1. Amaral CP, Simoes MA, Mouga S, Andrade J, Castelo-Branco M. {{A novel Brain Computer Interface for classification of social joint attention in autism and comparison of 3 experimental setups: A feasibility study}}. {J Neurosci Methods};2017 (Jul 29);290:105-115.
BACKGROUND: We present a novel virtual-reality P300-based Brain Computer Interface (BCI) paradigm using social cues to direct the focus of attention. We combined interactive immersive virtual-reality (VR) technology with the properties of P300 signals in a training tool which can be used in social attention disorders such as autism spectrum disorder (ASD). NEW METHOD: We tested the novel social attention training paradigm (P300-based BCI paradigm for rehabilitation of joint-attention skills) in 13 healthy participants, in 3 EEG systems. The more suitable setup was tested online with 4 ASD subjects. Statistical accuracy was assessed based on the detection of P300, using spatial filtering and a Naive-Bayes classifier. RESULTS: We compared: 1 – g.Mobilab+ (active dry-electrodes, wireless transmission); 2 – g.Nautilus (active electrodes, wireless transmission); 3 – V-Amp with actiCAP Xpress dry-electrodes. Significant statistical classification was achieved in all systems. g.Nautilus proved to be the best performing system in terms of accuracy in the detection of P300, preparation time, speed and reported comfort. Proof of concept tests in ASD participants proved that this setup is feasible for training joint attention skills in ASD. COMPARISON WITH EXISTING METHODS: This work provides a unique combination of ‘easy-to-use’ BCI systems with new technologies such as VR to train joint-attention skills in autism. CONCLUSIONS: Our P300 BCI paradigm is feasible for future Phase I/II clinical trials to train joint-attention skills, with successful classification within few trials, online in ASD participants. The g.Nautilus system is the best performing one to use with the developed BCI setup.
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2. Anderson AH, Carter M, Stephenson J. {{Perspectives of University Students with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jul 29)
Students with autism spectrum disorder (ASD) are at heightened risk of post-secondary educational failure and account for approximately 1% of students in post-secondary education. Findings from an on-line survey of students with ASD attending university in Australian are reported in this study. Respondents indicated high rates of academic and non-academic difficulties but low usage of supports. Ratings for supports were idiosyncratic, and some students indicated discomfort from using supports or disclosing their disability. Those students who delayed their disclosure accessed fewer supports and reported a poorer overall university experience. Recommendations were made including the need for better transition support and alternative strengths based approaches that use more flexible and individualised curriculum designs.
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3. Besaury L, Amato P, Sancelme M, Delort AM. {{Draft Genome Sequence of Pseudomonas syringae PDD-32b-74, a Model Strain for Ice-Nucleation Studies in the Atmosphere}}. {Genome Announc};2017 (Jul 27);5(30)
We report here the whole genome sequence of Pseudomonas syringae PDD-32b-74, a gammaproteobacterium isolated from cloud water. This microorganism is equipped with ice-nucleation protein and biosurfactant genes that could potentially be involved in physicochemical processes in the atmosphere and clouds.
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4. Bishop-Fitzpatrick L, Kind AJH. {{A Scoping Review of Health Disparities in Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jul 29)
Individuals with autism spectrum disorder (ASD) experience increased morbidity and decreased life expectancy compared to the general population, and these disparities are likely exacerbated for those individuals who are otherwise disadvantaged. We conducted a review to ascertain what is known about health and health system quality (e.g., high quality care delivery, adequate care access) disparities in ASD. Nine studies met final inclusion criteria. Seven studies identified racial disparities in access to general medical services for children with ASD. No studies examined disparities in health outcomes or included older adults. We present a model of health disparities (Fundamental Causes Model) that guides future research. Additional work should examine health disparities, and their causal pathways, in ASD, particularly for older adults.
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5. Canitano R, Bozzi Y. {{Editorial: Autism Spectrum Disorders: Developmental Trajectories, Neurobiological Basis, Treatment Update}}. {Front Psychiatry};2017;8:125.
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6. Charalsawadi C, Wirojanan J, Jaruratanasirikul S, Ruangdaraganon N, Geater A, Limprasert P. {{Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature}}. {Int J Pediatr};2017;2017:9318346.
