1. Adornetti I, Chiera A, Deriu V, Altavilla D, Lucentini S, Marini A, Valeri G, Magni R, Vicari S, Ferretti F. {{An investigation of visual narrative comprehension in children with autism spectrum disorders}}. {Cognitive processing}. 2020.
The present study analyzed the comprehension of visual narrative in a group of twelve children with autism spectrum disorders (ASD). Their performances were compared to a control group of fifteen children with typical development (TD) matched for age, level of formal education, and IQ. Visual narrative comprehension was assessed by administering a task that required children to understand narrative’s global coherence by arranging in the correct order the constituent parts of stories presented in pictures. Specifically, the task evaluated children’s ability to grasp how single events connected (causally and temporally) each other and how these connections led to the ending of the story. Results showed that children with ASD obtained significantly lower scores than children with TD. These results open to alternative interpretations of narrative impairments often reported in individuals with ASD, which might not be restricted to the linguistic code but stem from a deeper deficit in narrative processing that is independent from the expressive modality.
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2. Andres-Roqueta C, Katsos N. {{A Distinction Between Linguistic and Social Pragmatics Helps the Precise Characterization of Pragmatic Challenges in Children With Autism Spectrum Disorders and Developmental Language Disorder}}. {Journal of speech, language, and hearing research : JSLHR}. 2020: 1-15.
Purpose Children with autism spectrum disorders (ASDs) and children with developmental language disorder (DLD) face challenges with pragmatics, but the nature and sources of these difficulties are not fully understood yet. The purpose of this study was to compare the competence of children with ASD and children with DLD in two pragmatics tasks that place different demands on theory of mind (ToM) and structural language. Method Twenty Spanish-speaking children with ASD, 20 with DLD, and 40 age- and language-matched children with neurotypical development were assessed using two pragmatics tasks: a linguistic pragmatics task, which requires competence with structural language, and a social pragmatics task, which requires competence with ToM as well. Results For linguistic pragmatics, the ASD group performed similarly to the DLD and language-matched groups, and performance was predicted by structural language. For social pragmatics, the ASD group performed lower than the DLD and language-matched groups, and performance was predicted both by structural language and ToM. Conclusions Children with ASD and children with DLD face difficulties in linguistic pragmatics tasks, in keeping with their structural language. Children with ASD face exceptional difficulties with social pragmatics tasks, due to their difficulties with ToM. The distinction between linguistic and social pragmatic competences can inform assessment and intervention for pragmatic difficulties in different populations.
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3. Bellato A, Arora I, Kochhar P, Hollis C, Groom MJ. {{Atypical Electrophysiological Indices of Eyes-Open and Eyes-Closed Resting-State in Children and Adolescents with ADHD and Autism}}. {Brain Sci}. 2020; 10(5).
Investigating electrophysiological measures during resting-state might be useful to investigate brain functioning and responsivity in individuals under diagnostic assessment for attention deficit hyperactivity disorder (ADHD) and autism. EEG was recorded in 43 children with or without ADHD and autism, during a 4-min-long resting-state session which included an eyes-closed and an eyes-open condition. We calculated and analyzed occipital absolute and relative spectral power in the alpha frequency band (8-12 Hz), and alpha reactivity, conceptualized as the difference in alpha power between eyes-closed and eyes-open conditions. Alpha power was increased during eyes-closed compared to eyes-open resting-state. While absolute alpha power was reduced in children with autism, relative alpha power was reduced in children with ADHD, especially during the eyes-closed condition. Reduced relative alpha reactivity was mainly associated with lower IQ and not with ADHD or autism. Atypical brain functioning during resting-state seems differently associated with ADHD and autism, however further studies replicating these results are needed; we therefore suggest involving research groups worldwide by creating a shared and publicly available repository of resting-state EEG data collected in people with different psychological, psychiatric, or neurodevelopmental conditions, including ADHD and autism.
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4. Bouck EC, Long H. {{Teaching students with intellectual and developmental disabilities to calculate cost after discounts via schematic diagrams}}. {Res Dev Disabil}. 2020; 102: 103656.
BACKGROUND/AIMS/METHODS: Life skills instruction is important for students with intellectual and developmental disabilities (IDD) and an emerging research base exists in which schema instruction is used to support students with IDD. In this single-case multiple probe across participants study, researchers explored the use of a schematic diagram in conjunction with the system of least prompts (SLP) to support the acquisition, fluency, maintenance, and generalization of life skills mathematics for secondary students with IDD. PROCEDURES/OUTCOMES: Researchers collected data relative to student accuracy and independence in solving problems involving finding the cost of an item after a discount (i.e., sale or coupon). Researchers collected data across baseline, intervention, maintenance, and generalization phases. RESULTS/CONCLUSION: Researchers found a functional relation between the intervention package and accuracy for all three students. Students were successful with the schematic diagram, however, the data for generalization to when no schema was provided were more idiosyncratic. IMPLICATIONS: This research holds implications for the use of a schematic diagram to support students with IDD learning life-skills mathematical problem solving.
