1. Allen AA, Schlosser RW, Brock KL, Shane HC. {{The effectiveness of aided augmented input techniques for persons with developmental disabilities: a systematic review}}. {Augment Altern Commun}. 2017: 1-11.
When working with individuals with little or no functional speech, clinicians often recommend that communication partners use the client’s augmentative and alternative communication (AAC) device when speaking to the client. This is broadly known as « augmented input » and is thought to enhance the client’s learning of language form and content. The purpose of this systematic review was to determine the effects of augmented input on communication outcomes in persons with developmental disabilities and persons with childhood apraxia of speech who use aided AAC. Nineteen studies met the inclusion criteria. Each included study was reviewed in terms of participant characteristics, terminology used, symbol format, augmented input characteristics, outcomes measured, effectiveness, and study quality. Results indicate that augmented input can improve single-word vocabulary skills and expression of multi-symbol utterances; however, comprehension beyond the single word level has not been explored. Additionally, it is difficult to form conclusions about the effect of augmented input on specific diagnostic populations. Directions for future research are posited.
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2. Argott PJ, Townsend DB, Poulson CL. {{Acquisition and Generalization of Complex Empathetic Responses Among Children with Autism}}. {Behav Anal Pract}. 2017; 10(2): 107-17.
Empathy can be defined as a social interaction skill that consists of four components: (1) a statement voiced in the (2) appropriate intonation, accompanied by a (3) facial expression and (4) gesture that correspond to the affect of another individual. A multiple-baseline across response categories experimental design was used to evaluate the effectiveness of a prompt sequence (video modeling, in vivo modeling, manual and verbal prompting) and reinforcement to increase the frequency of complex empathetic responding by four children with autism. The number of complex empathetic responses increased systematically with the successive introduction of the treatment package. Additionally, generalization was demonstrated to untaught stimuli and a novel adult. Responding maintained over time to varying degrees for all participants. The data illustrate that children with autism can be taught using modeling, prompting, and reinforcement to discriminate between categories of affective stimuli and differentially respond with complex empathetic responses.
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3. Ashcroft RE. {{Multiple Autisms: Spectrums of Advocacy and Genomic Science}}. {Ann Sci}. 2017: 1-3.
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4. Bord S, Sidener TM, Reeve KF, Sidener DW. {{Teaching On-Task Rollerblading and Ice-Skating to a Child with Autism}}. {Behav Anal Pract}. 2017; 10(2): 178-82.
The present study used a multi-component intervention package to teach on-task rollerblading and ice-skating to a boy with autism. Intervention consisted of response prompts, stimulus prompts, multiple-exemplar training, and a conditioned reinforcement system. The participant learned to remain on-task while rollerblading in a circular route marked by cones for up to 26 min. Both stimulus and response generalization of skating were demonstrated in a variety of non-training settings, including ice-skating at a rink.
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5. Bralten J, van Hulzen KJ, Martens MB, Galesloot TE, Arias Vasquez A, Kiemeney LA, Buitelaar JK, Muntjewerff JW, Franke B, Poelmans G. {{Autism spectrum disorders and autistic traits share genetics and biology}}. {Mol Psychiatry}. 2017.
This corrects the article DOI: 10.1038/mp.2017.98.
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6. Dubois M, Cousin E, Chouklati K, Bruneau B, Proisy M. {{Scurvy in a 3-year-old autistic girl: Whole-body magnetic resonance imaging findings}}. {Diagn Interv Imaging}. 2017.
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7. English DL, Gounden S, Dagher RE, Chan SF, Furlonger BE, Anderson A, Moore DW. {{Effects of video modeling with video feedback on vocational skills of adults with autism spectrum disorder}}. {Dev Neurorehabil}. 2017: 1-14.
