Pubmed du 13/09/20

dimanche 13 septembre 2020

1. Arnett AB, Beighley JS, Kurtz-Nelson EC, Hoekzema K, Wang T, Bernier RA, Eichler EE. Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder. Autism Res ;2020 (Sep 12)

Approximately one-fourth of autism spectrum disorder (ASD) cases are associated with a disruptive genetic variant. Many of these ASD genotypes have been described previously, and are characterized by unique constellations of medical, psychiatric, developmental, and behavioral features. Development of precision medicine care for affected individuals has been challenging due to the phenotypic heterogeneity that exists even within each genetic subtype. In the present study, we identify developmental milestones that predict cognitive and adaptive outcomes for five of the most common ASD genotypes. Sixty-five youth with a known pathogenic variant involving ADNP, CHD8, DYRK1A, GRIN2B, or SCN2A genes participated in cognitive and adaptive testing. Exploratory linear regressions were used to identify developmental milestones that predicted cognitive and adaptive outcomes within each gene group. We hypothesized that the earliest and most predictive milestones would vary across gene groups, but would be consistent across outcomes within each genetic subtype. Within the ADNP group, age of walking predicted cognitive outcomes, while age of first words predicted adaptive behaviors. Age of phrases predicted adaptive functioning in the CHD8 group, but cognitive outcomes were not clearly associated with early developmental milestones. Verbal milestones were the strongest predictors of cognitive and adaptive outcomes for individuals with mutations to DYRK1A, GRIN2B, or SCN2A. These trends inform decisions about treatment planning and long-term expectations for affected individuals, and they add to the growing body of research linking molecular genetic function to brain development and phenotypic outcomes. LAY SUMMARY : Researchers have found many genetic causes of autism including mutations to ADNP, CHD8, DYRK1A, GRIN2B, and SCN2A genes. We found that each genetic cause had different early developmental milestones that explained the overall functioning of the children when they were older. Depending on the genetic cause, the age that a child first starts walking and/or talking may help to better understand and support a child’s development who has a mutation to one of the above genes.

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2. Ashtari A, Yadegari F, Samadi SA, Watson LR. Sequential Associations Between Communication Acts of Children With and Without Autism Spectrum Disorder and Maternal Verbal Responses. Autism Res ;2020 (Sep 12)

In this study, the sequential associations between child communication acts, including spontaneous communication (SC) and elicited communication (EC), and the types of verbal responses of Iranian mothers (follow-in nondirective, follow-in directive, and redirective responses) were compared between children with autism spectrum disorder (ASD) and young typically developing (TD) children. Participants were 29 children with ASD aged 3-6 years and 40 TD children aged 13-18 months, matched on expressive vocabulary. Using time-window sequential analysis, maternal verbal responses within a time interval of 3 sec following child communication were examined during 15 min of video-recorded mother-child free play interaction. Mothers in the two groups had broadly similar patterns of response to child communication acts, but some differences in responding to child EC. Across both groups, sequential associations were stronger for maternal follow-in nondirective responses to child SC than for this type of response to child EC, and were stronger for follow-in directive responses to child EC than for follow-in directive responses to child SC. Child EC and SC acts were less likely to be followed by redirective responses than other maternal responses, again across both groups. Finally, mothers of children with ASD were more likely than mothers of TD children to follow-in to child EC with both nondirective and directive responses. Our findings suggest that mothers of children with ASD synchronize their responses with their child’s SC acts to the same extent as mothers of TD children, and are more synchronous in responding to their child’s EC acts. LAY SUMMARY : This observational study examined how Iranian mothers verbally responded to their children’s communication acts, based on whether the children’s communication was spontaneous (unprompted) or elicited (prompted by the mother). Mothers of children with autism spectrum disorder or typical development responded to their children’s spontaneous communication acts in similar ways, but showed some differences in responding to children’s elicited communication. By prompting their children to communicate, mothers create opportunities to give additional verbal responses to their children, which may help to support children’s further language development.