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5. Chiarotti F, Venerosi A. {{Epidemiology of Autism Spectrum Disorders: A Review of Worldwide Prevalence Estimates Since 2014}}. {Brain Sci}. 2020; 10(5).
The prevalence of Autism Spectrum Disorder (ASD) has increased dramatically in recent decades, supporting the claim of an autism epidemic. Systematic monitoring of ASD allows estimating prevalence and identifying potential sources of variation over time and geographical areas. At present, ASD prevalence estimates are available worldwide, coming either from surveillance systems using existing health and educational databases or from population studies specifically performed. In the present article, we present a review of the ASD prevalence estimates published since 2014. Data confirm a high variability in prevalence across the world, likely due to methodological differences in case detection, and the consistent increase of prevalence estimates within each geographical area.
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6. Donovan J. {{Childbirth Experiences of Women With Autism Spectrum Disorder in an Acute Care Setting}}. {Nursing for women’s health}. 2020.
OBJECTIVE: To describe the childbirth experiences of women with autism spectrum disorder. DESIGN: Qualitative interpretive description design and data analysis using Knafl and Webster. SETTING: Women were interviewed in the environment of their choosing: in the home, over the telephone, or via Skype or Facebook Messenger. PARTICIPANTS: Twenty-four women ages 29 to 65 years from the United States, United Kingdom, and Australia, all of whom gave birth to healthy newborns in an acute care setting. METHOD: Interviews were conducted using a semistructured interview guide. RESULTS: Three main themes emerged from the data: Having Difficulty Communicating, Feeling Stressed in an Uncertain Environment, and Being an Autistic Mother. Each of these themes also included several subthemes. CONCLUSION: Study participants expressed difficulty communicating with nurses in a variety of ways. The degree of difficulty in communication varied among participants. Problems in communication included trouble conveying needs, alerting nurses when they felt ill, or not understanding what was said to them. Ineffective communication with nurses resulted in feelings of anxiety and being scared and inhibited participants in further attempts at communication. Nurses caring for women with ASD through the childbirth period should be aware that communication needs will vary for each woman, and interventions to facilitate safe and effective communication in labor should be individualized to each woman.
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7. Fabio RA, Gangemi A, Semino M, Vignoli A, Canevini MP, Priori A, Rosa GD, Capri T. {{Effects of Combined Transcranial Direct Current Stimulation with Cognitive Training in Girls with Rett Syndrome}}. {Brain Sci}. 2020; 10(5).
BACKGROUND: Transcranial Direct Current Stimulation (tDCS) combined with traditional rehabilitative techniques has not been widely applied to Rett Syndrome (RTT). The aim of this study was to examine the effects of combined cognitive traditional training with tDCS applied to attention and language measures in subjects with RTT. METHODS: 31 subjects with RTT were randomly allocated into two groups: non-sham tDCS (n = 18) and sham tDCS (n = 13). The former received the integrated intervention non-sham tDCS plus cognitive empowerment during the treatment phase. The latter received sham stimulation plus cognitive empowerment. All participants underwent neurological and cognitive assessment to evaluate attention and language measures: before integrated treatment (pre-test phase), at the conclusion of the treatment (post-test phase), and at 1 month after the conclusion of the treatment (follow-up phase). RESULTS: the results indicated longer attention time in the non-sham tDCS group compared to the sham tDCS group with a stable trend also in the follow-up phase; an increase of the number of vowel/phoneme sounds in the non-sham tDCS group; and an improvement in the neurophysiological parameters in the non-sham tDCS group. CONCLUSIONS: This study supports the use of tDCS as a promising and alternative approach in the RTT rehabilitation field.
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8. Gepner B, Godde A, Charrier A, Carvalho N, Tardif C. {{Reducing facial dynamics’ speed during speech enhances attention to mouth in children with autism spectrum disorder: An eye-tracking study}}. {Development and psychopathology}. 2020: 1-10.
