Pubmed du 29/03/20

dimanche 29 mars 2020

1. Brosnan M. An Exploratory Study of a Dimensional Assessment of the Diagnostic Criteria for Autism. J Autism Dev Disord. 2020.

Prevalence rates of autism based upon child samples have shown a consistent increase over the past three decades, suggesting that many autistic adults are undiagnosed. Adult diagnostic pathways typically are initiated with measures of autistic-like traits. Whilst autistic-like traits represent a continuous dimension across the general population, autism is a categorical diagnosis and the relationship between the two is unclear. A self-report dimensional reflection upon the two diagnostic criteria for autism was developed and reflected upon by 1076 participants embedded within two online surveys. Those with an informal (self) diagnosis of autism self-reported comparable social difficulties but fewer restricted and repetitive behaviour difficulties than those with a formal diagnosis of autism. The new items also significantly correlated with autistic-like traits.

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2. Cantin-Garside KD, Kong Z, White SW, Antezana L, Kim S, Nussbaum MA. Detecting and Classifying Self-injurious Behavior in Autism Spectrum Disorder Using Machine Learning Techniques. J Autism Dev Disord. 2020.

Traditional self-injurious behavior (SIB) management can place compliance demands on the caregiver and have low ecological validity and accuracy. To support an SIB monitoring system for autism spectrum disorder (ASD), we evaluated machine learning methods for detecting and distinguishing diverse SIB types. SIB episodes were captured with body-worn accelerometers from children with ASD and SIB. The highest detection accuracy was found with k-nearest neighbors and support vector machines (up to 99.1% for individuals and 94.6% for grouped participants), and classification efficiency was quite high (offline processing at 0.1 ms/observation). Our results provide an initial step toward creating a continuous and objective smart SIB monitoring system, which could in turn facilitate the future care of a pervasive concern in ASD.

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3. Christopher K, Bishop S, Carpenter LA, Warren Z, Kanne S. The Implications of Parent-Reported Emotional and Behavioral Problems on the Modified Checklist for Autism in Toddlers. J Autism Dev Disord. 2020.

Studies have shown that Autism Spectrum Disorder (ASD) screening and diagnostic instruments may be affected by the presence of emotional and behavior problems (EBPs). This study assessed the impact of EBPs on the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F). Participants included 290 children, 18-48 months of age, referred for ASD-related concerns. Those diagnosed with ASD had significantly lower externalizing EBPs compared to those who were not diagnosed with ASD. More externalizing symptoms and younger age were significantly predictive of an M-CHAT-R/F final score. Sensitivity and specificity was impacted by the age of the child. These results suggest that combining measures that assess EBPs and autism core symptoms may improve accuracy in this referred population.

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4. Cordova M, Shada K, Demeter DV, Doyle O, Miranda-Dominguez O, Perrone A, Schifsky E, Graham A, Fombonne E, Langhorst B, Nigg J, Fair DA, Feczko E. Heterogeneity of executive function revealed by a functional random forest approach across ADHD and ASD. Neuroimage Clin. 2020 ; 26 : 102245.

BACKGROUND : Those with autism spectrum disorder (ASD) and/or attention-deficit-hyperactivity disorder (ADHD) exhibit symptoms of hyperactivity and inattention, causing significant hardships for families and society. A potential mechanism involved in these conditions is atypical executive function (EF). Inconsistent findings highlight that EF features may be shared or distinct across ADHD and ASD. With ADHD and ASD each also being heterogeneous, we hypothesized that there may be nested subgroups across disorders with shared or unique underlying mechanisms. METHODS : Participants (N = 130) included adolescents aged 7-16 with ASD (n = 64) and ADHD (n = 66). Typically developing (TD) participants (n = 28) were included for a comparative secondary sub-group analysis. Parents completed the K-SADS and youth completed an extended battery of executive and other cognitive measures. A two stage hybrid machine learning tool called functional random forest (FRF) was applied as a classification approach and then subsequently to subgroup identification. We input 43 EF variables to the classification step, a supervised random forest procedure in which the features estimated either hyperactive or inattentive ADHD symptoms per model. The FRF then produced proximity matrices and identified optimal subgroups via the infomap algorithm (a type of community detection derived from graph theory). Resting state functional connectivity MRI (rs-fMRI) was used to evaluate the neurobiological validity of the resulting subgroups. RESULTS : Both hyperactive (Mean absolute error (MAE) = 0.72, Null model MAE = 0.8826, (t(58) = -4.9, p < .001) and inattentive (MAE = 0.7, Null model MAE = 0.85, t(58) = -4.4, p < .001) symptoms were predicted better than chance by the EF features selected. Subgroup identification was robust (Hyperactive : Q = 0.2356, p < .001 ; Inattentive : Q = 0.2350, p < .001). Two subgroups representing severe and mild symptomology were identified for each symptom domain. Neuroimaging data revealed that the subgroups and TD participants significantly differed within and between multiple functional brain networks, but no consistent "severity" patterns of over or under connectivity were observed between subgroups and TD. CONCLUSION : The FRF estimated hyperactive/inattentive symptoms and identified 2 distinct subgroups per model, revealing distinct neurocognitive profiles of Severe and Mild EF performance per model. Differences in functional connectivity between subgroups did not appear to follow a severity pattern based on symptom expression, suggesting a more complex mechanistic interaction that cannot be attributed to symptom presentation alone.