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3. Desaunay P, Clochon P, Doidy F, Lambrechts A, Wantzen P, Wallois F, Mahmoudzadeh M, Guile JM, Guénolé F, Baleyte JM, Eustache F, Bowler DM, Guillery-Girard B. Exploring the Event-Related Potentials’ Time Course of Associative Recognition in Autism. Autism Res ;2020 (Sep 12)

Behavioral data on episodic recollection in autism spectrum disorders (ASD) point limited relational memory functioning. However, the involvement of successive memory processes in the profile of episodic memory in ASD needs more study. Here, we used event-related potentials (ERP) to investigate the time course of episodic recollection with an associative recognition paradigm with picture pairs. Twenty-two participants with ASD and 32 with typical development (TD), all right-handed, were included. Behavioral results confirmed difficulties in correctly recognizing identical pairs in the ASD relative to TD group. We found an unexpected amplitude decrement on the P2 (220-270 msec) and FN400 (350-470 msec) potentials, suggesting diminished priming and familiarity effects in the ASD relative to TD group. However, ERP data revealed that the recognition of associative information relies on the same electrophysiological process (old/new effect in the 600-700-msec late positive component) in ASD participants as in TD ones, with a parietal extension in the ASD group. These results suggest that the electrophysiological processes of associative recognition are qualitatively similar in individuals with and without ASD but may differ quantitatively. This difference may be driven by the reduced early processing of picture pairs that may in turn lead to their diminished integration into the semantic memory system, being partially compensated by a greater involvement of associative memory during the recollection process. Other studies would be useful to go further in identifying these cognitive processes involved in atypical recognition in ASD and their neural substrates. LAY SUMMARY : We identified diminished performance on the associative recognition of picture pairs in adolescents and young adults with autism when compared to typical development. Electrophysiological data revealed qualitative similarities but quantitative differences between-group, with diminished priming and familiarity processes partially compensated by an enhanced parietal recollection process.

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4. Holroyd TA, Sauer MA, Limaye RJ. Vaccine decision-making among parents of children on Medicaid with and without autism spectrum disorder. Vaccine ;2020 (Sep 8)

BACKGROUND : The belief that there is a link between the MMR vaccine and autism has led to a decline in childhood-immunization uptake and a resurgence of preventable infectious diseases. This study aimed to understand how the vaccine decision-making process differed between parents with a child diagnosed with autism and parents with a child that did not have autism. METHODS : Interviews were conducted in September-December 2018 with 24 racially and demographically diverse parents of children on Medicaid at two Baltimore clinics serving Medicaid patients, one of which only serves families of children with autism. We conducted a semi-structured, qualitative, in-person in-depth interview study to explore parental perceptions of vaccine-decision making. Interviews with participants were transcribed from audio recordings. We then extracted and analyzed the types of barriers each participant experienced. RESULTS : Parent descriptions of their vaccine decision-making process focused on three primary factors : concerns about vaccines, the relationship between the child’s provider and the parent, and risk perception. These findings are in line with existing literature that has articulated key factors in the vaccine decision-making process generally. Parents of a child with autism were more likely to consider the idea that vaccines were linked to autism in their decision-making process, and were less likely to be influenced by personalized recommendations from the child’s health care provider. CONCLUSION : Parental concerns about vaccines, the parent-provider relationship, and vaccine risk perception all contribute to vaccine decision-making among parents of children with and without ASD. However, providers may find it especially difficult to manage parental misconceptions about vaccines and developmental disabilities. Future studies can identify alternative communication techniques and determine what mechanisms may be more effective in encouraging vaccine acceptance among parents of children with ASD.