Facial movements of others during verbal and social interaction are often too rapid to be faced and/or processed in time by numerous children and adults with autism spectrum disorder (ASD), which could contribute to their face-to-face interaction peculiarities. We wish here to measure the effect of reducing the speed of one’s facial dynamics on the visual exploration of the face by children with ASD. Twenty-three children with ASD and 29 typically-developing control children matched for chronological age passively viewed a video of a speaker telling a story at various velocities, i.e., a real-time speed and two slowed-down speeds. The visual scene was divided into four areas of interest (AOI): face, mouth, eyes, and outside the face. With an eye-tracking system, we measured the percentage of total fixation duration per AOI and the number and mean duration of the visual fixations made on each AOI. In children with ASD, the mean duration of visual fixations on the mouth region, which correlated with their verbal level, increased at slowed-down velocity compared with the real-time one, a finding which parallels a result also found in the control children. These findings strengthen the therapeutic potential of slowness for enhancing verbal and language abilities in children with ASD.
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9. He C, Chen H, Uddin LQ, Erramuzpe A, Bonifazi P, Guo X, Xiao J, Chen H, Huang X, Li L, Sheng W, Liao W, Cortes JM, Duan X. {{Structure-Function Connectomics Reveals Aberrant Developmental Trajectory Occurring at Preadolescence in the Autistic Brain}}. {Cereb Cortex}. 2020.
Accumulating neuroimaging evidence shows that age estimation obtained from brain connectomics reflects the level of brain maturation along with neural development. It is well known that autism spectrum disorder (ASD) alters neurodevelopmental trajectories of brain connectomics, but the precise relationship between chronological age (ChA) and brain connectome age (BCA) during development in ASD has not been addressed. This study uses neuroimaging data collected from 50 individuals with ASD and 47 age- and gender-matched typically developing controls (TDCs; age range: 5-18 years). Both functional and structural connectomics were assessed using resting-state functional magnetic resonance imaging and diffusion tensor imaging data from the Autism Brain Imaging Data Exchange repository. For each participant, BCA was estimated from structure-function connectomics through linear support vector regression. We found that BCA matched well with ChA in TDC children and adolescents, but not in ASD. In particular, our findings revealed that individuals with ASD exhibited accelerated brain maturation in youth, followed by a delay of brain development starting at preadolescence. Our results highlight the critical role of BCA in understanding aberrant developmental trajectories in ASD and provide the new insights into the pathophysiological mechanisms of this disorder.
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10. Islam F, Lee W. {{A Case of Generalized Chorea Presenting as an Early Feature of Fragile-X Associated Tremor/Ataxia Syndrome}}. {Movement disorders clinical practice}. 2020; 7(4): 464-6.
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11. Kang YQ, Song XR, Wang GF, Su YY, Li PY, Zhang X. {{Sleep Problems Influence Emotional/Behavioral Symptoms and Repetitive Behavior in Preschool-Aged Children With Autism Spectrum Disorder in the Unique Social Context of China}}. {Frontiers in psychiatry}. 2020; 11: 273.
Sleep disturbances are common in people with autism spectrum disorder (ASD), but research on this topic is still limited in China. In the current study, we evaluated the prevalence of sleep problems in preschool-aged children with ASD and to examine the correlations between sleep disturbances and emotional/behavioral symptoms and repetitive behavior in the unique social context of China. This study recruited 475 preschool-aged children aged 3-6 years old, including 252 children with ASD (mean age 5.13 +/- 1.15, 80.6% male) and 223 age-matched typically developing (TD) children (mean age 5.12 +/- 0.97, 74.9% male). The parents of all children completed a sociodemographic questionnaire and the Childhood Sleep Habits Questionnaire. The parents of 114 ASD children completed the Strengths and Difficulties Questionnaire (SDQ) and the Repetitive Behavioral Questionnaire-2 (RBQ-2). The prevalence of sleep problems in preschool-aged children with ASD in this study was 81.7%, which was higher than that in TD children (61.0%). The scores for bedtime resistance, sleep anxiety, sleep duration, parasomnias, and sleep onset delay in the ASD group were significantly higher than those in the TD group (t=-7.664, P=0.000; t=-10.477, P=0.000; t=-4.133, P=0.000; Z=-3.916, P=0.000; Z=-7.093, P=0.000; respectively). Sleep onset delay explained 17.3% of the variance (adjusted R(2) = 0.173) in the total SDQ score of children with ASD, and bedtime resistance explained a large proportion of total RBQ-2 score variance (adjusted R(2) = 0.206). The high rate of sleep disturbances in preschool-aged children with ASD emphasizes the importance of screening for sleep problems in this population. Attention should also be directed toward formulating good sleep hygiene practices for preschool-aged children in the particular social context and cultural setting of China.
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12. MacDuffie KE, Shen MD, Dager SR, Styner MA, Kim SH, Paterson S, Pandey J, St John T, Elison JT, Wolff JJ, Swanson MR, Botteron KN, Zwaigenbaum L, Piven J, Estes AM. {{Sleep Onset Problems and Subcortical Development in Infants Later Diagnosed With Autism Spectrum Disorder}}. {Am J Psychiatry}. 2020: appiajp201919060666.
