Pubmed du 25/05/20

lundi 25 mai 2020

1. Amoss RT, Leong T, Evans AN, Ousley O, Herrington JD, Lecavalier L, Goodwin MS, Hofmann SG, Scahill L. A Pilot Study of Cardiovascular Reactivity in Children With Autism Spectrum Disorder. Seminars in pediatric neurology. 2020 ; 34 : 100807.

In preparation for a larger case-control study of children with autism spectrum disorder (ASD) and anxiety, we conducted a pilot study using a noninvasive electrocardiographic device to measure cardiovascular reactivity in 10 children (age range 9-14) with ASD. The 45-minute procedure included 6 conditions : baseline rest, an interview about school, interim rest, an unfair computerized ball-toss game followed by a fair version of the game, and a final rest. Data were successfully collected for 95% of all conditions. Omnibus Skillings-Mack tests suggested that heart rate variability variables including mean heart rate, mean RR interval, and root mean square of successive differences showed statistically significant variation across conditions. The procedure appears feasible and may be an informative biomarker of anxiety in ASD.

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2. Bast N, Mason L, Freitag CM, Smith T, Portugal AM, Poustka L, Banaschewski T, Johnson M. Saccade dysmetria indicates attenuated visual exploration in autism spectrum disorder. J Child Psychol Psychiatry. 2020.

BACKGROUND : Visual exploration in autism spectrum disorder (ASD) is characterized by attenuated social attention. The underlying oculomotor function during visual exploration is understudied, whereas oculomotor function during restricted viewing suggested saccade dysmetria in ASD by altered pontocerebellar motor modulation. METHODS : Oculomotor function was recorded using remote eye tracking in 142 ASD participants and 142 matched neurotypical controls during free viewing of naturalistic videos with and without human content. The sample was heterogenous concerning age (6-30 years), cognitive ability (60-140 IQ), and male/female ratio (3:1). Oculomotor function was defined as saccade, fixation, and pupil-dilation features that were compared between groups in linear mixed models. Oculomotor function was investigated as ASD classifier and features were correlated with clinical measures. RESULTS : We observed decreased saccade duration (∆M = -0.50, CI [-0.21, -0.78]) and amplitude (∆M = -0.42, CI [-0.12, -0.72]), which was independent of human video content. We observed null findings concerning fixation and pupil-dilation features (POWER = .81). Oculomotor function is a valid ASD classifier comparable to social attention concerning discriminative power. Within ASD, saccade features correlated with measures of restricted and repetitive behavior. CONCLUSIONS : We conclude saccade dysmetria as ASD oculomotor phenotype relevant to visual exploration. Decreased saccade amplitude and duration indicate spatially clustered fixations that attenuate visual exploration and emphasize endogenous over exogenous attention. We propose altered pontocerebellar motor modulation as underlying mechanism that contributes to atypical (oculo-)motor coordination and attention function in ASD.

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3. Bent S, Wahlberg J, Chen Y, Widjaja F, McDonald MG, Hendren RL. Quality of Life Among School-Age Children With Autism : The Oak Hill School Outcomes Study. Seminars in pediatric neurology. 2020 ; 34 : 100808.

Prior studies have documented a lower quality of life (QOL) in children with autism spectrum disorder (ASD) compared to typically developing peers, but few studies have examined the trajectory of QOL over time in the same population. We conducted a 2-year cohort study in 29 children attending a specialized school for ASD with quarterly measures of parent-rated QOL as well as parent and teacher measures of behavior and social skills to determine the trajectory of change in QOL and predictors of change. The average change in QOL was constant (no change over time), but there was substantial variation with some students showing significant gains and others showing declines. Exploratory analyses revealed that improvements in behavior and social skills were greater (nonsignificantly) among children with improvements in QOL. Children with improved QOL were also younger and had a lower initial symptom burden. This study suggests that early intervention programs that provide social skills and behavioral management strategies may improve QOL in children with ASD. The study also highlights the need to develop and study novel, qualitative measures of QOL in this population.

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4. Dekhil O, Ali M, Haweel R, Elnakib Y, Ghazal M, Hajjdiab H, Fraiwan L, Shalaby A, Soliman A, Mahmoud A, Keynton R, Casanova MF, Barnes G, El-Baz A. A Comprehensive Framework for Differentiating Autism Spectrum Disorder From Neurotypicals by Fusing Structural MRI and Resting State Functional MRI. Seminars in pediatric neurology. 2020 ; 34 : 100805.

