1. Adachi M, Takahashi M, Takayanagi N, Yoshida S, Yasuda S, Tanaka M, Osato-Kaneda A, Saito M, Kuribayashi M, Kato S, Nakamura K. {{Correction: Adaptation of the Autism Spectrum Screening Questionnaire (ASSQ) to preschool children}}. {PLoS One};2018;13(8):e0203254.
[This corrects the article DOI: 10.1371/journal.pone.0199590.].
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2. Ayhan F, Konopka G. {{Regulatory genes and pathways disrupted in autism spectrum disorders}}. {Prog Neuropsychopharmacol Biol Psychiatry};2018 (Aug 28);89:57-64.
Autism spectrum disorder (ASD) is a highly prevalent and complex genetic disorder. The complex genetic make-up of ASD has been extensively studied and both common and rare genetic variants in up to 1000 genes have been linked to increased ASD risk. While these studies highlight the genetic complexity and begin to provide a window for delineating pathways at risk in ASD, the pathogenicity and specific contribution of many mutations to the disorder are poorly understood. Defining the convergent pathways disrupted by this large number of ASD-associated genetic variants will help to understand disease pathogenesis and direct future therapeutic efforts for the groups of patients with distinct etiologies. Here, we review some of the common regulatory pathways including chromatin remodeling, transcription, and alternative splicing that have emerged as common features from genetic and transcriptomic profiling of ASD. For each category, we focus on one gene (CHD8, FOXP1, and RBFOX1) that is significantly linked to ASD and functionally characterized in recent years. Finally, we discuss genetic and transcriptomic overlap between ASD and other neurodevelopmental disorders.
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3. Buard I, Kronberg E, Steinmetz S, Hepburn S, Rojas DC. {{Neuromagnetic Beta-Band Oscillations during Motor Imitation in Youth with Autism}}. {Autism Res Treat};2018;2018:9035793.
Children with ASD often exhibit early difficulties with action imitation, possibly due to low-level sensory or motor impairments. Impaired cortical rhythms have been demonstrated in adults with ASD during motor imitation. While those oscillations reflect an age-dependent process, they have not been fully investigated in youth with ASD. We collected magnetoencephalography data to examine patterns of oscillatory activity in the mu (8-13 Hz) and beta frequency (15-30 Hz) range in 14 adolescents with and 14 adolescents without ASD during a fine motor imitation task. Typically developing adolescents exhibited adult-like patterns of motor signals, e.g., event-related beta and mu desynchronization (ERD) before and during the movement and a postmovement beta rebound (PMBR) after the movement. In contrast, those with ASD exhibited stronger beta and mu-ERD and reduced PMBR. Behavioral performance was similar between groups despite differences in motor cortical oscillations. Finally, we observed age-related increases in PBMR and beta-ERD in the typically developing children, but this correlation was not present in the autism group. These results suggest reduced inhibitory drive in cortical rhythms in youth with autism during intact motor imitation. Furthermore, impairments in motor brain signals in autism may not be due to delayed brain development. In the context of the excitation-inhibition imbalance perspectives of autism, we offer new insights into altered organization of neurophysiological networks.
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4. Dalrymple KA, Wall N, Spezio M, Hazlett HC, Piven J, Elison JT. {{Rapid face orienting in infants and school-age children with and without autism: Exploring measurement invariance in eye-tracking}}. {PLoS One};2018;13(8):e0202875.
Questions concerning the ontogenetic stability of autism have recently received increased attention as long-term longitudinal studies have appeared in the literature. Most experimental measures are designed for specific ages and functioning levels, yet developing experimental tasks appropriate for a wide range of ages and functioning levels is critical for future long-term longitudinal studies, and treatment studies implemented at different ages. Accordingly, we designed an eye-tracking task to measure preferential orienting to facial features and implemented it with groups of participants with varying levels of functioning: infants, and school-age children with and without autism. All groups fixated eyes first, revealing an early and stable orienting bias. This indicates common bias towards the eyes across participants regardless of age or diagnosis. We also demonstrate that this eye-tracking task can be used with diverse populations who range in age and cognitive functioning. Our developmental approach has conceptual implications for future work focused on task development and particularly new experimental measures that offer measurement equivalence across broad age ranges, intellectual functioning and verbal abilities.
