Pubmed du 21/01/20

mardi 21 janvier 2020

1. Arwert TG, Sizoo BB. Self-reported Suicidality in Male and Female Adults with Autism Spectrum Disorders : Rumination and Self-esteem. J Autism Dev Disord ;2020 (Jan 21)

Rumination and low self-esteem are associated with suicidality, and with autism spectrum disorders (ASD). However, rumination and self-esteem in relation to suicidality in adults with ASD have not been examined. This cross-sectional study (n = 75 ; 46 males and 29 females) investigates the relation of rumination and self-esteem to the absence/presence of suicidal ideation (SUIC+/-), history of attempted suicide (HAS), and severity of suicidality. Multivariate analysis of variance showed that self-esteem was significantly associated with SUIC+/-, whereas rumination was significantly associated with HAS. Multiple regression analysis showed that rumination and self-esteem were independently associated with severity of suicidality, but these lose their significant contribution, when statistically controlling for depression. The prevalence of suicidal ideation was 66.6% ; gender was not a significant factor.

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2. Greene CM, Suess E, Kelly Y. Autistic Traits Do Not Affect Emotional Face Processing in a General Population Sample. J Autism Dev Disord ;2020 (Jan 21)

It has been suggested that atypical emotional face processing strategies observed in autism may extend in milder form to the general population. We investigated the relationship between autistic traits (AT) and gaze behaviour in a neurotypical adult sample. Novel naturalistic videos featuring happy, fearful and neutral faces were first validated in a sample of 22 participants. A separate sample of participants (N = 67) then viewed the three videos in counterbalanced order. Eye-tracking data showed that participants looked longer at emotional than neutral faces, and exploration of facial features varied with emotional condition. AT did not influence viewing patterns, time to first fixation or number of early fixations. We conclude that AT in the general population do not affect visual processing of emotional faces.

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3. Grossard C, Dapogny A, Cohen D, Bernheim S, Juillet E, Hamel F, Hun S, Bourgeois J, Pellerin H, Serret S, Bailly K, Chaby L. Children with autism spectrum disorder produce more ambiguous and less socially meaningful facial expressions : an experimental study using random forest classifiers. Mol Autism ;2020 ;11:5.

Background : Computer vision combined with human annotation could offer a novel method for exploring facial expression (FE) dynamics in children with autism spectrum disorder (ASD). Methods : We recruited 157 children with typical development (TD) and 36 children with ASD in Paris and Nice to perform two experimental tasks to produce FEs with emotional valence. FEs were explored by judging ratings and by random forest (RF) classifiers. To do so, we located a set of 49 facial landmarks in the task videos, we generated a set of geometric and appearance features and we used RF classifiers to explore how children with ASD differed from TD children when producing FEs. Results : Using multivariate models including other factors known to predict FEs (age, gender, intellectual quotient, emotion subtype, cultural background), ratings from expert raters showed that children with ASD had more difficulty producing FEs than TD children. In addition, when we explored how RF classifiers performed, we found that classification tasks, except for those for sadness, were highly accurate and that RF classifiers needed more facial landmarks to achieve the best classification for children with ASD. Confusion matrices showed that when RF classifiers were tested in children with ASD, anger was often confounded with happiness. Limitations : The sample size of the group of children with ASD was lower than that of the group of TD children. By using several control calculations, we tried to compensate for this limitation. Conclusion : Children with ASD have more difficulty producing socially meaningful FEs. The computer vision methods we used to explore FE dynamics also highlight that the production of FEs in children with ASD carries more ambiguity.

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4. Huang Y, Iosif AM, Hansen RL, Schmidt RJ. Maternal polyunsaturated fatty acids and risk for autism spectrum disorder in the MARBLES high-risk study. Autism ;2020 (Jan 21):1362361319877792.