Autism spectrum disorder is a neurodevelopmental disorder characterized by impaired social abilities and communication difficulties. The golden standard for autism diagnosis in research rely on behavioral features, for example, the autism diagnosis observation schedule, the Autism Diagnostic Interview-Revised. In this study we introduce a computer-aided diagnosis system that uses features from structural MRI (sMRI) and resting state functional MRI (fMRI) to help predict an autism diagnosis by clinicians. The proposed system is capable of parcellating brain regions to show which areas are most likely affected by autism related abnormalities and thus help in targeting potential therapeutic interventions. When tested on 18 data sets (n = 1060) from the ABIDE consortium, our system was able to achieve high accuracy (sMRI 0.75-1.00 ; fMRI 0.79-1.00), sensitivity (sMRI 0.73-1.00 ; fMRI 0.78-1.00), and specificity (sMRI 0.78-1.00 ; fMRI 0.79-1.00). The proposed system could be considered an important step toward helping physicians interpret results of neuroimaging studies and personalize treatment options. To the best of our knowledge, this work is the first to combine features from structural and functional MRI, use them for personalized diagnosis and achieve high accuracies on a relatively large population.

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5. Grzadzinski R, Janvier D, Kim SH. Recent Developments in Treatment Outcome Measures for Young Children With Autism Spectrum Disorder (ASD). Seminars in pediatric neurology. 2020 ; 34 : 100806.

Significant advancements have been made in early intervention programs for children with Autism spectrum disorder (ASD). However, measuring treatment response for children with ASD is difficult due to the heterogeneity of changes in symptoms, which can be subtle, especially over a short period of time. Here we outline the challenge of evaluating treatment response with currently available measures as well as newly developed or refined measures that may be useful in clinical trials for young children with ASD. Continued development of treatment outcome measures will help the field identify and compare efficacious interventions and tailor treatments for children with ASD.

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6. Kamand M, Ilieva M, Forsberg SL, Thomassen M, Fex Svenningsen Å, Holst B, Meyer M, Michel TM. Generation of human induced pluripotent stem cells (SDUKIi002-A) from a 22-year-old male diagnosed with autism spectrum disorder. Stem cell research. 2020 ; 46 : 101834.

Autism spectrum disorders are characterized by impaired social interaction and communication as well as restricted and repetitive interests and behavior. Increasing evidence points to an early-stage disruption of brain development. A human-induced pluripotent stem cell line (SDUKIi002-A) was created from skin fibroblasts from a 22-year old autistic male identified in the "FYNEN-cohort" of Southern Denmark. Reprogramming of the fibroblasts was performed using integration-free episomal plasmids. Further characterization confirmed the expression of pluripotency markers, differentiation into the three germ layers, absence of chromosomal abnormalities, and mycoplasma infection.

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7. Kreiman BL, Boles RG. State of the Art of Genetic Testing for Patients With Autism : A Practical Guide for Clinicians. Seminars in pediatric neurology. 2020 ; 34 : 100804.

The explosion in knowledge, technology, and clinical capabilities regarding genetics and genetic testing has expanded greatly in recent years, and these gains have rapidly been applied to individuals with autism spectrum disorder (ASD). However, most clinicians are unaware or confused in regards to whom to test, what tests to order, and how testing might alter management and improve outcomes. This review will address these issues. Research shows that ASD is highly genetic, and while monogenic cases are common, most patients have multiple genes interacting in disease pathogenesis. However, as genetics dictates disease risk, not outcomes, this does not exclude environmental factors. Clinically actionable genetics test results can be found across the phenotypically-heterogeneous ASD spectrum ; thus recommendations are to test everyone. As ASD is also highly genetically heterogeneous, testing should address a wide range of variant types, including both large (historically detected by microarray) and small (detected by sequencing), at least across all genes (exome). Additional specialized testing important in ASD diagnostics includes fragile X, mitochondrial DNA, and pharmacogenetics ; the latter often informative for which drug to order, at which dose. Recently, whole genome sequencing has emerged as a favorite since all of the above testing, and more, can be performed at a lower total cost than individual test orders. Trio (child plus parents) sequencing is often indicated, especially in more "severe" cases in order to find new (de novo) variants not present in either parent. Additionally, Angelman syndrome testing should be considered in appropriate cases. Current testing provides a precise diagnosis in many cases with ASD. Beyond diagnosis, genetic testing can oftentimes help elucidate potentially treatable risk factors that predispose the individual patient to develop disease. In this clinician’s experience (RGB), this information leads to improved outcomes in as many as one-half of cases. Clinical improvement can occur in common associated ASD symptoms (attention, behavior, and anxiety) and/or in general systemtic symptoms (nausea, fatigue, pain), as demonstrated in brief case reports. Practical guidance is provided regarding assisting clinicians to choose the appropriate test(s) and laboratory, as well as how to get testing paid for. Recent cost reductions now allow for most families to benefit from genetic testing.

