1. Abbasi J. {{In-home Robots Improve Social Skills in Children With Autism}}. {Jama}. 2018; 320(14): 1425.
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2. Arnett AB, Hudac CM, DesChamps TD, Cairney BE, Gerdts J, Wallace AS, Bernier RA, Webb SJ. {{Auditory perception is associated with implicit language learning and receptive language ability in autism spectrum disorder}}. {Brain and language}. 2018; 187: 1-8.
BACKGROUND: Autism spectrum disorder (ASD) is associated with language impairment as well as atypical auditory sensory processing. The current study investigated associations among auditory perception, implicit language learning and receptive language ability in youth with ASD. METHODS: We measured auditory event related potentials (ERP) during an artificial language statistical learning task in 76 youth with ASD and 27 neurotypical (NT) controls. Participants with ASD had a broad range of cognitive and language abilities. RESULTS: NT youth showed evidence of implicit learning via attenuated P1 amplitude in the left hemisphere. In contrast, among youth with ASD, implicit learning elicited bilateral attenuation that was increasingly evident with greater receptive language skill. CONCLUSIONS: Efficient early auditory perception reflects language learning and is a marker of language ability among youth with ASD. Atypical lateralization of word learning is evident in ASD across a broad range of receptive language abilities.
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3. Blanchette CA, Amirova J, Bohbot VD, West GL. {{Autistic traits in neurotypical individuals are associated with increased landmark use during navigation}}. {PsyCh journal}. 2018.
People adopt two distinct learning strategies during navigation. « Spatial learners » navigate by building a cognitive map using environmental landmarks, and display more grey matter in the hippocampus. Conversely, « response learners » memorize a series of rigid turns to navigate and display more grey matter in the caudate nucleus of the striatum. Evidence has linked these two structures with autism spectrum disorder (ASD) and autistic traits in non-clinical populations. Both people with ASD and neurotypical people with higher levels of autistic traits have been shown to display more grey matter in the hippocampus and less functional activity in the caudate nucleus. We therefore tested 56 healthy participants who completed the Autism Quotient (AQ) Scale and the 4-on-8 Virtual Maze (4/8 VM), which determines the reliance on landmarks during navigation. We found that people who relied on landmarks during navigation also displayed significantly higher scores on the AQ Scale. Because spatial strategies are associated with increased attention to environmental landmark use and are supported by the hippocampus, our results provide a potential behavioral mechanism linking higher autistic traits (e.g., increased attention to detail and increased sensory processes) to increased hippocampal grey matter.
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4. Dai YC, Zhang HF, Schon M, Bockers TM, Han SP, Han JS, Zhang R. {{Neonatal Oxytocin Treatment Ameliorates Autistic-Like Behaviors and Oxytocin Deficiency in Valproic Acid-Induced Rat Model of Autism}}. {Frontiers in cellular neuroscience}. 2018; 12: 355.
Autism spectrum disorder (ASD) is characterized by impaired social communication and repetitive/stereotyped behaviors. The neuropeptide oxytocin (OXT) plays a critical role in regulating social behaviors in the central nervous system, as indicated in both human and animal studies. We hypothesized that central OXT deficit is one of causes of etiology of ASD, which may be responsible for the social impairments. To test our hypothesis, central OXT system was examined in valproic acid (VPA)-induced rat model of autism (VPA rat). Our results showed that adolescent VPA rats exhibited a lower level of OXT mRNA and fewer OXT-ir cells in the hypothalamus than control rats. Additionally, OXT concentration in cerebrospinal fluid (CSF) was reduced. The number of OXT-ir cells in the supraoptic nucleus (SON) of neonatal VPA rats was also lower. Autistic-like behaviors were observed in these animals as well. We found that an acute intranasal administration of exogenous OXT restored the social preference of adolescent VPA rats. Additionally, early postnatal OXT treatment had long-term effects ameliorating the social impairments and repetitive behaviors of VPA rats until adolescence. This was accompanied by an increase in OXT-ir cells. Taken together, we demonstrated there was central OXT deficiency in the VPA-induced rat model of autism, and showed evidence that early postnatal OXT treatment had a long-term therapeutic effect on the autistic-like behaviors in VPA rats.
