Pubmed du 24/09/20

jeudi 24 septembre 2020

1. Ahmed KL, Simon AR, Dempsey JR, Samaco RC, Goin-Kochel RP. Evaluating Two Common Strategies for Research Participant Recruitment Into Autism Studies : Observational Study. J Med Internet Res ;2020 (Sep 24) ;22(9):e16752.

BACKGROUND : Ongoing research is necessary to better understand the causes of autism spectrum disorder (ASD), the developmental outcomes for individuals diagnosed with ASD, and the efficacy of the interventions. However, it is often difficult to recruit sufficient numbers of participants for studies, and despite the prevalence of ASD (currently estimated to affect 1 in 54 children), little research has focused on how to efficiently recruit participants with ASD. OBJECTIVE : The aim of this study was to determine the efficacy of two different paid advertisements-social media and radio advertising-in recruiting participants for a study enrolling people with ASD and their family members by examining the number of participants enrolled, the cost per participant, and the geographic reach of each type of advertising. METHODS : We examined participant enrollment in a study following nonoverlapping paid advertisements on a popular FM radio station (aired in three cities across two states) and Facebook (six advertisements that ran in five cities across two states). The total paid investment in the radio campaign was $12,030 and that in the Facebook campaign was $2950. Following the advertising campaigns, 1391 participants in the study who were affiliated with the Houston, Texas, site received email invitations to participate in a brief survey about the ways in which they learned about the study (eg, social media, medical provider, website) and which of these were most influential in their decisions to participate ; 374 (26.8%) of the participants completed this survey. RESULTS : Social media advertising outperformed radio in all three parameters examined by enrolling more participants (338 vs 149), with a lower average cost per participant ($8.73 vs $80.74) and a wider geographic reach, based on a comparison of the number of zip codes within and outside of Texas for questionnaire respondents who rated social media as the most influential method of contact (n=367, χ(2)(1)=5.85, P=.02). Of the 374 survey participants, 139 (37.2%) reported that they had seen the study on social media prior to enrollment, while only 9 (2.4%) said they heard about it via radio. CONCLUSIONS : Our findings suggest that advertising on social media can efficiently reach a large pool of potential participants with ASD, increasing the likelihood of meeting study enrollment goals. Researchers should consider allocating at least some portion of recruitment dollars to social media platforms as a means of quickly and inexpensively reaching out to their target populations, including for studies with in-person procedures.

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2. Altakhaineh ARM, Zibin A, Alkhatib RN. On the Acquisition of the Arabic Grammatical Gender by Arabic-Speaking Children with ASD. J Psycholinguist Res ;2020 (Sep 22)

This study examines the ability of Arabic-speaking-children diagnosed with Autism Spectrum Disorder (ASD) to acquire the Arabic grammatical gender. It also explores whether the use of visual stimuli can be effective to acquire it. Using the experimental design of a pre- and post-test, 14 children with ASD were tested twice on the same items after a treatment period and their results were compared using a paired sample t-test. The results showed that the use of visual stimuli could be effective in the acquisition of grammatical gender evidenced by the higher accuracy rate on the post-test. The results also demonstrated that the visibility of the feminine suffix marked on the target noun and the participants’ familiarity with these nouns contributed to this rate on the post-test. Furthermore, it was shown that even if the noun belonged to a natural gender class, it had no effect on the participants’ answers unlike the results reported by previous studies on the acquisition of grammatical gender.

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3. Barros F, Figueiredo C, Costa A, Soares SC. Sensory Processing in the Autism Spectrum : The Role of Attention to Detail and Somatic Trait Anxiety in the Olfactory Perception of the General Population. J Autism Dev Disord ;2020 (Sep 22)

Autism Spectrum Disorders, as well as autism traits (AT), have been associated with altered sensory processing. However, the role of AT in olfactory processing is still unclear. We analyzed the impact of AT and trait anxiety (TANX), relevant in the context of autism and olfactory perception, in the olfactory abilities of a nonclinical adult sample. Participants (N = 116) completed the Autism-Spectrum Quotient (AQ), the State-Trait Inventory for Cognitive and Somatic Anxiety (STICSA) and the Sniffin’ Sticks Extended Test to measure AT, TANX and olfactory abilities, respectively. A hierarchical multiple regression analysis suggested that women and higher scores on the Attention to Detail subscale of AQ were associated with better odor discrimination, and higher somatic TANX was related to poorer odor discrimination.