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8. Rambault A, Benchaïba S, Tobie D, Roberti H, Claire R, Malvy J. [Catatonia and autism spectrum disorder]. Soins Pediatrie, puericulture. 2020 ; 41(313) : 44-6.

Catatonia and its treatment in patients with autism spectrum disorders are poorly documented in the child psychiatry literature. Étienne is a 13-year-and-10-months-old adolescent who was diagnosed with autism at an early age. He presents recurrent episodes of stuporous catatonia aggravating major motor agitation type behavioural disorders.

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9. Vargason T, Grivas G, Hollowood-Jones KL, Hahn J. Towards a Multivariate Biomarker-Based Diagnosis of Autism Spectrum Disorder : Review and Discussion of Recent Advancements. Seminars in pediatric neurology. 2020 ; 34 : 100803.

An ever-evolving understanding of autism spectrum disorder (ASD) pathophysiology necessitates that diagnostic standards also evolve from being observation-based to include quantifiable clinical measurements. The multisystem nature of ASD motivates the use of multivariate methods of statistical analysis over common univariate approaches for discovering clinical biomarkers relevant to this goal. In addition to characterization of important behavioral patterns for improving current diagnostic instruments, multivariate analyses to date have allowed for thorough investigation of neuroimaging-based, genetic, and metabolic abnormalities in individuals with ASD. This review highlights current research using multivariate statistical analyses to quantify the value of these behavioral and physiological markers for ASD diagnosis. A detailed discussion of a blood-based diagnostic test for ASD using specific metabolite concentrations is also provided. The advancement of ASD biomarker research promises to provide earlier and more accurate diagnoses of the disorder.

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10. Young S, Hollingdale J, Absoud M, Bolton P, Branney P, Colley W, Craze E, Dave M, Deeley Q, Farrag E, Gudjonsson G, Hill P, Liang HL, Murphy C, Mackintosh P, Murin M, O’Regan F, Ougrin D, Rios P, Stover N, Taylor E, Woodhouse E. Guidance for identification and treatment of individuals with attention deficit/hyperactivity disorder and autism spectrum disorder based upon expert consensus. BMC medicine. 2020 ; 18(1) : 146.

BACKGROUND : Individuals with co-occurring hyperactivity disorder/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) can have complex presentations that may complicate diagnosis and treatment. There are established guidelines with regard to the identification and treatment of ADHD and ASD as independent conditions. However, ADHD and ASD were not formally recognised diagnostically as co-occurring conditions until the Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) was published in 2013. Hence, awareness and understanding of both conditions when they co-occur is less established and there is little guidance in the clinical literature. This has led to uncertainty among healthcare practitioners when working with children, young people and adults who present with co-existing ADHD and ASD. The United Kingdom ADHD Partnership (UKAP) therefore convened a meeting of professional experts that aimed to address this gap and reach expert consensus on the topic that will aid healthcare practitioners and allied professionals when working with this complex and vulnerable population. METHOD : UK experts from multiple disciplines in the fields of ADHD and ASD convened in London in December 2017. The meeting provided the opportunity to address the complexities of ADHD and ASD as a co-occurring presentation from different perspectives and included presentations, discussion and group work. The authors considered the clinical challenges of working with this complex group of individuals, producing a consensus for a unified approach when working with male and female, children, adolescents and adults with co-occurring ADHD and ASD. This was written up, circulated and endorsed by all authors. RESULTS : The authors reached a consensus of practical recommendations for working across the lifespan with males and females with ADHD and ASD. Consensus was reached on topics of (1) identification and assessment using rating scales, clinical diagnostic interviews and objective supporting assessments ; outcomes of assessment, including standards of clinical reporting ; (2) non-pharmacological interventions and care management, including psychoeducation, carer interventions/carer training, behavioural/environmental and Cognitive Behavioural Therapy (CBT) approaches ; and multi-agency liaison, including educational interventions, career advice, occupational skills and training, and (3) pharmacological treatments. CONCLUSIONS : The guidance and practice recommendations (Tables 1, 4, 5, 7, 8 and 10) will support healthcare practitioners and allied professionals to meet the needs of this complex group from a multidisciplinary perspective. Further research is needed to enhance our understanding of the diagnosis, treatment and management of individuals presenting with comorbid ADHD and ASD.

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11. Yu X, Wang X, Sakano H, Zorio DAR, Wang Y. Dynamics of the Fragile X Mental Retardation Protein Correlates with Cellular and Synaptic Properties in Primary Auditory Neurons following Afferent Deprivation. J Comp Neurol. 2020.

