1. {{Erratum: Immunoexcitotoxicity as the central mechanism of etiopathology and treatment of autism spectrum disorders: A possible role of fluoride and aluminum}}. {Surgical neurology international}. 2018; 9: 98.
[This corrects the article on p. 74 in vol. 9, PMID: 29721353.].
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2. Crane L, Batty R, Adeyinka H, Goddard L, Henry LA, Hill EL. {{Autism Diagnosis in the United Kingdom: Perspectives of Autistic Adults, Parents and Professionals}}. {J Autism Dev Disord}. 2018.
Accessing an autism diagnosis is a key milestone, both for an individual and their family. Using a qualitative methodology, the current study examined the views and experiences of ten autistic adults, ten parents of children on the autism spectrum, and ten professionals involved in autism diagnosis, all based in the United Kingdom (UK). Interviewing these 30 respondents about the diagnostic process and subsequent support options, the goal was to identify aspects of the diagnostic process that are working well, and areas in which improvements are needed. Using thematic analysis, three key themes were identified: the process of understanding and accepting autism; multiple barriers to satisfaction with the diagnostic process; and inadequate post-diagnostic support provision.
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3. Faundez V, De Toma I, Bardoni B, Bartesaghi R, Nizetic D, de la Torre R, Cohen Kadosh R, Herault Y, Dierssen M, Potier MC. {{Translating molecular advances in Down syndrome and Fragile X syndrome into therapies}}. {Eur Neuropsychopharmacol}. 2018; 28(6): 675-90.
Ongoing treatments for genetic developmental disorders of the central nervous system are mostly symptomatic and do not correct the genetic cause. Recent identification of common mechanisms between diseases has suggested that new therapeutic targets could be applied across intellectual disabilities with potential disease-modifying properties. The European Down syndrome and other genetic developmental disorders (DSG2D) network joined basic and clinical scientists to foster this research and carry out clinical trials. Here we discuss common mechanisms between several intellectual disabilities from genetic origin including Down’s and Fragile X syndromes: i) how to model these complex diseases using neuronal cells and brain organoids derived from induced pluripotent stem cells; ii) how to integrate genomic, proteomic and interactome data to help defining common mechanisms and boundaries between diseases; iii) how to target common pathways for designing clinical trials and assessing their efficacy; iv) how to bring new neuro-therapies, such as noninvasive brain stimulations and cognitive training to clinical research. The basic and translational research efforts of the last years have utterly transformed our understanding of the molecular pathology of these diseases but much is left to be done to bring them to newborn babies and children to improve their quality of life.
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4. Gauthier S, Anzalone SM, Cohen D, Zaoui M, Chetouani M, Villa F, Berthoz A, Xavier J. {{Behavioral Own-Body-Transformations in Children and Adolescents With Typical Development, Autism Spectrum Disorder, and Developmental Coordination Disorder}}. {Front Psychol}. 2018; 9: 676.
Background: In motor imitation, taking a partner’s perspective often involves a mental body transformation from an embodied, ego-centered viewpoint to a disembodied, hetero-centered viewpoint. Impairments of both own-body-transformation (OBT) and abnormalities in visual-spatial processing have been reported in patients with neurodevelopmental disorders including autism spectrum disorder (ASD). In the context of a visual-motor interactive task, studying OBT impairments while disentangling the contribution of visual-spatial impairments associated with motor coordination problems has not been investigated. Methods: 85 children and adolescents (39 controls with typical development, TD; 29 patients with ASD; 17 patients with developmental coordination disorder, DCD), aged 6-19 years, participated in a behavioral paradigm in which participants interacted with a virtual tightrope walker (TW) standing and moving with him. The protocol enables to distinguish ego-centered and hetero-centered perspectives. Results: We show that (1) OBT was possible but difficult for children with neurodevelopmental disorders, as well as for TD children, when the task required the participant to perform a mental rotation in order to adopt a hetero-centered perspective. (2) Using multivariate models, hetero-centered perspective score was significantly associated with age, TW orientation, latency, and diagnosis. ASD and TD groups’ performances were close and significantly correlated with age. However, it was not the case for DCD, since this group was specifically handicapped by visual-spatial impairments. (3) ASD and DCD did not perform similarly: motor performance as shown by movement amplitude was better in DCD than ASD. ASD motor response was more ambiguous and hardly readable. Conclusion: Changing perspective in a spatial environment is possible for patients with ASD although delayed compared with TD children. In patients with DCD, their visual-spatial impairments negatively modulated their performances in the experiment.
