suggested that higher levels of intolerance of uncertainty and certain coping styles are associated with higher parental levels of anxiety and depression. The aim of this study is to characterize the way in which intolerance of uncertainty and coping (avoidant and problem-focused coping) predict mental health and psychological wellbeing in parents of children with ASD. Only mothers participated in this study. Fifty mothers (M(age) = 44.28 years, SD(age) = 6.58) of children with ASD completed questionnaires assessing anxiety and depression, psychological wellbeing, intolerance of uncertainty, and avoidant and problem-focused coping. The results from this study provide preliminary evidence that higher use of problem-focused coping but not avoidant coping and intolerance of uncertainty predicts psychological wellbeing. Furthermore, our observation of greater intolerance of uncertainty and higher use of avoidant coping predicting anxiety and depression supports previous research. The findings from this study have implications for the development of intervention programs to help improve the mental health and psychological wellbeing of parents. LAY SUMMARY : This research studied the factors that impact the mental health of parents of children on the autism spectrum. We found that mothers, who are not comfortable with uncertainty, use more avoidant coping, and less problem-focused coping have poorer mental health. Identifying these factors is a crucial first step in developing intervention programs to help improve the mental health of parents.

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3. Cederquist GY, Tchieu J, Callahan SJ, Ramnarine K, Ryan S, Zhang C, Rittenhouse C, Zeltner N, Chung SY, Zhou T, Chen S, Betel D, White RM, Tomishima M, Studer L. A Multiplex Human Pluripotent Stem Cell Platform Defines Molecular and Functional Subclasses of Autism-Related Genes. Cell stem cell. 2020 ; 27(1) : 35-49.e6.

Autism is a clinically heterogeneous neurodevelopmental disorder characterized by impaired social interactions, restricted interests, and repetitive behaviors. Despite significant advances in the genetics of autism, understanding how genetic changes perturb brain development and affect clinical symptoms remains elusive. Here, we present a multiplex human pluripotent stem cell (hPSC) platform, in which 30 isogenic disease lines are pooled in a single dish and differentiated into prefrontal cortex (PFC) lineages to efficiently test early-developmental hypotheses of autism. We define subgroups of autism mutations that perturb PFC neurogenesis and are correlated to abnormal WNT/βcatenin responses. Class 1 mutations (8 of 27) inhibit while class 2 mutations (5 of 27) enhance PFC neurogenesis. Remarkably, autism patient data reveal that individuals carrying subclass-specific mutations differ clinically in their corresponding language acquisition profiles. Our study provides a framework to disentangle genetic heterogeneity associated with autism and points toward converging molecular and developmental pathways of diverse autism-associated mutations.

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4. Chasson GS, Eskow KG, Summers JA, Dreher TM. Characterization of Family-Directed Care Coordination and Involvement in Behavioral Treatments in an Autism-Specific Medicaid Waiver. J Autism Dev Disord. 2020.

Services for children with autism spectrum disorder (ASD) and their families have evolved with the advent of the Medicaid waiver, leading to more family-based coordination of care. Evaluating family involvement, the current investigation compared 230 families of children with ASD receiving Medicaid waiver services to a propensity-score matched group of 230 families who were waiting for such services (i.e., registry families). Compared to the registry, waiver families reported more involvement in service planning tasks, but not activities related to future-planning, managing crisis situations, or searching for and securing funding. Additional analyses characterize waiver families as engaging in high levels of coordinating and delivering behavioral interventions for their child. Implications for family burden and future programming for waiver programs are discussed.

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5. Cummins C, Pellicano E, Crane L. Autistic adults’ views of their communication skills and needs. Int J Lang Commun Disord. 2020.