OBJECTIVE: Sleep patterns in children with autism spectrum disorder (ASD) appear to diverge from typical development in the second or third year of life. Little is known, however, about the occurrence of sleep problems in infants who later develop ASD and possible effects on early brain development. In a longitudinal neuroimaging study of infants at familial high or low risk for ASD, parent-reported sleep onset problems were examined in relation to subcortical brain volumes in the first 2 years of life. METHODS: A total of 432 infants were included across three study groups: infants at high risk who developed ASD (N=71), infants at high risk who did not develop ASD (N=234), and infants at low risk (N=127). Sleep onset problem scores (derived from an infant temperament measure) were evaluated in relation to longitudinal high-resolution T1 and T2 structural imaging data acquired at 6, 12, and 24 months of age. RESULTS: Sleep onset problems were more common at 6-12 months among infants who later developed ASD. Infant sleep onset problems were related to hippocampal volume trajectories from 6 to 24 months only for infants at high risk who developed ASD. Brain-sleep relationships were specific to the hippocampus; no significant relationships were found with volume trajectories of other subcortical structures examined (the amygdala, caudate, globus pallidus, putamen, and thalamus). CONCLUSIONS: These findings provide initial evidence that sleep onset problems in the first year of life precede ASD diagnosis and are associated with altered neurodevelopmental trajectories in infants at high familial risk who go on to develop ASD. If replicated, these findings could provide new insights into a potential role of sleep difficulties in the development of ASD.
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13. Myers SM, Challman TD, Bernier R, Bourgeron T, Chung WK, Constantino JN, Eichler EE, Jacquemont S, Miller DT, Mitchell KJ, Zoghbi HY, Martin CL, Ledbetter DH. {{Insufficient Evidence for « Autism-Specific » Genes}}. {Am J Hum Genet}. 2020; 106(5): 587-95.
Despite evidence that deleterious variants in the same genes are implicated across multiple neurodevelopmental and neuropsychiatric disorders, there has been considerable interest in identifying genes that, when mutated, confer risk that is largely specific for autism spectrum disorder (ASD). Here, we review the findings and limitations of recent efforts to identify relatively « autism-specific » genes, efforts which focus on rare variants of large effect size that are thought to account for the observed phenotypes. We present a divergent interpretation of published evidence; discuss practical and theoretical issues related to studying the relationships between rare, large-effect deleterious variants and neurodevelopmental phenotypes; and describe potential future directions of this research. We argue that there is currently insufficient evidence to establish meaningful ASD specificity of any genes based on large-effect rare-variant data.
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14. Salcedo-Arellano MJ, Wolf-Ochoa MW, Hong T, Amina S, Tassone F, Lechpammer M, Hagerman R, Martinez-Cerdeno V. {{Parkinsonism Versus Concomitant Parkinson’s Disease in Fragile X-Associated Tremor/Ataxia Syndrome}}. {Movement disorders clinical practice}. 2020; 7(4): 413-8.
Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. FXTAS is characterized by the presence of ubiquitin-positive inclusions in neurons and astrocytes and by cerebellar tremor and ataxia. Parkinsonism has been reported in FXTAS, but most patients lack the characteristic rest tremor and severe rigidity seen in idiopathic Parkinson’s disease (PD). Objective: To describe the frequency of concomitant PD in FXTAS. Methods: We reviewed the medical record of 40 deceased patients diagnosed with FXTAS and performed a pathology analysis to confirm both FXTAS and PD. Results: Clinical histories indicated that 5 FXTAS patients were diagnosed with idiopathic PD and 2 with atypical parkinsonian syndrome. After pathological examination, we found that 7 patients in the PD clinical diagnosis group had dopaminergic neuronal loss; however, only 2 of 7 presented Lewy bodies (LBs) in the substantia nigra. Therefore, a total of 5% of the 40 cohort patients met the pathologic criteria for the concomitant diagnosis of FXTAS and PD. In addition, 2 patients not clinically diagnosed with PD also had nigral neuronal loss with LBs in substantia nigra. In total 10% of these 40 patients had LBs. Conclusion: This report expands our understanding of clinical symptoms and unusual presentations in patients with FXTAS and the concept that the parkinsonism found in FXTAS is sometimes indistinguishable from PD. We propose that FMR1 should be recognized as one of the exceptional genetic causes of parkinsonism with presynaptic dopaminergic loss and LBs.
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15. Shalev M, Hetzroni OE. {{Factors predicting school staff’s responsivity toward students with intellectual and developmental disability and complex communication needs}}. {Res Dev Disabil}. 2020; 102: 103677.
