1. Corbett BA, Bales KL, Swain D, Sanders K, Weinstein TA, Muglia LJ. {{Comparing oxytocin and cortisol regulation in a double-blind, placebo-controlled, hydrocortisone challenge pilot study in children with autism and typical development}}. {J Neurodev Disord}. 2016; 8: 32.
BACKGROUND: Children with autism spectrum disorder (ASD) show marked impairment in social functioning and poor adaptation to new and changing contexts, which may be influenced by underlying regulatory processes. Oxytocin (OT) and cortisol are key neuromodulators of biological and behavioral responses, show a synergistic effect, and have been implicated in the neuropathological profile in ASD. However, they are rarely investigated together. The purpose of the pilot study was to evaluate the relationship between cortisol and OT in children with ASD under baseline and physiological stress (hydrocortisone challenge) conditions. Arginine vasopressin (AVP), structurally similar to OT, was also examined. METHODS: A double-blind, placebo-controlled, randomly assigned, crossover design was employed in 25 children 8-to-12 years with ASD (N = 14) or typical development (TD, N = 11). A low dose of hydrocortisone and placebo were administered via liquid suspension. Analysis of variance (ANOVA) was used to examine the within-subject factor « Condition » (hydrocortisone/placebo) and « Time » (pre and post) and the between-subject factor « Group » (ASD vs. TD). Pearson correlations examined the relationship between hormone levels and clinical profile. RESULTS: There was a significant Time x Condition x Group interaction F (1.23) = 4.18, p = 0.05 showing a rise in OT during the experimental condition (hydrocortisone) and a drop during the placebo condition for the TD group but not the ASD group. There were no group differences for AVP. Hormone levels were associated with social profiles. CONCLUSIONS: For the TD group, an inverse relationship was observed. OT increased during physiological challenge suggesting that OT played a stress-buffering role during cortisol administration. In contrast for the ASD group, OT remained unchanged or decreased during both the physiological challenge and the placebo condition, suggesting that OT failed to serve as a stress buffer under conditions of physiological stress. While OT has been tied to the social ability of children with ASD, the diminished moderating effect of OT on cortisol may also play a contributory role in the heightened stress often observed in children with ASD. These results contribute to our understanding of the growing complexity of the effects of OT on social behavior as well as the functional interplay and differential regulation OT may have on stress modulation.
Lien vers le texte intégral (Open Access ou abonnement)
2. Donaldson CK, Stauder JE, Donkers FC. {{Increased Sensory Processing Atypicalities in Parents of Multiplex ASD Families Versus Typically Developing and Simplex ASD Families}}. {J Autism Dev Disord}. 2016.
Recent studies have suggested that sensory processing atypicalities may share genetic influences with autism spectrum disorder (ASD). To further investigate this, the adolescent/adult sensory profile (AASP) questionnaire was distributed to 85 parents of typically developing children (P-TD), 121 parents from simplex ASD families (SPX), and 54 parents from multiplex ASD families (MPX). After controlling for gender and presence of mental disorders, results showed that MPX parents significantly differed from P-TD parents in all four subscales of the AASP. Differences between SPX and MPX parents reached significance in the Sensory Sensitivity subscale and also in subsequent modality-specific analyses in the auditory and visual domains. Our finding that parents with high genetic liability for ASD (i.e., MPX) had more sensory processing atypicalities than parents with low (i.e., SPX) or no (i.e., P-TD) ASD genetic liability suggests that sensory processing atypicalities may contribute to the genetic susceptibility for ASD.
Lien vers le texte intégral (Open Access ou abonnement)
3. Germani T, Zwaigenbaum L, Magill-Evans J, Hodgetts S, Ball G. {{Stakeholders’ perspectives on social participation in preschool children with Autism Spectrum Disorder}}. {Dev Neurorehabil}. 2016: 1-8.
OBJECTIVE: To determine (a) the essential components of social participation for preschool children with Autism Spectrum Disorder (ASD) using stakeholders’ perspectives and (b) the facilitators and barriers experienced in promoting social participation. METHODS: A mixed-methods, web-based survey utilizing the International Classification of Functioning, Disability and Health – Child and Youth version (ICF-CY) taxonomy was circulated across Canada through purposeful snowball sampling. RESULTS: Frequency analysis of the combined responses of 74 stakeholders revealed the most essential components of social participation were: (a) behavior management, (b) social interactions, and (c) various types of play. Further, content analysis revealed that stakeholders used intrinsic motivation strategies and contingency management to facilitate social participation. CONCLUSION: Stakeholders reported that the purpose of social participation was to engage the child in fun, enjoyable social activities that developed relationships between the child and peers and created a sense of belonging in the community.
Lien vers le texte intégral (Open Access ou abonnement)
4. Hashimoto RI, Itahashi T, Ohta H, Yamada T, Kanai C, Nakamura M, Watanabe H, Kato N. {{Altered Effects of Perspective-Taking on Functional Connectivity during Self- and Other-Referential Processing in Adults with Autism Spectrum Disorder}}. {Soc Neurosci}. 2016.