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5. Giacardy P, Viellard M, Chatel C, Jourdan E, Avenel E, Elissalde S, Grandgeorge P, Murdymootoo V, Guivarch J, Boyer L, Poinso F. {{[Sensory modulation disorders and impairments in adaptative skills in autism spectrum disorders]}}. {Archives de pediatrie : organe officiel de la Societe francaise de pediatrie}. 2018.
INTRODUCTION: People suffering from autism spectrum disorders (ASD) provide atypical responses to sensorial stimulations, indicating specific sensory processing. These responses vary from one another and within the same individual with ASD, resulting in maladaptive functional capacities in everyday life. Factors explaining those specificities are poorly defined and need to be better identified. OBJECTIVES: To examine the relationship between sensory modulation symptoms (SMSs) and maladaptive behaviors in a group of children with ASD. To study how the sensory processing patterns in ASD are related to chronological age, intensity of autistic symptoms, and associated intellectual disability. METHOD: A transversal observational study of a group of children with ASD was conducted for 1 year in an Autism Resource Centre in Marseille, France. The SMSs were assessed using the Dunn short sensory profile. The adaptive behaviors and social quotient were assessed using the Vineland adaptive behavior scale. RESULTS: Forty-five children with ASD completed both scales. Significant correlations were found between SMS intensity and the children’s adaptive behaviors. Furthermore, chronological age and intellectual disability showed a significant relationship with SMS intensity; chronological age and intellectual disability were also found to be significantly related. However, the severity of autistic symptoms was not associated with the intensity of SMSs. CONCLUSION: These outcomes give a better understanding of sensory processing in ASD. The analysis of sensory processing is valuable during the diagnostic phase and for the development of individualized/custom-tailored interventions.
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6. Jewett KA, Lee KY, Eagleman DE, Soriano S, Tsai NP. {{Dysregulation and restoration of homeostatic network plasticity in fragile X syndrome mice}}. {Neuropharmacology}. 2018; 138: 182-92.
Chronic activity perturbations in neurons induce homeostatic plasticity through modulation of synaptic strength or other intrinsic properties to maintain the correct physiological range of excitability. Although similar plasticity can also occur at the population level, what molecular mechanisms are involved remain unclear. In the current study, we utilized a multielectrode array (MEA) recording system to evaluate homeostatic neural network activity of primary mouse cortical neuron cultures. We demonstrated that chronic elevation of neuronal activity through the inhibition of GABA(A) receptors elicits synchronization of neural network activity and homeostatic reduction of the amplitude of spontaneous neural network spikes. We subsequently showed that this phenomenon is mediated by the ubiquitination of tumor suppressor p53, which is triggered by murine double minute-2 (Mdm2). Using a mouse model of fragile X syndrome, in which fragile X mental retardation protein (FMRP) is absent (Fmr1 knockout), we found that Mdm2-p53 signaling, network synchronization, and the reduction of network spike amplitude upon chronic activity stimulation were all impaired. Pharmacologically inhibiting p53 with Pifithrin-alpha or genetically employing p53 heterozygous mice to enforce the inactivation of p53 in Fmr1 knockout cultures restored the synchronization of neural network activity after chronic activity stimulation and partially corrects the homeostatic reduction of neural network spike amplitude. Together, our findings reveal the roles of both Fmr1 and Mdm2-p53 signaling in the homeostatic regulation of neural network activity and provide insight into the deficits of excitability homeostasis seen when Fmr1 is compromised, such as occurs with fragile X syndrome.
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7. Kuehn B. {{Uptick in Autism}}. {Jama}. 2018; 319(22): 2264.
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8. Kurz R, Huemer J, Muchitsch E, Feucht M. {{Cognitive behavioral therapy for children with autism spectrum disorder: A prospective observational study}}. {European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society}. 2018.
OBJECTIVE: To evaluate prospectively the effectiveness of cognitive behavioral therapy (CBT) in children with autism spectrum disorder (ASD). METHODS: Drug-naive children who met the DSM-V criteria for a diagnosis of ASD were recruited from a day care center, specialized in long-term treatment of children and adolescents with ASD. Symptom assessment was performed using the Aberrant Behavior Checklist (ABC) before (base-line) and after 12 months (follow-up) of CBT. RESULTS: Nine boys with a mean age of 6 (+/-2.0) years were included. Compared to baseline, significant improvements of symptoms of irritability (p = 0.012), hyperactivity (p = 0.008) and lethargy (p = 0.008) were observed at follow-up. CONCLUSION: Results indicate that CBT is an effective therapy for children with ASD. Larger studies are needed to give more details about which symptoms respond best in these patients.