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5. Esposito G, Borelli JL. {{Investigating genes, environments, and their interactions in the service of informing individualized diagnosis and treatment in developmental disabilities}}. {Res Dev Disabil};2018 (Aug 28)
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6. Ferguson J, Craig EA, Dounavi K. {{Telehealth as a Model for Providing Behaviour Analytic Interventions to Individuals with Autism Spectrum Disorder: A Systematic Review}}. {J Autism Dev Disord};2018 (Aug 28)
Interventions based on applied behaviour analysis are considered evidence based practice for autism spectrum disorders. Due to the shortage of highly qualified professionals required for their delivery, innovative models should be explored, such as telehealth. Telehealth utilises technology for remote training and supervision. The purpose of our study was to systematically review the literature researching telehealth and ABA. We analysed intervention characteristics, outcomes and research quality in 28 studies and identified gaps. Intervention characteristics were: (1) research design (2) participants (3) technology (4) dependent variables (5) aims. Outcomes were favourable with all studies reporting improvements in at least one variable. Quality ratings were significantly low. Implications for future research and practice are discussed in light of identified methodological downfalls.
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7. Franchini M, Hamodat T, Armstrong VL, Sacrey LR, Brian J, Bryson SE, Garon N, Roberts W, Zwaigenbaum L, Smith IM. {{Infants at Risk for Autism Spectrum Disorder: Frequency, Quality, and Variety of Joint Attention Behaviors}}. {J Abnorm Child Psychol};2018 (Aug 27)
Initiation of joint attention is a critical developmental function related to further social communicative development in infancy. Joint attention appears to be impaired very early in life for children with autism spectrum disorder (ASD), well before a formal diagnosis is established. To observe the early development of joint attention, we prospectively followed infant siblings at high risk for ASD (HR) and low-risk (LR) infants. Initiations of joint attention behaviors were coded with respect to frequency, quality, and variety from videos taken during the administration of the Autism Observation Schedule for Infants. Participants were further stratified based on the presence of ASD (n = 17) or language delay (n = 19) at 3 years of age. Our results revealed that initiations of joint attention are impaired from 12 months of age in both children with ASD and those with language delay, especially for use of gestures (i.e., showing and pointing). At 18 months, fewer initiations of joint attention in all three dimensions distinguished infants with ASD, compared to infants with language delay and HR and LR infants without a diagnosis. Beyond the definition of initiation of joint attention as an early sign for ASD, clinical implications of these results concern the importance of intervening on frequency, quality, and variety of joint attention as early as possible in infants at heightened risk for ASD.
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8. Gagnon K, Godbout R. {{Melatonin and Comorbidities in Children with Autism Spectrum Disorder}}. {Curr Dev Disord Rep};2018;5(3):197-206.
Purpose of Review: Melatonin is used to treat sleep difficulties associated with autism spectrum disorder (ASD). There are growing evidence that melatonin could have an effect on other symptoms than sleep, such as anxiety, depression, pain, and gastrointestinal dysfunctions. Interestingly, these symptoms frequently are found as comorbid conditions in individuals with ASD. We aimed to highlight the potential effect of melatonin on these symptoms. Recent Findings: Animal and human studies show that melatonin reduces anxiety. Regarding the effect of melatonin on pain, animal studies are promising, but results remain heterogeneous in humans. Both animal and human studies have found that melatonin can have a positive effect on gastrointestinal dysfunction. Summary: Melatonin has the potential to act on a wide variety of symptoms associated with ASD. However, other than sleep difficulties, no studies exist on melatonin as a treatment for ASD comorbid conditions. Such investigations should be on the research agenda because melatonin could improve a multitude of ASD comorbidities and, consequently, improve well-being.
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9. Gannon CE, Britton TC, Wilkinson EH, Hall SS. {{Improving social gaze behavior in fragile X syndrome using a behavioral skills training approach: a proof of concept study}}. {J Neurodev Disord};2018 (Aug 28);10(1):25.
BACKGROUND: Individuals diagnosed with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, commonly exhibit significant impairments in social gaze behavior during interactions with others. Although this behavior can restrict social development and limit educational opportunities, behavioral interventions designed to improve social gaze behavior have not been developed for this population. In this proof of concept (PoC) study, we examined whether administering a behavioral skills training package-discrete trial instruction (DTI) plus relaxation training-could increase social gaze duration in males with FXS. METHODS: As part of a larger clinical trial, 20 boys with FXS, aged 8 to 18 years, were randomized to receive DTI plus relaxation training administered at one of two prescribed doses over a 2-day period at our research center. Potential improvements in social gaze behavior were evaluated by direct observations conducted across trials during the training, and generalization effects were examined by administering a social challenge before and after the treatment. During the social challenge, social gaze behavior was recorded using an eye tracker and physiological arousal levels were simultaneously recorded by monitoring the child’s heart rate. RESULTS: Levels of social gaze behavior increased significantly across blocks of training trials for six (60%) boys who received the high-dose behavioral treatment and for three (30%) boys who received the low-dose behavioral treatment. Boys who received the high-dose treatment also showed greater improvements in social gaze behavior during the social challenge compared to boys who received the low-dose treatment. There was no effect of the treatment on physiological arousal levels recorded on the heart rate monitor at either dose. CONCLUSIONS: These results suggest that appropriate social gaze behavior can be successfully taught to boys with FXS using a standardized behavioral skills training approach. Future studies will need to evaluate whether younger children with FXS might benefit from this treatment, and/or whether more naturalistic forms of behavioral skills training might be beneficial, before social gaze avoidance becomes established in the child’s repertoire. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02616796 . Registered 30 November 2015.