LAY ABSTRACT : Prior studies suggest that maternal polyunsaturated fatty acids intake during pregnancy may have protective effects on autism spectrum disorder in their children. However, they did not examine detailed timing of maternal polyunsaturated fatty acid intake during pregnancy, nor did they evaluate plasma concentrations. This study investigates whether maternal polyunsaturated fatty acids in defined time windows of pregnancy, assessed by both questionnaires and biomarkers, are associated with risk of autism spectrum disorder and other non-typical development in the children. Food frequency questionnaires were used to estimate maternal polyunsaturated fatty acid intake during the first and second half of pregnancy. Gas chromatography measured maternal plasma polyunsaturated fatty acid concentrations in the third trimester. In all, 258 mother-child pairs from a prospective cohort were included. All mothers already had a child with autism spectrum disorder and were planning a pregnancy or pregnant with another child. Children were clinically assessed longitudinally and diagnosed at 36 months. For polyunsaturated fatty acid intake from questionnaires, we only found mothers consuming more omega-3 in the second half of pregnancy were 40% less likely to have children with autism spectrum disorder. For polyunsaturated fatty acid concentrations in the third-trimester plasma, we did not observe any statistical significance in relation to the risk of autism spectrum disorder. However, our study confirmed associations from previous studies between higher maternal docosahexaenoic acid and eicosapentaenoic acid plasma concentrations in the late pregnancy and reduced risk for non-typical development. This study markedly advanced understandings of whether and when maternal polyunsaturated fatty acid intake influences risk for autism spectrum disorder and sets the stage for prevention at the behavioral and educational level.

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5. Khalili Alashti S, Fallahi J, Mohammadi S, Dehghanian F, Farbood Z, Masoudi M, Poorang S, Jokar A, Fardaei M. Two novel mutations in the MECP2 gene in patients with Rett syndrome. Gene ;2020 (Jan 17):144337.

Rett syndrome (RTT) is an X-linked severe neurological disorder. Mutations in Methyl-CpG-Binding Protein2 (MECP2) gene are the main cause of RTT disease. In this study, we report the results of screening the MECP2 gene for mutations in 7 Iranian patients with RTT syndrome. MECP2 sequencing identified two novel mutations in the heterozygous state, a splice mutation, c.354G>T, p.Gly119Gly, resulting in a premature splice-donor site and a 20-bp deletion, c.1167-1186del20 (p.P390Rfs), leading to modifying the c-terminal parts of the protein and it also changes the reading frames of all coding sequence downstream of the mutation. Multiple sequence alignment showed that amino acid changes occurred in the well conserved protein regions across species. Based on the results of this study and literature reviews, about 70% of mutations are found in exon 3 and 4 of the MECP2 gene, and mutations in exon 4 are more common than other exons. Therefore, it is recommended that exon 4 to be a priority for screening the genetic analysis of RTT patients.

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6. Lin HY, Ni HC, Tseng WI, Gau SS. Characterizing intrinsic functional connectivity in relation to impaired self-regulation in intellectually able male youth with autism spectrum disorder. Autism ;2020 (Jan 21):1362361319888104.

LAY ABSTRACT : Impaired self-regulation (i.e., dysregulation in affective, behavioral, and cognitive control), is commonly present in young people with autism spectrum disorder (ASD). However, little is known about what is happening in people’s brains when self-regulation is impaired in young people with ASD. We used a technique called functional MRI (which measures brain activity by detecting changes associated with blood flow) at a resting state (when participants are not asked to do anything) to research this in intellectually able young people with ASD. We found that brains with more connections, especially between regions involved in sensorimotor processing and regions involved in the processes that enable peoples to focus their attention on the most pertinent features from the sensory environment (salience processing), were related to more impaired self-regulation in young people with and without ASD. We also found that impaired self-regulation was related to increased communication within the brain system involved in voluntary orienting attention to a sensory cue (the dorsal attention network) in young people with ASD. These results highlight how different people have different degrees of dysregulation, which has been largely overlooked in the earlier brain imaging reports on ASD. This might contribute to understanding some of the inconsistencies in the existing published literature on this topic.

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7. Mac Carthaigh S, Lopez B. Factually based autism awareness campaigns may not always be effective in changing attitudes towards autism : Evidence from British and South Korean nursing students. Autism ;2020 (Jan 20):1362361319898362.

LAY ABSTRACT : This study explored the relationship between autism knowledge, autistic traits, frequency of contact with autistic people and attitudes towards these individuals in British and South Korean student nurses and whether these relationships were affected by the presence of autistic traits. In total, 331 participants (156 South Korean and 175 British) completed self-report measures of autism knowledge, attitudes towards autistic people, frequency of contact with these individuals and autistic traits. Although British participants demonstrated greater knowledge and more favourable attitudes, significant knowledge gaps were noted in both groups. Among British participants, knowledge was found to be only a marginal predictor of attitudes, whereas neither knowledge nor frequency of contact were predictive of attitudes among South Korean participants. Contrary to previous research findings, cultural differences in the presence of autistic traits were not noted, nor were these traits found to be related to attitudes towards autistic people. The findings suggest that awareness initiatives which aim to address attitudes towards autism need more than simply increasing factual knowledge. More importantly, the results suggest that Western-developed autism awareness initiatives may be ineffectual if cultural differences are not considered.