BACKGROUND : Autistic people require varying levels of support at different stages of their lives. Yet, the healthcare needs of autistic adults are largely unmet. Speech and language therapy (SLT) is one healthcare service that has an important role in supporting autistic people : both with initial diagnosis, and with the ongoing support needed to navigate different communicative challenges across the lifespan. Despite recommendations for such support, currently there is no clear SLT pathway for autistic adults, and a lack of established approaches to support autistic adults’ speech, language and communication needs. AIMS : To seek autistic adults’ views on (1) their communication skills and support needs ; (2) the type of support SLT could offer ; and (3) how such support could be provided. METHODS & PROCEDURES : A total of 18 autistic adults were interviewed in their preferred mode of communication (e.g., face to face, phone call, text messaging, e-mail), expressing their views on their communication skills and needs. Interview data were analysed using thematic analysis. OUTCOMES & RESULTS : Autistic adults presented complex views on communication, identifying the benefits of communication, while also emphasizing the significant negative impact that communication difficulties can have on their everyday lives. Identifying a range of internal (e.g., personal feelings) and external (e.g., the communication partner) factors, they highlighted the need for support at both individual levels (for specific life situations) and broader societal levels (to increase awareness and acceptance of communication difficulties). CONCLUSIONS & IMPLICATIONS : Considering the negative impact that communication difficulties can have for autistic adults, a need for support was emphasized. Despite recognition of this need within current legislation (in the UK) and positive steps toward providing support, more needs to be done. As experts in supporting individuals with communication difficulties, speech and language therapists could play a pivotal role in providing support at an individual level, as well as increasing awareness of communication differences more widely. What this paper adds What is already known on this subject There is a growing population of autistic adults with unmet support needs. A core characteristic of autism is difficulty with neurotypical social communication and interaction, which persists into adulthood and impacts across various life domains. What this paper adds to existing knowledge Autistic adults outlined the types of communication difficulties they experience, and how these can negatively impact on physical and mental health. Results highlight how these difficulties are not just rooted within the person themselves but can be influenced by external factors (e.g., the environment and the communication partner). What are the potential or actual clinical implications of this work ? Some autistic adults may benefit from direct support from SLT services. However, increased awareness and respect for communication differences at a broader societal level is also needed. Speech and language therapists can play an important role in increasing this level of awareness, positively highlighting differences in communication and ways to support people with communication difficulties/differences.

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6. Dong Q, Kim J, Nguyen L, Bu Q, Chang Q. An astrocytic influence on impaired tonic inhibition in hippocampal CA1 pyramidal neurons in a mouse model of Rett syndrome. J Neurosci. 2020.

Rett syndrome (RTT) is a severe neurodevelopmental disease caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. Although altered interneuron development and function are clearly demonstrated in RTT mice, a particular mode of inhibition, tonic inhibition, has not been carefully examined. We report here that tonic inhibition is significantly reduced in pyramidal neurons in the CA1 region of the hippocampus in mice where Mecp2 is deleted either in all cells or specifically in astrocytes. Since no change is detected in the level of GABA receptors, such a reduction in tonic inhibition is likely a result of decreased ambient GABA level in the extracellular space. Consistent with this explanation, we observed increased expression of a GABA transporter, GAT-3, in the hippocampus of the Mecp2 knockout (KO) mice, as well as a corresponding increase of GAT-3 current in hippocampal astrocytes. These phenotypes are relevant to RTT, because pharmacological blockage of GAT-3 can normalize tonic inhibition and intrinsic excitability in CA1 pyramidal neurons, and rescue the phenotype of increased network excitability in acute hippocampal slices from the Mecp2 KO mice. Finally, chronic administration of a GAT-3 antagonist improved a composite symptom score and extended lifespan in the Mecp2 KO mice. Only male mice were used in this study. These results not only advance our understanding of RTT etiology by defining a new neuronal phenotype and revealing how it can be influenced by astrocytic alterations, but also reveal potential targets for intervention.Significance StatementOur study reports a novel phenotype of reduced tonic inhibition in hippocampal CA1 pyramidal neurons in the Rett syndrome (RTT) mice, reveal a potential mechanism of increased GABA transporter expression/activity in the neighboring astrocytes, describe a disease-relevant consequence in hyperexcitability, and provide preliminary evidence that targeting this phenotype may slow down disease progression in RTT mice. These results help our understanding of the disease etiology and identify a new therapeutic target for treating Rett syndrome.

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7. Du RY, Lam PPY, Yiu CKY, McGrath CP. Evaluation of visual pedagogy in improving plaque control and gingival inflammation among preschool children with Autism Spectrum Disorder : An interventional study. Int J Paediatr Dent. 2020.