Afferent activity dynamically regulates neuronal properties and connectivity in the central nervous system. The Fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates cellular and synaptic properties in an activity-dependent manner. Whether and how FMRP level and localization are regulated by afferent input remains sparsely examined and how such regulation is associated with neuronal response to changes in sensory input is unknown. We characterized changes in FMRP level and localization in the chicken nucleus magnocellularis (NM), a primary cochlear nucleus, following afferent deprivation by unilateral cochlea removal. We observed rapid (within 2 hours) aggregation of FMRP immunoreactivity into large granular structures in a subset of deafferented NM neurons. Neurons that exhibited persistent FMRP aggregation at 12-24 hours eventually lost cytoplasmic Nissl substance, indicating cell death. A week later, FMRP expression in surviving neurons regained its homeostasis, with a slightly reduced immunostaining intensity and enhanced heterogeneity. Correlation analyses under the homeostatic status (7-14 days) revealed that neurons expressing relatively more FMRP had a higher capability of maintaining cell body size and ribosomal activity, as well as a better ability to detach inactive presynaptic terminals. Additionally, the intensity of an inhibitory postsynaptic protein, gephyrin, was reduced following deafferentation and was positively correlated with FMRP intensity, implicating an involvement of FMRP in synaptic dynamics in response to reduced afferent inputs. Collectively, this study demonstrates that afferent input regulates FMRP expression and localization in ways associated with multiple types of neuronal responses and synaptic rearrangements. This article is protected by copyright. All rights reserved.

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12. Zachor DA, Ben-Itzchak E. From Toddlerhood to Adolescence, Trajectories and Predictors of Outcome : Long-Term Follow-Up Study in Autism Spectrum Disorder. Autism Res. 2020.

This study is one of a very few prospective long-term studies in autism spectrum disorder (ASD). The study compared outcome trajectories in three adolescent groups (T2) : "best outcome" (BO, n = 11) did not meet cut-off points for ASD and IQ scores ≥85 ; high functioning (HF-ASD, n = 14) ; and lower functioning (LF-ASD, n = 43). Additionally, the study searched for characteristics at toddlerhood (T1) that may predict belonging to the above groups. The study included 68 adolescents (63 males) diagnosed with ASD at toddlerhood (mean age : 13:10 years), mean follow-up time was 11:7 years. Participants underwent comprehensive assessments at T1 and T2. Different trajectories were found for the three defined groups. The BO group improved significantly in cognitive ability, autism severity, and adaptive skills in comparison to no improvement for the LF-ASD group or partial progress for the HF-ASD group. At toddlerhood, better cognition and less severe autism social affect symptoms were generally associated with a better outcome. Early social behaviors including better "pointing," "facial expression directed to others," "showing," and "response to joint attention" were associated with membership in the BO group. In addition, the BO group had the lowest prevalence of significant T2 inattention and anxiety symptoms. No significant differences between the three outcome groups were noted in the birth and prevalence of medical problems. Higher cognitive ability and better T1 showing and pointing behaviors predicted better outcome. The study points to the change in autism severity over time and to the prognostic value of early developmental abilities, social engagement behaviors, and the existence of comorbidities. LAY SUMMARY : This long-term study compared characteristics of toddlers diagnosed with autism spectrum disorder (ASD) in three outcome groups in adolescence : best outcome (BO-average IQ/not meeting criteria for ASD), high-functioning ASD, and low-functioning ASD (LF-ASD). At toddlerhood, the BO group displayed less severe autism symptoms, mostly in sharing interests, compared to the LF-ASD group. The BO group had fewer inattention and anxiety symptoms than the two ASD groups. Additionally, early cognitive level and social engagement behaviors predicted outcome in ASD.

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13. Zou R, Wang Y, Duan M, Guo M, Zhang Q, Zheng H. Dysbiosis of Gut Fungal Microbiota in Children with Autism Spectrum Disorders. J Autism Dev Disord. 2020.

In this study, we tested the feces of children with ASD and those of healthy children, and the overall changing of the gut fungal community was observed in ASD children compared with controls. However, there were no abundant fungi populations showed significant variations between the ASD and Control group both at phylum and class level. Among the 507 genera identified, Saccharomyces and Aspergillus showed significant differences between ASD (59.07%) and Control (40.36%), indicating that they may be involved in the abnormal gut fungal community structure of ASD. When analyzed at the species level, a decreased abundance in Aspergillus versicolor was observed while Saccharomyces cerevisiae was increased in children with ASD relative to controls. Overall, this study characterized the fungal microbiota profile of children with ASD and identified potential diagnostic species closely related to the immune response in ASD.

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