1. Barbosa AG, Pratesi R, Paz GSC, Dos Santos M, Uenishi RH, Nakano EY, Gandolfi L, Pratesi CB. {{Assessment of BDNF serum levels as a diagnostic marker in children with autism spectrum disorder}}. {Sci Rep}. 2020; 10(1): 17348.
There has been a significant increase in autism spectrum disorder (ASD) in the last decades that cannot be exclusively attributed to better diagnosis and an increase in the communication of new cases. Patients with ASD often show dysregulation of proteins associated with synaptic plasticity, notably brain-derived neurotrophic factor (BDNF). The objective of the present study was to analyze BDNF serum concentration levels in children with classic forms autism and a healthy control group to determine if there is a correlation between ASD and BDNF serum levels. Forty-nine children with severe classic form of autism, and 37 healthy children were enrolled in the study. Blood samples, from both patients and controls, were collected and BNDF levels from both groups were analyzed. The average BDNF serum concentration level was statistically higher for children with ASD (P < 0.000) compared to the control group. There is little doubt that BDNF plays a role in the pathophysiology of ASD development and evolution, but its brain levels may fluctuate depending on several known and unknown factors. The critical question is not if BDNF levels can be considered a prognostic or diagnostic marker of ASD, but to determine its role in the onset and progression of this disorder. Lien vers le texte intégral (Open Access ou abonnement)
2. Forrester GS, Davis R, Malatesta G, Todd BK. {{Evolutionary motor biases and cognition in children with and without autism}}. {Sci Rep}. 2020; 10(1): 17385.
Evolution has endowed vertebrates with a divided brain that allows for processing of critical survival behaviours in parallel. Most humans possess a standard functional brain organisation for these ancient sensory-motor behaviours, favouring the right hemisphere for fight-or-flight processes and the left hemisphere for performing structured motor sequences. However, a significant minority of the population possess an organisational phenotype that represents crowding of function in one hemisphere, or a reversal of the standard functional organisation. Using behavioural biases as a proxy for brain organisation, results indicate that reversed brain organisation phenotype increases in populations with autism and is associated with weaker cognitive abilities. Moreover, this study revealed that left-handedness, alone, is not associated with decreased cognitive ability or autism. Rather, left-handedness acts as a marker for decreased cognitive performance when paired with the reversed brain phenotype. The results contribute to comparative research suggesting that modern human abilities are supported by evolutionarily old, lateralised sensory-motor processes. Systematic, longitudinal investigations, capturing genetic measures and brain correlates, are essential to reveal how cognition emerges from these foundational processes. Importantly, strength and direction of biases can act as early markers of brain organisation and cognitive development, leading to promising, novel practices for diagnoses and interventions.
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3. Giannopulu I, Etournaud A, Terada K, Velonaki M, Watanabe T. {{Ordered interpersonal synchronisation in ASD children via robots}}. {Sci Rep}. 2020; 10(1): 17380.
Children with autistic spectrum disorders (ASD) experience persistent disrupted coordination in interpersonal synchronisation that is thought to be associated with deficits in neural connectivity. Robotic interventions have been explored for use with ASD children worldwide revealing that robots encourage one-to-one social and emotional interactions. However, associations between interpersonal synchronisation and emotional empathy have not yet been directly explored in French and Japanese ASD children when they interact with a human or a robot under analogous experimental conditions. Using the paradigm of actor-perceiver, where the child was the actor and the robot or the human the perceiver, we recorded the autonomic heart rate activation and reported emotional feelings of ASD children in both countries. Japanese and French ASD children showed different interpersonal synchronisation when they interacted with the human perceiver, even though the human was the same in both countries. However, they exhibited similar interpersonal synchronisation when the perceiver was the robot. The findings suggest that the mechanism combining interpersonal synchronisation and emotional empathy might be weakened but not absent in ASD children and that both French and Japanese ASD children do spontaneously and unconsciously discern non verbal actions of non human partners through a direct matching process that occurs via automatic mapping.
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4. Harrison JL, Brownlow CL, Ireland MJ, Piovesana AM. {{Empathy Measurement in Autistic and Nonautistic Adults: A COSMIN Systematic Literature Review}}. {Assessment}. 2020: 1073191120964564.