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5. Dan B. {{Very early diagnosis of autism spectrum disorder}}. {Developmental medicine and child neurology}. 2018; 60(11): 1066.
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6. Hall-Lande J, Esler AN, Hewitt A, Gunty AL. {{Age of Initial Identification of Autism Spectrum Disorder in a Diverse Urban Sample}}. {Journal of autism and developmental disorders}. 2018.
This paper examines age of autism spectrum disorder (ASD) identification and related factors in a diverse urban sample, focusing on ASD identification in the East African Somali community. The overall average age of initial ASD identification was 4.8 years. Somali children received an initial clinical diagnosis of Autistic Disorder later than White children, and Somali children diagnosed with ASD born outside of Minnesota (MN) received their first comprehensive evaluation later than Somali children diagnosed with ASD born in MN. Most children had noted developmental concerns before age 3, with no significant racial or ethnic differences in those concerns. The current study contributes to a limited number of studies on early ASD identification in culturally and linguistically diverse populations.
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7. Knuppel A, Telleus GK, Jakobsen H, Lauritsen MB. {{Quality of life in adolescents and adults with autism spectrum disorder: Results from a nationwide Danish survey using self-reports and parental proxy-reports}}. {Research in developmental disabilities}. 2018; 83: 247-59.
BACKGROUND: Quality of life (QoL) in individuals with autism spectrum disorder (ASD) is essential to investigate with regard to knowledge about factors of importance for QoL and concordance between self-reported and parental proxy-reported QoL. AIMS: This study investigated QoL in adolescents and adults with ASD using both self-reports and parental proxy-reports. METHODS: From a nationwide survey, 1738 individuals diagnosed with ASD in childhood, were included for this study. The individuals themselves and/or their parents completed the INICO-FEAPS scale. Concordance between self-reports and proxy-reports were examined, and factors associated with QoL were explored via linear regression models. RESULTS: Compared to proxy-reported QoL scores, self-reported QoL scores were significantly but only slightly higher and not in every QoL domain. Independent of respondent type it was found that psychiatric comorbidity, sleeping difficulty, intellectual disability, maladaptive behavior, adaptive functioning, autism symptomatology, main daytime activity and residence were associated with QoL. CONCLUSION: Proxy-reported QoL is different from self-reported QoL and should be considered as an alternative source of information. QoL might be enhanced when factors associated with QoL are improved. However, large variations in QoL were found for most factors, suggesting the need to involve the individuals with ASD and/or their families when improving their QoL.
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8. Levy SE, Pinto-Martin JA, Bradley CB, Chittams J, Johnson SL, Pandey J, Pomykacz A, Ramirez A, Reynolds A, Rubenstein E, Schieve LA, Shapira SK, Thompson A, Young L, Kral TVE. {{Relationship of Weight Outcomes, Co-Occurring Conditions, and Severity of Autism Spectrum Disorder in the Study to Explore Early Development}}. {The Journal of pediatrics}. 2018.