BACKGROUND : Visual pedagogy (VP) is a behavioural intervention used to facilitate learning among autistic children. Limited studies have evaluated VP when applied to dentistry. AIM : Evaluate the effectiveness of VP in improving oral hygiene and gingival health status of autistic children. DESIGN : The interventional study was conducted among 122 autistic preschool children and their parents in Hong Kong. Toothbrushing visual pedagogy (TBVP) were provided to parents for supervising their children with toothbrushing at home. The children’s sociodemographic background, developmental profile, clinical parameters were obtained via parental questionnaire, standardised assessment form and clinical examination respectively. The change in plaque and gingival indices over time, and potential confounding factors were evaluated with Friedman’s Two-Way Analysis and logistic regressions respectively. RESULTS : Significantly lower level of plaque and gingival inflammation were found at 3 months and 6 months than baseline. The oral health status of children with poorer baseline oral hygiene status and gingival health were more likely to improve with TPVP. Other developmental and socioeconomic backgrounds had insignificant associations on the improvement of these clinical parameters. CONCLUSION : The findings suggest TBVP is effective in promoting oral hygiene maintenance and improving the periodontal conditions among individuals diagnosed with ASD.

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8. García-Domínguez I, Suárez-Pereira I, Santiago M, Pérez-Villegas EM, Bravo L, López-Martín C, Roca-Ceballos MA, García-Revilla J, Espinosa-Oliva AM, Rodríguez-Gómez JA, Joseph B, Berrocoso E, Armengol J, Venero JL, Ruiz R, de Pablos RM. Selective deletion of Caspase-3 gene in the dopaminergic system exhibits autistic-like behaviour. Prog Neuropsychopharmacol Biol Psychiatry. 2020 ; 104 : 110030.

Apoptotic caspases are thought to play critical roles in elimination of excessive and non-functional synapses and removal of extra cells during early developmental stages. Hence, an impairment of this process may thus constitute a basis for numerous neurological and psychiatric diseases. This view is especially relevant for dopamine due to its pleiotropic roles in motor control, motivation and reward processing. Here, we have analysed the effect of caspase-3 depletion on the development of catecholaminergic neurons and performed a wide array of neurochemical, ultrastructural and behavioural assays. To achieve this, we performed selective deletion of the Casp3 gene in tyrosine hydroxylase (TH)-expressing cells using Cre-loxP-mediated recombination. Histological evaluation of most relevant catecholaminergic nuclei revealed the ventral mesencephalon as the most affected region. Stereological analysis demonstrated an increase in the number of TH-positive neurons in both the substantia nigra and ventral tegmental area along with enlarged volume of the ventral midbrain. Analysis of main innervating tissues revealed a rather contrasting profile. In striatum, basal extracellular levels and potassium-evoked DA release were significantly reduced in mice lacking Casp3, a clear indication of dopaminergic hypofunction in dopaminergic innervating tissues. This view was sustained by analysis of TH-labelled dopaminergic terminals by confocal and electron microscopy. Remarkably, at a behavioural level, Casp3-deficient mice exhibited impaired social interaction, restrictive interests and repetitive stereotypies, which are considered the core symptoms of autism spectrum disorder (ASD). Our study revitalizes the potential involvement of dopaminergic transmission in ASD and provides an excellent model to get further insights in ASD pathogenesis.

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9. Hayward BE, Steinbach PJ, Usdin K. A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders. Nucleic acids research. 2020.

The Fragile X-related disorders (FXDs) are Repeat Expansion Diseases, genetic disorders that result from the expansion of a disease-specific microsatellite. In those Repeat Expansion Disease models where it has been examined, expansion is dependent on functional mismatch repair (MMR) factors, including MutLγ, a heterodimer of MLH1/MLH3, one of the three MutL complexes found in mammals and a minor player in MMR. In contrast, MutLα, a much more abundant MutL complex that is the major contributor to MMR, is either not required for expansion or plays a limited role in expansion in many model systems. How MutLγ acts to generate expansions is unclear given its normal role in protecting against microsatellite instability and while MLH3 does have an associated endonuclease activity, whether that contributes to repeat expansion is uncertain. We show here, using a gene-editing approach, that a point mutation that eliminates the endonuclease activity of MLH3 eliminates expansions in an FXD mouse embryonic stem cell model. This restricts the number of possible models for repeat expansion and supports the idea that MutLγ may be a useful druggable target to reduce somatic expansion in those disorders where it contributes to disease pathology.

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10. Kuzminskaite E, Begeer S, Hoekstra RA, Grove R. Short report : Social communication difficulties and restricted repetitive behaviors as predictors of anxiety in adults with autism spectrum disorder. Autism. 2020 : 1362361320934218.