Background. Clinical characteristics of fragile X syndrome (FXS) have been well documented in Caucasians, whereas in Asians they have rarely been described. Those that have been conducted used small cohorts that utilized DNA for diagnosis and larger cohorts that utilized cytogenetics for diagnosis. This study is to describe clinical characteristics of FXS in a large cohort of Thai patients diagnosed by standard molecular methods. Methods. Seventy-seven index cases and 46 affected relatives diagnosed with FXS were recruited into the study. To determine frequencies of common characteristics of FXS in prepubertal boys, we reviewed 56 unrelated cases aged between 18 and 146 months. To list rare medical problems, we reviewed 75 cases aged between 8 months to 71 years old, including 53 index cases and 22 affected relatives. In addition, we selected 16 clinical studies from various ethnicities for comparison with our findings. Results. In prepubertal boys with FXS, attention deficit and/or hyperactivity, prominent ears, macroorchidism, and elongated face were observed in 96%, 80%, 53%, and 48% of patients, respectively, whereas recognizable X-linked inheritance presented in 11% of patients. IQ scores ranged between 30 and 64 (mean +/- SD = 43 +/- 9, n = 25). We observed clinical findings that rarely or have never been reported, for example, medulloblastoma and tetralogy of Fallot. Conclusion. Attention deficit and/or hyperactivity and prominent ear are the most common behavioral and physical features in prepubertal boys with FXS, respectively. There are differences in frequencies of clinical characteristics observed between ethnicities; however, it is difficult to draw a solid conclusion due to different recruitment criteria and sample sizes within each study.
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7. Galvez-Contreras AY, Campos-Ordonez T, Gonzalez-Castaneda RE, Gonzalez-Perez O. {{Alterations of Growth Factors in Autism and Attention-Deficit/Hyperactivity Disorder}}. {Front Psychiatry};2017;8:126.
Growth factors (GFs) are cytokines that regulate the neural development. Recent evidence indicates that alterations in the expression level of GFs during embryogenesis are linked to the pathophysiology and clinical manifestations of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASD). In this concise review, we summarize the current evidence that supports the role of brain-derived neurotrophic factor, insulin-like growth factor 2, hepatocyte growth factor (HGF), glial-derived neurotrophic factor, nerve growth factor, neurotrophins 3 and 4, and epidermal growth factor in the pathogenesis of ADHD and ASD. We also highlight the potential use of these GFs as clinical markers for diagnosis and prognosis of these neurodevelopmental disorders.
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8. Gray WA, Billock VA. {{Developmental neurotoxicity and autism: A potential link between indoor neuroactive pollutants and the curious birth order risk factor}}. {Int J Dev Neurosci};2017 (Jul 29);62:32-36.
Epidemiological and demographic studies find an increased risk of autism among first-borns. Toxicological studies show that some semi-volatile substances found in infant products produce adverse effects in neural and endocrine systems of animals, including behavioral and developmental effects. Several factors elevate the exposure of human infants to these chemicals. The highest exposures found in infants are comparable to the exposures that induce neural toxicity in animals. A review of these literatures suggests a linking hypothesis that could bridge the epidemiological and toxicological lines of evidence: an infant’s exposure to neuroactive compounds emitted by infant products is increased by product newness and abundance; exposure is likely maximized for first-born children in families that can afford new products. Exposure is reduced for subsequently-born children who reuse these now neuroactive-depleted products. The presence of neuroactive chemical emissions from infant products has implications for birth-order effects and for other curious risk factors in autism, including gender, socioeconomic status, and season-of-birth risk factors.
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9. Kabitzke P, Brunner D, He D, Fazio PA, Cox K, Sutphen J, Thiede L, Sabath E, Hanania T, Alexandrov V, Rasmusson R, Spooren W, Ghosh A, Feliciano P, Biemans B, Benedetti M, Luo Clayton A. {{Comprehensive Analysis of Two Shank3 and the Cacna1c Mouse Models of Autism Spectrum Disorder}}. {Genes Brain Behav};2017 (Jul 28)
To expand, analyze, and extend published behavioral phenotypes relevant to autism spectrum disorder (ASD), we present a study of three ASD genetic mouse models: Feng’s Shank3tm2Gfng model, hereafter Shank3/F, Jiang’s Shank3tm1Yhj model, hereafter Shank3/J, and the Cacna1c deletion model. The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome. The current study utilizes both standard and novel behavioral tests with the same methodology used in our previously published companion report on the Cntnap2 null and 16p11.2 deletion models. We found that some but not all behaviors replicated published findings and those that did replicate, such as social behavior and overgrooming in Shank3 models, tended to be milder than reported elsewhere. The Shank3/F model, and to a much lesser extent, the Shank3/J and Cacna1c models, showed hypoactivity and a general anxiety-like behavior triggered by external stimuli which pervaded social interactions. We did not detect deficits in a cognitive procedural learning test nor did we observe perseverative behavior in these models. We did, however, find differences in exploratory patterns of Cacna1c mutant mice suggestive of a behavioral effect in a social setting. In addition, only Shank3/F showed differences in sensory-gating. Both positive and negative results from this study will be useful in identifying the most robust and replicable behavioral signatures within and across mouse models of autism. Understanding these phenotypes may shed light of which features to study when screening compounds for potential therapeutic interventions.