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4. Cantin-Garside KD, Nussbaum MA, White SW, Kim S, Kim CD, Fortes DMG, Valdez RS. Understanding the experiences of self-injurious behavior in autism spectrum disorder : Implications for monitoring technology design. J Am Med Inform Assoc ;2020 (Sep 24)

OBJECTIVE : Monitoring technology may assist in managing self-injurious behavior (SIB), a pervasive concern in autism spectrum disorder (ASD). Affiliated stakeholder perspectives should be considered to design effective and accepted SIB monitoring methods. We examined caregiver experiences to generate design guidance for SIB monitoring technology. MATERIALS AND METHODS : Twenty-three educators and 16 parents of individuals with ASD and SIB completed interviews or focus groups to discuss needs related to monitoring SIB and associated technology use. RESULTS : Qualitative content analysis of participant responses revealed 7 main themes associated with SIB and technology : triggers, emotional responses, SIB characteristics, management approaches, caregiver impact, child/student impact, and sensory/technology preferences. DISCUSSION : The derived themes indicated areas of emphasis for design at the intersection of monitoring and SIB. Systems design at this intersection should consider the range of manifestations of and management approaches for SIB. It should also attend to interactions among children with SIB, their caregivers, and the technology. Design should prioritize the transferability of physical technology and behavioral data as well as the safety, durability, and sensory implications of technology. CONCLUSIONS : The collected stakeholder perspectives provide preliminary groundwork for an SIB monitoring system responsive to needs as articulated by caregivers. Technology design based on this groundwork should follow an iterative process that meaningfully engages caregivers and individuals with SIB in naturalistic settings.

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5. Chakraborty A, Jenjaroenpun P, Li J, El Hilali S, McCulley A, Haarer B, Hoffman EA, Belak A, Thorland A, Hehnly H, Schildkraut C, Chen CL, Kuznetsov VA, Feng W. Replication Stress Induces Global Chromosome Breakage in the Fragile X Genome. Cell Rep ;2020 (Sep 22) ;32(12):108179.

Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the FMR1 gene and deficiency of a functional FMRP protein. FMRP is known as a translation repressor whose nuclear function is not understood. We investigated the global impact on genome stability due to FMRP loss. Using Break-seq, we map spontaneous and replication stress-induced DNA double-strand breaks (DSBs) in an FXS patient-derived cell line. We report that the genomes of FXS cells are inherently unstable and accumulate twice as many DSBs as those from an unaffected control. We demonstrate that replication stress-induced DSBs in FXS cells colocalize with R-loop forming sequences. Exogenously expressed FMRP in FXS fibroblasts ameliorates DSB formation. FMRP, not the I304N mutant, abates R-loop-induced DSBs during programmed replication-transcription conflict. These results suggest that FMRP is a genome maintenance protein that prevents R-loop accumulation. Our study provides insights into the etiological basis for FXS.

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6. Chakraborty P, Carpenter KLH, Major S, Deaver M, Vermeer S, Herold B, Franz L, Howard J, Dawson G. Gastrointestinal problems are associated with increased repetitive behaviors but not social communication difficulties in young children with autism spectrum disorders. Autism ;2020 (Sep 24):1362361320959503.

Individuals with autism spectrum disorder are more likely than typically developing individuals to experience a range of gastrointestinal abnormalities, including chronic diarrhea, constipation, food sensitivities, and abdominal pain. These gastrointestinal symptoms have been associated with higher levels of irritability and aggressive behavior, but less is known about their relationship with core autism spectrum disorder symptoms. We investigated the relationship between autism spectrum disorder symptom severity and gastrointestinal symptoms while accounting for three associated behavioral symptom domains (Irritability, Aggressiveness, and Specific Fears), in a sample of 176 children (140 males and 36 females) ages 2-7 years old with autism spectrum disorder. A large majority (93.2%) of the sample had at least one reported gastrointestinal symptom, and most (88.1%) participants had more than one gastrointestinal symptom. Various types of gastrointestinal symptoms were reported ; the most common symptoms reported were constipation, food limits, gas/bloating, and stomach pain. After accounting for each associated behavioral symptom domain, repetitive behaviors and stereotypies were significantly associated with gastrointestinal symptom severity. Increased severity of autism spectrum disorder symptoms was correlated with increased gastrointestinal symptom severity. Social and communication difficulties were not significantly associated with gastrointestinal symptom severity after accounting for associated behavioral symptoms. Our findings replicate a previously described association between irritability and aggression and gastrointestinal symptoms. Furthermore, we found that repetitive behaviors, but not social or communication symptoms, are associated with gastrointestinal symptom severity, even after accounting for associated behavioral symptoms. This suggests that gastrointestinal symptoms may exacerbate repetitive behaviors, or vice versa, independent from other associated behavioral symptoms.