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10. Keefer A, Kreiser NL, Singh V, Blakeley-Smith A, Reaven J, Vasa RA. {{Exploring Relationships Between Negative Cognitions and Anxiety Symptoms in Youth With Autism Spectrum Disorder}}. {Behav Ther};2018 (Sep);49(5):730-740.
Although cognitions are central to the conceptualization and treatment of anxiety in typically developing (TD) youth, there is scant research investigating automatic thoughts and their relationship with anxiety in youth with autism spectrum disorder (ASD). We sought to examine the types of automatic thoughts experienced by youth with ASD and co-occurring anxiety as well as the predictive relationship of anxiety to different types of automatic thoughts in 97 children, ages 8-14 years. We also explored the relationship of automatic thoughts and intolerance of uncertainty. Consistent with prior data, there was a strong relationship between anxiety and automatic thoughts pertaining to social and physical threat. Anxiety and IU were independently associated with thoughts pertaining to personal failure which raises the hypothesis that personal failure may serve as a common pathway between anxiety, IU, and depression in ASD youth. These findings highlight the importance of assessing and treating negative cognitions in youth with ASD and anxiety.
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11. Kousgaard SJ, Boldsen SK, Mohr-Jensen C, Lauritsen MB. {{The effect of having a child with ADHD or ASD on family separation}}. {Soc Psychiatry Psychiatr Epidemiol};2018 (Aug 28)
PURPOSE: The primary aim of this study was to estimate the risk of parental separation associated with having a child with ADHD or ASD when controlling for a large range of known risk factors for parental separation using Danish registries. METHODS: The study included all children with ADHD or ASD born between 1990 and 1998 in Denmark and a sex and age matched random sample of children from the background population. We followed these children and their parents from birth until the child’s 25th birthday, parental separation or December 31, 2015, whichever came first. Data were analyzed using Cox Proportional Hazard models by estimating hazard ratios (HR) and 95% confidence intervals. Models were adjusted for a range of child, parental, and family variables. RESULTS: The study included the parents of 12,916 children with ADHD, 7496 children with ASD and 18,423 controls. The study found that, even after controlling for a range of potential risk factors, having a child with either ADHD (HR = 1.8, 95% CI 1.6-2.0) or ASD (HR = 1.2, 95% CI 1.1-1.3) significantly increased parents’ risk of separating compared with non-affected families. Other factors associated with parental separation were parental imprisonment, parental psychopathology, low parental education level, low household income and living in a larger city. CONCLUSION: Parents of children diagnosed with ADHD or ASD were more likely to separate than control parents. It is important to improve our knowledge about the particular characteristics of families at risk of separating to prevent distress for the families and their child.
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12. Kupeli I, Tepe E, Kuyrukluyildiz U. {{Use of sugammadex in Rett syndrome: A case report}}. {J Dent Anesth Pain Med};2018 (Aug);18(4):261-265.
Rett syndrome (RS) is a neurodevelopmental disorder characterized by loss of cognitive, motor, and social skills, epilepsy, autistic behavior, abnormal airway patterns, gastroesophageal reflux, nutritional problems, and severe scoliosis. Although girls with RS show normal or near-normal growth until 6-8 months, they lose their skills after that. The anesthetic management of these patients requires care because of all these clinical features. Especially in the postoperative period, prolonged apnea is common and extubation is delayed. In this case report, the effect of using sugammadex was presented in a 16-year-old girl with RS. The patient’s all bimaxillary teeth and 4 wisdom teeth were extracted under general anesthesia in one session with minimal surgical trauma and moderate bleeding. Sugammadex can be a rapid and reliable agent for the reversal of the neuromuscular block in neurodegenerative patients.
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13. Naguy A, Naguy CA. {{Autism/schizophrenia spectrum disorder interface-the nosological limbo}}. {Asian J Psychiatr};2018 (Aug 16);37:78-79.