OBJECTIVE: To examine the effectiveness of a video modeling (VM) with video feedback (VFB) intervention to teach vocational gardening skills to three adults with autism spectrum disorder (ASD). METHOD: A multiple probe design across skills was used to assess the effects of the intervention on the three participants’ ability to perform skills accurately. RESULTS: The use of VM with VFB led to improvements across skills for two of the participants. The third participant required video prompting (VP) for successful skill acquisition. Skill performance generalized across personnel and settings for two of the participants, but it was not assessed for the third. Skill performance maintained at follow-up for all three participants. Social validity data gathered from participants, parents, and co-workers were positive. CONCLUSION: These findings suggest that VM with VFB and VP with VFB were effective and socially acceptable interventions for teaching vocational gardening skills to young adults with ASD.
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8. Failla MD, Peters BR, Karbasforoushan H, Foss-Feig JH, Schauder KB, Heflin BH, Cascio CJ. {{Intrainsular connectivity and somatosensory responsiveness in young children with ASD}}. {Mol Autism}. 2017; 8: 25.
BACKGROUND: The human somatosensory system comprises dissociable paths for discriminative and affective touch, reflected in separate peripheral afferent populations and distinct cortical targets. Differences in behavioral and neural responses to affective touch may have an important developmental role in early social experiences, which are relevant for autism spectrum disorder (ASD). METHODS: Using probabilistic tractography, we compared the structural integrity of white matter pathways for discriminative and affective touch in young children with ASD and their typically developing (TD) peers. We examined two tracts: (1) a tract linking the thalamus with the primary somatosensory cortex, which carries discriminative tactile information, and (2) a tract linking the posterior insula-the cortical projection target of unmyelinated tactile afferents mediating affective touch-with the anterior insula, which integrates sensory and visceral inputs to interpret emotional salience of sensory stimuli. We investigated associations between tract integrity and performance on a standardized observational assessment measuring tactile discrimination and affective responses to touch. RESULTS: Both the thalamocortical and intrainsular tracts showed reduced integrity (higher mean diffusivity) in the ASD group compared to those in the TD group. Consistent with the previous findings, the ASD group exhibited impaired tactile discriminative ability, more tactile defensiveness, and more sensory seeking (e.g., enthusiastic play or repetitive engagement with a specific tactile stimulus). There was a significant relation between intrainsular tract integrity and tactile seeking. The direction of this relation differed between groups: higher intrainsular mean diffusivity (MD) (reflecting decreased tract integrity) was associated with increased tactile seeking in the TD group but with decreased tactile seeking in the ASD group. In the TD group, decreased tactile defensiveness was also associated with higher intrainsular MD, but there was no relation in the ASD group. Discriminative touch was not significantly associated with integrity of either tract in either group. CONCLUSIONS: These results support previous findings suggesting a central role for the insula in affective response to touch. While both discriminative and affective touch and both somatosensory tracts are affected in ASD, the restriction of brain-behavior associations to the intrainsular tract and tactile seeking suggests more complex and perhaps higher-order influence on differences in tactile defensiveness and discrimination.
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9. Fluegge K. {{Environmental contributors to modulation of brain estrogen signaling and male gender bias in autism: A reply to the oral contraceptive use hypothesis by Strifert (2015)}}. {Med Hypotheses}. 2017; 104: 178-81.
Strifert has recently put forward an interesting hypothesis regarding the role of oral contraceptive (OC) use in mothers and risk of offspring autism spectrum disorder (ASD). First, the author reports that combined oral contraceptives (COCs), containing both estrogen and progesterone, were developed in the late 1950s and early 60s, which is a time-frame distinct from Leo Kanner’s documentation of infantile ASD in 1943 that Strifert just briefly mentions. While this important temporal inconsistency of ASD origin does not invalidate the potential role of OC use in contributing to the rise of ASD, it does support the likely possibility of other environmental exposures at play. Second, the epigenetic basis of the hypothesis is that the endocrine-disrupting components (i.e., ethinylestradiol) of OC perturb estrogenic signaling in the fetal brain by triggering aberrant DNA methylation of the estrogen receptor beta (ERbeta) gene, and such methylation patterns may be imprinted to future generations and could theoretically increase subsequent ASD offspring risk. The premise of the hypothesis is challenged, however, with the recognition that MeCP2, a « reader » of DNA methylation sites, is not only associated with age-dependent alteration in ERbeta in females but is also significantly reduced in ASD brain. Furthermore, Strifert does not clearly address how the OC hypothesis accounts for the male bias in ASD. Therefore, the purpose of this correspondence is to address these inconsistencies by proposing a hypothesis that challenges these points. That is, gestational exposure to the agricultural and combustion air pollutant, nitrous oxide (N2O), may be a leading contributor to the development of an ASD phenotype. The mechanism undergirding this hypothesis suggests that compensatory estrogenic activity may mitigate the effects of fetal N2O exposure and thereby confer a protective effect against ASD development in a sex-dependent manner (i.e., male bias in ASD).