BACKGROUND: Children with significant intellectual and developmental disabilities (IDD) are characterized by substantial language delays. Responsivity, the quantity and quality of the communication partner’s responses to child’s behaviors, is a key component in communication development. AIMS: The aim of the study was to map multidimensional factors predicting school staff’s responsivity toward communication of students with IDD with complex communication needs. METHOD: Interactions between 120 school staff members and 43 students ages 9-16, were videotaped, during group and individual routine sessions in school. Staff’s behaviors were transcribed and coded to form responsivity scores. Statistical tests were performed to map variables predicting staff’s responsivity. RESULTS: Analysis revealed the type of session (individual/group) as a main predictor of responsivity. Separate analysis of individual and group sessions revealed that while in the individual session students’ speech level was the main predictor for responsivity, in group sessions, group size, number of sessions per week, staff’s attitudes and students’ disability level were among the variables predicting responsivity. CONCLUSIONS: Results emphasize group setting as more complex where multidimensional factors influence the communication process, whereas students’ speech ability is important in promoting staff’s responsivity in individual sessions. Implications for designing conditions to promote responsivity are discussed.
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16. Shen L, Zhou Y. {{Epistemic Egocentrism and Processing of Vaccine Misinformation (Vis-a-vis Scientific Evidence): The Case of Vaccine-Autism Link}}. {Health Commun}. 2020: 1-12.
A web-based 2 (preexisting position: vaccine-inclined vs. -hesitant) by 2 (message type: scientific evidence vs. misinformation) experimental study was conducted to investigate individuals’ processing of misinformation (vis-a-vis scientific evidence) on the vaccine-autism link within the framework of epistemic egocentrism. Data (N = 996) collected with Qualtrics panel demonstrated that preexisting position shaped individuals’ responses to vaccine-related messages differently such that vaccine-hesitant individuals processed the message more superficially while vaccine-inclined individuals more systematically. There was evidence that involvement moderated information processing. Vaccine-hesitant and -inclined individuals’ intentions to seek further information and to engage others with opposite views in public deliberation were shaped by message perception and source perceptions (trustworthiness and expertise), but in different patterns. Implications of the findings for vaccine-related health communication are discussed.
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17. Sutantio JD, Pusponegoro HD, Sekartini R. {{Validity of Telemedicine for Diagnosing Autism Spectrum Disorder: Protocol-Guided Video Recording Evaluation}}. {Telemedicine journal and e-health : the official journal of the American Telemedicine Association}. 2020.
Background: Delayed diagnosis of autism spectrum disorder (ASD) remains a persistent pediatric health problem, due to limited access to competent diagnosticians and tertiary health care. A telemedicine method using a store-and-forward approach presents an opportunity to facilitate early identification and referral for intervention. This study aimed to evaluate the validity of protocol-guided video recording compared with direct assessment (DA) for diagnosing ASD. Materials and Methods: Children aged 18-30 months with chief complaints of delayed speech or social indifference, and Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) score of more than two were included. Parents were instructed to video record certain scenarios, which were assessed by an experienced professional based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) checklist for ASD. DAs using DSM-5 criteria were considered to be the gold standard of diagnosis. Diagnostic agreement, sensitivity, specificity, predictive values, and likelihood ratios were calculated to measure diagnostic validity. Results: The diagnostic agreement between the two methods was 82.5%. The sensitivity of video recording for diagnosing ASD was 91.3% (95% confidence interval [CI] [79.7%-100%]), while the specificity was 70.6% (95% CI [48.9%-92.2%]). The positive predictive value was 80.7% (95% CI [65.6%-95.9%]), while the negative predictive value was 85.7% (95% CI [67.4%-100%]). The positive likelihood ratio was 3.1 (95% CI [1.47-6.5]), while the negative likelihood ratio was 0.16 (95% CI [0.03-0.47]). Conclusions: A telemedicine approach using protocol-guided video recording evaluation has substantial validity compared with DA for diagnosing ASD.
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18. Taylor MJ, Rosenqvist MA, Larsson H, Gillberg C, D’Onofrio BM, Lichtenstein P, Lundstrom S. {{Etiology of Autism Spectrum Disorders and Autistic Traits Over Time}}. {JAMA Psychiatry}. 2020.