Empathy is essential for social functioning and is relevant to a host of clinical conditions. This COSMIN review evaluated the empirical support for empathy self-report measures used with autistic and nonautistic adults. Given autism is characterized by social differences, it is the subject of a substantial proportion of empathy research. Therefore, this review uses autism as a lens through which to scrutinize the psychometric quality of empathy measures. Of the 19 measures identified, five demonstrated « High-Quality » evidence for « Insufficient » properties and cannot be recommended. The remaining 14 had noteworthy gaps in evidence and require further evaluation before use with either group. Without tests of measurement invariance or differential item functioning, the extent to which observed group differences represent actual trait differences remains unknown. Using autism as a test case highlights an alarming tendency for empathy measures to be used to characterize, and potentially malign vulnerable populations before sufficient validation.
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5. Hu T, Dong Y, He C, Zhao M, He Q. {{The Gut Microbiota and Oxidative Stress in Autism Spectrum Disorders (ASD)}}. {Oxidative medicine and cellular longevity}. 2020; 2020: 8396708.
Autism spectrum disorders (ASDs) are a kind of neurodevelopmental disorder with rapidly increasing morbidity. In recent years, many studies have proposed a possible link between ASD and multiple environmental as well as genetic risk factors; nevertheless, recent studies have still failed to identify the specific pathogenesis. An analysis of the literature showed that oxidative stress and redox imbalance caused by high levels of reactive oxygen species (ROS) are thought to be integral parts of ASD pathophysiology. On the one hand, this review aims to elucidate the communications between oxidative stress, as a risk factor, and ASD. As such, there is also evidence to suggest that early assessment and treatment of antioxidant status are likely to result in improved long-term prognosis by disturbing oxidative stress in the brain to avoid additional irreversible brain damage. Accordingly, we will also discuss the possibility of novel therapies regarding oxidative stress as a target according to recent literature. On the other hand, this review suggests a definite relationship between ASD and an unbalanced gastrointestinal tract (GIT) microbiota (i.e., GIT dysbiosis). A variety of studies have concluded that the intestinal microbiota influences many aspects of human health, including metabolism, the immune and nervous systems, and the mucosal barrier. Additionally, the oxidative stress and GIT dysfunction in autistic children have both been reported to be related to mitochondrial dysfunction. What is the connection between them? Moreover, specific changes in the GIT microbiota are clearly observed in most autistic children, and the related mechanisms and the connection among ASD, the GIT microbiota, and oxidative stress are also discussed, providing a theory and molecular strategies for clinical practice as well as further studies.
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6. Jafari Mohammadabadi H, Rahmatian A, Sayehmiri F, Rafiei M. {{The Relationship Between the Level of Copper, Lead, Mercury and Autism Disorders: A Meta-Analysis}}. {Pediatric health, medicine and therapeutics}. 2020; 11: 369-78.
BACKGROUND AND OBJECTIVES: There is a likelihood of a possible relationship between the concentrations of copper, lead, and mercury and autism. The present review was carried out to determine the relationship between the concentrations of these elements and autism by meta-analysis. METHODS: In this study, searching Scopus, PubMed, and Science Direct databases, 18 articles conducted in different countries from 1982 to 2019 were collected. Studies’ heterogeneity was investigated using the I(2) index. The data were analyzed using R and STATA software. RESULTS: In these 18 studies, 1797 patients (981 cases and 816 controls) aged 2 to 16 years were examined. Concentration of the samples (blood, hair, and nails) for both case and control groups was evaluated. There was no significant relationship between copper concentration and autism (SMD (95% CI): 0.02 (-1.16,1.20); I(2)=97.7%; P=0.972); there was a significant relationship between mercury concentration and autism (SMD (95% CI): 1.96 (0.56,3.35); I(2)=98.6%; P=0.006); there was also a significant relationship between lead concentration and autism (SMD (95% CI): 2.81 (1.64,3.98); I(2)=97.8%; P=0.000). CONCLUSION: There is, nevertheless, a significant relationship between mercury concentration and autism. Thus, the concentration of mercury can be listed as a pathogenic cause (disease-causing) for autism.
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7. Kouo JL, Kouo TS. {{A Scoping Review of Targeted Interventions and Training to Facilitate Medical Encounters for School-Aged Patients with an Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
Individuals with an autism spectrum disorder (ASD) have a greater number of healthcare provider interactions than individuals without ASD. The obstacles to patient-centered care for this population, which include inflexibility of hospital environments, limited resources, and inadequate training, has been documented. However, there is little knowledge on efforts to address such concerns. A scoping review was conducted and the systematic search of the literature resulted in 23 relevant studies. The predominant themes include the use of data collection instruments, application of evidence-based practices and resources, and training of providers. The results of this review have implications for practitioners and future research to adapt and improve upon the provision of medical care for individuals with ASD across the lifespan.