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10. Foss-Feig JH, Schauder KB, Key AP, Wallace MT, Stone WL. {{Audition-specific temporal processing deficits associated with language function in children with autism spectrum disorder}}. {Autism Res}. 2017.
Sensory processing alterations are highly prevalent in autism spectrum disorder (ASD). Neurobiologically-based theories of ASD propose that abnormalities in the processing of temporal aspects of sensory input could underlie core symptoms of ASD. For example, rapid auditory temporal processing is critical for speech perception, and language difficulties are central to the social communication deficits defining the disorder. This study assessed visual and auditory temporal processing abilities and tested their relation to core ASD symptoms. 53 children (26 ASD, 27 TD) completed visual and auditory psychophysical gap detection tasks to measure gap detection thresholds (i.e., the minimum interval between sequential stimuli needed for individuals to perceive an interruption between the stimuli) in each domain. Children were also administered standardized language assessments such that the relation between individual differences in auditory gap detection thresholds and degree of language and communication difficulties among children with ASD could be assessed. Children with ASD had substantially higher auditory gap detection thresholds compared to children with TD, and auditory gap detection thresholds were correlated significantly with several measures of language processing in this population. No group differences were observed in the visual temporal processing. Results indicate a domain-specific impairment in rapid auditory temporal processing in ASD that is associated with greater difficulties in language processing. Findings provide qualified support for temporal processing theories of ASD and highlight the need for future research testing the nature, extent, and universality of auditory temporal processing deficits in this population. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Frampton SE, Robinson HC, Conine DE, Delfs CH. {{An Abbreviated Evaluation of the Efficiency of Listener and Tact Instruction for Children with Autism}}. {Behav Anal Pract}. 2017; 10(2): 131-44.
We assessed the efficiency of tact and listener training for eight participants with autism spectrum disorder. Tact and listener probes were conducted in baseline for all target sets, and then tact training was initiated with one and listener training with another. Following mastery of one set, tact and listener probes were conducted with only the sets assigned to the same modality of training (i.e., sets 1, 3, and 5 for tact; sets 2, 4, and 6 for listener). Training and probes were repeated for all sets. The measures of efficiency included the number of skills mastered through direct training, the number of skills that emerged without training, the number of trials-to-criterion, and maintenance of skills. Clinical programming based on each participant’s results is discussed. For six participants, tact training was more efficient than listener training across multiple measures. For the remaining two participants, tact training and listener training were considered equivalent.
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12. Griffiths KK, Levy RJ. {{Evidence of Mitochondrial Dysfunction in Autism: Biochemical Links, Genetic-Based Associations, and Non-Energy-Related Mechanisms}}. {Oxid Med Cell Longev}. 2017; 2017: 4314025.
Autism spectrum disorder (ASD), the fastest growing developmental disability in the United States, represents a group of neurodevelopmental disorders characterized by impaired social interaction and communication as well as restricted and repetitive behavior. The underlying cause of autism is unknown and therapy is currently limited to targeting behavioral abnormalities. Emerging studies suggest a link between mitochondrial dysfunction and ASD. Here, we review the evidence demonstrating this potential connection. We focus specifically on biochemical links, genetic-based associations, non-energy related mechanisms, and novel therapeutic strategies.
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13. Higuchi Y, Inagaki M, Koyama T, Kitamura Y, Sendo T, Fujimori M, Kataoka H, Hayashibara C, Uchitomi Y, Yamada N. {{Emotional Intelligence and its Effect on Pharmacists and Pharmacy Students with Autistic-like Traits}}. {Am J Pharm Educ}. 2017; 81(4): 74.