Importance: The frequency with which autism spectrum disorders (ASDs) are diagnosed has shown a marked increase in recent years. One suggestion is that this is partly because of secular changes in the environment, yet to our knowledge this hypothesis lacks evidence. Objective: To assess whether the relative importance of genetic and environmental associations with ASD and autistic traits has changed over a 16-year and 26-year period. Design, Setting, and Participants: A twin design was used to assess whether the heritability of ASD and autistic traits has changed over time. Data from 2 nationwide Swedish twin cohorts was used: the Swedish Twin Registry (STR; participants born between January 1982 and December 2008) and the Child and Adolescent Twin Study in Sweden (CATSS; participants born between January 1992 and December 2008). Autism spectrum disorder diagnoses were identified for twins in the STR, with follow-up to 2013. Questionnaires assigned screening diagnoses of ASD to CATSS participants and assessed autistic traits. Analyses were performed from September 1, 2018, to March 31, 2019. Exposures: Each sample was divided into several birth cohorts covering 1982 to 1991 (for the STR only), 1992-1995, 1996-1999, 2000-2003, and 2004-2008. Outcomes: We assessed whether the genetric and environment variance underlying autistic traits changed across birth cohorts and examined whether the relative contribution of genetics and environment to liability for autism changed across birth cohorts. Results: Data were available for 22678 twin pairs (5922 female same-sex pairs [26.1%], 5563 male same-sex pairs [24.5%], and 11193 opposite-sex pairs [49.4%]) in the STR and 15280 pairs (4880 female same-sex pairs [31.9%], 5092 male same-sex pairs [33.3%], and 5308 opposite-sex pairs [34.7%]) in CATSS. The heritability of ASD diagnoses in the STR ranged from 0.88 (95% CI, 0.74-0.96) to 0.97 (95% CI, 0.89-0.99). The heritability of screening diagnoses in CATSS varied from 0.75 (95% CI, 0.58-0.87) to 0.93 (95% CI, 0.84-0.98). Autistic traits showed a modest variance increase over time that was associated with increases in genetic and environmental variance, with the total variance increasing from 0.95 (95% CI, 0.92-0.98) to 1.17 (95% CI, 1.13-1.21) over time. Conclusions and Relevance: Weak evidence was found for changes in the genetic and environmental factors underlying ASD and autistic traits over time. Genetic factors played a consistently larger role than environmental factors. Environmental factors are thus unlikely to explain the increase in the prevalence of ASD.
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19. van Noordt S, Desjardins JA, Huberty S, Abou-Abbas L, Webb SJ, Levin AR, Segalowitz SJ, Evans AC, Elsabbagh M. {{EEG-IP: an international infant EEG data integration platform for the study of risk and resilience in autism and related conditions}}. {Molecular medicine (Cambridge, Mass)}. 2020; 26(1): 40.
BACKGROUND: Establishing reliable predictive and diganostic biomarkers of autism would enhance early identification and facilitate targeted intervention during periods of greatest plasticity in early brain development. High impact research on biomarkers is currently limited by relatively small sample sizes and the complexity of the autism phenotype. METHODS: EEG-IP is an International Infant EEG Data Integration Platform developed to advance biomarker discovery by enhancing the large scale integration of multi-site data. Currently, this is the largest multi-site standardized dataset of infant EEG data. RESULTS: First, multi-site data from longitudinal cohort studies of infants at risk for autism was pooled in a common repository with 1382 EEG longitudinal recordings, linked behavioral data, from 432 infants between 3- to 36-months of age. Second, to address challenges of limited comparability across independent recordings, EEG-IP applied the Brain Imaging Data Structure (BIDS)-EEG standard, resulting in a harmonized, extendable, and integrated data state. Finally, the pooled and harmonized raw data was preprocessed using a common signal processing pipeline that maximizes signal isolation and minimizes data reduction. With EEG-IP, we produced a fully standardized data set, of the pooled, harmonized, and pre-processed EEG data from multiple sites. CONCLUSIONS: Implementing these integrated solutions for the first time with infant data has demonstrated success and challenges in generating a standardized multi-site data state. The challenges relate to annotation of signal sources, time, and ICA analysis during pre-processing. A number of future opportunities also emerge, including validation of analytic pipelines that can replicate existing findings and/or test novel hypotheses.
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20. Vega ML, Newport GC, Bozhdaraj D, Saltz SB, Nemeroff CB, Newport DJ. {{Implementation of Advanced Methods for Reproductive Pharmacovigilance in Autism: A Meta-Analysis of the Effects of Prenatal Antidepressant Exposure}}. {Am J Psychiatry}. 2020: appiajp202018070766.