Autism spectrum disorder and anxiety are highly comorbid conditions. Understanding the underlying traits of anxiety in autism spectrum disorder is crucial to prevent and treat it efficiently. Hence, this study determined whether social communication difficulties or restricted repetitive behaviors are stronger risk factors for anxiety symptoms in autistic adults in a large cohort. Data on 742 autistic adults from the Netherlands Autism Register were included in the study. Hierarchical regression was implemented to evaluate whether social communication difficulties (Autism-Spectrum Quotient social behavior factor) and restricted repetitive behaviors (Adult Routines Inventory) were predictive of anxiety (Hospital Anxiety and Depression Scale) controlling for age and sex. When considered together, restricted repetitive behaviors stood out as significant positive predictors of anxiety symptoms (lower-order restricted repetitive behaviors, β = 0.32, p < 0.001 ; higher-order restricted repetitive behaviors, β = 0.15, p = 0.001), whereas social communication difficulties did not (β = 0.06, p = 0.11). Sex did not moderate these associations (p > 0.05). Non-social autistic traits are stronger predictors of anxiety symptoms than social traits in autistic adults. Increased attention to restricted repetitive behaviors should be given to improve current support programs for autistic adults with anxiety and to identify autistic individuals at risk.

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11. Lee GT, Hu X, Liu Y, Ren Y. Effects of Video Modeling on the Acquisition, Maintenance, and Generalization of Playing with Imaginary Objects in Children with Autism Spectrum Disorder. Behav Modif. 2020 : 145445520939856.

Many children with autism spectrum disorder (ASD) do not have symbolic play skills. One type of symbolic play involves playing with imaginary objects, in which a child displays play actions without actual objects. The purpose of this study was to evaluate the effects of video modeling on the acquisition, maintenance, and generalization of playing with imaginary objects in young children with ASD. Three male Chinese children (aged 4-5 years) with ASD participated in this study. A multiple-probe across three behaviors design was used. The results indicated that video modeling was effective in establishing and maintaining target symbolic play behaviors for the three children. Generalization to untaught imaginary play activities occurred in all three children.

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12. Lee V, Duku E, Zwaigenbaum L, Bennett T, Szatmari P, Elsabbagh M, Kerns C, Mirenda P, Smith IM, Ungar WJ, Vaillancourt T, Volden J, Waddell C, Zaidman-Zait A, Thompson A, Georgiades S. Temperament influences the relationship between symptom severity and adaptive functioning in children with autism spectrum disorder. Autism. 2020 : 1362361320933048.

Temperament is often thought of as behavioural traits that are relatively stable over time but can vary between individuals. Children diagnosed with autism spectrum disorder are often characterized as having ’reactive’ and ’negative’ temperaments when compared to same-aged peers with or without disabilities, which can negatively impact the development of adaptive functioning skills but little is known about variations of temperament between individual children diagnosed with autism spectrum disorder. This study aimed to (a) explore the variation of individual temperament traits within a sample of school-aged children with autism spectrum disorder to determine whether subgroups with similar trait profiles emerge and (b) examine whether temperament influences the relationship between autism symptoms and adaptive functioning outcomes. Results from our dataset suggest that children diagnosed with autism spectrum disorder fit under two profiles : ’even’ and ’reactive’. Furthermore, our analysis shows that temperament can influence the impact of increasing symptom severity on adaptive functioning skills in children with autism spectrum disorder. Study findings highlight the importance of considering temperament when trying to understand the individual differences that influence the development of functioning and developmental outcomes in children with autism spectrum disorder.

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13. Malihi M, Nguyen J, Cardy RE, Eldon S, Petta C, Kushki A. Short report : Evaluating the safety and usability of head-mounted virtual reality compared to monitor-displayed video for children with autism spectrum disorder. Autism. 2020 : 1362361320934214.

This study investigated the safety and usability of a virtual reality experience for children with autism spectrum disorder in a laboratory setting. In our study, the negative effects of head-mounted display-virtual reality were similar to monitor-displayed video watching. At the same time, the participants indicated that the head-mounted display-virtual reality experience provided improved realism and sense of presence. This study is a first step in understanding the impact of head-mounted display on children with autism spectrum disorder.

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14. Panossian C, Lyons-Wall P, Whitehouse A, Oddy WH, Lo J, Scott J, O’Sullivan TA. Young Adults with High Autistic-Like Traits Displayed Lower Food Variety and Diet Quality in Childhood. J Autism Dev Disord. 2020.