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8. Li X, Liu G, Chen W, Bi Z, Liang H. {{Network analysis of autistic disease comorbidities in Chinese children based on ICD-10 codes}}. {BMC medical informatics and decision making}. 2020; 20(1): 268.
BACKGROUND: Autism is a lifelong disability associated with several comorbidities that confound diagnosis and treatment. A better understanding of these comorbidities would facilitate diagnosis and improve treatments. Our aim was to improve the detection of comorbid diseases associated with autism. METHODS: We used an FP-growth algorithm to retrospectively infer disease associations using 1488 patients with autism treated at the Guangzhou Women and Children’s Medical Center. The disease network was established using Cytoscape 3.7. The rules were internally validated by 10-fold cross-validation. All rules were further verified using the Columbia Open Health Data (COHD) and by literature search. RESULTS: We found 148 comorbid diseases including intellectual disability, developmental speech disorder, and epilepsy. The network comprised of 76 nodes and 178 directed links. 158 links were confirmed by literature search and 105 links were validated by COHD. Furthermore, we identified 14 links not previously reported. CONCLUSION: We demonstrate that the FP-growth algorithm can detect comorbid disease patterns, including novel ones, in patients with autism.
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9. Lim N, O’Reilly MF, Londono FV, Russell-George A. {{Overcoming Language Barriers between Interventionists and Immigrant Parents of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
This study used a video prompting intervention to overcome language barriers between English-speaking trainers and Spanish-speaking immigrant parents of children with autism. Parents were taught instructional skills targeting independent dressing. A multiple baseline design across three families and a replication using an alternating treatments design with a fourth family were used to evaluate the effects of the intervention. All mothers reached mastery criterion and generalization of instructional skills was observed for three mothers, with treatment gains maintaining during follow-up. Improvement in independent dressing skills was observed for four children. Findings suggest that video prompting can be used to teach immigrant parents of children with autism who have limited English proficiency when there is a language mismatch between parents and trainers.
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10. Lin SW, Chiu TY, Liou TH, Yen CF, Chen HG. {{The Relationship of Urbanization and Performance of Activity and Participation Functioning among Adults with Developmental Disabilities in Taiwan}}. {Int J Environ Res Public Health}. 2020; 17(20).
Developmental disability is likely to be lifelong in nature and to result in substantial activity and societal participation limitations. The performance of individuals is related to the environment, supports, and urbanization of living cities. Most of the surveys for people with disabilities have not discussed the relationship between the cognitive impairment properties and performance of participation and activities functioning, and most cognitive impairments are regarded as having similar performance. The location of residence in childhood is mainly influenced by parents and main caregivers, but the factors related to the preferences of adults with cognitive impairment in the location of residence are more complicated. OBJECTIVE(S): The aim was to explore and compare the relationships of the urbanization degree of their living cities and the functioning performance of daily living in various domains among adults with intellectual disability (ID), autism, and concomitant communicative impairment (CCI). METHOD: The cross-sectional study was applied, and the data was collected face-to-face by professionals in all authorized hospitals in Taiwan. The participants were 5374 adults with ID (n = 4455), autism (n = 670), CCI (n = 110) and combination disabilities (n = 139) which were according to the International Statistical Classification of Diseases 9th Revision (ICD-9) from a total of 167,069 adults with disabilities from the Disability Eligibility System (DES) in Taiwan between July 2012 and October 2013. The authors used the World Health Organization Disability Assessment Schedule 2.0-36 item version of WHO (WHODAS 2.0-36 items) to measure performance and capability of daily living. RESULTS AND CONCLUSIONS: There were significant differences in age, gender, disabled severity, and the urbanization between all subgroups (p < 0.05). After adjusting the age of all participators, the degree of urbanization just significantly affected the functioning score distribution in domain 1: cognition for an adult with ID, autism, and CCI; in domain 2, mobility for an adult with CCI and combination disability; in domain 3, self-care; domain 4, independent domains for ID (p < 0.05). There were no significant differences between urbanization degree and functioning scores in all domains for adults with autism. All in all, only in groups with combination disability did we find that the worse the degree of impairment was, the lower the degree of urbanization of their place of residence was, and there was no such phenomenon in adults with autism and ID in our study. Lien vers le texte intégral (Open Access ou abonnement)
11. Masi G, Scullin S, Narzisi A, Muratori P, Paciello M, Fabiani D, Lenzi F, Mucci M, D’Acunto G. {{Suicidal Ideation and Suicidal Attempts in Referred Adolescents with High Functioning Autism Spectrum Disorder and Comorbid Bipolar Disorder: A Pilot Study}}. {Brain Sci}. 2020; 10(10).