OBJECTIVE: Observational studies of prenatal antidepressant safety are hindered by methodological concerns, including susceptibility to surveillance bias. Some studies address potential bias by using alternative strategies to operationalize study comparison groups. In a meta-analysis of the association between prenatal antidepressant exposure and autism risk, the authors examined the utility of comparison group operationalization in reducing surveillance bias. METHODS: A systematic search of multiple databases through August 2017 was conducted, selecting controlled observational studies of the association of prenatal antidepressant exposure with autism. Study quality was assessed using the Newcastle-Ottawa Scale. Random-effects meta-analysis produced summary effect measures with 95% confidence intervals stratified by comparator group composition, antidepressant class, and trimester of exposure. RESULTS: Fourteen studies were included, with 13 reporting results using a population-based comparison group, five using a psychiatric control group, and four using a discordant-sibling control group. Eight of the 14 studies were rated poor because of inadequate control for prenatal depression and maternal ethnicity. Autism risk estimates after prenatal exposure to any antidepressant were decidedly different for population-based designs (hazard ratio=1.42, 95% CI=1.18, 1.70; odds ratio=1.58, 95% CI=1.25, 1.99) compared with psychiatric control (hazard ratio=1.14, 95% CI=0.84, 1.53; odds ratio=1.24, 95% CI=0.93, 1.66) and discordant-sibling (hazard ratio=0.97, 95% CI=0.68, 1.37; odds ratio=0.85, 95% CI=0.54, 1.35) designs. Findings for prenatal exposure to selective serotonin reuptake inhibitors were similar. Meta-regression of population-based studies demonstrated that despite statistical adjustment, ethnicity differences remained a significant source of study heterogeneity. CONCLUSIONS: In this meta-analysis, neither psychiatric control nor discordant-sibling designs supported an association between prenatal antidepressant exposure and autism. Discordant-sibling designs effectively addressed surveillance bias in pharmacovigilance reports derived from national registries and other large databases.
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21. Wallis KE, Guthrie W, Bennett AE, Gerdes M, Levy SE, Mandell DS, Miller JS. {{Adherence to screening and referral guidelines for autism spectrum disorder in toddlers in pediatric primary care}}. {PLoS One}. 2020; 15(5): e0232335.
OBJECTIVES: Although the American Academy of Pediatrics recommends screening for autism spectrum disorder (ASD) for all young children, disparities in ASD diagnosis and intervention in minority children persist. One potential contributor to disparities could be whether physicians take different actions after an initial positive screen based on patient demographics. This study estimated factors associated with physicians completing the follow-up interview for the Modified Checklist for Autism in Toddlers with Follow-up (M-CHAT-F), and referring children to diagnostic services, audiology, and Early Intervention (EI) immediately after a positive screen. METHODS: Children seen in a large primary care network that has implemented universal ASD screening were included if they screened positive on the M-CHAT parent questionnaire during a 16-30 month well child visit (N = 2882). Demographics, screening results, and referrals were extracted from the electronic health record. RESULTS: Children from lower-income families or on public insurance were more likely to have been administered the follow-up interview. Among children who screened positive, 26% were already in EI, 31% were newly referred to EI, 11% were referred each to audiology and for comprehensive ASD evaluation. 40.2% received at least one recommended referral; 3.7% received all recommended referrals. In adjusted multivariable models, male sex, white versus black race, living in an English-speaking household, and having public insurance were associated with new EI referral. Male sex, black versus white race, and lower household income were associated with referral to audiology. Being from an English-speaking family, white versus Asian race, and lower household income were associated with referral for ASD evaluation. A concurrent positive screen for general developmental concerns was associated with each referral. CONCLUSIONS: We found low rates of follow-up interview completion and referral after positive ASD screen, with variations in referral by sex, language, socio-economic status, and race. Understanding pediatrician decision-making about ASD screening is critical to improving care and reducing disparities.
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22. Wang Q, Chang J, Chawarska K. {{Atypical Value-Driven Selective Attention in Young Children With Autism Spectrum Disorder}}. {JAMA network open}. 2020; 3(5): e204928.