Objective. To measure whether Emotional intelligence (EI) would minimize the negative association between autistic-like traits (ALT) and empathic behavior and enhance the positive association between ALT and psychological distress. Methods. Our sample population included 823 hospital pharmacists belonging to a district society, and 378 pharmacy students. Analyses were performed to examine relationships between scores on the Emotional Intelligence Scale (EQS), Autism-Spectrum Quotient (AQ), Jefferson Scale of Empathy (JSE), and General Health Questionnaire-12 (GHQ). Results. Complete answers were obtained from 373 pharmacists, and 341 students. EQS partially intervened the associations between AQ and JSE and between AQ and GHQ. Conclusion. EI partially intervened the relationships between ALT and empathy, and between ALT and mental health, both of which are necessary for optimal pharmaceutical practice.
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14. Knaus TA, Burns C, Kamps J, Foundas AL. {{Atypical activation of action-semantic network in adolescents with autism spectrum disorder}}. {Brain Cogn}. 2017.
In typical adults, fMRI studies have shown activation of primary and pre-motor regions during action word processing. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication impairments. ASD studies have shown atypical semantic processing and motor deficits. The objective of this study was to examine semantic processing of verbs in ASD. 15 ASD adolescents and 19 typically developing adolescents, 11-16years, completed a semantic similarity judgment task during fMRI. There were no differences in task accuracy or reaction time. At the group level, both groups had activation in left language areas; controls, but not ASD, also had activation in the left pre-supplementary motor area (pre-SMA). In ASD, less left frontal activation and reduced left lateralization of activation within these regions was associated with shorter reaction times and better language skills. More left temporal activation was associated with better language abilities in ASD. Differences in pre-SMA activation may relate to motor planning deficits or differences in approach to the semantic task in ASD. Results suggest that left frontal language areas may be less efficient in ASD and those who can compensate by recruiting more right hemisphere homologues may result in better language abilities.
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15. Leaf JB, Leaf R, McEachin J, Taubman M, Smith T, Harris SL, Freeman BJ, Mountjoy T, Parker T, Streff T, Volkmar FR, Waks A. {{Concerns About the Registered Behavior Technician in Relation to Effective Autism Intervention}}. {Behav Anal Pract}. 2017; 10(2): 154-63.
In 2014, the Behavior Analyst Certification Board (BACB(R)) initiated a program for credentialing behavior technicians. The new credential, Registered Behavior Technician (RBT(R)), is for providers of behavioral intervention to a wide range of individuals with mental health needs and developmental delays, including individuals diagnosed with autism spectrum disorder (ASD). The RBT(R) would represent the entry-level position within the range of the BACB(R) credentials. Despite the increasing acceptance of this newest level of credential from the behavioral community, the authors of this paper have substantial concerns with the RBT(R) credential as it relates to the delivery of intervention to individuals diagnosed with ASD. The purpose of this paper is to detail these concerns and propose remedies that would ensure that individuals diagnosed with ASD receive effective behavioral intervention.
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16. Lombardo MV, Courchesne E, Lewis NE, Pramparo T. {{Hierarchical cortical transcriptome disorganization in autism}}. {Mol Autism}. 2017; 8: 29.