OBJECTIVE: To assess contributing factors to increased obesity risk, by comparing children with autism spectrum disorder (ASD), developmental delays/disorders, and general population controls in weight status, and to examine associations between weight status and presence of co-occurring medical, behavioral, developmental, or psychiatric conditions across groups and ASD severity among children with ASD. STUDY DESIGN: The Study to Explore Early Development is a multisite cross-sectional study of children, 2-5 years of age, classified as children with ASD (n = 668), children with developmental delays/disorders (n = 914), or general population controls (n = 884). Using an observational cohort design, we compared the 3 groups. Children’s heights and weights were measured during a clinical visit. Co-occurring conditions (medical, behavioral, developmental/psychiatric) were derived from medical records, interviews, and questionnaires. ASD severity was measured by the Ohio State University Global Severity Scale for Autism. RESULTS: The odds of overweight/obesity were 1.57 times (95% CI 1.24-2.00) higher in children with ASD than general population controls and 1.38 times (95% CI 1.10-1.72) higher in children with developmental delays/disorders than general population controls. The aORs were elevated for children with ASD after controlling for child co-occurring conditions (ASD vs general population controls: aOR = 1.51; 95% CI 1.14-2.00). Among children with ASD, those with severe ASD symptoms were 1.7 times (95% CI 1.1-2.8) more likely to be classified as overweight/obese compared with children with mild ASD symptoms. CONCLUSIONS: Prevention of excess weight gain in children with ASD, especially those with severe symptoms, and in children with developmental delays/disorders represents an important target for intervention.
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9. Mulder PA, Huisman S, Landlust AM, Moss J, Piening S, Hennekam RC, van Balkom IDC. {{Development, behaviour and autism in individuals with SMC1A variants}}. {Journal of child psychology and psychiatry, and allied disciplines}. 2018.
INTRODUCTION: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. METHODS: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. RESULTS: Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. CONCLUSIONS: Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families.
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10. Nagase K. {{Relationship Between Autism Spectrum Disorder Characteristics and Humor Appreciation in Typically Developing Individuals}}. {Psychological reports}. 2018: 33294118804999.
Extant research regarding humor appreciation in individuals with autism spectrum disorder has been equivocal. This study aims to clarify the relationship between the severity of autism spectrum disorder characteristics and humor appreciation in typically developing individuals. We hypothesized that the severity of autistic traits would have a U-shaped linear relationship with humor appreciation. Eighty typically developing undergraduates between the ages of 18 and 22 years ( Mage = 20.20; SDage = 1.08) were recruited for this study. They were asked to answer 24 statements, devised to measure humor appreciation, in response to a joke stimulus comprising 12 typically funny daily life occurrences (two statements per episode). The participants also responded to the Japanese version of the Autism-Spectrum Quotient. A significant U-shaped relationship was observed between the severity of autistic traits and appreciation of humor. A similar significant U-shaped relationship was seen between humor appreciation and the Autism-Spectrum Quotient subscales of attention switching, communication, and imagination. Humor appreciation showed no significant U-shaped relationship with the Autism-Spectrum Quotient subscales of social skills and local details. This study identified ways that autistic traits may influence how people appreciate humor. These findings are discussed in relation to cognitive processes underlying humor appreciation.
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11. Sacrey LR, Zwaigenbaum L, Bryson S, Brian J, Smith IM, Raza S, Roberts W, Szatmari P, Vaillancourt T, Roncadin C, Garon N. {{Developmental trajectories of adaptive behavior in autism spectrum disorder: a high-risk sibling cohort}}. {Journal of child psychology and psychiatry, and allied disciplines}. 2018.
BACKGROUND: Children with autism spectrum disorder (ASD) often experience impairments in adaptive behavior. METHODS: Developmental trajectories of adaptive behavior in ASD were examined in children from high-risk (siblings of children diagnosed with ASD, n = 403) and low-risk (no family history of ASD, n = 163) families. Children were assessed prospectively at 12, 18, 24, and 36 months of age using the Vineland Adaptive Behavior Scales and underwent a blind independent diagnostic assessment for ASD at 36 months of age. RESULTS: The semi-parametric group-based modeling approach using standard scores on the Adaptive Behavior Composite revealed three distinct developmental trajectories: (a) Group 1 (21.2% of sample) showed average performance at 12 months and a declining trajectory; (b) Group 2 (52.8% of the sample) showed average performance at 12 months with a slightly declining trajectory; and (c) Group 3 (26.0% of the sample) showed a higher level of adaptive behavior at 12 months and a stable trajectory. The Mullen Scales of Early Learning Early Learning Composite and the Autism Observation Scale for Infants total score at 6 and 12 months predicted trajectory membership. CONCLUSIONS: The results emphasize heterogeneous development associated with ASD and the need for interventions tailored to individual presentations.