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10. Mandak K, Light J. {{Family-centered Services for Children with ASD and Limited Speech: The Experiences of Parents and Speech-language Pathologists}}. {J Autism Dev Disord};2017 (Jul 29)
Although family-centered services have long been discussed as essential in providing successful services to families of children with autism spectrum disorder (ASD), ideal implementation is often lacking. This study aimed to increase understanding of how families with children with ASD and limited speech receive services from speech-language pathologists (SLPs). 99 parents of children with ASD and limited speech and 211 SLPs who served children with ASD and limited speech completed questionnaires measuring their experiences with the provision of family-centered services. Findings revealed that parents and SLPs differed in their views on the degree to which family-centered services were being implemented. Clinical implications and future research directions are discussed in order to promote continued growth in the acquisition of family-centered skills.
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11. Roberts-Collins C, Mahoney-Davies G, Russell A, Booth A, Loades M. {{Emotion awareness and cognitive behavioural therapy in young people with autism spectrum disorder}}. {Autism};2017 (Jul 01):1362361317710215.
Young people with autism spectrum disorder experience high levels of emotional problems, including anxiety and depression. Adapted cognitive behavioural therapy is recommended for such difficulties. However, no evidence suggests whether emotion awareness is important in treatment outcome for young people on the autism spectrum. This study aimed to investigate the potential differences in emotion awareness between (1) young people on the autism spectrum and typically developing youth and (2) young people on the autism spectrum with and without experience of cognitive behavioural therapy. Three groups (aged 11-20 years) participated: (1) typically developing young people ( n = 56); (2) young people on the autism spectrum with no experience of cognitive behavioural therapy ( n = 23); and (3) young people on the autism spectrum who had attended cognitive behavioural therapy ( n = 33). All participants completed the Emotion Awareness Questionnaire-30 item version. Young people on the autism spectrum differed significantly from typically developing young people on the emotional awareness measure. Young people on the autism spectrum who had attended cognitive behavioural therapy scored significantly lower on the Differentiating Emotions subscale, and significantly higher on the Attending to Others’ Emotions subscale, compared to young people on the autism spectrum who had not attended cognitive behavioural therapy. This study highlights the importance of psycho-educational components of cognitive behavioural therapy when adapting for young people on the autism spectrum.
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12. Saqr Y, Braun E, Porter K, Barnette D, Hanks C. {{Addressing medical needs of adolescents and adults with autism spectrum disorders in a primary care setting}}. {Autism};2017 (Jul 01):1362361317709970.
Little has been reported about how to improve health care access and delivery for adolescents and adults with autism spectrum disorder. To understand the contributions to the health disparities in the autism spectrum disorder population, we conducted two independent research approaches to learn about current medical needs. A retrospective chart review was performed to evaluate medical comorbidities and medication use. A focus group was also created to address barriers faced in providing medical care. Of 126 charts reviewed, 49% (n = 62) had intellectual disability, 49% (n = 62) had attention-deficit hyperactivity disorder, 52% (n = 65) had anxiety, 41% (n = 52) had obesity, 31% (n = 39) with a history of aggressive behavior, 31% (n = 31) had depression, 22% (n = 28) had seizures, and 9% (n = 11) had hypertension. A Medical Regimen Complexity Index score was determined to examine medication use trends in the autism spectrum disorder population. Medical Regimen Complexity Index scores were significantly higher for patients with intellectual disability, patients with seizures, and patients with a history of aggressive behavior. Both the focus group and our pre-visit assessment identified the waiting room and waiting time as barriers to care. Understanding the comorbidities, polypharmacy, and medical barriers should provide a better understanding of the current health care access and delivery needs of adolescents and adults with autism spectrum disorder.
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13. Seymour M, Giallo R, Wood CE. {{Bio-ecological factors associated with the psychological distress of fathers of children with autism spectrum disorder: A population-based study of Australian families}}. {Autism};2017 (Jul 01):1362361317709971.
Using a bio-ecological framework, the aim of this study was to examine factors associated with psychological distress experienced by fathers of children with autism spectrum disorder from a nationally representative sample of Australian children and their families. Individual (e.g. age and self-efficacy), interpersonal (e.g. partner distress, couple relationship, child behaviour and social support) and social environmental factors (e.g. job quality and financial hardship) were explored as potential predictors of fathers’ distress. Data were drawn from the Longitudinal Study of Australian Children, where 159 fathers of children with autism spectrum disorder were identified. As comparison, 6578 fathers of children without developmental disabilities were identified. Multiple regression analyses showed that experiencing depression within the past year, job quality (e.g. autonomy and access to parental leave) and social support were significant predictors for fathers of children with autism spectrum disorder. The importance of supporting the well-being of fathers of children with autism spectrum disorder is discussed.