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5. Kovarski K, Caetta F, Mermillod M, Peyrin C, Perez C, Granjon L, Delorme R, Cartigny A, Zalla T, Chokron S. Emotional face recognition in autism and in cerebral visual impairments : In search for specificity. J Neuropsychol ;2020 (Sep 13)

Autism spectrum disorder (ASD) is characterized by difficulties in the social domain, but also by hyper- and hypo-reactivity. Atypical visual behaviours and processing have often been observed. Nevertheless, several similar signs are also identified in other clinical conditions including cerebral visual impairments (CVI). In the present study, we investigated emotional face categorization in groups of children with ASD and CVI by comparing each group to typically developing individuals (TD) in two tasks. Stimuli were either non-filtered or filtered by low- and high-spatial frequencies (LSF and HSF). All participants completed the autism spectrum quotient score (AQ) and a complete neurovisual evaluation. The results show that while both clinical groups presented difficulties in the emotional face recognition tasks and atypical processing of filtered stimuli, they did not differ from one another. Additionally, autistic traits were observed in the CVI group and symmetrically, some visual disturbances were present in the ASD group as measured via the AQ score and a neurovisual evaluation, respectively. The present study suggests the relevance of comparing ASD to CVI by showing that emotional face categorization difficulties should not be solely considered as autism-specific but merit investigation for potential dysfunction of the visual processing neural network. These results are of interest in both clinical and research perspectives, indicating that systematic visual examination is warranted for individuals with ASD.

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6. Park BY, Yao R, Tierney E, Brucato M, Hong X, Wang G, Ji Y, Pearson C, Fallin MD, Wang X, Volk H. The association between maternal lipid profile after birth and offspring risk of Autism Spectrum Disorder. Ann Epidemiol ;2020 (Sep 9)

BACKGROUND : Maternal obesity has been consistently associated with offspring risk for ASD as well as lipid metabolism derangements. However, few ASD studies have examined maternal lipids in conjunction with maternal prepregnancy body mass index (BMI). METHODS : This nested case-control study was based on the Boston Birth Cohort, a prospective cohort study of mother-child dyads recruited at the Boston Medical Center. Maternal blood samples were collected shortly after delivery and analyzed for total plasma cholesterol, HDL, and triglyceride (TG) concentrations. Low-density lipoprotein (LDL) was subsequently calculated by the Friedewald equation. Cases were identified using ASD diagnoses in children’s medical records. The odds of ASD were estimated with continuous lipid levels for a linear relationship, and we further explored the non-linear relationship using the tertile of each lipid analyte with the highest tertile as the reference group. Logistic regression was used to estimate the risk of ASD adjusting for potential confounders. The analyses were performed separately for mothers with normal weight and overweight/obese based on maternal prepregnancy BMI. RESULTS : One standard deviation decrease in postpartum maternal LDL was associated with increased odds of ASD aOR 1.33 [1.03 - 1.75]. There were no association between postpartum maternal HDL and TG levels and ASD risk. Decreasing levels of LDL were not associated with ASD risk in normal weight mothers (aOR 1.18 [0.83 - 1.69]), but the ASD risk was more pronounced in overweight and obese mothers (aOR 1.54 [1.04 - 2.27]). Follow-up analysis of non-linear association models showed that, when compared to the highest tertile, lower maternal LDL concentrations were associated with approximately two times increased risk of ASD (first tertile : aOR 2.34 [1.22 - 4.49] and second tertile : aOR 2.63 [1.37 - 5.08]). A similar pattern was observed with overweight/obese mothers but not in normal weight mothers CONCLUSION : Lower maternal postpartum plasma LDL concentration was associated with increased odds of ASD in offspring among children born to overweight and obese mothers. Our findings suggest that both maternal BMI and lipids should be considered in assessing their role in offspring ASD risk ; and additional longitudinal studies are needed to better understand maternal lipid dynamics during pregnancy among normal weight and overweight/obese mothers.

