Pubmed du 21/07/20

mardi 21 juillet 2020

1. Carroll R, Shaw M, Arvio M, Gardner A, Kumar R, Hodgson B, Heron S, McKenzie F, Järvelä I, Gecz J. EXOME REPORT : Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion. Eur J Med Genet ;2020 (Jul 17):104010.

The major and most well-studied genetic cause of Fragile-X syndrome (FXS) is expansion of a CGG repeat in the 5’-UTR of the FMR1 gene. Routine testing for this expansion is performed globally. Overall, there is a paucity of intragenic variants explaining FXS, a fact which is being addressed by a more systematic application of whole exome (WES) and whole genome (WGS) sequencing, even in the diagnostic setting. Here we report two families comprising probands with a clinical suspicion of FXS and no CGG repeat expansions. Using WES/WGS we identified deleterious variants within the coding region of FMR1 in both families. In a family from Finland we identified a complex indel c.1021-1028delinsTATTGG in exon 11 of FMR1 which gives rise to a frameshift and a premature termination codon (PTC), p.Asn341Tyrfs*7. Follow-up mRNA and protein studies on a cell line from the proband revealed that although the mRNA levels of FMR1 were not altered, Fragile X Mental Retardation 1 Protein (FMRP) was undetectable. Additionally, we identified a variant, c.881-1G > T, affecting the canonical acceptor splice site of exon 10 of FMR1 in an Australian family. Our findings reinforce the importance of intragenic FMR1 variant testing, particularly in cases with clinical features of FXS and no CGG repeat expansions identified.

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2. Carter Leno V, Chandler S, White P, Yorke I, Charman T, Jones CRG, Happé F, Baird G, Pickles A, Simonoff E. Associations between theory of mind and conduct problems in autistic and nonautistic youth. Autism Res ;2020 (Jul 21)

Many autistic young people exhibit co-occurring behavior difficulties, characterized by conduct problems and oppositional behavior. However, the causes of these co-occurring difficulties are not well understood. Impairments in theory of mind (ToM) are often reported in autistic individuals and have been linked to conduct problems in nonautistic individuals. Whether an association between ToM ability and conduct problems exists in autistic populations, whether this association is similar between individuals who are autistic versus nonautistic, and whether these associations are specific to conduct problems (as opposed to other domains of psychopathology) remains unclear. ToM ability was assessed using the Frith-Happé Triangles task in a pooled sample of autistic (N = 128 ; mean age 14.78 years) and nonautistic youth (N = 50 ; mean age 15.48 years), along with parent-rated psychiatric symptoms of conduct problems, hyperactivity/inattention and emotional problems. Analyses tested ToM ability between autistic versus nonautistic participants, and compared associations between ToM performance and conduct problems between the two groups. Where no significant group differences in associations were found, the pooled association between ToM and conduct problems was estimated in the combined sample. Results showed no evidence of moderation in associations by diagnostic status, and an association between poorer ToM ability and higher levels of conduct problems, hyperactivity/inattention and emotional problems across the total sample. However, these associations became nonsignificant when adjusting for verbal IQ. Results provide support for theoretical models of co-occurring psychopathology in autistic populations, and suggest targets for intervention for conduct problems in autistic youth. LAY SUMMARY : Many young people with autism spectrum disorder show co-occurring behavior problems, but the causes of these are not well understood. This paper found an association between difficulties recognizing what others think and intend (so-called "theory of mind") in a simple animated task, and emotional and behavioral problems in autistic and nonautistic young people. However, a substantial part of this association was explained by individual differences in verbal ability. These findings may have implications for intervention efforts to improve young people’s mental health.

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3. Clements CC, Sparding T, Schultz RT, Yerys BE, Watkins MW. DAS-II Cognitive Profiles Are Not Diagnostically Meaningful For Autism : A ROC Analysis. Autism Res ;2020 (Jul 21)