BACKGROUND: Autism spectrum disorders (ASD) are etiologically heterogeneous and complex. Functional genomics work has begun to identify a diverse array of dysregulated transcriptomic programs (e.g., synaptic, immune, cell cycle, DNA damage, WNT signaling, cortical patterning and differentiation) potentially involved in ASD brain abnormalities during childhood and adulthood. However, it remains unclear whether such diverse dysregulated pathways are independent of each other or instead reflect coordinated hierarchical systems-level pathology. METHODS: Two ASD cortical transcriptome datasets were re-analyzed using consensus weighted gene co-expression network analysis (WGCNA) to identify common co-expression modules across datasets. Linear mixed-effect models and Bayesian replication statistics were used to identify replicable differentially expressed modules. Eigengene network analysis was then utilized to identify between-group differences in how co-expression modules interact and cluster into hierarchical meta-modular organization. Protein-protein interaction analyses were also used to determine whether dysregulated co-expression modules show enhanced interactions. RESULTS: We find replicable evidence for 10 gene co-expression modules that are differentially expressed in ASD cortex. Rather than being independent non-interacting sources of pathology, these dysregulated co-expression modules work in synergy and physically interact at the protein level. These systems-level transcriptional signals are characterized by downregulation of synaptic processes coordinated with upregulation of immune/inflammation, response to other organism, catabolism, viral processes, translation, protein targeting and localization, cell proliferation, and vasculature development. Hierarchical organization of meta-modules (clusters of highly correlated modules) is also highly affected in ASD. CONCLUSIONS: These findings highlight that dysregulation of the ASD cortical transcriptome is characterized by the dysregulation of multiple coordinated transcriptional programs producing synergistic systems-level effects that cannot be fully appreciated by studying the individual component biological processes in isolation.
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17. Luyster RJ, Bick J, Westerlund A, Nelson CA, 3rd. {{Testing the effects of expression, intensity and age on emotional face processing in ASD}}. {Neuropsychologia}. 2017.
Individuals with autism spectrum disorder (ASD) commonly show global deficits in the processing of facial emotion, including impairments in emotion recognition and slowed processing of emotional faces. Growing evidence has suggested that these challenges may increase with age, perhaps due to minimal improvement with age in individuals with ASD. In the present study, we explored the role of age, emotion type and emotion intensity in face processing for individuals with and without ASD. Twelve- and 18-22- year-old children with and without ASD participated. No significant diagnostic group differences were observed on behavioral measures of emotion processing for younger versus older individuals with and without ASD. However, there were significant group differences in neural responses to emotional faces. Relative to TD, at 12 years of age and during adulthood, individuals with ASD showed slower N170 to emotional faces. While the TD groups’ P1 latency was significantly shorter in adults when compared to 12 year olds, there was no significant age-related difference in P1 latency among individuals with ASD. Findings point to potential differences in the maturation of cortical networks that support visual processing (whether of faces or stimuli more broadly), among individuals with and without ASD between late childhood and adulthood. Finally, associations between ERP amplitudes and behavioral responses on emotion processing tasks suggest possible neural markers for emotional and behavioral deficits among individuals with ASD.
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18. Mahic M, Che X, Susser E, Levin B, Reichborn-Kjennerud T, Magnus P, Stoltenberg C, Chauhan L, Briese T, Bresnahan M, Suren P, Hornig M, Mjaaland S, Lipkin WI. {{Epidemiological and Serological Investigation into the Role of Gestational Maternal Influenza Virus Infection and Autism Spectrum Disorders}}. {mSphere}. 2017; 2(3).
The literature concerning gestational maternal influenza virus infection and risk of autism spectrum disorders (ASD) is inconclusive. To address this uncertainty, we obtained information from questionnaires and samples from the Autism Birth Cohort, a prospective birth cohort comprising mothers, fathers, and offspring recruited in Norway in 1999 to 2008. Through questionnaires, referrals, and linkages to the Norwegian National Patient Registry, we identified 338 mothers of children with ASD and 348 frequency-matched controls for whom plasma samples that had been collected midpregnancy and after delivery were available for influenza virus serology via luciferase immunoprecipitation and hemagglutinin inhibition assays for influenza virus strains circulating during the study period. Assay data were combined to define serological status and integrated with self-reports of influenza-like illness to estimate ASD risk. Neither influenza A nor influenza B virus infection was associated with increased ASD risk. Integration of reports of symptoms of influenza-like illness with serology revealed an increase in risk for seropositive women with symptoms, but this increase did not achieve statistical significance (a level of P < 0.05) in the comparison with seronegative women without symptoms (adjusted odds ratio, 1.93; 95% confidence interval, 0.95 to 3.89; P = 0.068). Although chance may explain our findings, the magnitude of the potential association may be of biological importance, and dismissing our findings could result in failure to detect a bona fide association (type II error). If the association is true, we posit that the risk is due to activation of the maternal immune system following infection rather than direct fetal infection. Data on levels of cytokines or other mediators of inflammation would allow us to test the validity of this hypothesis. IMPORTANCE The causes of most cases of autism spectrum disorders (ASD) are unknown. Some epidemiological studies suggest that maternal gestational influenza virus infection may increase the risk of ASD in offspring. Here, we describe an analysis of a large birth cohort with results based on questionnaires that prospectively addressed subjective reports of influenza-like illness and serological assays for objective determination of influenza virus infection. Although serologic evidence of gestational influenza virus infection alone was not associated with risk, positive serology and symptoms of influenza-like illness cannot yet be definitely ruled out as a risk factor. Lien vers le texte intégral (Open Access ou abonnement)
19. McDermott JM, Pears KC, Bruce J, Kim HK, Roos L, Yoerger KL, Fisher PA. {{Improving kindergarten readiness in children with developmental disabilities: Changes in neural correlates of response monitoring}}. {Appl Neuropsychol Child}. 2017: 1-13.
