1. {{Neural Response to Language in Toddlers with Autism Associated with Altered Gene Expression: Widespread and coordinated patterns of gene expression activity in leukocytes was linked to neural responses to speech across the brain}}. {Am J Med Genet A}. 2019; 179(3): 336.
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2. Alexander L, Farrelly N. {{A case of mistaken diagnoses: diagnostic and management challenges in a case of adult autism spectrum disorder}}. {Irish journal of psychological medicine}. 2019: 1-4.
Autism spectrum disorder (ASD) is frequently identified in children but is often unrecognised in adults. ASD is characterised by difficulties in social interaction, communication and restricted interests, but other presentations are common, especially in adults. This report describes a 34-year-old man with a history of multiple psychiatric diagnoses including generalised anxiety disorder, major depressive disorder and panic disorder. He was diagnosed with ASD in his early 30s and engaged in a targeted treatment plan, including rationalisation of medications, supportive therapy and occupational therapy, which successfully facilitated discharge from mental health services. This case illustrates the atypical presentation of ASD in adults, which is diagnostically challenging. Such cases often present to community mental health services and may be misdiagnosed as treatment resistant cases of depressive, anxiety or personality disorders. Accurate diagnosis and targeted management is more likely to yield a successful outcome.
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3. Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW. {{Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons}}. {Stem cell reports}. 2019; 12(2): 427-9.
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4. Duffy FH, Als H. {{Autism, spectrum or clusters? An EEG coherence study}}. {BMC neurology}. 2019; 19(1): 27.
BACKGROUND: Autism prevalence continues to grow, yet a universally agreed upon etiology is lacking despite manifold evidence of abnormalities especially in terms of genetics and epigenetics. The authors postulate that the broad definition of an omnibus ‘spectrum disorder’ may inhibit delineation of meaningful clinical correlations. This paper presents evidence that an objectively defined, EEG based brain measure may be helpful in illuminating the autism spectrum versus subgroups (clusters) question. METHODS: Forty objectively defined EEG coherence factors created in prior studies demonstrated reliable separation of neuro-typical controls from subjects with autism, and reliable separation of subjects with Asperger’s syndrome from all other subjects within the autism spectrum and from neurotypical controls. In the current study, these forty previously defined EEG coherence factors were used prospectively within a large (N = 430) population of subjects with autism in order to determine quantitatively the potential existence of separate clusters within this population. RESULTS: By use of a recently published software package, NbClust, the current investigation determined that the 40 EEG coherence factors reliably identified two distinct clusters within the larger population of subjects with autism. These two clusters demonstrated highly significant differences. Of interest, many more subjects with Asperger’s syndrome fell into one rather than the other cluster. CONCLUSIONS: EEG coherence factors provide evidence of two highly significant separate clusters within the subject population with autism. The establishment of a unitary « Autism Spectrum Disorder » does a disservice to patients and clinicians, hinders much needed scientific exploration, and likely leads to less than optimal educational and/or interventional efforts.
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5. Gumus E. {{A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay}}. {Fetal and pediatric pathology}. 2019: 1-6.
BACKGROUND: Alterations of Neuroligin 3 (NLGN3), located on Xq13, have been reported in autism spectrum disorder (ASD), and include the less frequent Xq13 duplication. CASE REPORT: A boy with an aggressive behavior, no speech and weak social relationships had a de novo Xq13.1 microduplication detected by microarray analysis. CONCLUSION: NLGN3, TAF1, and MED12 alterations, located on Xq13.1, have been associated with ASD. TAF and MED12 have other clinical features not present in our case. This supports that duplication of NLGN3 may be associated with ASD.
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6. Huang Q, Lin LY, Lin XZ. {{Comparison of Remifentanil-Based Fast-Track and Fentanyl-Based Routine Cardiac Anesthesia for Intraoperative Device Closure of Atrial Septal Defect (ASD) in Pediatric Patients}}. {Medical science monitor : international medical journal of experimental and clinical research}. 2019; 25: 1187-93.