Intelligence assessment is an integral part of a comprehensive autism evaluation. Many past studies have described a cognitive profile of autistic individuals characterized by higher nonverbal than verbal IQ scores. The diagnostic utility of this profile, however, remains unknown. We leveraged receiver operating characteristic methods to determine the sensitivity, specificity, and area under the curve (AUC) of three different IQ profiles in a large sample of children who have an autism spectrum disorder diagnosis (N = 1,228, Simons Simplex Collection) who completed the Differential Ability Scales-Second Edition (DAS-II), School Age compared to the normative sample provided by the DAS-II publisher (N = 2,200). The frequently discussed nonverbal > verbal IQ profile performed near chance at distinguishing ASD from normative individuals (AUC : 0.54, 95% CI [0.52-0.56]), and performed significantly worse for females than males (AUC : females : 0.46 [0.41-0.52] ; males : 0.55 [0.53-0.58]). All cognitive profiles showed AUC < 0.56. We conclude that while significant differences between verbal and nonverbal IQ scores exist at the group level, these differences are small in an absolute sense and not meaningful at an individual level. We do not recommend using cognitive profiles to aid in autism diagnostic decision-making. LAY SUMMARY : Some researchers and clinicians have reported an "autistic cognitive profile" of higher nonverbal intelligence than verbal intelligence. In an analysis of over 1,000 autistic children, we found that the group’s average nonverbal intelligence is usually higher than their verbal intelligence. However, this pattern should not be used by clinicians to make an individual diagnosis of autism because our results show it is not helpful nor accurate.

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4. De Pascalis V, Cirillo G, Vecchio A, Ciorciari J. Event-Related Potential to Conscious and Nonconscious Emotional Face Perception in Females with Autistic-Like Traits. J Clin Med ;2020 (Jul 21) ;9(7)

This study explored the electrocortical correlates of conscious and nonconscious perceptions of emotionally laden faces in neurotypical adult women with varying levels of autistic-like traits (Autism Spectrum Quotient-AQ). Event-related potentials (ERPs) were recorded during the viewing of backward-masked images for happy, neutral, and sad faces presented either below (16 ms-subliminal) or above the level of visual conscious awareness (167 ms-supraliminal). Sad compared to happy faces elicited larger frontal-central N1, N2, and occipital P3 waves. We observed larger N1 amplitudes to sad faces than to happy and neutral faces in High-AQ (but not Low-AQ) scorers. Additionally, High-AQ scorers had a relatively larger P3 at the occipital region to sad faces. Regardless of the AQ score, subliminal perceived emotional faces elicited shorter N1, N2, and P3 latencies than supraliminal faces. Happy and sad faces had shorter N170 latency in the supraliminal than subliminal condition. High-AQ participants had a longer N1 latency over the occipital region than Low-AQ ones. In Low-AQ individuals (but not in High-AQ ones), emotional recognition with female faces produced a longer N170 latency than with male faces. N4 latency was shorter to female faces than male faces. These findings are discussed in view of their clinical implications and extension to autism.

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5. Griffin JW, Scherf KS. Does decreased visual attention to faces underlie difficulties interpreting eye gaze cues in autism ?. Mol Autism ;2020 (Jul 21) ;11(1):60.

BACKGROUND : Shifts in eye gaze communicate social information that allows people to respond to another’s behavior, interpret motivations driving behavior, and anticipate subsequent behavior. Understanding the social communicative nature of gaze shifts requires the ability to link eye movements and mental state information about objects in the world. Autism spectrum disorder (ASD) is characterized by atypical sensitivity to eye gaze cues, which impacts social communication and relationships. We evaluated whether reduced visual attention to faces explains this difficulty in ASD. METHODS : We employed eye-tracking technology to measure visual attention to faces and gazed-at objects in a 4-alternative forced choice paradigm in adolescents with ASD and typically developing (TD) adolescents. Participants determined the target object that an actor was looking at in ecologically rich scenes. We controlled for group differences in task engagement and data quality. RESULTS : In the Gaze Following task, adolescents with ASD were relatively impaired (Cohen’s d = 0.63) in the ability to identify the target object. In contrast to predictions, both groups exhibited comparable fixation durations to faces and target objects. Among both groups, individuals who looked longer at the target objects, but not faces, performed better in the task. Finally, among the ASD group, parent SSIS-Social Skills ratings were positively associated with performance on the Gaze Following task. In the Gaze Perception task, there was a similar pattern of results, which provides internal replication of the findings that visual attention to faces is not related to difficulty interpreting eye gaze cues. Together, these findings indicate that adolescents with ASD are capable of following gaze, but have difficulty linking gaze shifts with mental state information. LIMITATIONS : Additional work is necessary to determine whether these findings generalize to individuals across the full autism spectrum. New paradigms that manipulate component processes of eye gaze processing need to be tested to confirm these interpretations. CONCLUSIONS : Reduced visual attention to faces does not appear to contribute to atypical processing of eye gaze cues among adolescents with ASD. Instead, the difficulty for individuals with ASD is related to understanding the social communicative aspects of eye gaze information, which may not be extracted from visual cues alone.