This study explored the association between autistic-like traits in young adults and dietary intake in early childhood in the Gen2 Raine Study cohort. Data were available from 811 participants at years 1, 2 and 3 for the assessment of dietary intake, and at year 20 for measurement of autistic-like traits. Results showed as autistic-like traits increased, total food variety, core food variety and dairy variety decreased (p < 0.05), with a lower consumption of citrus fruits and yoghurt (both p = 0.04). As autistic-like traits increased, diet quality decreased, this trend was significant at 2 years (p = 0.024). Our results suggest that young adults with higher autistic-like traits were more likely to have had lower food variety and diet quality in early childhood.

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15. Parvataneni T, Srinivas S, Shah K, Patel RS. Perspective on Melatonin Use for Sleep Problems in Autism and Attention-Deficit Hyperactivity Disorder : A Systematic Review of Randomized Clinical Trials. Cureus. 2020 ; 12(5) : e8335.

Melatonin is a hormone produced by the pineal gland and is available over the counter for treating sleep problems in the pediatric population. We conducted a systematic review of randomized clinical trials (RCTs) on MEDLINE and included six studies that met our inclusion criteria. RCTs were conducted in patients from two to 18 years of age with a diagnostic and statistical manual of mental disorders (DSM)-IV diagnosis of autism spectrum disease (ASD) and/or attention-deficit hyperactivity disorder (ADHD) in both short-term and long-term RCTs ranging from eight-week to 52-week studies. The mean difference in the children’s sleep disorder showed statistically significant improvement in sleep duration and sleep latency onset compared to the placebo. Overall, a high response rate was observed in the melatonin group compared to the placebo in treating sleep problems in children. Melatonin is a well-tolerated and safe medication in the dose range of 2-10 mg/day in the child and adolescent population.

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16. Reichova A, Bacova Z, Bukatova S, Kokavcova M, Meliskova V, Frimmel K, Ostatnikova D, Bakos J. Abnormal neuronal morphology and altered synaptic proteins are restored by oxytocin in autism-related SHANK3 deficient model. Molecular and cellular endocrinology. 2020 : 110924.

Oxytocin has been suggested as a potential therapeutic agent in autism and other neuropsychiatric conditions. Although, the link between the deficit in "SH3 domain and ankyrin repeat containing protein 3" (SHANK3) and autism spectrum disorders is highly studied topic, developmental mechanisms are still poorly understood. In this study, we clearly confirm that SHANK3 deficiency is accompanied with abnormalities in neurite number and length, which are reversed by oxytocin treatment (1 μM, 48h) in primary hippocampal neurons. Transient silencing for the SHANK3 gene (siSHANK3) in neuron-like cell line (SH-SY5Y) revealed a significant decrease in the expression levels of Neurexins 1α, 1β, 2α and 2β. Oxytocin treatment compensated reduced levels of Synapsin I, PSD95 and Neuroligin 3 in siSHANK3 cells suggesting a marked potential of oxytocin to ameliorate defects present in conditions of SHANK3 deficiency. Further analysis of hippocampal tissue revealed that oxytocin application (0.1 μg/μl, s.c. at P2 and P3 day) affects levels of synaptic proteins and GTPases in both WT and SHANK3 deficient mice on day P5. Oxytocin stimulated the mRNA expression of RhoB and Rac1 in both WT and SHANK3 deficient mice. Our data suggest that autism relevant synaptic pathologies could be reversed by oxytocin treatment.

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17. Simhal AK, Carpenter KLH, Nadeem S, Kurtzberg J, Song A, Tannenbaum A, Sapiro G, Dawson G. Measuring robustness of brain networks in autism spectrum disorder with Ricci curvature. Sci Rep. 2020 ; 10(1) : 10819.

Ollivier-Ricci curvature is a method for measuring the robustness of connections in a network. In this work, we use curvature to measure changes in robustness of brain networks in children with autism spectrum disorder (ASD). In an open label clinical trials, participants with ASD were administered a single infusion of autologous umbilical cord blood and, as part of their clinical outcome measures, were imaged with diffusion MRI before and after the infusion. By using Ricci curvature to measure changes in robustness, we quantified both local and global changes in the brain networks and their potential relationship with the infusion. Our results find changes in the curvature of the connections between regions associated with ASD that were not detected via traditional brain network analysis.

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18. Smith TF, Kaczorowski JA, Acosta MT. An executive functioning perspective in neurofibromatosis type 1 : from ADHD and autism spectrum disorder to research domains. Child’s nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 2020.