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7. Cremone-Caira A, Trier K, Sanchez V, Kohn B, Gilbert R, Faja S. Inhibition in developmental disorders : A comparison of inhibition profiles between children with autism spectrum disorder, attention-deficit/hyperactivity disorder, and comorbid symptom presentation. Autism ;2020 (Sep 24):1362361320955107.

Many children with autism spectrum disorder (ASD) also have symptoms of attention-deficit hyperactivity disorder (ADHD). Children with ASD and ADHD often experience difficulties with inhibition. This study had the goal of understanding inhibition in children with ASD, ADHD, ASD + ADHD, and children who are typically developing (TD) using tasks that measured several aspects of inhibition. Results indicate that children with ASD + ADHD had greater difficulty inhibiting behavioral responses than TD children. Children with ASD + ADHD also differed from children with ASD and with ADHD in their inhibition of distracting information and strategic slowing of response speed. The four groups did not differ in their avoidance of potential losses. Children with ASD + ADHD exhibit a unique profile of inhibition challenges suggesting they may benefit from targeted intervention matched to their abilities.

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8. Deng W, Nishiyori R, Vanderbilt DL, Smith BA. How Many Days are Necessary to Represent Typical Daily Leg Movement Behavior for Infants at Risk of Developmental Disabilities ?. Sensors (Basel) ;2020 (Sep 18) ;20(18)

BACKGROUND : Movement characteristics can differentiate between infants at risk and infants with typical development. However, it is unknown how many days are needed to accurately represent typical daily behavior for infants at risk of developmental disabilities when using wearable sensors. To consider the balance between participant burden and the amount of data collected and optimizing the efficiency of data collection, our study determined (1) how many days were necessary to represent typical movement behavior for infants at risk of developmental disabilities and (2) whether movement behavior was different on weekend days and weekdays. METHODS : We used Opal wearable sensors to collect at least 5 days of 11 infants’ leg movement data. The standard (average of 5 days) was compared with four methods (average of the first 1/2/3/4 days) using the Bland-Altman plots and the Spearman correlation coefficient. We also compared the data from the average of 2 weekend days to the average of the first 2 weekdays for 8 infants. RESULTS : The Spearman correlation coefficient comparing the average of the first 2 days of data and the standards were all above 0.7. The absolute differences between them were all below 10% of the standards. The Bland-Altman plots showed more than 90% of the data points comparing the average of 2 days and the standards fell into the limit of agreement for each variable. The absolute difference between weekend days and weekdays for the leg movement rate, duration, average acceleration, and peak acceleration was 15.2%, 1.7%, 6.8% and 6.3% of the corresponding standard, respectively. CONCLUSION : Our results suggest 2 days is the optimal amount of data to represent typical daily leg movement behavior of infants at risk of developmental disabilities while minimizing participant burden. Further, leg movement behavior did not differ distinctly across weekend days and weekdays. These results provide supportive evidence for an efficient amount of data collections when using wearable sensors to evaluate movement behavior in infants at risk of developmental disabilities.

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9. Donati G, Davis R, Forrester GS. Author Correction : Gaze behaviour to lateral face stimuli in infants who do and do not receive an ASD diagnosis. Sci Rep ;2020 (Sep 24) ;10(1):16033.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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10. Espinosa L, Lundin Kleberg J, Hofvander B, Berggren S, Bölte S, Olsson A. Enhanced social learning of threat in adults with autism. Mol Autism ;2020 (Sep 22) ;11(1):71.