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6. Hammerschlag AR, Byrne EM, Bartels M, Wray NR, Middeldorp CM. Refining Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder Genetic Loci by Integrating Summary Data From Genome-wide Association, Gene Expression, and DNA Methylation Studies. Biol Psychiatry ;2020 (May 16)

BACKGROUND : Recent genome-wide association studies (GWASs) identified the first genetic loci associated with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). The next step is to use these results to increase our understanding of the biological mechanisms involved. Most of the identified variants likely influence gene regulation. The aim of the current study is to shed light on the mechanisms underlying the genetic signals and prioritize genes by integrating GWAS results with gene expression and DNA methylation (DNAm) levels. METHODS : We applied summary-data-based Mendelian randomization to integrate ADHD and ASD GWAS data with fetal brain expression and methylation quantitative trait loci, given the early onset of these disorders. We also analyzed expression and methylation quantitative trait loci datasets of adult brain and blood, as these provide increased statistical power. We subsequently used summary-data-based Mendelian randomization to investigate if the same variant influences both DNAm and gene expression levels. RESULTS : We identified multiple gene expression and DNAm levels in fetal brain at chromosomes 1 and 17 that were associated with ADHD and ASD, respectively, through pleiotropy at shared genetic variants. The analyses in brain and blood showed additional associated gene expression and DNAm levels at the same and additional loci, likely because of increased statistical power. Several of the associated genes have not been identified in ADHD and ASD GWASs before. CONCLUSIONS : Our findings identified the genetic variants associated with ADHD and ASD that likely act through gene regulation. This facilitates prioritization of candidate genes for functional follow-up studies.

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7. Hedger N, Chakrabarti B. To covet what we see : Autistic traits modulate the relationship between looking and choosing. Autism Res ;2020 (Jul 20)

Behavioral studies indicate that autistic traits predict reduced gaze toward social stimuli. Moreover, experiments that require participants to make an explicit choice between stimuli indicate reduced preferences for social stimuli in individuals with high autistic traits. These observations, in combination, fit with the idea that gaze is actively involved in the formation of choices-gaze toward a stimulus increases the likelihood of its subsequent selection. Although these aspects of gaze and choice behavior have been well characterized separately, it remains unclear how autistic traits affect the relationship between gaze and socially relevant choices. In a choice-based eye-tracking paradigm, we observed that autistic traits predict less frequent and delayed selection of social stimuli. Critically, eye tracking revealed novel phenomena underlying these choice behaviors : first, the relationship between gaze and choice behavior was weaker in individuals with high autistic traits-an increase in gaze to a stimulus was associated with a smaller increase in choice probability. Second, time-series analyses revealed that gaze became predictive of choice behaviors at longer latencies in observers with high autistic traits. This dissociation between gaze and choice in individuals with high autistic traits may reflect wider atypicalities in value coding. Such atypicalities may predict the development of atypical social behaviors associated with the autism phenotype. LAY SUMMARY : When presented with multiple stimuli to choose from, we tend to look more toward the stimuli we later choose. Here, we found that this relationship between looking and choosing was reduced in individuals with high autistic traits. These data indicate that autistic traits may be associated with atypical processing of value, which may contribute to the reduced preferences for social stimuli exhibited by individuals with autism.

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8. Huang ZA, Zhu Z, Yau CH, Tan KC. Identifying Autism Spectrum Disorder From Resting-State fMRI Using Deep Belief Network. IEEE Trans Neural Netw Learn Syst ;2020 (Jul 21) ;PP