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8. McCormick CEB, Kavanaugh BC, Sipsock D, Righi G, Oberman LM, Moreno De Luca D, Gamsiz Uzun ED, Best CR, Jerskey BA, Quinn JG, Jewel SB, Wu PC, McLean RL, Levine TP, Tokadjian H, Perkins KA, Clarke EB, Dunn B, Gerber AH, Tenenbaum EJ, Anders TF, Sheinkopf SJ, Morrow EM. Autism Heterogeneity in a Densely Sampled U.S. Population : Results From the First 1,000 Participants in the RI-CART Study. Autism Res ;2020 (Jan 20)

The objective of this study was to establish a large, densely sampled, U.S. population-based cohort of people with autism spectrum disorder (ASD). The Rhode Island Consortium for Autism Research and Treatment (RI-CART) represents a unique public-private-academic collaboration involving all major points of service for families in Rhode Island affected by ASD. Diagnosis was based on direct behavioral observation via the Autism Diagnostic Observation Schedule, Second Edition. For the first 1,000 participants, ages ranged from 21 months to 64 years. Using Geographic Information System and published prevalence rates, the overall cohort is estimated to represent between 20% and 49% of pediatric age persons in Rhode Island with ASD, with demographics representative of U.S. Census. We observed a high rate of co-occurring medical and psychiatric conditions in affected individuals. Among the most prominent findings of immediate clinical importance, we found that females received a first diagnosis of ASD at a later age than males, potentially due to more advanced language abilities in females with ASD. In summary, this is the first analysis of a large, population-based U.S. cohort with ASD. Given the depth of sampling, the RI-CART study reflects an important new resource for studying ASD in a representative U.S. population. Psychiatric and medical comorbidities in ASD constitute a substantial burden and warrant adequate attention as part of overall treatment. Our study also suggests that new strategies for earlier diagnosis of ASD in females may be warranted. LAY SUMMARY : The Rhode Island Consortium for Autism Research and Treatment (RI-CART) represents a unique public-private-academic collaboration involving all major points of service for families in Rhode Island affected by autism spectrum disorder (ASD). In this article, we provide results from the first 1,000 participants, estimated to represent >20% of affected families in the state. Importantly, we find a later age at first diagnosis of ASD in females, which potentially calls attention to the need for improved early diagnosis in girls. Also, we report a high rate of co-occurring medical and psychiatric conditions in affected individuals.

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9. Pickles A, McCauley JB, Pepa LA, Huerta M, Lord C. The adult outcome of children referred for autism : typology and prediction from childhood. J Child Psychol Psychiatry ;2020 (Jan 19)

BACKGROUND : Autism Spectrum Disorder is highly heterogeneous, no more so than in the complex world of adult life. Being able to summarize that complexity and have some notion of the confidence with which we could predict outcome from childhood would be helpful for clinical practice and planning. METHODS : Latent class profile analysis is applied to data from 123 participants from the Early Diagnosis Study (Lord et al., Archives of General Psychiatry, 2006, 63, 694) to summarize in a typology the multifacetted early adult outcome of children referred for autism around age 2. The form of the classes and their predictability from childhood is described. RESULTS : Defined over 15 measures, the adult outcomes were reduced to four latent classes, accounting for much of the variation in cognitive and functional measures but little in the affective measures. The classes could be well and progressively more accurately predicted from childhood IQ and symptom severity measurement taken at age 2 years to age 9 years. Removing verbal and nonverbal IQ and autism symptom severity measurement from the profile of adult measures did not change the number of the latent classes ; however, there was some change in the class composition and they were more difficult to predict. CONCLUSIONS : While an empirical summary of adult outcome is possible, careful consideration needs to be given to the aspects that should be given priority. An outcome typology that gives weight to cognitive outcomes is well predicted from corresponding measures taken in childhood, even after account for prediction bias from fitting a complex model to a small sample. However, subjective well-being and affective aspects of adult outcome were weakly related to functional outcomes and poorly predicted from childhood.

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10. Richardson H, Gweon H, Dodell-Feder D, Malloy C, Pelton H, Keil B, Kanwisher N, Saxe R. Response patterns in the developing social brain are organized by social and emotion features and disrupted in children diagnosed with autism spectrum disorder. Cortex ;2019 (Dec 20) ;125:12-29.