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5. De Groot K. Non-Clinical Autistic Traits Correlate With Social and Ethical but Not With Financial and Recreational Risk-Taking. Front Psychol. 2020 ; 11 : 360.

Previous research into uncertain and risky decision-making in autism spectrum disorder (ASD) has been inconclusive, with some studies reporting less uncertain and risky decisions by persons with ASD compared to neurotypicals, but other studies failing to find such effects. A possible explanation for these inconsistent findings is that aberrant decision-making in ASD is domain-specific, and only manifests itself in domains related to autism symptomatology. The present study examines this premise by correlating self-reported autistic traits to individuals’ intention to engage in risky behaviours, their perception of how risky these behaviours are, and the amount of benefit they expect to obtain from engaging in them ; all for five separate domains of decision-making : social, ethical, recreational, health/safety, and financial. In line with the hypotheses, persons with higher autistic traits reported reduced intention to engage in risky social behaviours and increased intention to engage in risky ethical behaviours. Furthermore, a positive correlation was found between autistic traits and risk perception in the social domain, indicating that persons with higher autistic traits perceive social behaviours as riskier than do persons with lower autistic traits. Correlations between autistic traits and individuals’ intention to engage in risky recreational and financial behaviours were small, and supported the null hypothesis (as shown by Bayes Factors). Given that most studies on uncertain and risky decision-making take place in a financial context, the present results could explain previous inconsistent findings on decision-making in ASD. Therefore, future studies should also examine decision-making outside the financial realm.

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6. Haify SN, Botta-Orfila T, Hukema RK, Tartaglia GG. In silico, in vitro, and in vivo Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome. Frontiers in molecular biosciences. 2020 ; 7 : 31.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative monogenetic disorder affecting carriers of premutation (PM) forms of the FMR1 gene, resulting in a progressive development of tremors, ataxia, and neuropsychological problems. This highly disabling disease is quite common in the general population with an estimation of about 20 million PM carriers worldwide. The chances of developing FXTAS increase dramatically with age, with about 45% of male carriers over the age of 50 being affected. Both the gene and pathogenic trigger, a mutant expansion of CGG RNA, causing FXTAS are known. This makes it an interesting disease to develop targeted therapeutic interventions for. Yet, no such interventions are available at this moment. Here we discuss in silico, in vitro, and in vivo approaches and how they have been used to identify the molecular determinants of FXTAS pathology. These approaches have yielded substantial information about FXTAS pathology and, consequently, many markers have emerged to play a key role in understanding the disease mechanism. Integration of the different approaches is expected to provide crucial information about the value of these markers as either therapeutic target or biomarker, essential to monitor therapeutic interventions in the future.

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7. Kilburn TR, Sorensen MJ, Thastum M, Rapee RM, Rask CU, Arendt KB, Carlsen AH, Thomsen PH. Group Based Cognitive Behavioural Therapy for Anxiety in Children with Autism Spectrum Disorder : A Randomised Controlled Trial in a General Child Psychiatric Hospital Setting. J Autism Dev Disord. 2020.

Cognitive Behavioural Therapy (CBT) programs adapted to children with Autism Spectrum Disorder (ASD) effectively reduce anxiety when run in university clinics. Forty-nine children aged 8-14 years participated in a waitlist controlled study in a general child psychiatric hospital setting. Post-treatment 30% of the children were free of their primary anxiety diagnoses and 5% were free of all anxiety diagnoses. No statistically significant difference between the two trial conditions were found on primary outcomes. However, statistically significant differences were found on secondary outcomes indicating clinically meaningful treatment responses. Together with high program satisfaction this study shows the CBT program to be feasible and potentially efficacious in treating anxiety in children with ASD in a general child psychiatric hospital setting.