With the increasing prevalence of autism spectrum disorder (ASD), it is important to identify ASD patients for effective treatment and intervention, especially in early childhood. Neuroimaging techniques have been used to characterize the complex biomarkers based on the functional connectivity anomalies in the ASD. However, the diagnosis of ASD still adopts the symptom-based criteria by clinical observation. The existing computational models tend to achieve unreliable diagnostic classification on the large-scale aggregated data sets. In this work, we propose a novel graph-based classification model using the deep belief network (DBN) and the Autism Brain Imaging Data Exchange (ABIDE) database, which is a worldwide multisite functional and structural brain imaging data aggregation. The remarkable connectivity features are selected through a graph extension of K-nearest neighbors and then refined by a restricted path-based depth-first search algorithm. Thanks to the feature reduction, lower computational complexity could contribute to the shortening of the training time. The automatic hyperparameter-tuning technique is introduced to optimize the hyperparameters of the DBN by exploring the potential parameter space. The simulation experiments demonstrate the superior performance of our model, which is 6.4% higher than the best result reported on the ABIDE database. We also propose to use the data augmentation and the oversampling technique to identify further the possible subtypes within the ASD. The interpretability of our model enables the identification of the most remarkable autistic neural correlation patterns from the data-driven outcomes.

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9. Kruppa JA, Reindl V, Gerloff C, Weiss EO, Prinz J, Herpertz-Dahlmann B, Konrad K, Schulte-Rüther M. Brain and motor synchrony in children and adolescents with ASD- an fNIRS hyperscanning study. Soc Cogn Affect Neurosci ;2020 (Jul 18)

Brain-to-brain synchrony has been proposed as an important mechanism underlying social interaction. While first findings indicate that it may be modulated in children with ASD, no study to date has investigated the influence of different interaction partners and task characteristics. Using functional near-infrared spectroscopy hyperscanning, we assessed brain-to-brain synchrony in 41 male typically developing (TD) children (8-18 years ; control sample), as well as 18 children with ASD and age-matched TD children (matched sample), while performing cooperative and competitive tasks with their parents and an adult stranger. Dyads were instructed to either respond jointly in response to a target (cooperation) or to respond faster than the other player (competition). Wavelet coherence was calculated for oxy- and deoxyhemoglobin brain signals. In the control sample, a widespread enhanced coherence was observed for parent-child competition, and a more localized coherence for parent-child cooperation in the frontopolar cortex. While behaviorally, children with ASD showed a lower motor synchrony than children in the TD group, no significant group differences were observed on the neural level. In order to identify biomarkers for typical and atypical social interactions in the long run, more research is needed to investigate the neurobiological underpinnings of reduced synchrony in ASD.

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10. Lamy M, Pedapati EV, Dominick KL, Wink LK, Erickson CA. Recent Advances in the Pharmacological Management of Behavioral Disturbances Associated with Autism Spectrum Disorder in Children and Adolescents. Paediatr Drugs ;2020 (Jul 20)

Autism spectrum disorder (ASD) is a heterogeneous neuropsychiatric condition affecting an estimated one in 36 children. Youth with ASD may have severe behavioral disturbances including irritability, aggression, and hyperactivity. Currently, there are only two medications (risperidone and aripiprazole) approved by the US Food and Drug Administration (FDA) for the treatment of irritability associated with ASD. Pharmacologic treatments are commonly used to target ASD-associated symptoms including irritability, mood lability, anxiety, and hyperactivity. However, evidence for the efficacy of many commonly used treatments is limited by the lack of large placebo-controlled trials of these medications in this population. Research into the pathophysiology of ASD has led to new targets for pharmacologic therapy including the neuroimmune system, the endocannabinoid system, and the glutamatergic neurotransmitter system. The goal of this review is to provide an overview of the current evidence base for commonly used treatments, as well as emerging treatment options for common behavioral disturbances seen in youth with ASD.

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11. Lindly OJ, Chan J, Fenning RM, Farmer JG, Neumeyer AM, Wang P, Swanson M, Parker RA, Kuhlthau KA. Vision care among school-aged children with autism spectrum disorder in North America : Findings from the Autism Treatment Network Registry Call-Back Study. Autism ;2020 (Jul 21):1362361320942091.