Among children diagnosed with developmental delays, difficulties in self-regulation are prominent and have been linked to school readiness problems. The current study sought to examine the impact of the Kids in Transition to School (KITS) school readiness intervention program on self-regulation, with a specific focus on response monitoring skills, among children with developmental delays. Children (n = 20 in the KITS group and n = 21 in a services as usual group) were administered a flanker task during which event-related potential data were collected to examine group differences in response monitoring. Findings indicated that children in the KITS group showed significant enhancement of a neural index of response monitoring post-intervention. Specifically, the KITS group showed a significant change in the magnitude of their feedback-related negativity in response to negative performance feedback from baseline to post-intervention, whereas children in the services as usual group did not. There were no significant differences between the groups for the error-related negativity or the error-related positivity on incorrect trials nor were there group differences in behavioral performance on the task at the post-intervention assessment. Overall, these findings provide support for the plasticity of response monitoring skills in young children and support the growing literature demonstrating improved self-regulation outcomes via intervention that enhances children’s response monitoring.
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20. Meiri G, Dinstein I, Michaelowski A, Flusser H, Ilan M, Faroy M, Bar-Sinai A, Manelis L, Stolowicz D, Yosef LL, Davidovitch N, Golan H, Arbelle S, Menashe I. {{Brief Report: The Negev Hospital-University-Based (HUB) Autism Database}}. {J Autism Dev Disord}. 2017.
Elucidating the heterogeneous etiologies of autism will require investment in comprehensive longitudinal data acquisition from large community based cohorts. With this in mind, we have established a hospital-university-based (HUB) database of autism which incorporates prospective and retrospective data from a large and ethnically diverse population. The collected data includes social-demographic characteristics, standardized behavioral testing, detailed clinical history from electronic patient records, genetic samples, and various neurological measures. We describe the initial cohort characteristics following the first 18 months of data collection (188 children with autism). We believe that the Negev HUB autism database offers a unique and valuable resource for studying the heterogeneity of autism etiologies across different ethnic populations.
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21. Santosh P, Lievesley K, Fiori F, Singh J. {{Development of the Tailored Rett Intervention and Assessment Longitudinal (TRIAL) database and the Rett Evaluation of Symptoms and Treatments (REST) Questionnaire}}. {BMJ Open}. 2017; 7(6): e015342.