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8. Kostiukow A, Poniewierski P, Daroszewski P, Samborski W. Gastrointestinal disorders in children with autism spectrum disorder. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego. 2020 ; 48(283) : 69-72.

Autism Spectrum Disorder (ASD) is characterized by limited, repetitive patterns of behavior, lack of interest, lack of activity, lack of communication and social interactions. Population studies show that the incidence of autism worldwide is steadily increasing. The review was based on literature research. It was analyzed 40 positions in bibliography according to gastrointestinal disorders in ASD. Clinical manifestations of gastrointestinal diseases in children with autism spectrum disorders may be different from neurotypical children. Most of the evidence suggests that gastrointestinal dysfunction is more common in ASD children than in the typically developing group. Diagnosis of gastrointestinal disorders in an autistic group of patients may be complicated and delayed. An important problem is their diagnosis, as most patients with autism are unable to inform their parents and/or carers about the suffering of abdominal pain or discomfort caused by bowel dysfunction. These symptoms may be a change in behavior : hyperactivity, anxiety, aggression, self-mutilation. Presence of gastrointestinal disorders raises the question of their possible association with the severity of symptoms of autism.

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9. Kostiukow A, Samborski W. The effectiveness of hyperbaric oxygen therapy (HBOT) in children with autism spectrum disorders. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego. 2020 ; 48(283) : 15-8.

Research based on neuro-imaging findings indicate the presence of cerebral hypoperfusion (decreased blood flow) in children with autism spectrum disorders (ASD). One of modern therapeutic methods that can counteract cerebral hypoperfusion in those children is hyperbaric oxygen therapy (HBOT). AIM : The aim of the present study was to examine whether a series of hyperbaric oxygen therapy sessions can improve selected psychosomatic parameters in children with ASD. MATERIALS AND METHODS : The study group comprised 35 boys and 4 girls with ASD, who undertook 40 HBOT sessions consisting of breathing hyperbaric oxygen (1.5 atm.). Each session lasted 60 min. The following questionnaire tests were used to assess the effects of the therapy : Clinical Global Impression Scale (CGIS), Autism Treatment Evaluation Checklist (ATEC), and Childhood Autism Rating Scale (CARS). RESULTS : Eight components of the ATEC and CARS scales as well as the CARS total score revealed statistically significant improvements. One out of all examined items - ATEC Speech/language/communication - "Can follow some commands" revealed a decline after the HBOT sessions (p = 0.0431). CONCLUSIONS : In younger children under study post-therapy improvements were found for the ATEC Sociability - "Does not imitate", ATEC Sensory/cognitive awareness - "Shows imagination", and ATEC Health/physical/behavior - "Sound-sensitive" items. In older children improvements were noted for ATEC Health/physical/behavior - "Obsessive speech" and CARS emotional response, adaptation to change, and total score.

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10. Li J, Lin X, Wang M, Hu Y, Xue K, Gu S, Lv L, Huang S, Xie W. Potential role of genomic imprinted genes and brain developmental related genes in autism. BMC medical genomics. 2020 ; 13(1) : 54.

BACKGROUND : Autism is a complex disease involving both environmental and genetic factors. Recent efforts have implicated the correlation of genomic imprinting and brain development in autism, however the pathogenesis of autism is not completely clear. Here, we used bioinformatic tools to provide a comprehensive analysis of the autism-related genes, genomic imprinted genes and the spatially and temporally differentially expressed genes of human brain, aiming to explore the relationship between autism, brain development and genomic imprinting. METHODS : This study analyzed the distribution correlation between autism-related genes and imprinted genes on chromosomes using sliding windows and statistical methods. The normal brains’ gene expression microarray data were reanalyzed to construct a spatio-temporal coordinate system of gene expression during brain development. Finally, we intersected the autism-related genes, imprinted genes and brain spatio-temporally differentially expressed genes for further analysis to find the major biological processes that these genes involved. RESULTS : We found a positive correlation between the autism-related genes’ and imprinted genes’ distribution on chromosomes. Through the analysis of the normal brain microarray data, we constructed a spatio-temporal coordinate system of gene expression during human brain development, and obtained 13 genes that are differentially expressed in the process of brain development, which are both autism-related genes and imprinted genes. Furthermore, enrichment analysis illustrated that these genes are mainly involved in the biological processes, such as gamma-aminobutyric acid signaling pathway, neuron recognition, learning or memory, and regulation of synaptic transmission. Bioinformatic analysis implied that imprinted genes regulate the development and behavior of the brain. And its own mutation or changes in the epigenetic modification state of the imprinted control region could lead to some diseases, indicating that imprinted genes and brain development play an important role in diagnosis and prognosis of autism. CONCLUSION : This study systematically correlates brain development and genomic imprinting with autism, which provides a new perspective for the study of genetic mechanisms of autism, and selected the potential candidate biomarkers for early diagnosis of autism in clinic.