BACKGROUND The aim of this study was to evaluate the effectiveness and safety of remifentanil-based fast-track anesthesia for intraoperative device closure of atrial septal defects (ASDs). MATERIAL AND METHODS The clinical data of 152 pediatric patients who received intraoperative device closure of ASD in our hospital from January 2015 to December 2017 were retrospectively analyzed. Patients were divided into 2 groups: group F (remifentanil-based fast-track anesthesia group, n=72) and group C (fentanyl-based routine anesthesia group, n=80). The relevant data from 2 groups were collected and analyzed. RESULTS No significant differences were found in the preoperative data or intraoperative hemodynamic index between these 2 groups. Group C was significantly inferior to group F regarding the duration of mechanical ventilation, length of intensive care unit (ICU) stay, length of hospital stay, and hospitalization expenses (P<0.05). In terms of postoperative complications, no death, third-degree atrioventricular block, occluder detachment, or residual leakage was reported in either group. The incidence of lung infections and bronchospasm was significantly higher in group C than in group F. There were no anesthetic-related complications. CONCLUSIONS The application of remifentanil-based fast-track anesthesia for intraoperative device closure of ASD is as effective and safe as fentanyl-based routine anesthesia. Moreover, remifentanil-based fast-track anesthesia has the advantages of shorter duration of mechanical ventilation, shorter length of hospital and ICU stay, fewer postoperative complications, and lower hospitalization expenses, and is therefore worthy of promotion in clinical practice. Lien vers le texte intégral (Open Access ou abonnement)
7. Lin HY, Perry A, Cocchi L, Roberts JA, Tseng WI, Breakspear M, Gau SS. {{Development of frontoparietal connectivity predicts longitudinal symptom changes in young people with autism spectrum disorder}}. {Translational psychiatry}. 2019; 9(1): 86.
Structural neuroimaging studies suggest altered brain maturation in autism spectrum disorder (ASD) compared with typically developing controls (TDC). However, the prognostic value of whole-brain structural connectivity analysis in ASD has not been established. Diffusion magnetic imaging data were acquired in 27 high-functioning young ASD participants (2 females) and 29 age-matched TDC (12 females; age 8-18 years) at baseline and again following 3-7 years. Whole-brain structural connectomes were reconstructed from these data and analyzed using a longitudinal statistical model. We identified distinct patterns of widespread brain connections that exhibited either significant increases or decreases in connectivity over time (p < 0.001). There was a significant interaction between diagnosis and time in brain development (p < 0.001). This was expressed by a decrease in structural connectivity within the frontoparietal network-and its broader connectivity-in ASD during adolescence and early adulthood. Conversely, these connections increased with time in TDC. Crucially, stronger baseline connectivity in this subnetwork predicted a lower symptom load at follow-up (p = 0.048), independent of the expression of symptoms at baseline. Our findings suggest a clinically meaningful relationship between the atypical development of frontoparietal structural connections and the dynamics of the autism phenotype through early adulthood. These results highlight a potential marker of future outcome. Lien vers le texte intégral (Open Access ou abonnement)
8. Luisier AC, Petitpierre G, Berod AC, Richoz AR, Lao J, Caldara R, Bensafi M. {{Visual and Hedonic Perception of Food Stimuli in Children with Autism Spectrum Disorders and their Relationship to Food Neophobia}}. {Perception}. 2019: 301006619828300.
The present study examined whether children with autism spectrum disorder (ASD) and typically developing (TD) children differed in visual perception of food stimuli at both sensorimotor and affective levels. A potential link between visual perception and food neophobia was also investigated. To these aims, 11 children with ASD and 11 TD children were tested. Visual pictures of food were used, and food neophobia was assessed by the parents. Results revealed that children with ASD explored visually longer food stimuli than TD children. Complementary analyses revealed that whereas TD children explored more multiple-item dishes (vs. simple-item dishes), children with ASD explored all the dishes in a similar way. In addition, children with ASD gave more negative appreciation in general. Moreover, hedonic rating was negatively correlated with food neophobia scores in children with ASD, but not in TD children. In sum, we show here that children with ASD have more difficulty than TD children in liking a food when presented visually. Our findings also suggest that a prominent factor that needs to be considered is time management during the food choice process. They also provide new ways of measuring and understanding food neophobia in children with ASD.
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9. Morris R, Greenblatt A, Saini M. {{Healthcare Providers’ Experiences with Autism: A Scoping Review}}. {J Autism Dev Disord}. 2019.
Gaps in research knowledge exist regarding patient-provider interactions with individuals with autism in healthcare settings. To address this, a scoping review was conducted focusing on the experiences of healthcare professionals working with individuals with autism. A systematic search and screen of the literature resulted in 27 relevant studies. Six key themes were found across these 27 studies including (1) complexity beyond usual role, (2) limited knowledge and resources, (3) training/prior experience, (4) communication and collaboration, (5) need for information and training, and (6) need for care coordination and systemic changes. The results of this review have implications for future research and practice and should be considered when reflecting on opportunities to enhance research and service provision with individuals with autism.