BACKGROUND : Recent theories have linked autism to challenges in prediction learning and social cognition. It is unknown, however, how autism affects learning about threats from others "demonstrators" through observation, which contains predictive learning based on social information. The aims of this study are therefore to investigate social fear learning in individual with autism spectrum disorder (ASD) and to examine whether typically developing social cognition is necessary for successful observational learning. METHODS : Adults with ASD (n = 23) and neurotypical controls (n = 25) completed a social fear learning (SFL) procedure in which participants watched a "demonstrator" receiving electrical shocks in conjunction with a previously neutral conditioned stimulus (CS+), but never with a safe control stimulus (CS-). Skin conductance was used to measure autonomic responses of learned threat responses to the CS+ versus CS-. Visual attention was measured during learning using eye tracking. To establish a non-social learning baseline, each participant also underwent a test of Pavlovian conditioning. RESULTS : During learning, individuals with ASD attended less to the demonstrator’s face, and when later tested, displayed stronger observational, but not Pavlovian, autonomic indices of learning (skin conductance) compared to controls. In controls, both higher levels of attention to the demonstrator’s face and trait empathy predicted diminished expressions of learning during test. LIMITATIONS : The relatively small sample size of this study and the typical IQ range of the ASD group limit the generalizability of our findings to individuals with ASD in the average intellectual ability range. CONCLUSIONS : The enhanced social threat learning in individuals with ASD may be linked to difficulties using visual attention and mental state attributions to downregulate their emotion.

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11. Frye RE, Cakir J, Rose S, Delhey L, Bennuri SC, Tippett M, Melnyk S, James SJ, Palmer RF, Austin C, Curtin P, Arora M. Prenatal air pollution influences neurodevelopment and behavior in autism spectrum disorder by modulating mitochondrial physiology. Mol Psychiatry ;2020 (Sep 22)

We investigate the role of the mitochondrion, an organelle highly sensitive to environmental agents, in the influence of prenatal air pollution exposure on neurodevelopment and behavior in 96 children with autism spectrum disorder (ASD) [45 with neurodevelopmental regression (NDR) ; 76% Male ; mean (SD) age 10 y 9 m (3 y 9 m)]. Mitochondrial function was assessed using the Seahorse XFe96 in fresh peripheral blood mononuclear cells. Second and third trimester average and maximal daily exposure to fine air particulate matter of diameter ≤2.5 µm (PM(2.5)) was obtained from the Environmental Protection Agency’s Air Quality System. Neurodevelopment was measured using the Vineland Adaptive Behavior Scale 2nd edition and behavior was assessed using the Aberrant Behavior Checklist and Social Responsiveness Scale. Prenatal PM(2.5) exposure influenced mitochondrial respiration during childhood, but this relationship was different for those with (r = 0.25-0.40) and without (r = -0.07 to -0.19) NDR. Mediation analysis found that mitochondrial respiration linked to energy production accounted for 25% (SD = 2%) and 10% (SD = 2%) of the effect of average prenatal PM(2.5) exposure on neurodevelopment and behavioral symptoms, respectively. Structural equation models estimated that PM(2.5) and mitochondrial respiration accounted for 34% (SD = 4%) and 36% (SD = 3%) of the effect on neurodevelopment, respectively, and that behavior was indirectly influenced by mitochondrial respiration through neurodevelopment but directly influenced by prenatal PM(2.5). Our results suggest that prenatal exposure to PM(2.5) disrupts neurodevelopment and behavior through complex mechanisms, including long-term changes in mitochondrial respiration and that patterns of early development need to be considered when studying the influence of environmental agents on neurodevelopmental outcomes.

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12. Fu Z, Sui J, Turner JA, Du Y, Assaf M, Pearlson GD, Calhoun VD. Dynamic functional network reconfiguration underlying the pathophysiology of schizophrenia and autism spectrum disorder. Hum Brain Mapp ;2020 (Sep 23)

The dynamics of the human brain span multiple spatial scales, from connectivity associated with a specific region/network to the global organization, each representing different brain mechanisms. Yet brain reconfigurations at different spatial scales are seldom explored and whether they are associated with the neural aspects of brain disorders is far from understood. In this study, we introduced a dynamic measure called step-wise functional network reconfiguration (sFNR) to characterize how brain configuration rewires at different spatial scales. We applied sFNR to two independent datasets, one includes 160 healthy controls (HCs) and 151 patients with schizophrenia (SZ) and the other one includes 314 HCs and 255 individuals with autism spectrum disorder (ASD). We found that both SZ and ASD have increased whole-brain sFNR and sFNR between cerebellar and subcortical/sensorimotor domains. At the ICN level, the abnormalities in SZ are mainly located in ICNs within subcortical, sensory, and cerebellar domains, while the abnormalities in ASD are more widespread across domains. Interestingly, the overlap SZ-ASD abnormality in sFNR between cerebellar and sensorimotor domains was correlated with the reasoning-problem-solving performance in SZ (r = -.1652, p = .0058) as well as the Autism Diagnostic Observation Schedule in ASD (r = .1853, p = .0077). Our findings suggest that dynamic reconfiguration deficits may represent a key intersecting point for SZ and ASD. The investigation of brain dynamics at different spatial scales can provide comprehensive insights into the functional reconfiguration, which might advance our knowledge of cognitive decline and other pathophysiology in brain disorders.