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11. Lory C, Kadlaskar G, McNally Keehn R, Francis AL, Keehn B. Brief Report : Reduced Heart Rate Variability in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

Dysregulation of the autonomic nervous system (ANS), which can be indexed by heart rate variability (HRV), has been posited to contribute to core features of autism spectrum disorder (ASD). However, the relationship between ASD and HRV remains uncertain. We assessed tonic and phasic HRV of 21 children with ASD and 21 age- and IQ-matched typically developing (TD) children and examined (1) group differences in HRV and (2) associations between HRV and ASD symptomatology. Children with ASD showed significantly lower tonic HRV, but similar phasic HRV compared to TD children. Additionally, reduced tonic HRV was associated with atypical attentional responsivity in ASD. Our findings suggest ANS dysregulation is present in ASD and may contribute to atypical attentional responses to sensory stimulation.

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12. Lukito S, Norman L, Carlisi C, Radua J, Hart H, Simonoff E, Rubia K. Comparative meta-analyses of brain structural and functional abnormalities during cognitive control in attention-deficit/hyperactivity disorder and autism spectrum disorder. Psychological medicine. 2020 : 1-26.

BACKGROUND : People with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) have abnormalities in frontal, temporal, parietal and striato-thalamic networks. It is unclear to what extent these abnormalities are distinctive or shared. This comparative meta-analysis aimed to identify the most consistent disorder-differentiating and shared structural and functional abnormalities. METHODS : Systematic literature search was conducted for whole-brain voxel-based morphometry (VBM) and functional magnetic resonance imaging (fMRI) studies of cognitive control comparing people with ASD or ADHD with typically developing controls. Regional gray matter volume (GMV) and fMRI abnormalities during cognitive control were compared in the overall sample and in age-, sex- and IQ-matched subgroups with seed-based d mapping meta-analytic methods. RESULTS : Eighty-six independent VBM (1533 ADHD and 1295 controls ; 1445 ASD and 1477 controls) and 60 fMRI datasets (1001 ADHD and 1004 controls ; 335 ASD and 353 controls) were identified. The VBM meta-analyses revealed ADHD-differentiating decreased ventromedial orbitofrontal (z = 2.22, p < 0.0001) but ASD-differentiating increased bilateral temporal and right dorsolateral prefrontal GMV (zs 1.64, ps 0.002). The fMRI meta-analyses of cognitive control revealed ASD-differentiating medial prefrontal underactivation but overactivation in bilateral ventrolateral prefrontal cortices and precuneus (zs 1.04, ps 0.003). During motor response inhibition specifically, ADHD relative to ASD showed right inferior fronto-striatal underactivation (zs 1.14, ps 0.003) but shared right anterior insula underactivation. CONCLUSIONS : People with ADHD and ASD have mostly distinct structural abnormalities, with enlarged fronto-temporal GMV in ASD and reduced orbitofrontal GMV in ADHD ; and mostly distinct functional abnormalities, which were more pronounced in ASD.

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13. Morgano GP, Fulceri F, Nardocci F, Barbui C, Ostuzzi G, Papola D, Fatta LM, Fauci AJ, Coclite D, Napoletano A, De Crescenzo F, D’Alo GL, Amato L, Cinquini M, Iannone P, Schunemann HJ, Scattoni ML. Introduction and methods of the evidence-based guidelines for the diagnosis and management of autism spectrum disorder by the Italian National Institute of Health. Health and quality of life outcomes. 2020 ; 18(1) : 81.