Children with autism are at high risk for vision problems, which may compound core social and behavioral symptoms if untreated. Despite recommendations for school-aged children with autism to receive routine vision testing by an eye care practitioner (ophthalmologist or optometrist), little is known about their vision care. This study, therefore, examined vision care among 351 children with autism ages 6-17 years in the United States or Canada who were enrolled in the Autism Treatment Network Registry. Parents were surveyed using the following vision care measures : (1) child’s vision was tested with pictures, shapes, or letters in the past 2 years ; (2) child’s vision was tested by an eye care practitioner in the past 2 years ; (3) child was prescribed corrective eyeglasses ; and (4) child wore eyeglasses as recommended. Sociodemographic characteristics such as parent education level, child functioning characteristics such as child communication abilities, and family functioning characteristics such as caregiver strain were also assessed in relationship to vision care. Although 78% of children with autism had their vision tested, only 57% had an eye care practitioner test their vision in the past 2 years. Among the 30% of children with autism prescribed corrective eyeglasses, 78% wore their eyeglasses as recommended. Differences in vision care were additionally found among children with autism by parent education, household income, communication abilities, intellectual functioning, and caregiver strain. Overall, study results suggest many school-aged children with autism do not receive recommended vision care and highlight potentially modifiable disparities in vision care.

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12. Mahmood HM, Aldhalaan HM, Alshammari TK, Alqasem MA, Alshammari MA, Albekairi NA, AlSharari SD. The Role of Nicotinic Receptors in the Attenuation of Autism-Related Behaviors in a Murine BTBR T + tf/J Autistic Model. Autism Res ;2020 (Jul 21)

Nicotinic receptors are distributed throughout the central and peripheral nervous system. Postmortem studies have reported that some nicotinic receptor subtypes are altered in the brains of autistic people. Recent studies have demonstrated the importance of nicotinic acetylcholine receptors (nAChRs) in the autistic behavior of BTBR T + tf/J mouse model of autism. This study was undertaken to examine the behavioral effects of targeted nAChRs using pharmacological ligands, including nicotine and mecamylamine in BTBR T + tf/J and C57BL/6J mice in a panel of behavioral tests relating to autism. These behavioral tests included the three-chamber social interaction, self-grooming, marble burying, locomotor activity, and rotarod test. We examined the effect of various oral doses of nicotine (50, 100, and 400 mcg/mL ; po) over a period of 2 weeks in BTBR T + tf/J mouse model. The results indicated that the chronic administration of nicotine modulated sociability and repetitive behavior in BTBR T + tf/J mice while no effects observed in C57BL/6J mice. Furthermore, the nonselective nAChR antagonist, mecamylamine, reversed nicotine effects on sociability and increased repetitive behaviors in BTBR T + tf/J mice. Overall, the findings indicate that the pharmacological modulation of nicotinic receptors is involved in modulating core behavioral phenotypes in the BTBR T + tf/J mouse model. LAY SUMMARY : The involvement of brain nicotinic neurotransmission system plays a crucial role in regulating autism-related behavioral features. In addition, the brain of the autistic-like mouse model has a low acetylcholine level. Here, we report that nicotine, at certain doses, improved sociability and reduced repetitive behaviors in a mouse model of autism, implicating the potential therapeutic values of a pharmacological intervention targeting nicotinic receptors for autism therapy.

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13. Martínez-González AE, Andreo-Martínez P. Prebiotics, probiotics and fecal microbiota transplantation in autism : A systematic review. Rev Psiquiatr Salud Ment ;2020 (Jul 16)

In recent years, there has been an increase in studies of the implications of the gut microbiota (GM) in children with autism spectrum disorder (ASD). There is a hypothesis which propose a relationship between the emotional state and the abundance of intestinal microbes through the so-called microbiota-intestine-brain axis. In this sense, dysbiotic GM could be a contributing factor to the appearance of ASD. This systematic review article analyzes the results of the intervention using prebiotics (carrot powder, vitamin A, partially hydrolyzed guar gum, galactooligosaccharides, etc.), probiotics (mainly : Lactobacillus, Bifidobacterium, etc.) and transplantation of fecal microbiota in ASD children. In conclusion, the results of the initial studies suggest changes in ASD symptoms, gastro-intestinal symptoms and GM composition after the interventions. However, the results should be taken with caution because there are very few studies that analyze the efficacy of long-term treatments and the different combinations of them.

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14. Ola L, Gullon-Scott F. Facial emotion recognition in autistic adult females correlates with alexithymia, not autism. Autism ;2020 (Jul 21):1362361320932727.