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7. Scott KE, Kazazian K, Mann RS, Möhrle D, Schormans AL, Schmid S, Allman BL. Loss of Cntnap2 in the Rat Causes Autism-Related Alterations in Social Interactions, Stereotypic Behavior, and Sensory Processing. Autism Res ;2020 (Sep 11)

Autism spectrum disorder (ASD) is characterized by social interaction and communication impairments, as well as restrictive/repetitive patterns of behavior, interests or activities, which can coexist with intellectual disability and altered sensory processing. To study the mechanisms underlying these core features of ASD, preclinical research has developed animal models with manipulations in ASD-linked genes, such as CNTNAP2. In order to fully interpret the findings from mechanistic studies, the extent to which these models display behaviors consistent with ASD must be determined. Toward that goal, we conducted an investigation of the consequences of a functional loss of Cntnap2 on ASD-related behaviors by comparing the performance of rats with a homozygous or heterozygous knockout of Cntnap2 to their wildtype littermates across a comprehensive test battery. Cntnap2(-/-) rats showed deficits in sociability and social novelty, and they displayed repetitive circling and hyperlocomotion. Moreover, Cntnap2(-/-) rats demonstrated exaggerated acoustic startle responses, increased avoidance to sounds of moderate intensity, and a lack of rapid audiovisual temporal recalibration ; indicating changes in sensory processing at both the pre-attentive and perceptual levels. Notably, sensory behaviors requiring learned associations did not reveal genotypic differences, whereas tasks relying on automatic/implicit behaviors did. Ultimately, because these collective alterations in social, stereotypic, and sensory behaviors are phenotypically similar to those reported in individuals with ASD, our results establish the Cntnap2 knockout rat model as an effective platform to study not only the molecular and cellular mechanisms associated with ASD, but also the complex relationship between altered sensory processing and other core ASD-related behaviors. LAY SUMMARY : Autism spectrum disorder (ASD) is characterized by social interaction differences, and restrictive/repetitive patterns of behavior. We studied the behavioral alterations caused by the loss of an autism-linked gene, Cntnap2, in the rat to determine how mutations in this gene contribute to autism-related behaviors. We show the loss of Cntnap2 leads to changes in social, stereotypic, and sensory behaviors, indicating this rat model can be used to better understand the brain changes underlying ASD.

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8. Zajic MC, Solari EJ, McIntyre NS, Lerro L, Mundy PC. Observing Visual Attention and Writing Behaviors During a Writing Assessment : Comparing Children with Autism Spectrum Disorder to Peers with Attention-Deficit/Hyperactivity Disorder and Typically Developing Peers. Autism Res ;2020 (Sep 12)

Children with autism spectrum disorder (ASD) demonstrate heterogeneous writing skills that are generally lower than their typically developing (TD) peers and similar to peers with attention difficulties like attention-deficit/hyperactivity disorder (ADHD). Recent evidence suggests children with ASD spend less time engaging in writing tasks compared to their peers, but previous studies have not examined engagement specifically within the writing task environment. This study used video observation data collected from 121 school-age children (60 children with ASD, 32 children with ADHD, and 29 TD children) to compare differences in visual attention and writing task behaviors and relationships between task behaviors and age, cognitive skills, and ASD and ADHD symptom severity. Findings indicated that groups mostly spent time looking at and writing on the draft, though this was lowest in the ASD group. No differences were found between the ASD and ADHD groups after accounting for task behavior durations as percentages of total used task time. Groups spent little time looking at their outlines and looking away from the task, with all groups spending relatively more time looking at the task picture. Time spent engaged with the draft showed a positive relationship with writing performance across groups, but a negative relationship between time spent looking at the task picture and writing performance only appeared for the ADHD group. The ASD and ADHD groups showed negative associations between draft engagement and ASD symptom severity but not ADHD symptom severity. Implications are discussed for understanding writing task engagement in research and instructional contexts. LAY SUMMARY : Children with autism spectrum disorder (ASD) demonstrate variable writing skills. Here, we examine how children with ASD engage during a writing task by using video observation data to compare their engagement to peers with and without attention difficulties. Findings indicate (a) lower draft engagement and similar task disengagement in children with ASD compared to their peers and (b) moderate-to-strong relationships between writing scores and ASD symptom severity with within-task engagement in children with ASD and their peers with attention difficulties.

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