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10. Pretzsch CM, Freyberg J, Voinescu B, Lythgoe D, Horder J, Mendez MA, Wichers R, Ajram L, Ivin G, Heasman M, Edden RAE, Williams S, Murphy DGM, Daly E, McAlonan GM. {{Effects of cannabidiol on brain excitation and inhibition systems; a randomised placebo-controlled single dose trial during magnetic resonance spectroscopy in adults with and without autism spectrum disorder}}. {Neuropsychopharmacology}. 2019.
There is increasing interest in the use of cannabis and its major non-intoxicating component cannabidiol (CBD) as a treatment for mental health and neurodevelopmental disorders, such as autism spectrum disorder (ASD). However, before launching large-scale clinical trials, better understanding of the effects of CBD on brain would be desirable. Preclinical evidence suggests that one aspect of the polypharmacy of CBD is that it modulates brain excitatory glutamate and inhibitory gamma-aminobutyric acid (GABA) levels, including in brain regions linked to ASD, such as the basal ganglia (BG) and the dorsomedial prefrontal cortex (DMPFC). However, differences in glutamate and GABA pathways in ASD mean that the response to CBD in people with and without ASD may be not be the same. To test whether CBD ‘shifts’ glutamate and GABA levels; and examine differences in ASD, we used magnetic resonance spectroscopy (MRS) to measure glutamate (Glx = glutamate + glutamine) and GABA+ (GABA + macromolecules) levels in 34 healthy men (17 neurotypicals, 17 ASD). Data acquisition commenced 2 h (peak plasma levels) after a single oral dose of 600 mg CBD or placebo. Test sessions were at least 13 days apart. Across groups, CBD increased subcortical, but decreased cortical, Glx. Across regions, CBD increased GABA+ in controls, but decreased GABA+ in ASD; the group difference in change in GABA + in the DMPFC was significant. Thus, CBD modulates glutamate-GABA systems, but prefrontal-GABA systems respond differently in ASD. Our results do not speak to the efficacy of CBD. Future studies should examine the effects of chronic administration on brain and behaviour, and whether acute brain changes predict longer-term response.
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11. Shanok NA, Jones NA, Lucas NN. {{The Nature of Facial Emotion Recognition Impairments in Children on the Autism Spectrum}}. {Child Psychiatry Hum Dev}. 2019.
This study examined socio-emotional skills, utilizing a facial emotion recognition (FER) task featuring unfamiliar and familiar faces, in children with autism spectrum disorders (ASD) compared to typically developing (TD) children. Results showed that the TD children were more proficient on the FER overall whereas ASD children recognized familiar expressions more precisely than unfamiliar ones. Further, ASD children did not differ from TD children in recognizing happy expressions but ASD children were less skilled with recognizing negative expressions. Findings suggest that ASD children possess more adept FER abilities than previously thought especially for important social others. Ultimately, a task featuring an array of positive and negative familiar and unfamiliar expressions may provide a more comprehensive assessment of socio-emotional abilities in ASD children.
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12. Spikol A, McAteer D, Murphy J. {{Recognising autism: a latent transition analysis of parental reports of child autistic spectrum disorder ‘red flag’ traits before and after age 3}}. {Social psychiatry and psychiatric epidemiology}. 2019.
PURPOSE: It has been proposed that parents should be educated about child autistic spectrum disorder (ASD) ‘red flag’ traits to help professionals identify and address concerning behaviours as early as possible. This study aimed to empirically demonstrate that established/recognised ‘red flag’ traits in the first 3 years of life would reliably predict ASD risk severity in later childhood, associated with established ASD risk correlates and mirroring functioning diagnostic categories. METHODS: Using retrospective parental report data from the Mental Health of Children and Young People in Great Britain survey (N = 7977), latent class analysis (LCA) and a quasi -latent transition analysis were used to (1) identify profiles of variation in parent reports of child ‘red flag’ traits before and after age 3 and (2) model transitions in risk from 3 years and below to >/= 3 years, respectively, per the ‘optimal outcome’ model. RESULTS: Three distinct classes, each characterised by variation in parent ‘red flag’ trait reporting were identified for the ‘/= 3 years of age’ data. Both LCA class profiles comprised groups of children characterised by low, medium and high ASD risk. Dose-response effects for a number of recognised ASD correlates across the low, moderate and high risk ‘>/= 3 years of age’ classes seemed to validate older classes in terms of ASD relevance. Over 54% of children characterised by the highest levels of ASD ‘red flag’ trait probability at 3 years and below (2% of sample), also populated the high-risk class evidenced in the ‘>/= 3 years of age’ LCA. CONCLUSIONS: Retrospective parental reports of child ASD ‘red flag’ traits Lien vers le texte intégral (Open Access ou abonnement)
13. Topal J, Roman V, Turcsan B. {{The dog (Canis familiaris) as a translational model of autism: It is high time we move from promise to reality}}. {Wiley interdisciplinary reviews Cognitive science}. 2019: e1495.