Research with autistic males has indicated that difficulties in recognising facial expressions of emotion, commonly associated with autism spectrum conditions, may instead be due to co-occurring alexithymia (a condition involving lack of emotional awareness, difficulty describing feelings and difficulty distinguishing feelings from physical bodily sensations) and not to do with autism. We wanted to explore if this would be true for autistic females, as well as to use more realistic stimuli for emotional expression. In all, 83 females diagnosed with autism spectrum condition completed self-report measures of autism spectrum condition traits and alexithymia and completed a visual test that assessed their ability to identify multimodal displays of complex emotions. Higher levels of alexithymia, but not autism spectrum condition features, were associated with less accuracy in identifying emotions. Difficulty identifying one’s own feelings and externally oriented thinking were the components of alexithymia that were specifically related to facial emotion recognition accuracy. However, alexithymia (and levels of autism spectrum condition traits) was not associated with speed of emotion processing. We discuss the findings in terms of possible underlying mechanisms and the implications for our understanding of emotion processing and recognition in autism.

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15. Olson LA, Mash LE, Linke A, Fong CH, Müller RA, Fishman I. Sex-related patterns of intrinsic functional connectivity in children and adolescents with autism spectrum disorders. Autism ;2020 (Jul 21):1362361320938194.

We investigated whether children and adolescents with autism spectrum disorders show sex-specific patterns of brain function (using functional magnetic resonance imaging) that are well documented in typically developing males and females. We found, unexpectedly, that boys and girls with autism do not differ in their brain functional connectivity, whereas typically developing boys and girls showed differences in a brain network involved in thinking about self and others (the default mode network). Results suggest that autism may be characterized by a lack of brain sex differentiation.

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16. Rodgers M, Marshall D, Simmonds M, Le Couteur A, Biswas M, Wright K, Rai D, Palmer S, Stewart L, Hodgson R. Interventions based on early intensive applied behaviour analysis for autistic children : a systematic review and cost-effectiveness analysis. Health Technol Assess ;2020 (Jul) ;24(35):1-306.

BACKGROUND : Early intensive applied behaviour analysis-based interventions are intensive interventions for autistic children that are often delivered on a one-to-one basis for 20-50 hours per week. OBJECTIVES : To evaluate the clinical effectiveness and cost-effectiveness of early intensive applied behaviour analysis-based interventions for autistic children, based on current evidence. METHODS : A systematic review and individual participant data meta-analysis were conducted to evaluate the clinical effectiveness of an early intensive applied behaviour analysis-based intervention for autistic children. An economic analysis included a review of existing analyses and the development of a new model. RESULTS : Twenty studies were included in the clinical review. Individual participant data were retrieved from 15 of these studies. Results favoured the interventions when assessing adaptive behaviour after 2 years compared with treatment as usual/eclectic interventions (mean difference 7.00, 95% confidence interval 1.95 to 12.06). In analyses of cognitive ability (intelligence quotient), results favoured the interventions by approximately 10 points after 1 year (mean difference 9.16, 95% confidence interval 4.38 to 13.93) and 2 years (mean difference 14.13, 95% confidence interval 9.16 to 19.10). Evidence for other outcomes was limited and meta-analyses were generally inconclusive. There was no evidence that the effect of the interventions varied with characteristics of the children, but data were limited. Adopting a £30,000 per quality-adjusted life-year threshold, the results of the cost-effectiveness analysis indicate that early intensive applied behaviour analysis-based interventions would need to generate larger benefits or cost savings to be cost-effective. Adopting a public sector perspective and making pessimistic assumptions about long-term effects, the incremental cost-effectiveness ratio for early intensive applied behaviour analysis-based therapy compared with treatment as usual is £189,122 per quality-adjusted life-year. When optimistic assumptions are made, the incremental cost-effectiveness ratio is £46,768 per quality-adjusted life-year. Scenario analyses indicated that these interventions can potentially be cost-effective if long-term improvements persist into adulthood, or if they have significant impact on educational placement. Care should be taken when interpreting these scenarios owing to the limited data. LIMITATIONS : All included studies were at risk of bias, there was substantial heterogeneity and effects varied considerably across studies. The effect of intervention on autism symptom severity, language development and school placement remains uncertain because of the limited data. The long-term effects are unclear owing to a lack of follow-up data. CONCLUSIONS : This review found limited evidence that early intensive applied behaviour analysis-based interventions may improve cognitive ability and adaptive behaviour, but the long-term impact of the interventions remains unknown. The economic analysis is constrained by the limited effectiveness evidence, but suggests that these interventions are unlikely to be cost-effective unless clear long-term benefits, or a substantial change in which schools children attend, can be identified. FUTURE WORK : Further studies into the effectiveness of early intensive applied behaviour analysis-based interventions may be warranted if they include well-defined, alternative interventions as comparators and collect relevant outcomes. Consideration should be given to future studies that not only address whether or not early intensive applied behaviour analysis-based interventions are clinically effective, but also aim to identify which components of early intensive applied behaviour analysis-based interventions might drive effectiveness. STUDY REGISTRATION : This study is registered as PROSPERO CRD42017068303. FUNDING : This project was funded by the National Institute for Health Research (NIHR) Health Technology Assessment programme and will be published in full in Health Technology Assessment ; Vol. 24, No. 35. See the NIHR Journals Library website for further project information.