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13. Javadfar Z, Abdollahzad H, Moludi J, Rezaeian S, Amirian H, Foroughi AA, Nachvak SM, Goharmehr N, Mostafai R. Effects of vitamin D supplementation on core symptoms, serum serotonin, and interleukin-6 in children with autism spectrum disorders : A randomized clinical trial. Nutrition ;2020 (Aug 28) ;79-80:110986.

OBJECTIVES : Children with autism spectrum disorders (ASD) have lower serum vitamin D and higher serotonin and interleukin (IL)-6 levels compared with healthy children. The aim of this study was to evaluate the effect of vitamin D on core symptoms and serum levels of serotonin and IL-6 in these children. METHODS : This parallel randomized double-blind, placebo-controlled trial was conducted with 43 children with ASD (7 girls and 36 boys ; 8.91 ± 2.87 y of age). Children were randomly allocated to receive either vitamin D drop (300 IU/kg up to a maximum of 6000 IU daily) or placebo for 15 wk. Serum levels of 25-hydroxyvitamin (OH)D, IL-6, and serotonin were measured at baseline and at the end of the trial. Also, the severity of autism and the social and individual maturity of the children were measured by the Childhood Autism Rating Scale (CARS), the Autism Treatment Assessment Checklist (ATEC), and Aberrant Behavior Checklist-Community (ABC-C) questionnaires before and after intervention. Randomization and allocation to groups were done using computer-generated numbers. RESULTS : More than 86% of patients had vitamin D deficiency at the beginning of the study. Serum levels of 25(OH)D increased significantly in the vitamin D group (P = 0.001). The clinical symptoms of autism measured by CARS and ATEC scales were alleviated significantly (P = 0.021 and P = 0.020, respectively) ; however, the serum levels of serotonin and IL-6 and the scale of ABC-C remained without a significant change. CONCLUSION : These findings suggest that vitamin D supplementation may improve ASD symptoms ; however, more studies with longer duration are indispensable to confirm our results.

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14. Jęśko H, Cieślik M, Gromadzka G, Adamczyk A. Dysfunctional proteins in neuropsychiatric disorders : from neurodegeneration to Autism Spectrum Disorders. Neurochem Int ;2020 (Sep 24):104853.

Despite fundamental differences in disease course and outcomes, neurodevelopmental neurodevelopmental (autism spectrum disorders - ASD) and neurodegenerative disorders (Alzheimer’s disease - AD and Parkinson’s disease - PD) present surprising, common traits in their molecular pathomechanisms. Uncontrolled oligomerization and aggregation of amyloid β (Aβ), microtubule-associated protein (MAP) tau, or α-synuclein (α-syn) contribute to synaptic impairment and the ensuing neuronal death in both AD and PD. Likewise, the pathogenesis of ASD may be attributed, at least in part, to synaptic dysfunction ; attention has also been recently paid to irregularities in the metabolism and function of the Aβ precursor protein (APP), tau, or α-syn. Commonly affected elements include signaling pathways that regulate cellular metabolism and survival such as insulin/insulin-like growth factor (IGF) - PI3 kinase - Akt - mammalian target of rapamycin (mTOR), and a number of key synaptic proteins critically involved in neuronal communication. Understanding how these shared pathomechanism elements operate in different conditions may help identify common targets and therapeutic approaches.

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15. Ku B, MacDonald M, Hatfield B, Gunter K. Parental Influence on the Physical Activity Behaviors of Young Children With Developmental Disabilities. Adapt Phys Activ Q ;2020 (Sep 24):1-20.