BACKGROUND : Autism Spectrum Disorder (ASD) is a neuro-developmental disorder that affects communication and behavior with a prevalence of approximately 1% worldwide. Health outcomes of interventions for ASD are largely Participant Reported Outcomes (PROs). Specific guidelines can help support the best care for people with ASD to optimize these health outcomes but they have to adhere to standards for their development to be trustworthy. OBJECTIVE : The goal of this article is to describe the new methodological standards of the Italian National Institute of Health and novel aspects of this guideline development process. This article will serve as a reference standard for future guideline development in the Italian setting. METHODS : We applied the new standards of the Italian National Institute of Health to the two guidelines on diagnosis and management of children/adolescents and adults with ASD, with a focus on the scoping, panel composition, management of conflict of interest, generation and prioritization of research questions, early stakeholders’ involvement, and PROs. Recommendations are based on the Grading of Recommendations Assessment, Development and Evaluation (GRADE) Evidence-to-Decision frameworks. RESULTS : Following a public application process, the ISS established two multidisciplinary panels including people with ASD and/or their caregivers. Seventy-nine research questions were identified as potentially relevant for the guideline on children and adolescents with ASD and 31 for the one on adults with ASD. Questions deemed to have the highest priority were selected for inclusion in the guidelines. Other stakeholders valued their early involvement in the process which will largely focus on PROs. The panels then successfully piloted the development of recommendations using the methodological standards and process set by the ISS with a focus on PROs. CONCLUSIONS : In this article, we describe the development of practice guidelines that focus on PROs for the diagnosis and management of ASD based on novel methods for question prioritization and stakeholder involvement. The recommendations allow for the adoption or adaptation to international settings.

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14. Oser TK, Oser SM, Parascando JA, Grisolano LA, Krishna KB, Hale DE, Litchman M, Majidi S, Haidet P. Challenges and Successes in Raising a Child with Type 1 Diabetes and Autism Spectrum Disorder : Mixed Methods Study. Journal of medical Internet research. 2020.

BACKGROUND : Type 1 diabetes (T1D) self-management requires numerous decisions and actions by the person with T1D and/or their caregiver(s) and poses many daily challenges. For those with T1D and a developmental disorder such as autism spectrum disorder (ASD), more complex challenges arise, though these remain largely unstudied. OBJECTIVE : The purpose of this study was to better understand barriers and facilitators to raising a child with T1D and ASD. Secondary data analysis of online content (Phase 1) and telephone interviews (Phase 2) were conducted to further expand existing knowledge as to the challenges and successes these families face. METHODS : Phase 1 involved qualitative analysis of publicly available online forum and blog posts by caregivers of children with both T1D and ASD. Themes from Phase 1 were used to create an interview guide for further in-depth exploration via interviews. In Phase 2, caregivers of children with both T1D and ASD were recruited from Penn State Health endocrinology clinics and online from social media postings to T1D focused groups and sites. Interested respondents were directed to a secure online eligibility assessment via REDCap. Information related to T1D and ASD diagnosis, contact information and demographics were collected. Based on survey responses, participants were selected for a follow-up telephone interview, and were asked to complete the ABAS-3 Parent Form to assess autism severity and upload a copy of their child’s most recent hemoglobin A1c result. Interviews were transcribed, imported into NVivo qualitative data management software, and analyzed to determine common themes related to barriers and facilitators in raising a child with both ASD and T1D. RESULTS : For Phase 1, 398 forum and blog posts between 2009 and 2016 were analyzed. Common themes were related to lack of understanding by the separate ASD and T1D caregiver communities, advice on coping techniques, rules and routines, and descriptions of the healthcare experience. For Phase 2, twelve eligible respondents were interviewed. For interviewees, the average age of the child at diagnosis with T1D and ASD was 7.92 and 5.55 years, respectively. Average self-reported and documented hemoglobin A1c levels were 8.6% (70 mmol/mol) and 8.7% (72 mmol/mol), respectively. Common themes from the interviews were related to increased emotional burden, frustration surrounding the amount of information they are expected to learn, and challenges in the school setting. CONCLUSIONS : Caregivers of children with both T1D and ASD face unique challenges, distinct from those faced by caregivers of individuals who have either disorder alone. Understanding these challenges may help healthcare providers in caring for this unique population. Referral to the diabetes online community may be a potential resource to supplement the care received by the medical community. CLINICALTRIAL :

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15. Parikh C, Iosif AM, Ozonoff S. Brief Report : Use of the Infant-Toddler Checklist in Infant Siblings of Children with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

Few studies have explored autism spectrum disorder (ASD) screening in the first year of life. The current investigation examines the psychometric properties of the Infant-Toddler Checklist starting in the first year of life in a sample at elevated and average risk for ASD based on family history. 283 participants were followed from 6 to 36 months, when diagnostic outcome was determined. The results indicated low to moderate sensitivity, specificity, and positive predictive value across ages for broadly distinguishing any delays from typical development, as well as for more narrowly discriminating children with ASD from those who were typically developing. Implications for utilizing ASD screening tools in the first year of life with high risk samples are discussed.

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16. van Schalkwyk GI, Dewinter J. Qualitative Research in the Journal of Autism and Developmental Disorders. J Autism Dev Disord. 2020.

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