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17. Saikusa T, Kawaguchi M, Tanioka Tetsu TT, Nabatame Shin NS, Takahashi S, Yuge K, Nagamitsu SI, Takahashi T, Yamashita Y, Kobayashi Y, Hirayama C, Kakuma T, Matsuishi T, Itoh M. Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome. Brain Dev ;2020 (Jul 16)

PURPOSE : To investigate walking ability in Japanese patients with Rett syndrome (RTT). METHODS : Walking ability was assessed in 100 female Japanese patients with RTT using univariate and multivariate analysis in all age groups, and in patients over 10 years of age. We analyzed walking ability and confounding factors including prenatal-perinatal histories, developmental milestones, somatic and head growth, anthropometric data, body mass index, age of loss of purposeful hand use, age at onset of stereotypic hand movement, history of autistic behavior, age at regression, presence or absence of seizures, and the results of MECP2 genetic examination from the Japanese Rett syndrome database. RESULTS : Univariate analysis revealed that acquisition of walking in all age groups was significantly correlated with the acquisition of meaningful words, microcephaly, and crawling (P < 0.0001, P = 0.005, P < 0.0001, respectively). Univariate analysis revealed that walking ability over 10 years of age was significantly correlated with acquisition of meaningful words, microcephaly, and body mass index (P < 0,0001, P = 0.005, P = 0.0018, respectively). MECP2 mutations R306C, R133C, and R294X were significantly associated with different acquisition of crawling (P = 0.004) and walking (P = 0.01). Multivariate analysis revealed that only acquisition of meaningful words was significantly correlated with walking ability over 10 years of age. This trend excluded the genetic effects of R306C, R133C, and R294X. CONCLUSIONS : Meaningful word acquisition was robustly associated with walking ability over 10 years. Prognosis of walking ability may be predicted by the acquisition of meaningful words. This information is potentially useful for early intervention and the planning of comprehensive treatment for young children with RTT.

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18. Sasayama D, Kudo T, Kaneko W, Kuge R, Koizumi N, Nomiyama T, Washizuka S, Honda H. Brief Report : Cumulative Incidence of Autism Spectrum Disorder Before School Entry in a Thoroughly Screened Population. J Autism Dev Disord ;2020 (Jul 21)

The present study aimed to identify the cumulative incidence of autism spectrum disorder (ASD) in a thoroughly screened population and to examine the behavioral and motor characteristics observed in children with ASD at the age of 18 months. Subjects were 1067 children who underwent a screening assessment for ASD at the routine 18-months health checkup. By the age of 6 years, 3.1% (4.3% of boys and 2.0% of girls) were diagnosed as having ASD by their attending pediatricians. Higher rate of difficulties in motor skills and social and communication skills had been reported in children with ASD at 18 months of age. This study showed that careful community-based screening system may be helpful in detecting ASD at early age.

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19. Stadnick NA, Lau AS, Dickson KS, Pesanti K, Innes-Gomberg D, Brookman-Frazee L. Service use by youth with autism within a system-driven implementation of evidence-based practices in children’s mental health services. Autism ;2020 (Jul 18):1362361320934230.

Public mental health systems play an important role in caring for youth with autism spectrum disorder. Like other dually diagnosed populations, youth with autism spectrum disorder may receive services in the context of evidence-based practice implementation efforts within public mental health systems. Little is known about service use patterns within the context of system-driven implementations efforts for this population. This case-control study examined mental health service patterns of 2537 youth with autism spectrum disorder compared to 2537 matched peers receiving care in the Los Angeles County Department of Mental Health, the largest public mental health department in the United States, within the context of a system-driven implementation of multiple evidence-based practices. Although not the primary target of this implementation effort, youth with autism spectrum disorder were served when they met criteria for the services based on their presenting mental health symptoms. Comparative analyses using administrative claims data were conducted to examine differences in mental health utilization patterns and clinical characteristics. Findings revealed significant differences in the volume and duration of mental health services as well as differences in the service type and evidence-based practice delivered between youth with and without autism spectrum disorder. Results provide direction targeting implementation efforts for youth with autism spectrum disorder within a public mental health system care reform.