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14. Oztan O, Garner JP, Partap S, Sherr EH, Hardan AY, Farmer C, Thurm A, Swedo SE, Parker KJ. {{Cerebrospinal fluid vasopressin and symptom severity in children with autism}}. {Ann Neurol};2018 (Aug 28)
Autism is a brain disorder characterized by social impairments. Progress in understanding autism has been hindered by difficulty in obtaining brain-relevant tissues [e.g., cerebrospinal fluid (CSF)] by which to identify markers of disease and targets for treatment. Here we overcome this barrier by providing evidence that mean CSF concentration of the « social » neuropeptide arginine vasopressin (AVP) is lower in children with autism versus controls. CSF AVP concentration also significantly differentiates individual cases from controls and is associated with greater social symptom severity in children with autism. These findings indicate that AVP may be a promising CSF marker of autism’s social deficits. This article is protected by copyright. All rights reserved.
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15. Preckel K, Kanske P. {{Amygdala and oxytocin functioning as keys to understanding and treating autism: Commentary on an RDoC based approach}}. {Neurosci Biobehav Rev};2018 (Aug 24);94:45-48.
The recent review by Hennessey, Andari and Rainnie (2018) utilizes the proposed Research Domain Criteria (RDoC) to classify amygdala functions and relate them to autism symptomatology. This approach has the potential to challenge the overarching autism diagnosis by furthering our knowledge of the mechanisms giving rise to autism psychopathology and generate novel treatment options. The purpose of this commentary is to provide additional information on a number of points raised in the review. Thus, (1) we discuss the issue of amygdala and brain overgrowth in children with autism and relate it to developmental oxytocin changes, (2) examine potential mechanisms that underlie amygdala overgrowth and dysfunction of the oxytocin system, (3) zoom in on the sexually dimorphic characteristics of the amygdala and potential parallels with the oxytocin system and (4) discuss how the interplay of oxytocin and vasopressin may explain the partially inconsistent findings of their effects on amygdala functioning.
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16. Quezada A, Juarez-Ramirez R, Jimenez S, Tapia J, Villarroel R, Munoz R. {{Relations between Touch Target Size and Drag Distance in Mobile Applications for Users with Autism Spectrum Disorders}}. {J Med Syst};2018 (Aug 28);42(10):180.
In recent years, the development of mobile applications for people within the autism spectrum has proliferated to help enhance skills that could be diminished in users with this condition. However, the usability of these applications does not appear to be the focus of development because users with autism can have difficulty with fine motor skills. This article focuses on evaluating the optimal drag distance and the sizes of the interaction elements for users with Autism Spectrum Disorder. To accomplish this goal, a case study was conducted that involved 20 users with Autism Spectrum Disorder and 30 users with typical development, using a prototype generated and two applications for commercial use on 7-in. tablets. For both developed applications, a slight variation can be observed between the different groups of participants. In the interaction with Proyect@ Habilidades, the application has pictograms of 65 pixels and it has a maximum trailing distance of 340 pixels. Moreover, in Proyect@ Retratos, where there is a minimum deviation between users with levels of autism 1 and 2, it also has pictograms of 65 pixels but with a drag distance of 110 pixels. For this reason, according to the results, we suggest that in order to obtain better results in the interaction with applications aimed at users diagnosed with autism spectrum disorders, the applications should have pictograms of a range of 65 pixels with a drag interaction between 110 and 340 pixels. Considering in context a 7-in. tablet with a resolution of 1280 x 800 pixels.
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17. Roeyers H. {{Early screening instruments for autism spectrum disorder: promising, but more is needed}}. {Dev Med Child Neurol};2018 (Aug 26)
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18. Taggart L, Truesdale M, Dunkley A, House A, Russell AM. {{Health Promotion and Wellness Initiatives Targeting Chronic Disease Prevention and Management for Adults with Intellectual and Developmental Disabilities: Recent Advancements in Type 2 Diabetes}}. {Curr Dev Disord Rep};2018;5(3):132-142.
Purpose of Review: The aim of this paper was to review the recent international developments in health promotion and wellness initiatives targeting chronic disease prevention and management for adults with intellectual and developmental disabilities (IDD) targeting type 2 diabetes (T2D). Recent Findings: There has been one diabetes prevention program (STOP) and two self-management T2D education programs (DESMOND-ID; OK diabetes) adapted for this population. All three programs have been adapted from other theoretically informed and tested programs developed for the general population. Each program has employed co-design and co-production techniques with all stakeholders. The three programs all target the high-risk lifestyle factors that can lead to T2D and contribute to poor glycaemia control, and have undertaken randomized-feasibility studies, the results of which are promising. Summary: This paper shows that any health promotion and wellness initiatives need to be tailored and reasonable adjustments made in order to address this population’s cognitive impairments and communication difficulties.