Adults and children recruit a specific network of brain regions when engaged in "Theory of Mind" (ToM) reasoning. Recently, fMRI studies of adults have used multivariate analyses to provide a deeper characterization of responses in these regions. These analyses characterize representational distinctions within the social domain, rather than comparing responses across preferred (social) and non-preferred stimuli. Here, we conducted opportunistic multivariate analyses in two previously collected datasets (Experiment 1 : n = 20 5-11 year old children and n = 37 adults ; Experiment 2 : n = 76 neurotypical and n = 29 5-12 year old children diagnosed with Autism Spectrum Disorder (ASD)) in order to characterize the structure of representations in the developing social brain, and in order to discover if this structure is disrupted in ASD. Children listened to stories that described characters’ mental states (Mental), non-mentalistic social information (Social), and causal events in the environment (Physical), while undergoing fMRI. We measured the extent to which neural responses in ToM brain regions were organized according to two ToM-relevant models : 1) a condition model, which reflected the experimenter-generated condition labels, and 2) a data-driven emotion model, which organized stimuli according to their emotion content. We additionally constructed two control models based on linguistic and narrative features of the stories. In both experiments, the two ToM-relevant models outperformed the control models. The fit of the condition model increased with age in neurotypical children. Moreover, the fit of the condition model to neural response patterns was reduced in the RTPJ in children diagnosed with ASD. These results provide a first glimpse into the conceptual structure of information in ToM brain regions in childhood, and suggest that there are real, stable features that predict responses in these regions in children. Multivariate analyses are a promising approach for sensitively measuring conceptual and neural developmental change and individual differences in ToM.

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11. Saul J, Norbury C. Does phonetic repertoire in minimally verbal autistic preschoolers predict the severity of later expressive language impairment ?. Autism ;2020 (Jan 21):1362361319898560.

LAY ABSTRACT : What is already known about the topic ? Language skills vary enormously in autism : while some autistic individuals can engage in sophisticated conversations, many remain minimally verbal, meaning they use few or no words regularly for communication. We do not know what causes this variation, but we do know that certain child and family characteristics can be measured when a child is young, and this information can improve our prediction of how expressive language might develop over time. What this article adds ? We examined four characteristics, which have already been found to predict language development in young minimally verbal autistic children. We followed the expressive language progress of 27 minimally verbal children, aged three to five, for a year. One-third no longer met the minimally verbal criteria at the end of the study. In this sample, only one factor predicted language progress, which was the child’s initial speech skills (the number of different speech sounds that the child made during an interaction). This finding adds to the evidence that speech skills contribute to language development in autism. In some cases, persistent and severe expressive language difficulties may reflect an additional deficit in speech production, rather than a consequence of core autism features. Implications for practice, research or policy Our findings suggest that there are factors other than social skills that influence language development in autism. Careful assessment of speech production should be considered when language does not develop as expected. Future research should evaluate speech skills interventions for minimally verbal autistic individuals, as well as promoting the use of alternative communication systems.

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12. Snell-Rood C, Ruble L, Kleinert H, McGrew JH, Adams M, Rodgers A, Odom J, Wong WH, Yu Y. Stakeholder perspectives on transition planning, implementation, and outcomes for students with autism spectrum disorder. Autism ;2020 (Jan 20):1362361319894827.

LAY ABSTRACT : Little is known about factors impacting poor post-school outcomes for transition-age students with autism spectrum disorder. Guided by an implementation science framework that takes into account the multiple factors that influence transition outcomes, we sought to better understand the interdependent impacts of policy, organizational, provider, and individual factors that shape the transition planning process in schools, and the subsequent process through which transition plans are implemented as youth with autism spectrum disorder access services and gain employment after school. We conducted focus groups with individuals with autism spectrum disorder, parents, classroom teachers, school administrators, adult service providers, and state policymakers (10 groups, N = 40). Participants described how core tenets of the individualized education planning process were not reliably implemented : planning was described by inappropriate goal-setting, ineffective communication, and inadequate involvement of all decision-makers needed to inform planning. After school, youth struggled to access the services specified in their transition plans due to inadequate planning, overburdened services, and insufficient accountability for adult service providers. Finally, a failure to include appropriate skill-building and insufficient interagency and community relationships limited efforts to gain and maintain employment. Diverse stakeholder perspectives illuminate the need for implementation efforts to target the provider, organizational, and policy levels to improve transition outcomes for individuals with autism spectrum disorder.