INTRODUCTION: Rett syndrome (RTT) is a pervasive neurodevelopmental disorder that presents with deficits in brain functioning leading to language and learning regression, characteristic hand stereotypies and developmental delay. Different mutations in the gene implicated in RTT-methyl-CpG-binding protein 2 (MECP2) establishes RTT as a disorder with divergent symptomatology ranging from individuals with severe to milder phenotypes. A reliable and single multidimensional questionnaire is needed that can embrace all symptoms, and the relationships between them, and can map clinically meaningful data to symptomatology across the lifespan in patients with RTT. As part of the HealthTracker-based Tailored Rett Intervention and Assessment Longitudinal (TRIAL) database, the Rett Evaluation of Symptoms and Treatments (REST) Questionnaire will be able to marry with the physiological aspects of the disease obtained using wearable sensor technology, along with genetic and psychosocial data to stratify patients. Taken together, the web-based TRIAL database will empower clinicians and researchers with the confidence to delineate between different aspects of disorder symptomatology to streamline care pathways for individuals or for those patients entering clinical trials. This protocol describes the anticipated development of the REST questionnaire and the TRIAL database which links with the outcomes of the wearable sensor technology, and will serve as a barometer for longitudinal patient monitoring in patients with RTT. METHODS AND ANALYSIS: The US Food and Drug Administration Guidance for Patient-Reported Outcome Measures will be used as a template to inform the methodology of the study. It will follow an iterative framework that will include item/concept identification, item/concept elicitation in parent/carer-mediated focus groups, expert clinician feedback, web-based presentation of questionnaires, initial scale development, instrument refinement and instrument validation. ETHICS AND DISSEMINATION: The study has received favourable opinion from the National Health Service (NHS) Research Ethics Committee (REC): NHS Research Ethics Committee (REC)-London, Bromley Research Ethics Committee (reference: 15/LO/1772).
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22. Stadelmaier R, Nasri H, Deutsch CK, Bauman M, Hunt A, Stodgell CJ, Adams J, Holmes LB. {{Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism}}. {Birth Defects Res}. 2017.
BACKGROUND: Valproic acid (VPA) is the most teratogenic anticonvulsant drug in clinical use today. Children exposed prenatally to VPA have previously been shown to have dysmorphic craniofacial features, identified subjectively but not by anthropometric methods. Exposure to VPA has also been associated with an increased frequency of autism spectrum disorder (ASD). An increased cephalic index (the ratio of the cranial lateral width to the cranial anterior-posterior length) has been observed in children with ASD. METHODS: Forty-seven children exposed to VPA during the first trimester of pregnancy were evaluated for dysmorphic facial features, identified subjectively and by measurements. Each VPA-exposed child was evaluated for ASD using the Social Communication Questionnaire, Autism Diagnostic Interview-Revised, and Autism Diagnostic Observation Schedule. The same physical examination was carried out on an unexposed comparison group of 126 children. The unexposed children also had testing for cognitive performance by the Wechsler Intelligence Scale for Children. RESULTS: Several dysmorphic craniofacial features, including telecanthus, wide philtrum, and increased length of the upper lip were identified subjectively. Anthropometric measurements confirmed the increased intercanthal distance and documented additional findings, including an increased cephalic index and decreased head circumference/height index. There were no differences between the craniofacial features of VPA-exposed children with and without ASD. CONCLUSION: An increased frequency of dysmorphic craniofacial features was identified in children exposed to VPA during the first trimester of pregnancy. The most consistent finding was a larger cephalic index, which indicates a disproportion of increased width of the skull relative to the shortened anterior-posterior length. Birth Defects Research, 2017.(c) 2017 Wiley Periodicals, Inc.
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23. Vermeulen K, Egger JIM, Janzing JGE, van Dongen L, van Bokhoven H, Kleefstra T, Staal WG. {{The Context of Symptom Measures: Interpretation and Clinical Diagnosis of Autism Spectrum Disorders in Intellectual Disabilities}}. {J Am Acad Child Adolesc Psychiatry}. 2017; 56(7): 618-9.
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24. Ward-Horner JC, Muehlberger AO, Vedora J, Ross RK. {{Effects of Reinforcer Magnitude and Quality on Preference for Response-Reinforcer Arrangements in Young Children with Autism}}. {Behav Anal Pract}. 2017; 10(2): 183-8.
The present study evaluated the effects of reinforcer magnitude and quality on preference for continuous and discontinuous arrangements. Two preschool children with autism spectrum disorder (ASD) participated in the study. Both participants initially preferred a discontinuous arrangement when choice options included the same quality and magnitude reinforcers; however, magnitude and quality manipulations resulted in a change in preference for continuous arrangements.