Selecting appropriate animal models for a particular human phenomenon is a difficult but important challenge. The difficulty lies in finding animal behaviors that are not only sufficiently relevant and analog to the complex human symptoms (face validity) but also have similar underlying biological and etiological mechanisms (translational or construct validity), and have « human-like » responses to treatment (predictive validity). Over the past several years, the domestic dog (Canis familiaris) has become increasingly proposed as a model for comparative and translational neuroscience. In parallel to the recent advances in canine behavior research, dogs have also been proposed as a model of many human neuropsychiatric conditions, including autism spectrum disorder (ASD). In this opinion paper we will shortly discuss the challenging nature of autism research then summarize the different neurocognitive frameworks for ASD making the case for a canine model of autism. The translational value of a dog model stems from the recognition that (a) there is a large inter-individual variability in the manifestation of dogs’ social cognitive abilities including both high and low phenotypic extremes; (b) the phenotypic similarity between the dog and human symptoms are much higher than between the rodent and human symptoms; (c) the symptoms are functionally analogous to the human condition; and (d) more likely to have similar etiology. This article is categorized under: Psychology > Comparative Psychology Cognitive Biology > Evolutionary Roots of Cognition.
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14. Vernon TW, Holden AN, Barrett AC, Bradshaw J, Ko JA, McGarry ES, Horowitz EJ, Tagavi DM, German TC. {{A Pilot Randomized Clinical Trial of an Enhanced Pivotal Response Treatment Approach for Young Children with Autism: The PRISM Model}}. {J Autism Dev Disord}. 2019.
The symptoms of autism spectrum disorder are conceptualized to alter the quality of parent-children interactions, exposure to social learning exchanges, and ultimately the course of child development. There is evidence that modifying the procedures of Pivotal Response Treatment (PRT) to explicitly target social motivation enhances child engagement and parent-child synchrony in moment-by-moment exchanges. However, it is unclear if these within session improvements ultimately yield favorable developmental outcomes over time. The current investigation presents feasibility, utility, and preliminary efficacy data of a pilot randomized clinical trial (RCT) of a Pivotal Response Intervention for Social Motivation (PRISM) model. Data on participant factors, treatment protocol acceptability, and outcome variance and effect size are highly favorable and support the pursuit of a future, large scale RCT.
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15. Williams NJ, Frank HE, Frederick L, Beidas RS, Mandell DS, Aarons GA, Green P, Locke J. {{Organizational culture and climate profiles: relationships with fidelity to three evidence-based practices for autism in elementary schools}}. {Implementation science : IS}. 2019; 14(1): 15.
BACKGROUND: Implementation researchers have typically studied organizational culture and climate by testing whether individual dimensions are linked to the implementation of evidence-based practices (EBPs) rather than examining how the overarching social context influences implementation. This approach may limit implementation theory and strategy development to the extent that individual dimensions of culture and climate interact, mutually reinforce or counteract one another, or exhibit non-linear relationships. This study tests whether empirically identifiable culture and climate profiles emerge in a sample of organizations and examines how these profiles relate to EBP fidelity and work attitudes that support EBP sustainment, focusing on three EBPs for youth with autism delivered in schools as an example. METHODS: The study included 65 elementary schools in the U.S. that implemented three EBPs-discrete trial training, pivotal response training, and visual schedules-for youth with autism. Organizational culture and climate and work attitudes were assessed using the Organizational Social Context measure at the beginning of the school year. Observations of EBP fidelity occurred mid school-year. We used bias-adjusted stepwise latent profile modeling to (1) identify subpopulations of schools that share similar culture and climate profiles, and (2) test for mean differences across profiles in observed EBP fidelity and teacher and staff work attitudes. RESULTS: Controlling for region, four profiles best characterized the organizational cultures and climates of schools. Teachers and staff in schools with a comprehensive profile (high proficiency culture, positive climate) exhibited higher fidelity to two of three EBPs (d’s = .95 to 1.64) and reported superior work attitudes (d’s = .71 to 1.93) than teachers and staff in all other schools. Teachers and staff in supportive schools (low rigidity culture, positive climate) had better work attitudes, but not better fidelity, than those in schools with indifferent (low culture/climate, elevated stress) and constrained (high rigidity and resistance, high stress) profiles. CONCLUSIONS: Organizational culture and climate profiles are a strong predictor of EBP fidelity and work attitudes that support EBP sustainment, highlighting the importance of an organization’s overarching social context when developing implementation theory and strategies. Strategies that foster a comprehensive profile may improve EBP implementation.