The purpose of this study was to test a modified conceptual model of the associations between parental supports and physical activity (PA) orientations and the PA behaviors of young children with developmental disabilities (DDs). In total, 135 parents of young children with DDs completed a questionnaire, which consisted of 67 questions. A pathway analysis indicated that tangible and intangible parental supports were significantly associated with PA behaviors in young children with DDs (β = 0.26, p = .01, and β = 0.24, p = .02, respectively). Tangible parental support was positively associated with parents’ PA behaviors and PA enjoyment (β = 0.22, p < .001, and β = 0.13, p = .04, respectively). Intangible parental support was positively associated with parents’ PA behaviors and PA importance (β = 0.19, p = .05, and β = 0.33, p < .001, respectively). In addition, parental PA behaviors and parents’ perceptions of their children’s motor performance were both directly associated with PA behaviors in young children with DDs. These results highlight the importance of parental support and PA orientations in relation to the PA behaviors of young children with DDs.

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16. Lee EC, Hu VW. Phenotypic Subtyping and Re-Analysis of Existing Methylation Data from Autistic Probands in Simplex Families Reveal ASD Subtype-Associated Differentially Methylated Genes and Biological Functions. Int J Mol Sci ;2020 (Sep 19) ;21(18)

Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with core deficits in social communication and manifestation of restricted, repetitive, and stereotyped behaviors. Despite the core symptomatology, ASD is extremely heterogeneous with respect to the severity of symptoms and behaviors. This heterogeneity presents an inherent challenge to all large-scale genome-wide omics analyses. In the present study, we address this heterogeneity by stratifying ASD probands from simplex families according to the severity of behavioral scores on the Autism Diagnostic Interview-Revised diagnostic instrument, followed by re-analysis of existing DNA methylation data from individuals in three ASD subphenotypes in comparison to that of their respective unaffected siblings. We demonstrate that subphenotyping of cases enables the identification of over 1.6 times the number of statistically significant differentially methylated regions (DMR) and DMR-associated genes (DAGs) between cases and controls, compared to that identified when all cases are combined. Our analyses also reveal ASD-related neurological functions and comorbidities that are enriched among DAGs in each phenotypic subgroup but not in the combined case group. Moreover, relational gene networks constructed with the DAGs reveal signaling pathways associated with specific functions and comorbidities. In addition, a network comprised of DAGs shared among all ASD subgroups and the combined case group is enriched in genes involved in inflammatory responses, suggesting that neuroinflammation may be a common theme underlying core features of ASD. These findings demonstrate the value of phenotype definition in methylomic analyses of ASD and may aid in the development of subtype-directed diagnostics and therapeutics.

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17. Li Y, Qiu S, Shi J, Guo Y, Li Z, Cheng Y, Liu Y. Association between MTHFR C677T/A1298C and susceptibility to autism spectrum disorders : a meta-analysis. BMC Pediatr ;2020 (Sep 24) ;20(1):449.

BACKGROUND : Autism spectrum disorder (ASD) is becoming increasingly prevalent of late. Methylenetetrahydrofolate reductase (MTHFR) has a significant role in folate metabolism. Owing to the inconsistencies and inconclusiveness on the association between MTHFR single nucleotide polymorphism (SNP) and ASD susceptibilities, a meta-analysis was conducted to settle the inconsistencies. METHODS : For this meta-analysis, a total of 15 manuscripts published up to January 26, 2020, were selected from PubMed, Google Scholar, Medline, WangFang, and CNKI databases using search terms "MTHFR" OR "methylenetetrahydrofolate reductase" AND "ASD" OR "Autism Spectrum Disorders" OR "Autism" AND "polymorphism" OR "susceptibility" OR "C677T" OR "A1298C". RESULTS : The findings of the meta-analysis indicated that MTHFR C677T polymorphism is remarkably associated with ASD in the five genetic models, viz., allelic, dominant, recessive, heterozygote, and homozygote. However, the MTHFR A1298C polymorphism was not found to be significantly related to ASD in the five genetic models. Subgroup analyses revealed significant associations of ASD with the MTHFR (C677T and A1298C) polymorphism. Sensitivity analysis showed that this meta-analysis was stable and reliable. No publication bias was identified in the associations between MTHFRC677T polymorphisms and ASD in the five genetic models, except for the one with regard to the associations between MTHFRA1298C polymorphisms and ASD in the five genetic models. CONCLUSION : This meta-analysis showed that MTHFR C677T polymorphism is a susceptibility factor for ASD, and MTHFR A1298C polymorphism is not associated with ASD susceptibility.

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18. Liang Y, Ke X, Xiao Z, Zhang Y, Chen Y, Li Y, Wang Z, Lin L, Yao P, Lu J. Untargeted Metabolomic Profiling Using UHPLC-QTOF/MS Reveals Metabolic Alterations Associated with Autism. Biomed Res Int ;2020 ;2020:6105608.