Suicidal ideation and attempts in adolescents are closely associated to bipolar disorders (BD). Growing evidence also suggests that high functioning autism spectrum disorders (HF-ASD) are at increased risk for suicidal ideation and behaviors. Although BD and HF-ASD are frequently comorbid, no studies explored suicidality in these individuals. This exploratory study addressed this issue in a clinical group of inpatient adolescents referred to a psychiatric emergency unit. Seventeen adolescents with BD and HF-ASD and severe suicidal ideation or attempts (BD-ASD-S), were compared to 17 adolescents with BD and HF-ASD without suicidal ideation or attempts (BD-ASD-noS), and to 18 adolescents with BD and suicidal ideation or attempts without ASD (BD-noASD-S), using a structured assessment methodology. Individuals with BD-ASD-S had a higher intelligence quotient, more severe clinical impairment, more lethality in suicide attempts, more internalizing symptoms, less impulsiveness, and lower social competence. Severity of ASD traits in individuals and parents did not correlate with suicidal risk. Some dimensions of resilience were protective in terms of repulsion by life and attraction to death. Main limitations are the small sample size, the lack of a control group of typically developing adolescents. However, a better understanding of the specificities of bipolar HF-ASD individuals with suicidality may improve prevention and treatment strategies.
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12. Ojha V, Sharma A, Ganga K, Kumar S. {{Sinus venosus ASD and PAPVC with constrictive pericarditis: a rare association}}. {Indian journal of thoracic and cardiovascular surgery : official organ, Association of Thoracic and Cardiovascular Surgeons of India}. 2020; 36(5): 550-1.
This is a case of a young man who underwent preoperative computed tomography evaluation for sinus venosus type of atrial septal defect, and was found to have associated chronic constrictive pericarditis. Association of these two entities is rare and changes the management approach.
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13. Posar A, Visconti P. {{Is it autism? Some suggestions for pediatricians}}. {Turk pediatri arsivi}. 2020; 55(3): 229-35.
An early diagnosis of autism spectrum disorder, leading to a timely enabling intervention, is associated with a better long-term prognosis and allows the early detection of any medical comorbidities that are sometimes found in individuals with autism. It is, therefore, an important challenge to begin the diagnostic procedure of these children as soon as possible. Nowadays, much progress has been made in this respect compared with the past, but considerable work remains. A fundamental role in starting a correct and timely diagnostic procedure is obviously played by the pediatrician. Today, many tools are available for the early screening of autism in the general population, but unfortunately, their real effectiveness has yet to be established. In this narrative review, we address the topic of the early diagnosis of autism spectrum disorder, emphasizing, in particular, those that are now considered the first warning signs. We list a few of the most important signs to consider when a child aged around 18 months presents to a pediatrician, subdivided into three subgroups: social-communication skills; patterns of behavior, interests, or activities; and sensory behaviors and reactivity/temperament. We deal separately with the possible presence of slight motor signs, which can also go unnoticed, but probably they should be considered as very early signs appearing even before social-communication deficits.
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14. Posar A, Visconti P. {{Some considerations about the association between autism spectrum disorder and epilepsy}}. {Turk pediatri arsivi}. 2020; 55(3): 331-2.
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15. Rahman MR, Petralia MC, Ciurleo R, Bramanti A, Fagone P, Shahjaman M, Wu L, Sun Y, Turanli B, Arga KY, Islam MR, Islam T, Nicoletti F. {{Comprehensive Analysis of RNA-Seq Gene Expression Profiling of Brain Transcriptomes Reveals Novel Genes, Regulators, and Pathways in Autism Spectrum Disorder}}. {Brain Sci}. 2020; 10(10).