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12. Sevincok D, Kutlu A, Memis CO, Dogan B, Cakaloz B, Sevincok L. {{The autistic-like and schizotypal traits in adolescent patients with obsessive-compulsive disorder}}. {Asian journal of psychiatry}. 2018.
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13. Solomon R. {{Commentary: Evidence based interventions for children and adolescents with Autism Spectrum Disorders}}. {Current problems in pediatric and adolescent health care}. 2018.
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14. Sun F, Cao MQ, Jing J. {{[Sleep problems in children with autism spectrum disorder]}}. {Zhonghua er ke za zhi = Chinese journal of pediatrics}. 2018; 56(10): 790-3.
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15. Tessier MP, Pennestri MH, Godbout R. {{Heart rate variability of typically developing and autistic children and adults before, during and after sleep}}. {International journal of psychophysiology : official journal of the International Organization of Psychophysiology}. 2018; 134: 15-21.
INTRODUCTION: Studies suggest a sympathetic-parasympathetic disequilibrium in children with autism spectrum disorder (ASD), compared to typically developing (TD) children. The autonomic nervous system (ANS) shows profound modification with age but studies in ASD adults are lacking. The ANS is also influenced by vigilance states such as wakefulness and sleep. The aim of this study is to explore differences in ANS activity in typically developing (TD) and ASD individuals during sleep and wakefulness, as a function of age. METHODS: Four groups of participants (17 adults with ASD, 16 TD adults, 13 children with ASD and 13 TD children) were recorded for two consecutive nights in a sleep laboratory. Electrocardiogram (ECG) was sampled during wakefulness (before and after sleep) and during stage N2 and REM sleep. Groups were compared on their heart rate variability parameters (LFnu, HFnu, LF/HF ratio) in each vigilance state. RESULTS: Results show that ASD adults had lower HFnu in the morning than TD adults (p<0.05). During REM sleep, adults had higher LF/HF ratio than children, regardless of their clinical status (p<0.05). CONCLUSIONS: Results of this study show autonomic distinctiveness during wakefulness specifically in ASD adults, suggesting a lower parasympathetic activity in the morning. Whether this characteristic represents a developmental feature or is related to lower sleep quality remains to be clarified. Lien vers le texte intégral (Open Access ou abonnement)
16. Tsai PT, Rudolph S, Guo C, Ellegood J, Gibson JM, Schaeffer SM, Mogavero J, Lerch JP, Regehr W, Sahin M. {{Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors}}. {Cell reports}. 2018; 25(2): 357-67.e4.
Despite a prevalence exceeding 1%, mechanisms underlying autism spectrum disorders (ASDs) are poorly understood, and targeted therapies and guiding parameters are urgently needed. We recently demonstrated that cerebellar dysfunction is sufficient to generate autistic-like behaviors in a mouse model of tuberous sclerosis complex (TSC). Here, using the mechanistic target of rapamycin (mTOR)-specific inhibitor rapamycin, we define distinct sensitive periods for treatment of autistic-like behaviors with sensitive periods extending into adulthood for social behaviors. We identify cellular and electrophysiological parameters that may contribute to behavioral rescue, with rescue of Purkinje cell survival and excitability corresponding to social behavioral rescue. In addition, using anatomic and diffusion-based MRI, we identify structural changes in cerebellar domains implicated in ASD that correlate with sensitive periods of specific autism-like behaviors. These findings thus not only define treatment parameters into adulthood, but also support a mechanistic basis for the targeted rescue of autism-related behaviors.
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17. Ure A, Rose V, Bernie C, Williams K. {{Autism: One or many spectrums?}}. {Journal of paediatrics and child health}. 2018; 54(10): 1068-72.