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9. Lees C. {{Prenatal Ultrasonography and Autism Spectrum Disorder}}. {JAMA Pediatr}. 2018.
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10. Mash LE, Klein RM, Townsend J. {{Brief Report: A Gaming Approach to the Assessment of Attention Networks in Autism Spectrum Disorder and Typical Development}}. {J Autism Dev Disord}. 2018.
Attentional impairments are among the earliest identifiable features of autism spectrum disorders (ASDs). Three attention networks have been extensively studied using the attention network test (ANT), but this long and repetitive task may pose challenges for individuals with ASDs. The AttentionTrip was developed as a more engaging measure of attention network efficiency. In 20 adults with ASDs and 20 typically developing controls, both tasks produced typical network scores (all p < .003, all Cohen's d > 0.78). Reaction time was less variable in the AttentionTrip than the ANT, possibly reflecting improved task engagement. Although the AttentionTrip elicited more consistent responses throughout an experimental session, anomalously low split-half reliability for its executive control network suggests that some changes may be needed.
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11. Parisot S, Ktena SI, Ferrante E, Lee M, Guerrero R, Glocker B, Rueckert D. {{Disease prediction using graph convolutional networks: Application to Autism Spectrum Disorder and Alzheimer’s disease}}. {Medical image analysis}. 2018; 48: 117-30.
Graphs are widely used as a natural framework that captures interactions between individual elements represented as nodes in a graph. In medical applications, specifically, nodes can represent individuals within a potentially large population (patients or healthy controls) accompanied by a set of features, while the graph edges incorporate associations between subjects in an intuitive manner. This representation allows to incorporate the wealth of imaging and non-imaging information as well as individual subject features simultaneously in disease classification tasks. Previous graph-based approaches for supervised or unsupervised learning in the context of disease prediction solely focus on pairwise similarities between subjects, disregarding individual characteristics and features, or rather rely on subject-specific imaging feature vectors and fail to model interactions between them. In this paper, we present a thorough evaluation of a generic framework that leverages both imaging and non-imaging information and can be used for brain analysis in large populations. This framework exploits Graph Convolutional Networks (GCNs) and involves representing populations as a sparse graph, where its nodes are associated with imaging-based feature vectors, while phenotypic information is integrated as edge weights. The extensive evaluation explores the effect of each individual component of this framework on disease prediction performance and further compares it to different baselines. The framework performance is tested on two large datasets with diverse underlying data, ABIDE and ADNI, for the prediction of Autism Spectrum Disorder and conversion to Alzheimer’s disease, respectively. Our analysis shows that our novel framework can improve over state-of-the-art results on both databases, with 70.4% classification accuracy for ABIDE and 80.0% for ADNI.
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12. Paskov KM, Wall DP. {{A Low Rank Model for Phenotype Imputation in Autism Spectrum Disorder}}. {AMIA Joint Summits on Translational Science proceedings AMIA Joint Summits on Translational Science}. 2018; 2017: 178-87.
Autism Spectrum Disorder is a highly heterogeneous condition currently diagnosed using behavioral symptoms. A better understanding of the phenotypic subtypes of autism is a necessary component of the larger goal of mapping autism genotype to phenotype. However, as with most clinical records describing human disease, the phenotypic data available for autism contains varying levels of noise and incompleteness that complicate analysis. Here we analyze behavioral data from 16,291 subjects using 250 items from three gold standard diagnostic instruments. We apply a low-rank model to impute missing entries and entire missing instruments with high fidelity, showing that we can complete clinical records for all subjects. Finally, we analyze the low-rank representation of our subjects to identify plausible subtypes of autism, setting the stage for genome-to-phenome prediction experiments. These procedures can be adapted and used with other similarly structured clinical records to enable a more complete mapping between genome and phenome.
13. Rosman NP, Abbott J, Vassar R. {{The Association of Prenatal Ultrasonography and Autism Spectrum Disorder-Reply}}. {JAMA Pediatr}. 2018.
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14. Somerset DA, Wilson RD. {{Prenatal Ultrasonography and Autism Spectrum Disorder}}. {JAMA Pediatr}. 2018.