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16. Yeung MK, Lee TL, Chan AS. {{Impaired Recognition of Negative Facial Expressions is Partly Related to Facial Perception Deficits in Adolescents with High-Functioning Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2019.
Accumulating studies have reported facial emotion recognition or facial perception impairments in autism spectrum disorder (ASD). To clarify the specificity of the emotion recognition impairment, this study examined the relationships between facial emotion recognition and facial perception abilities in ASD. Twenty-two adolescents with high-functioning ASD (20 males) and 22 typically developing (TD) adolescents (16 males) aged 11-18 years undertook a facial emotion labeling task and a facial perception test. We found that adolescents with ASD had deficits in recognizing negative facial expressions, which correlated with both facial perception deficits and severity of social impairment. In addition, the emotion recognition deficits remained after adjusting for facial perception performance. Thus, our findings suggest an emotion-specific impairment in facial emotion recognition in ASD.
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17. Yeung MK, Lee TL, Chan AS. {{Frontal Lobe Dysfunction Underlies the Differential Word Retrieval Impairment in Adolescents with High-Functioning Autism}}. {Autism Res}. 2019.
There is substantial evidence of word retrieval impairment as indicated by poor performance on the category fluency test in autism spectrum disorder (ASD). However, little is known about the neural mechanisms underlying this impairment. Functional neuroimaging studies have shown that the lateral frontal cortex plays a key role in flexible word retrieval. Thus, we examined whether individuals with ASD exhibited altered frontal processing during the category fluency test using functional near-infrared spectroscopy (fNIRS). Twenty-two adolescents with high-functioning ASD (20 males) and 22 typically developing (TD) adolescents (16 males) aged 11-18 years were recruited. All underwent a category fluency paradigm, which required production of animal or means of transportation words for 1 min each although their frontal hemodynamic changes were recorded with fNIRS. We found that adolescents with ASD produced fewer animal but not transportation words (group-by-category interaction: P = 0.003), suggesting differential word retrieval impairment. In addition, unlike TD adolescents who exhibited activation primarily in lateral frontal regions during word production, adolescents with ASD had comparable activation across lateral and medial frontal regions. More importantly, this lack of lateral-medial distinction of activation, which was associated with poor word retrieval, differed significantly between groups only in the animal category (group-by-category interaction: P = 0.018). Thus, our findings implicate frontal lobe dysfunction in the impairment of differential word retrieval in adolescents with ASD. The relatively greater involvement of the medial frontopolar cortex might reflect the use of nonspecialized brain regions to compensate for the category-dependent difficulties with word retrieval in ASD. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Using an optical imaging tool, we found that adolescents with autism had difficulties with producing semantically related words and exhibited frontal lobe dysfunction. Nonetheless, poor word production and altered brain processing was only seen when these adolescents were asked to produce words from a category of living things but not nonliving things (i.e., animals but not means of transportation). Category-dependent word retrieval problems and frontal lobe dysfunction might be two features of this disorder.
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18. Zhou WZ, Zhang J, Li Z, Lin X, Li J, Wang S, Yang C, Wu Q, Ye AY, Wang M, Wang D, Pu TZ, Wu YY, Wei L. {{Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations}}. {Human mutation}. 2019.
Autism spectrum disorder (ASD) is a childhood neuropsychiatric disorder with a complex genetic architecture. The diagnostic potential of a targeted panel of ASD genes has only been evaluated in small cohorts to date and is especially understudied in the Chinese population. Here, we designed a capture panel with 358 genes (111 syndromic and 247 non-syndromic) for ASD and sequenced a Chinese cohort of 539 cases evaluated with the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) as well as 512 controls. ASD cases were found to carry significantly more ultra-rare functional variants than controls. A subset of 78 syndromic and 54 non-syndromic genes were the most significantly associated and should be given high priority in future screening of ASD patients. Pathogenic and likely pathogenic variants were detected in 9.5% of cases. Variants in SHANK3 and SHANK2 were the most frequent, especially in females, and occurred in 1.2% of cases. Duplications of 15q11-13 were detected in 0.8% of cases. Variants in CNTNAP2 and MEF2C were correlated with epilepsy/tics in cases. Our findings reveal the diagnostic potential of ASD genetic panel testing and new insights regarding the variant spectrum. Genotype-phenotype correlations may facilitate the diagnosis and management of ASD. This article is protected by copyright. All rights reserved.