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25. Wilkes-Gillan S, Bourke-Taylor H. {{Parents of children with autism spectrum disorder had lower relationship satisfaction than parents of children without a disability with positive cognitive appraisal and social support found to be protective factors}}. {Aust Occup Ther J}. 2017; 64(3): 277-8.
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26. Wolff JJ, Jacob S, Elison JT. {{The journey to autism: Insights from neuroimaging studies of infants and toddlers}}. {Dev Psychopathol}. 2017: 1-17.
By definition, autism spectrum disorder (ASD) is a neurodevelopmental disorder that emerges during early childhood. It is during this time that infants and toddlers transition from appearing typical across multiple domains to exhibiting the behavioral phenotype of ASD. Neuroimaging studies focused on this period of development have provided crucial knowledge pertaining to this process, including possible mechanisms underlying pathogenesis of the disorder and offering the possibility of prodromal or presymptomatic prediction of risk. In this paper, we review findings from structural and functional brain imaging studies of ASD focused on the first years of life and discuss implications for next steps in research and clinical applications.
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27. Won J, Jin Y, Choi J, Park S, Lee TH, Lee SR, Chang KT, Hong Y. {{Melatonin as a Novel Interventional Candidate for Fragile X Syndrome with Autism Spectrum Disorder in Humans}}. {Int J Mol Sci}. 2017; 18(6).
Fragile X syndrome (FXS) is the most common monogenic form of autism spectrum disorder (ASD). FXS with ASD results from the loss of fragile X mental retardation (fmr) gene products, including fragile X mental retardation protein (FMRP), which triggers a variety of physiological and behavioral abnormalities. This disorder is also correlated with clock components underlying behavioral circadian rhythms and, thus, a mutation of the fmr gene can result in disturbed sleep patterns and altered circadian rhythms. As a result, FXS with ASD individuals may experience dysregulation of melatonin synthesis and alterations in melatonin-dependent signaling pathways that can impair vigilance, learning, and memory abilities, and may be linked to autistic behaviors such as abnormal anxiety responses. Although a wide variety of possible causes, symptoms, and clinical features of ASD have been studied, the correlation between altered circadian rhythms and FXS with ASD has yet to be extensively investigated. Recent studies have highlighted the impact of melatonin on the nervous, immune, and metabolic systems and, even though the utilization of melatonin for sleep dysfunctions in ASD has been considered in clinical research, future studies should investigate its neuroprotective role during the developmental period in individuals with ASD. Thus, the present review focuses on the regulatory circuits involved in the dysregulation of melatonin and disruptions in the circadian system in individuals with FXS with ASD. Additionally, the neuroprotective effects of melatonin intervention therapies, including improvements in neuroplasticity and physical capabilities, are discussed and the molecular mechanisms underlying this disorder are reviewed. The authors suggest that melatonin may be a useful treatment for FXS with ASD in terms of alleviating the adverse effects of variations in the circadian rhythm.
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28. Ye K, Iossifov I, Levy D, Yamrom B, Buja A, Krieger AM, Wigler M. {{Measuring shared variants in cohorts of discordant siblings with applications to autism}}. {Proc Natl Acad Sci U S A}. 2017; 114(27): 7073-6.
We develop a method of analysis [affected to discordant sibling pairs (A2DS)] that tests if shared variants contribute to a disorder. Using a standard measure of genetic relation, test individuals are compared with a cohort of discordant sibling pairs (CDS) to derive a comparative similarity score. We ask if a test individual is more similar to an unrelated affected than to the unrelated unaffected sibling from the CDS and then, sum over such individuals and pairs. Statistical significance is judged by randomly permuting the affected status in the CDS. In the analysis of published genotype data from the Simons Simplex Collection (SSC) and the Autism Genetic Resource Exchange (AGRE) cohorts of children with autism spectrum disorder (ASD), we find strong statistical significance that the affected are more similar to the affected than to the unaffected of the CDS (P value approximately 0.00001). Fathers in multiplex families have marginally greater similarity (P value = 0.02) to unrelated affected individuals. These results do not depend on ethnic matching or gender.