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with deficits in social communication ability and repetitive behavior. The pathophysiological events involved in the brain of this complex disease are still unclear. METHODS: In this study, we aimed to profile the gene expression signatures of brain cortex of ASD patients, by using two publicly available RNA-seq studies, in order to discover new ASD-related genes. RESULTS: We detected 1567 differentially expressed genes (DEGs) by meta-analysis, where 1194 were upregulated and 373 were downregulated genes. Several ASD-related genes previously reported were also identified. Our meta-analysis identified 235 new DEGs that were not detected using the individual RNA-seq studies used. Some of those genes, including seven DEGs (PAK1, DNAH17, DOCK8, DAPP1, PCDHAC2, and ERBIN, SLC7A7), have been confirmed in previous reports to be associated with ASD. Gene Ontology (GO) and pathways analysis showed several molecular pathways enriched by the DEGs, namely, osteoclast differentiation, TNF signaling pathway, complement and coagulation cascade. Topological analysis of protein-protein interaction of the ASD brain cortex revealed proteomics hub gene signatures: MYC, TP53, HDAC1, CDK2, BAG3, CDKN1A, GABARAPL1, EZH2, VIM, and TRAF1. We also identified the transcriptional factors (TFs) regulating DEGs, namely, FOXC1, GATA2, YY1, FOXL1, USF2, NFIC, NFKB1, E2F1, TFAP2A, HINFP. CONCLUSION: Novel core genes and molecular signatures involved with ASD were identified by our meta-analysis.
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16. Snyder J, Turner L. {{Crowdfunding, stem cell interventions and autism spectrum disorder: comparing campaigns related to an international « stem cell clinic » and US academic medical center}}. {Cytotherapy}. 2020.
BACKGROUND AIMS: Studies examining crowdfunding campaigns for stem cell interventions have typically focused on campaigns seeking funds to send individuals to businesses marketing unlicensed and unproven stem cell products. However, some crowdfunding campaigns identify academic medical centers as destinations for individuals seeking access to stem cell products provided either in clinical studies or on an expanded access basis. This study examines crowdfunding campaigns seeking funds to enable children diagnosed with autism spectrum disorder access to stem cell interventions. METHODS: This study compares and contrasts crowdfunding campaigns, identifying an international stem cell clinic marketing a purported umbilical cord blood-derived stem cell treatment for autism spectrum disorder, with campaigns soliciting donations intended to help children with autism spectrum disorder either participate in clinical studies or obtain expanded access to stem cell products provided at an academic medical center in the US. RESULTS: Campaigns connected to both sites contained inaccurate claims. However, campaigns identifying the international clinic as the intended destination site made stronger claims about efficacy and were more reliant upon testimonials than campaigns listing the US-based academic medical center as the planned clinical site. Acknowledging these important distinctions, clinical studies and press releases associated with the academic medical center played an important role in lending the perception of credibility to the putative stem cell treatments marketed by the international clinic. CONCLUSIONS: The study’s findings emphasize how important it is for researchers at academic medical centers and comparable research facilities to avoid engaging in stem cell hyperbole; highlight the preliminary nature of early clinical studies; ensure that any claims about safety and efficacy are based upon robust and reliable evidence; and promote responsible science communication by exercising restraint when crafting press releases, conducting media interviews and otherwise publicizing clinical research findings.
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17. Syu YC, Huang PC, Wang TY, Chang YC, Lin LY. {{Relationship Among Sensory Over-Responsivity, Problem Behaviors, and Anxiety in Emerging Adults with Autism Spectrum Disorder}}. {Neuropsychiatr Dis Treat}. 2020; 16: 2181-90.
INTRODUCTION: Despite the highly prevailing rate of sensory over-responsivity, problem behaviors, and anxiety among emerging adults with autism spectrum disorder (ASD), little is known about the nature of their experiences. While previous studies have indicated potential relationships among these conditions, their connections still need to be clarified. This study aimed to examine the relationships between sensory over-responsivity, problem behaviors, and anxiety. METHODS: Fifty-seven emerging adults with ASD (M(age) = 21.4, SD = 2.5; males = 80.7%) were recruited. The Adult Sensory Profile – Chinese version, Problem Behavior Scale of Scales of Independent Behavior – Revised, and Generalized Anxiety Disorder-7 – Chinese version (GAD-7) were used. RESULTS: The percentage of emerging adults with ASD who scored more than most people in the two quadrants were sensation sensitivity = 33.3% and sensation avoiding = 26.3%. Approximately 66.7%, 27.5%, and 50.9% of participants had internalizing behaviors, externalizing behaviors, and asocial behaviors, respectively. Approximately, 64.9% of the participants scored on or above the cut-off score of 6 on the GAD-7. Sensation sensitivity and sensation avoiding were significantly correlated to problem behaviors; and anxiety was a mediating variable that accounts for the relationships between sensory over-responsivity and problem behaviors. CONCLUSION: These results indicated that emerging adults with ASD showing problem behaviors might also report more exaggerated responses toward sensory inputs and experience more anxiety symptoms. The results indicate that sensory over-responsivity, problem behaviors, and anxiety may have common underlying mechanisms. Findings can be useful to understand the impacts of such difficulties for emerging adults with ASD.