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13. Tang S, Sun N, Floris DL, Zhang X, Di Martino A, Yeo BTT. Reconciling Dimensional and Categorical Models of Autism Heterogeneity : A Brain Connectomics and Behavioral Study. Biol Psychiatry ;2019 (Nov 18)

BACKGROUND : Heterogeneity in autism spectrum disorder (ASD) has hindered the development of biomarkers, thus motivating subtyping efforts. Most subtyping studies divide individuals with ASD into nonoverlapping (categorical) subgroups. However, continuous interindividual variation in ASD suggests that there is a need for a dimensional approach. METHODS : A Bayesian model was employed to decompose resting-state functional connectivity (RSFC) of individuals with ASD into multiple abnormal RSFC patterns, i.e., categorical subtypes, henceforth referred to as "factors." Importantly, the model allowed each individual to express one or more factors to varying degrees (dimensional subtyping). The model was applied to 306 individuals with ASD (5.2-57 years of age) from two multisite repositories. Post hoc analyses associated factors with symptoms and demographics. RESULTS : Analyses yielded three factors with dissociable whole-brain hypo- and hyper-RSFC patterns. Most participants expressed multiple (categorical) factors, suggestive of a mosaic of subtypes within individuals. All factors shared abnormal RSFC involving the default mode network, but the directionality (hypo- or hyper-RSFC) differed across factors. Factor 1 was associated with core ASD symptoms. Factors 1 and 2 were associated with distinct comorbid symptoms. Older male participants preferentially expressed factor 3. Factors were robust across control analyses and were not associated with IQ or head motion. CONCLUSIONS : There exist at least three ASD factors with dissociable whole-brain RSFC patterns, behaviors, and demographics. Heterogeneous default mode network hypo- and hyper-RSFC across the factors might explain previously reported inconsistencies. The factors differentiated between core ASD and comorbid symptoms-a less appreciated domain of heterogeneity in ASD. These factors are coexpressed in individuals with ASD with different degrees, thus reconciling categorical and dimensional perspectives of ASD heterogeneity.

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14. Westmark PR, Gutierrez A, Gholston AK, Wilmer TM, Westmark CJ. Preclinical testing of the ketogenic diet in fragile X mice. Neurochem Int ;2020 (Jan 17):104687.

The ketogenic diet is highly effective at attenuating seizures in refractory epilepsy and accumulating evidence in the literature suggests that it may be beneficial in autism. To our knowledge, no one has studied the ketogenic diet in any fragile X syndrome (FXS) model. FXS is the leading known genetic cause of autism. Herein, we tested the effects of chronic ketogenic diet treatment on seizures, body weight, ketone and glucose levels, diurnal activity levels, learning and memory, and anxiety behaviors in Fmr1(KO) and littermate control mice as a function of age. The ketogenic diet selectively attenuates seizures in male but not female Fmr1(KO) mice and differentially affects weight gain and diurnal activity levels dependent on Fmr1 genotype, sex and age.

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15. Williams ME, Hastings RP, Hutchings J. The Incredible Years Autism Spectrum and Language Delays Parent Program : A Pragmatic, Feasibility Randomized Controlled Trial. Autism Res ;2020 (Jan 21)

Behavior problems in children with autism spectrum disorders (ASD) are common and particularly stressful for parents. This study aimed to examine the feasibility of delivering a parenting program in existing services, and the feasibility of conducting a future large-scale Randomized Controlled Trial evaluation of the effectiveness of the intervention. Parents of children aged 3-8 years with a diagnosis of ASD, or strongly suspected ASD were eligible to participate. A multicenter, pragmatic, feasibility randomized controlled trial was conducted in four specialist children’s services in Wales. Families were randomly assigned to receive the Incredible Years(R) Autism Spectrum and Language Delays (IY-ASLD) parent program immediately or to a wait-list, treatment as usual control condition. IY-ASLD sessions were delivered once a week for 12 weeks. The primary outcomes related to feasibility (recruitment, retention, fidelity, and acceptability). Preliminary outcome analyses were conducted using covariance models controlling for study site and baseline scores. From October 5 to December 19, 2016, 58 families were randomized, 29 to IY-ASLD and 29 to control. Three parents did not attend any sessions while 19 (73%) completed the program. Fidelity of delivery was high (88%), as was satisfaction with the program. Fifty-three (91%) completed the follow-up measures. All 95% CIs for effect sizes included zero in exploratory outcome analyses. This study supports the feasibility of delivering the IY-ASLD in existing services with good levels of acceptability and fidelity evident. A larger randomized controlled trial is required to examine the effectiveness of the program. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This study examined the feasibility and acceptability of delivering a parenting program for parents of children aged 3-8 years with Autism Spectrum Disorder in existing child services. Recruitment and retention in the study were good and parents rated all aspects of the program positively. Practitioners were able to deliver the program as intended and the measures used for program outcomes were appropriate. A larger study to examine program effectiveness would be feasible.

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