PURPOSE : Neurofibromatosis type 1 (NF1) is a rare monogenic disorder associated with executive function (EF) deficits and heightened risk for attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). The goal of this paper is to understand how EFs provide a common foundation to understand vulnerabilities for ADHD and ASD within NF1. METHODS : A literature review and synthesis was conducted. RESULTS : EF difficulties in working memory, inhibitory control, cognitive flexibility, and planning are evident in NF1, ADHD, and ASD. However, relatively little is known about the heterogeneity of EFs and ADHD and ASD outcomes in NF1. Assessment of ADHD and ASD in NF1 is based on behavioral symptoms without understanding neurobiological contributions. Recent efforts are promoting the use of dimensional and multidisciplinary methods to better understand normal and abnormal behavior, including integrating information from genetics to self-report measures. CONCLUSION : NF1 is a monogenic disease with well-developed molecular and phenotypic research as well as complementary animal models. NF1 presents an excellent opportunity to advance our understanding of the neurobiological impact of known pathogenic variation in normal and abnormal neural pathways implicated in human psychopathology. EFs are core features of NF1, ADHD, and ASD, and these neurodevelopmental outcomes are highly prevalent in NF1. We propose a multilevel approach for understanding EFs in patients with NF1.This is essential to advance targeted interventions for NF1 patients and to advance the exciting field of research in this condition.

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19. Wadhera T, Kakkar D. Conditional entropy approach to analyze cognitive dynamics in autism spectrum disorder. Neurological research. 2020 : 1-10.

OBJECTIVE : Preliminary evidence has documented functional connectivity during the cognitive task in Autism Spectrum Disorder (ASD). However, evidence of effective neural connectivity with respect to information flow between different brain regions during complex tasks is missing. The present paper aims to provide insights into the cognition-based neural dynamics reflecting information exchange in brain network under cognitive load in ASD. METHODS : Twenty-two individuals with ASD (8-18 years) and 18 Typically Developing (TD ; 6-17 years) individuals participated in the cognitive task of differentiating risky from neutral stimuli. The Conditional Entropy (CE) technique is applied upon task-activated Electroencephalogram (EEG) to measure the causal influence of the activity of brain’s one Region of interest (ROI) over another. RESULTS : A higher CE in frontal ROI and left hemisphere reflected atypical brain complexity in ASD. The absence of causal effect, poor Coupling Strength (CS ; measured using CE) and hemisphere lateralization is responsible for lower cognition in ASD. However, the persistent information exchange during the task reflects the existence of certain alternative paths when other direct paths remained disconnected due to cognitive impairment. The Support Vector Machine (SVM) classifier showed that CE can identify the atypical information exchange with an accuracy of 96.89% and area under curve = 0.987. DISCUSSION : The statistical results reflect a significant change in the information flow between different ROIs in ASD. A correlation of CS and behavioral domain suggests that the cognitive decline could be predicted from the connectivity patterns. Thus, CS could be a potential biomarker to identify cognitive status at a higher discrimination rate in ASD.

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20. Yu R, Wu Z, Wang S, Zhang M, Zhou G, Li B. Isolation, identification and characterization of propionic acid bacteria associated with autistic spectrum disorder. Microbial pathogenesis. 2020 : 104371.

Autism spectrum disorder (ASD) seriously affects children’s health. Recently, propionic acid (PA) has been reported to play a significant role in the formation of ASD. In this study, we investigated the community structure of PA-related bacteria in healthy and ASD children by isolation and culture, while a group of representative PA-related bacteria were identified and characterized based on colony morphological observation, physiological and biochemical tests, as well as living/dead cells staining analysis and 16S rRNA gene sequencing. The results showed that the number of PA-related bacteria in healthy children was >100-fold higher than that in ASD children, while compared to healthy children, greater diversity was found in PA-associated bacteria from ASD children. The sensitivity of the representative strains to PA was affected by bacterial species, PA concentration and incubation time. The decrease of pH value was found in PA-resistant Lactobacillus plantarum strain 6-1 but not in PA-sensitive Enterococcus lactis strain 4-1, while biofilm formation of both strains were unaffected by PA. Furthermore, PA inhibited the propagation of the two selected bacteria rather than killed them, while the greater inhibitory effect was observed on strain 4-1. Overall, the result is of great significance for revealing the role of PA-related bacteria in development of ASD.

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