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19. Thal LB, Tomlinson ID, Quinlan MA, Kovtun O, Blakely RD, Rosenthal SJ. {{Single quantum dot imaging reveals PKCbeta-dependent alterations in membrane diffusion and clustering of an ADHD/autism/bipolar disorder-associated dopamine transporter variant}}. {ACS Chem Neurosci};2018 (Aug 28)
The dopamine transporter (DAT) is a transmembrane protein that terminates dopamine signaling in the brain by driving rapid dopamine reuptake into presynaptic nerve terminals. Several lines of evidence indicate that DAT dysfunction is linked to neuropsychiatric disorders such as attention-deficit/hyperactivity disorder (ADHD), bipolar disorder (BPD), and autism spectrum disorder (ASD). Indeed, individuals with these disorders have been found to express the rare, functional DAT coding variant Val559 which confers anomalous dopamine efflux (ADE) in vitro and in vivo. To elucidate the impact of the DAT Val559 variant on membrane diffusion dynamics, we implemented our antagonist-conjugated quantum dot (QD) labeling approach to monitor the lateral mobility of single particle-labeled transporters in transfected HEK-293 and SK-N-MC cells. Our results demonstrate significantly higher diffusion coefficients of DAT Val559 compared to DAT Ala559, effects likely determined by elevated N-terminal transporter phosphorylation. We also provide pharmacological evidence that PKCbeta-mediated signaling supports enhanced DAT Val559 membrane diffusion rates. Our results are complimented with diffusion rates of phosphomimicked and phosphorylation-occluded DAT variants. Furthermore, we show DAT Val559 has a lower propensity for membrane clustering which may be caused by a mutation-derived shift out of membrane microdomains leading to faster lateral membrane diffusion rates. These findings further demonstrate a functional impact of DAT Val559 and suggest that changes in transporter localization and lateral mobility may sustain ADE and contribute to alterations in dopamine signaling underlying multiple neuropsychiatric disorders.
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20. White SW, Simmons GL, Gotham KO, Conner CM, Smith IC, Beck KB, Mazefsky CA. {{Psychosocial Treatments Targeting Anxiety and Depression in Adolescents and Adults on the Autism Spectrum: Review of the Latest Research and Recommended Future Directions}}. {Curr Psychiatry Rep};2018 (Aug 28);20(10):82.
PURPOSE OF REVIEW: This synthesis of treatment research related to anxiety and depression in adolescents and adults with autism spectrum disorder (ASD) focuses on the scientific support for various forms of psychosocial interventions, useful adaptations to standard interventions, and engagement of candidate therapeutic mechanisms. RECENT FINDINGS: There is considerable evidence for the efficacy of cognitive-behavioral therapy (CBT) to treat co-occurring problems with anxiety, but there has been relatively little research on treatment of co-occurring depression. Multiple mechanisms of treatment effect have been proposed, but there has been little demonstration of target engagement via experimental therapeutics. Comorbidity between ASD and anxiety and/or mood problems is common. Although there is evidence for the use of CBT for anxiety, little work has addressed how to effectively treat depression. There is emerging support for alternative treatment approaches, such as mindfulness-based interventions. We encourage rigorous, collaborative approaches to identify and manipulate putative mechanisms of change.
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21. Zhao XN, Usdin K. {{Timing of Expansion of Fragile X Premutation Alleles During Intergenerational Transmission in a Mouse Model of the Fragile X-Related Disorders}}. {Front Genet};2018;9:314.
Fragile X syndrome (FXS) is caused by the maternal expansion of an unstable CGG-repeat tract located in the first exon of the FMR1 gene. Further changes in repeat number occur during embryogenesis resulting in individuals sometimes being highly mosaic. Here we show in a mouse model that, in males, expansions are already present in primary spermatocytes with no additional expansions occurring in later stages of gametogenesis. We also show that, in females, expansion occurs in the post-natal oocyte. Additional expansions and a high frequency of large contractions are seen in two-cell stage embryos. Expansion in oocytes, which are non-dividing, would be consistent with a mechanism involving aberrant DNA repair or recombination rather than a problem with chromosomal replication. Given the difficulty of replicating large CGG-repeat tracts, we speculate that very large expanded alleles may be prone to contract in the mitotically proliferating spermatagonial stem cells in men. However, expanded alleles may not be under such pressure in the non-dividing oocyte. The high degree of both expansions and contractions seen in early embryos may contribute to the high frequency of somatic mosaicism that is observed in humans. Our data thus suggest an explanation for the fact that FXS is exclusively maternally transmitted and lend support to models for repeat expansion that are based on problems arising during DNA repair.