Our conceptualisation of autism spectrum disorder has changed over time, with recent classifications reflecting a heterogeneous clinical presentation now regularly encountered in routine general paediatric practice. As the prevalence of autism and associated demands for services have increased so has research into understanding the cause and trials aimed at providing best care and intervention. However, the heterogeneity of autism has meant that no single aetiology can account for all differences in presentation, and not all children benefit from broad-based interventions. Now is the time to rethink how best to understand individual differences in order to focus research efforts and take steps towards more sophisticated strategies that go beyond the behaviours we look for when making an autism diagnosis. We suggest adopting a dimensional approach to autism assessment, with the consideration of eight spectrums of abilities, ways of thinking and behaviour. This eight-spectrum approach will assist clinicians to consider each individual’s strengths and needs and personalise interventions and support accordingly. Profiling individual skills across these dimensions may also provide researchers with a greater capacity to link causal pathways with specific phenotypes, which is needed to develop precision medicine for autism.
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18. Vousden B, Wilkes-Gillan S, Cordier R, Froude E. {{The play skills of children with high-functioning autism spectrum disorder in peer-to-peer interactions with their classmates: A multiple case study design}}. {Australian occupational therapy journal}. 2018.
BACKGROUND/AIM: Children with ASD are known to have lower play skills than their typically developing peers. However, the play skills of children with ASD are rarely investigated using observational measures in the context of their everyday peer-to-peer play interactions. To explore the play skills of children with ASD and their aged matched classmates during a peer-to-peer play interaction. METHODS: Using convenience sampling, four children with ASD (5-11 years) attending mainstream schools were recruited for this multiple case design study. Each child with ASD was paired with one of their aged matched typically developing classmates. Children’s play skills were measured using the Test of Playfulness (ToP). Additional case data were collected through teacher-reported social skills and behaviours. Rasch analysis was utilised to convert raw ToP scores into an interval level overall score for each child. Children’s individual ToP item scores, social skills and behaviours are presented by case. RESULTS: The two children with ASD who had the highest ToP scores, also had the highest teacher-reported social skills. All children with ASD had greatest difficulty on ToP items reflecting suspension of reality and framing. Two children with ASD had higher ToP scores than their classmate. In these two cases, the classmates had similar play skills of children with ASD. CONCLUSION: The play skills of children with ASD varied by case. Across the cases, teacher-reported social skills, classmate age and existence of friendship between children were all factors observed to influence play. These findings require replication and investigation in larger scale studies.
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19. Yan J, Porch MW, Court-Vazquez B, Bennett MVL, Zukin RS. {{Activation of autophagy rescues synaptic and cognitive deficits in fragile X mice}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018; 115(41): E9707-e16.
Fragile X syndrome (FXS) is the most frequent form of heritable intellectual disability and autism. Fragile X (Fmr1-KO) mice exhibit aberrant dendritic spine structure, synaptic plasticity, and cognition. Autophagy is a catabolic process of programmed degradation and recycling of proteins and cellular components via the lysosomal pathway. However, a role for autophagy in the pathophysiology of FXS is, as yet, unclear. Here we show that autophagic flux, a functional readout of autophagy, and biochemical markers of autophagy are down-regulated in hippocampal neurons of fragile X mice. We further show that enhanced activity of mammalian target of rapamycin complex 1 (mTORC1) and translocation of Raptor, a defining component of mTORC1, to the lysosome are causally related to reduced autophagy. Activation of autophagy by delivery of shRNA to Raptor directly into the CA1 of living mice via the lentivirus expression system largely corrects aberrant spine structure, synaptic plasticity, and cognition in fragile X mice. Postsynaptic density protein (PSD-95) and activity-regulated cytoskeletal-associated protein (Arc/Arg3.1), proteins implicated in spine structure and synaptic plasticity, respectively, are elevated in neurons lacking fragile X mental retardation protein. Activation of autophagy corrects PSD-95 and Arc abundance, identifying a potential mechanism by which impaired autophagy is causally related to the fragile X phenotype and revealing a previously unappreciated role for autophagy in the synaptic and cognitive deficits associated with fragile X syndrome.