Autism spectrum disorder (ASD) is a clinical spectrum of neurodevelopment disorder characterized by deficits in social communication and social interaction along with repetitive/stereotyped behaviors. The current diagnosis for autism relies entirely on clinical evaluation and has many limitations. In this study, we aim to elucidate the potential mechanism behind autism and establish a series of potential biomarkers for diagnosis. Here, we established an ultra-high-performance liquid chromatography-quadrupole time-of-flight mass spectrometry- (UHPLC-QTOF/MS-) based metabonomic approach to discriminate the metabolic modifications between the cohort of autism patients and the healthy subjects. UHPLC-QTOF/MS analysis revealed that 24 of the identified potential biomarkers were primarily involved in amino acid or lipid metabolism and the tryptophan kynurenine pathway. The combination of nicotinamide, anthranilic acid, D-neopterin, and 7,8-dihydroneopterin allows for discrimination between ASD patients and controls, which were validated in an independent autism case-control cohort. The results indicated that UHPLC-QTOF/MS-based metabolomics is capable of rapidly profiling autism metabolites and is a promising technique for the discovery of potential biomarkers related to autism.

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19. Lin YN, Iao LS, Lee YH, Wu CC. Parenting Stress and Child Behavior Problems in Young Children with Autism Spectrum Disorder : Transactional Relations Across Time. J Autism Dev Disord ;2020 (Sep 23)

This longitudinal study examined the transactional relations between parenting stress and both internalizing and externalizing behavioral problems in young children with autism spectrum disorder (ASD) over 1.5 years using a cross-lagged panel analysis. Participants included 75 young children with ASD (Time 1 ; mean age = 25.68 months) and their parents. Parenting stress that was related to parent’s perceptions on child characteristics was found to predict externalizing behavioral problems in young children with ASD across two time points. However, behavioral problems in young children with ASD did not predict parenting stress. These findings provide implications for early intervention and family services for young children with ASD and their families.

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20. Liu J, Wang Z, Xu K, Ji B, Zhang G, Wang Y, Deng J, Xu Q, Xu X, Liu H. Early Screening of Autism in Toddlers via Response-To-Instructions Protocol. IEEE Trans Cybern ;2020 (Sep 23) ;Pp

Early screening of autism spectrum disorder (ASD) is crucial since early intervention evidently confirms significant improvement of functional social behavior in toddlers. This article attempts to bootstrap the response-to-instructions (RTIs) protocol with vision-based solutions in order to assist professional clinicians with an automatic autism diagnosis. The correlation between detected objects and toddler’s emotional features, such as gaze, is constructed to analyze their autistic symptoms. Twenty toddlers between 16-32 months of age, 15 of whom diagnosed with ASD, participated in this study. The RTI method is validated against human codings, and group differences between ASD and typically developing (TD) toddlers are analyzed. The results suggest that the agreement between clinical diagnosis and the RTI method achieves 95% for all 20 subjects, which indicates vision-based solutions are highly feasible for automatic autistic diagnosis.

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21. Marino F, Chilà P, Failla C, Crimi I, Minutoli R, Puglisi A, Arnao AA, Tartarisco G, Ruta L, Vagni D, Pioggia G. Tele-Assisted Behavioral Intervention for Families with Children with Autism Spectrum Disorders : A Randomized Control Trial. Brain Sci ;2020 (Sep 18) ;10(9)

BACKGROUND : Telehealth is useful for both autism spectrum disorder (ASD) diagnosis and treatment, but studies with a direct comparison between teletherapy and traditional in-person therapy are limited. METHODS : This randomized control trial-ISRCTN (International Standard Randomised Controlled Trial Number) primary clinical trial registry ID ISRCTN15312724-was aimed at comparing the effect of a tele-assisted and in-person intervention based on a behavioral intervention protocol for families with children affected by ASDs. Forty-two parents with children with autism (30 months to 10 years old) were randomly assigned to 12 sessions of an applied behavioral analysis (ABA) intervention implemented in an individual and group setting, either with or without the inclusion of tele-assistance. Pre- and postintervention assessments were conducted using the Home Situation Questionnaire (HSQ-ASD) and the Parental Stress Index (PSI/SF). RESULTS : Substantial improvements in the perception and management of children’s behavior by parents, as well as in the influence of a reduction in parent stress levels on said children’s behavior through the use of a tele-assisted intervention, were obtained. CONCLUSIONS : This randomized controlled trial demonstrates the evidence-based potential for telehealth to improve treatment of ASDs.