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20. Tiede GM, Walton KM. Social endophenotypes in autism spectrum disorder : A scoping review. Dev Psychopathol ;2020 (Jul 20):1-29.

Endophenotypes are measurable markers of genetic vulnerability to current or future disorder. Autism spectrum disorder (ASD) is well-suited to be examined within an endophenotype framework given past and current emphases on the broader autism phenotype and early detection. We conducted a scoping review to identify potential socially-related endophenotypes of ASD. We focused on paradigms related to sociality (e.g., theory of mind (TOM), social attention), which comprise most of this literature. We integrated findings from traditional behavioral paradigms with brain-based measures (e.g., electroencephalography, functional magnetic resonance imaging). Broadly, infant research regarding social attention and responsivity (Research Domain Criteria (RDoC) domain of affiliation) and attention to faces and voices (social communication) finds consistent abnormality in vulnerable infant siblings. Several additional paradigms that have shown differences in vulnerable infants and young children include animacy perception tasks (perception and understanding of others), measures of recognition and response to familiar faces (attachment), and joint attention and false-belief tasks (understanding mental states). Research areas such as alexithymia (the perception and understanding of self), empathic responding, and vocal prosody may hold interest ; however, challenges in measurement across populations and age ranges is a limiting factor. Future work should address sex differences and age dependencies, specificity to ASD, and heterogeneous genetic pathways to disorder within samples individuals with ASD and relatives.

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21. Wilson AC, Bishop DVM. "Second guessing yourself all the time about what they really mean…" : Cognitive differences between autistic and non-autistic adults in understanding implied meaning. Autism Res ;2020 (Jul 20)

This study investigated cognitive differences between autistic and non-autistic people in understanding implied meaning in conversation using a novel computerized test, the Implicature Comprehension Test. Controlling for core language ability, autistic participants (N = 66) were over twice as likely to endorse a non-normative interpretation of an implied meaning and over five times as likely to select "do not know" when asked about the presence of an implied meaning, compared to non-autistic participants (N = 118). A further experiment suggested that the selection of "do not know" reflected a cognitive preference for certainty and explicit communication, and that the normative inference could often be made when the test format was more constrained. Our research supports the hypothesis that autistic individuals can find it challenging to process language in its pragmatic context, and that cognitive preferences play a role in this. LAY SUMMARY : We investigated differences between autistic and non-autistic people in understanding implied meanings in conversation. We found that autistic people were more likely to select a different interpretation of implied meanings compared to other people, and also much more likely to avoid processing implied meanings when the task allowed this. Our research supports the view that autistic people can find it challenging to process indirect meanings, and that they tend to prefer explicit forms of communication.

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22. Wu HC, Biondo F, O’Mahony C, White S, Thiebaut F, Rees G, Burgess PW. Mentalising and conversation-following in autism. Autism ;2020 (Jul 18):1362361320935690.

Some people with autism spectrum disorders have been observed to experience difficulties with making correct inferences in conversations in social situations. However, the nature and origin of their problem is rarely investigated. This study used manipulations of video stimuli to investigate two questions. The first question was whether it is the number of people involved in social situations, that is, the source of problems in following conversations, or whether it is the increased mentalising demands required to comprehend interactions between several people. The second question asked was whether the nature and pattern of the errors that autism spectrum disorder participants show are the same as typically developing people make when they make an error. In total, 43 typically developed adults and 30 adults diagnosed with autism spectrum disorder were studied. We found that it was the amount of mentalising required, rather than the number of people involved, which caused problems for people with autism spectrum disorder in following conversations. Furthermore, the autism spectrum disorder participants showed a more heterogeneous pattern of errors, showing less agreement among themselves than the typically developed group as to which test items were hardest. So, fully understanding the observed behaviour consequent upon weakness in mentalising ability in people with autism spectrum disorders requires consideration of factors other than mentalising.

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