Importance: Enhanced selective attention toward nonsocial objects and impaired attention to social stimuli constitute key clinical features of autism spectrum disorder (ASD). Yet, the mechanisms associated with atypical selective attention in ASD are poorly understood, which limits the development of more effective interventions. In typically developing individuals, selective attention to social and nonsocial stimuli is associated with the informational value of the stimuli, which is typically learned over the course of repeated interactions with the stimuli. Objective: To examine value learning (VL) of social and nonsocial stimuli and its association with selective attention in preschoolers with and without ASD. Design, Setting, and Participants: This case-control study compared children with ASD vs children with developmental delay (DD) and children with typical development (TD) recruited between March 3, 2017, and June 13, 2018, at a university-based research laboratory. Participants were preschoolers with ASD, DD, or TD. Main Outcomes and Measures: Procedure consisted of an eye-tracking gaze-contingent VL task involving social (faces) and nonsocial (fractals) stimuli and consisting of baseline, training, and choice test phases. Outcome measures were preferential attention to stimuli reinforced (high value) vs not reinforced (low value) during training. The hypotheses were stated before data collection. Results: Included were 115 preschoolers with ASD (n = 48; mean [SD] age, 38.30 [15.55] months; 37 [77%] boys), DD (n = 31; mean [SD] age, 45.73 [19.49] months; 19 [61%] boys), or TD (n = 36; mean [SD] age, 36.53 [12.39] months; 22 [61%] boys). The groups did not differ in sex distribution; participants with ASD or TD had similar chronological age; and participants with ASD or DD had similar verbal IQ and nonverbal IQ. After training, the ASD group showed preference for the high-value nonsocial stimuli (mean proportion, 0.61 [95% CI, 0.56-0.65]; P < .001) but not for the high-value social stimuli (mean proportion, 0.51 [95% CI, 0.46-0.56]; P = .58). In contrast, the DD and TD groups demonstrated preference for the high-value social stimuli (DD mean proportion, 0.59 [95% CI, 0.54-0.64]; P = .001 and TD mean proportion, 0.57 [95% CI, 0.53-0.61]; P = .002) but not for the high-value nonsocial stimuli (DD mean proportion, 0.52 [95% CI, 0.44-0.59]; P = .64 and TD mean proportion, 0.50 [95% CI, 0.44-0.57]; P = .91). Controlling for age and nonverbal IQ, autism severity was positively correlated with enhanced learning in the nonsocial domain (r = 0.22; P = .03) and with poorer learning in the social domain (r = -0.26; P = .01). Conclusions and Relevance: Increased attention to objects in preschoolers with ASD may be associated with enhanced VL in the nonsocial domain. When paired with poor VL in the social domain, enhanced value-driven attention to objects may play a formative role in the emergence of autism symptoms by altering attentional priorities and thus learning opportunities in affected children. Lien vers le texte intégral (Open Access ou abonnement)
23. Woodbury-Smith M, Zarrei M, Wei J, Thiruvahindrapuram B, O’Connor I, Paterson AD, Yuen RKC, Dastan J, Stavropoulos DJ, Howe JL, Thompson A, Parlier M, Fernandez B, Piven J, Anagnostou E, Scherer SW, Vieland VJ, Szatmari P. {{Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees}}. {Am J Med Genet B Neuropsychiatr Genet}. 2020.
Autism spectrum disorder (ASD) is a relatively common childhood onset neurodevelopmental disorder with a complex genetic etiology. While progress has been made in identifying the de novo mutational landscape of ASD, the genetic factors that underpin the ASD’s tendency to run in families are not well understood. In this study, nine extended pedigrees each with three or more individuals with ASD, and others with a lesser autism phenotype, were phenotyped and genotyped in an attempt to identify heritable copy number variants (CNVs). Although these families have previously generated linkage signals, no rare CNV segregated with these signals in any family. A small number of clinically relevant CNVs were identified. Only one CNV was identified that segregated with ASD phenotype; namely, a duplication overlapping DLGAP2 in three male offspring each with an ASD diagnosis. This gene encodes a synaptic scaffolding protein, part of a group of proteins known to be pathologically implicated in ASD. On the whole, however, the heritable nature of ASD in the families studied remains poorly understood.
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24. Zhang H, Li R, Wen X, Li Q, Wu X. {{Altered Time-Frequency Feature in Default Mode Network of Autism Based on Improved Hilbert-Huang Transform}}. {IEEE journal of biomedical and health informatics}. 2020.
Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder characterized by restricted interests and repetitive behaviors. Non-invasive measurements of brain activity with functional magnetic resonance imaging (fMRI) have demonstrated that the abnormality in the default mode network (DMN) is a crucial neural basis of ASD, but the time-frequency characteristic of the network has not yet been revealed. Hilbert-Huang transform (HHT) is conducive to feature extraction of biomedical signals and has recently been suggested as an effective method to explore the time-frequency feature of the brain activity and mechanism. In this study, the resting-state fMRI dataset of 105 subjects including 59 ASD participants and 46 healthy control (HC) participants were involved in the original time-frequency clustering analysis based on improved HHT and modified k-means clustering with label-replacement. Compared with HC, ASD selectively showed enhanced Hilbert Weight Frequency (HWF) in high frequency bands in crucial regions of the DMN, including the medial prefrontal cortex (MPFC), posterior cingulate cortex (PCC) and anterior cingulate cortex (ACC). Time-frequency clustering analysis revealed altered DMN organization in ASD. In the posterior DMN, the PCC and bilateral precuneus were separated for HC but clustered for ASD; in the anterior DMN, the clusters of ACC, dorsal MPFC, and ventral MPFC were relatively scattered for ASD. This study paves a promising way to uncover the alteration in the DMN of ASD and identify a potential neuroimaging biomarker for diagnostic reference.