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15. Thongnak C, Hnoonual A, Tangviriyapaiboon D, Silvilairat S, Puangpetch A, Pasomsub E, Chantratita W, Limprasert P, Sukasem C. {{Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder}}. {International journal of genomics}. 2018; 2018: 8231547.
Autism spectrum disorder (ASD) has a strong genetic basis, although the genetics of autism is complex and it is unclear. Genetic testing such as microarray or sequencing was widely used to identify autism markers, but they are unsuccessful in several cases. The objective of this study is to identify causative variants of autism in two Thai families by using whole-exome sequencing technique. Whole-exome sequencing was performed with autism-affected children from two unrelated families. Each sample was sequenced on SOLiD 5500xl Genetic Analyzer system followed by combined bioinformatics pipeline including annotation and filtering process to identify candidate variants. Candidate variants were validated, and the segregation study with other family members was performed using Sanger sequencing. This study identified a possible causative variant for ASD, c.2951G>A, in the FGD6 gene. We demonstrated the potential for ASD genetic variants associated with ASD using whole-exome sequencing and a bioinformatics filtering procedure. These techniques could be useful in identifying possible causative ASD variants, especially in cases in which variants cannot be identified by other techniques.
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16. Towle PO, Vacanti-Shova K, Higgins-D’Alessandro A, Ausikaitis A, Reynolds C. {{A Longitudinal Study of Children Diagnosed with Autism Spectrum Disorder Before Age Three: School Services at Three Points Time for Three Levels of Outcome Disability}}. {J Autism Dev Disord}. 2018.
This study follows 70 children determined to have Autism Spectrum Disorder (ASD) before age three (Time 1). Parents filled out questionnaires and standardized measures about their child when he/she was school-aged (Time 2), including information about their children’s preschool, kindergarten, and grade school educational settings. At Time 2, the researchers placed children in three diagnostic groups of No ASD, ASD-Higher Functioning, and ASD-Lower Functioning. Retrospective results showed that most children were receiving intensive services at the preschool level. In kindergarten, there was some divergence among the three groups, with more intensive services continuing for the ASD groups. At school age, classroom placement and services reflected service patterns that were consistent with these three levels of disability.
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17. Weiss JA, Fardella MA. {{Victimization and Perpetration Experiences of Adults With Autism}}. {Frontiers in psychiatry}. 2018; 9: 203.
This study aimed to describe the self-reported experiences of childhood and adult victimization and perpetration in adults with autism spectrum conditions (ASC) compared to a matched sample, and how victimization and perpetration are associated with autism-related difficulties. Forty-five adults with ASC and 42 adults without ASC completed questionnaires regarding violence victimization and perpetration, emotion regulation, and sociocommunicative competence. Participants with ASC reported experiencing, as children, more overall victimization; specifically, more property crime, maltreatment, teasing/emotional bullying, and sexual assault by peers, compared to participants without ASC. Participants with ASC also reported experiencing more teasing/emotional bullying in adulthood and greater sexual contact victimization. No significant differences were found between groups on perpetration. Sociocommunicative ability and emotion regulation deficits did not explain the heightened risk for victimization. Individuals with ASC have an increased vulnerability to violence victimization, which speaks to the need for interventions, and proactive prevention strategies.
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18. Woodard CR, Chung J. {{Feasibility of a play-based intervention set for toddlers with autism}}. {Res Dev Disabil}. 2018; 80: 24-34.
The Meta-play Method is a play-based, naturalistic set of interventions designed to decrease the symptoms associated with autism in toddlers. The purpose of the present study was to explore the feasibility of using this intervention set with a small group of toddlers and their parents. We selected seven toddlers diagnosed with autism and tested these children for autism severity and severity of repetitive behaviors. Parents were trained on the basic concepts of DBTA and the Meta-play activities. Researchers reviewed the integrity of interventions at once- or twice-monthly home visits for a six-month period, and recorded progress as rated by the parent. Activities were adapted at each visit to the interests and progress of the participating toddler. At the end of six months, autism symptoms and repetitive behavior decreased and parents reported high levels of social validity. Additional aspects of data collection and outcome measures, and suitability of interventions and procedures are discussed. While some outcomes were encouraging, a number of changes are recommended for future research.
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19. Zhu ZW, Jin Y, Wu LL, Liu XL. {{Current status and challenge in clinical work of autism spectrum disorders in China}}. {World journal of pediatrics : WJP}. 2018; 14(3): 209-11.