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22. Riccio A, Kapp SK, Jordan A, Dorelien AM, Gillespie-Lynch K. How is autistic identity in adolescence influenced by parental disclosure decisions and perceptions of autism ?. Autism ;2020 (Sep 24):1362361320958214.

There is a lot of research about how parents think about their child’s autism but we don’t know much about how parents talk with their kids about autism. How parents talk with their kids about autism may shape how kids see autism. A team of autistic and non-autistic people (including a mother of an autistic person) did a study. We wanted to know if how parents talk with their kids about autism shapes how their kids see autism. Nineteen teens from a summer camp did interviews and surveys. Their mothers did surveys. Teens learned about if they had autism in different ways. Some teens still didn’t know they were autistic. Teens whose moms chose to tell them about their autism talked about autism and themselves more positively than teens whose moms didn’t choose to talk with them about autism. Only teens whose moms chose to talk with them about autism described themselves as having social strengths. Teens had a harder time defining autism than moms. However, teens and moms talked about autism in similar ways. Our study shows that parents can help their kids see autism and themselves more positively by talking with their kids about autism early in development.

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23. Rieffe C, O’Connor R, Bülow A, Willems D, Hull L, Sedgewick F, Stockmann L, Blijd-Hoogewys E. Quantity and quality of empathic responding by autistic and non-autistic adolescent girls and boys. Autism ;2020 (Sep 24):1362361320956422.

Empathy is an important feature to feel for another person, evoking social support for the person in distress, and thus strengthening social cohesion. The question is to what extent empathic reactions can also be observed in autistic adolescents and autistic girls in particular, since their often mentioned good social skills might prevent their direct social environment from recognizing their autism. We examined 194 adolescents (autistic and non-autistic boys and girls) during an in vivo task in which the experimenter pretended to hurt herself while closing a binder. All responses by the participants were videotaped and coded by two independent coders. In line with our predictions, no group or gender differences appeared related to their attention for the event ; yet autistic girls and boys showed less visible emotional arousal, which could indicate less affective empathy (feeling for someone), or which could indicate that autistic adolescents know less well how to show empathy. Autistic girls and boys reacted by comforting the experimenter equally often as their non-autistic peers, but autistic boys addressed the problem more often than any other group, while girls (autistic and non-autistic) more often addressed the emotion of the person in need. Our findings highlight that empathic behaviour is remarkably similar between autistic and non-autistic boys and girls. Indeed, only subtle differences exist, in terms of expressed emotional arousal and gender-specific comforting styles. Autistic girls’ higher levels of emotion-focused comforting could be explained by well-developed social skills, camouflaging, or emotional investment in relationships with others.

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24. Saré RM, Smith CB. Association Between Sleep Deficiencies with Behavioral Problems in Autism Spectrum Disorder : Subtle Sex Differences. Autism Res ;2020 (Sep 15)

Sleep problems are prevalent in people with autism spectrum disorder (ASD). Several studies have shown an association between sleep problems and severity of ASD-related behaviors. Most of these studies have not addressed potential sex differences either in the prevalence of the sleep problems or in their association with the manifestation of other behavioral issues in ASD. Given the strong prevalence of ASD in males, we thought it important to address whether sex differences exist in this realm. We examined the association of sleep problems with the severity of ASD-behavioral measures in a large data set collected from an online phenotyping project : Simons Foundation Powering Autism Research for Knowledge. We confirmed a high prevalence of sleep problems in ASD and a strong association between sleep problems and severity of other ASD-related behaviors. Furthermore, we were able to detect sex differences in these associations. In children with ASD, there was a slightly stronger association between repetitive behaviors and diagnosed sleep problems in females compared to males. In children without diagnosed ASD (undiagnosed siblings), there was a stronger association between sleep problems and impairments in social communication in males compared to females. These data highlight potential sex differences in the association of sleep problems and behavioral problems in ASD. LAY SUMMARY : We tested for sex differences in the association between sleep deficiencies and behavior in autism spectrum disorder (ASD). In children with ASD, we found the association between sleep problems and repetitive behaviors was slightly stronger in females. In siblings without diagnosed ASD, the association between sleep problems and social communication scores was stronger in males. These data suggest that sex might play a role in an association between sleep deficiencies and behavioral impairments.

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