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14. Wade J, Weitlauf A, Broderick N, Swanson A, Zhang L, Bian D, Sarkar M, Warren Z, Sarkar N. {{A Pilot Study Assessing Performance and Visual Attention of Teenagers with ASD in a Novel Adaptive Driving Simulator}}. {J Autism Dev Disord};2017 (Jul 29)
Individuals with Autism Spectrum Disorder (ASD), compared to typically-developed peers, may demonstrate behaviors that are counter to safe driving. The current work examines the use of a novel simulator in two separate studies. Study 1 demonstrates statistically significant performance differences between individuals with (N = 7) and without ASD (N = 7) with regards to the number of turning-related driving errors (p < 0.01). Study 2 shows that both the performance-based feedback group (N = 9) and combined performance- and gaze-sensitive feedback group (N = 8) achieved statistically significant reductions in driving errors following training (p < 0.05). These studies are the first to present results of fine-grained measures of visual attention of drivers and an adaptive driving intervention for individuals with ASD. Lien vers le texte intégral (Open Access ou abonnement)
15. Wakusawa K, Nara C, Kubota Y, Tomizawa Y, Taki Y, Sassa Y, Kobayashi S, Suzuki-Muromoto S, Hirose M, Yokoyama H, Nara T, Kure S, Mori N, Takei N, Kawashima R. {{Intra-individual cognitive imbalance in ASD between perceptual reasoning and ambiguity-solving related to tool use: Comparison among children exhibiting ASD, AD/HD, and typical development}}. {Brain Dev};2017 (Jul 24)
OBJECTIVE: Several studies have suggested that objective deficits in the processing of abstract information in conjunction with an enhanced ability to process concrete information is a definitive characteristic of autism spectrum disorder (ASD). However, this cognitive imbalance is not necessarily clear in high-functioning autistic individuals who do not display absolute differences relative to typically developing (TD) populations. Thus, the purpose of this study was to identify this cognitive tendency in high-functioning autistic individuals using intra-individual cognitive comparisons. METHODS: The reaction times (RTs) of TD children, children with ASD, and children with attention deficit hyperactivity disorder (AD/HD) (n=17 in each group, mean age=11.9years, age range=9.8-15.8years) were compared using the Which/How-to-Apply Tools (W/HAT) test, which consists of tasks requiring the adaptive use of novel tools and familiar tools in atypical and typical situations. Differences in RTs between the atypical and typical trials ([A-T]) were used to assess intra-individual cognitive imbalances. RESULTS: As predicted, the [A-T] scores of the ASD group were significantly higher than those of the TD group even though the RTs in the atypical and typical trials did not differ. Additionally, the [A-T] values were significantly higher in the ASD group than in the AD/HD group, which indicates that the cognitive imbalance was specific to ASD individuals. No significant interaction was detected between the trial and subject group. CONCLUSIONS: The findings of this study demonstrate that a cognitive imbalance in ASD individuals may enhance the current understanding of the pathophysiology of this disorder, which is found in a range of individuals, including those with obvious cortical dysfunction to those with only intra-individual imbalances.
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16. Xu X, Garcia J, Ewalt R, Nason S, Pozzo-Miller L. {{The BDNF val-66-met Polymorphism Affects Neuronal Morphology and Synaptic Transmission in Cultured Hippocampal Neurons from Rett Syndrome Mice}}. {Front Cell Neurosci};2017;11:203.
Brain-derived neurotrophic factor (Bdnf) has been implicated in several neurological disorders including Rett syndrome (RTT), an X-linked neurodevelopmental disorder caused by loss-of-function mutations in the transcriptional modulator methyl-CpG-binding protein 2 (MECP2). The human BDNF gene has a single nucleotide polymorphism (SNP)-a methionine (met) substitution for valine (val) at codon 66-that affects BDNF’s trafficking and activity-dependent release and results in cognitive dysfunction. Humans that are carriers of the met-BDNF allele have subclinical memory deficits and reduced hippocampal volume and activation. It is still unclear whether this BDNF SNP affects the clinical outcome of RTT individuals. To evaluate whether this BDNF SNP contributes to RTT pathophysiology, we examined the consequences of expression of either val-BDNF or met-BDNF on dendrite and dendritic spine morphology, and synaptic function in cultured hippocampal neurons from wildtype (WT) and Mecp2 knockout (KO) mice. Our findings revealed that met-BDNF does not increase dendritic growth and branching, dendritic spine density and individual spine volume, and the number of excitatory synapses in WT neurons, as val-BDNF does. Furthermore, met-BDNF reduces dendritic complexity, dendritic spine volume and quantal excitatory synaptic transmission in Mecp2 KO neurons. These results suggest that the val-BDNF variant contributes to RTT pathophysiology, and that BDNF-based therapies should take into consideration the BDNF genotype of the RTT individuals.