In interactive social situations, it is often crucial to be able to take another person’s perspective when evaluating one’s own or another person’s specific trait; individuals with ASD critically lack this social skill. To examine how perspective-dependent self- and other-evaluation processes modulate functional connectivity in ASD, we conducted an fMRI study in which 26 high-functioning adults with ASD and 24 typically developed (TD) controls were asked to decide whether an adjective describing a personality trait correctly described the participant himself/herself (« self ») or the participant’s mother (« other ») by taking either the first (1P) or third person (3P) perspective. We observed that functional connectivity between the left sensorimotor cortex and the left middle cingulate cortex was enhanced in TD taking the 3P perspective, this enhancement was significantly reduced in ASD, and the degree of reduction was significantly correlated with the severity of autistic traits. Furthermore, the self-reference effect on functional connectivity between the left inferior frontal cortex and frontopolar cortices was significantly enhanced in TD taking the 3P perspective, whereas such effect was reversed in ASD. These findings indicate altered effects of perspective on the functional connectivity, which may underlie the deficits in social interaction and communication observed in individuals with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
5. Hedley D, Uljarevic M, Cameron L, Halder S, Richdale A, Dissanayake C. {{Employment programmes and interventions targeting adults with autism spectrum disorder: A systematic review of the literature}}. {Autism}. 2016.
Individuals with autism spectrum disorder face significant challenges entering the workforce; yet research in this area is limited and the issues are poorly understood. In this systematic review, empirical peer-reviewed studies on employment programmes, interventions and employment-related outcomes in individuals with autism spectrum disorder over 18 years with and without intellectual disability were identified and evaluated. The review was prefaced by a summary of previous systematic reviews in the area. Web of Science, Medline, PsychINFO, ERIC and Scopus databases were systematically searched through to October 2015. From 32,829 records identified in the initial search, 10 review and 50 empirical articles, comprising N = 58,134 individuals with autism spectrum disorder, were included in the review. Selected articles were organised into the following themes: employment experiences, employment as a primary outcome, development of workplace skills, non-employment-related outcomes, assessment instruments, employer-focused and economic impact. Empirical studies were limited by poor participant characterisation, small sample size and/or a lack of randomisation and use of appropriate controls. Poor conceptualisation and measurement of outcomes significantly limited study quality and interpretation. Future research will require a multidisciplinary and multifaceted approach to explore employment outcomes on the individual, the family system, co-workers and the employer, along with the impact of individual differences on outcome.
Lien vers le texte intégral (Open Access ou abonnement)
6. Jiraanont P, Hagerman RJ, Neri G, Zollino M, Murdolo M, Tassone F. {{Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome}}. {Eur J Med Genet}. 2016.
Aberrant CGG trinucleotide amplification within the FMR1 gene, which spans approximately 38 Kb of genomic DNA is almost always what leads to fragile X syndrome (FXS). However, deletions of part or the entire FMR1 gene can also cause FXS. Both CGG amplification-induced silencing and deletions result in the absence of the FMR1 gene product, FMRP. Here, we report a rare case of germinal mosaicism of a deletion encompassing approximately 300 Kb of DNA, which by removing the entire FMR1 gene led to FXS. The male proband, carrying the deletion, presented in clinic with the typical features of FXS. His mother was analyzed by FISH on metaphase chromosomes with cosmid probe c22.3 spanning the FMR1 locus, and she was found not to carry the deletion on 30 analyzed cells from peripheral blood lymphocytes. Prenatal examination of the mother’s third pregnancy showed that the male fetus also had the same deletion as the proband. Following this prenatal diagnosis, FISH analysis in the mother was expanded to 400 metaphases from peripheral lymphocytes, and a heterozygous FMR1 deletion was found in three. Although this result could be considered questionable from a diagnostic point of view, it indicates that the deletion is in the ovary’s germinal cells.
Lien vers le texte intégral (Open Access ou abonnement)
7. Little LM, Wallisch A, Salley B, Jamison R. {{Do early caregiver concerns differ for girls with autism spectrum disorders?}}. {Autism}. 2016.
Given that early caregiver concerns may be different for children who go on to receive a diagnosis of autism spectrum disorder versus another developmental disability, early caregiver concerns may differ for girls. Using a community-based sample of children (n = 241), we examined the extent to which gender differences may be related to caregiver concerns prior to a diagnosis of autism spectrum disorder or other developmental disability. Participants were matched on chronological age, and cognitive functioning did not differ across groups. Using caregiver concern data, results showed that boys with autism spectrum disorder showed increased social interaction concerns; overall, autism spectrum disorder-related concerns did not differentiate those with autism spectrum disorder from developmental disability. Children with developmental disability, however, showed increased general developmental concerns as compared to those with autism spectrum disorder. Young girls with autism spectrum disorder may demonstrate behaviors that are not particularly salient or concerning for parents; future research may investigate the behaviors that differentiate girls with autism spectrum disorder early in development.
Lien vers le texte intégral (Open Access ou abonnement)
8. Liu L, Zhang D, Rodzinka-Pasko JK, Li YM. {{Environmental risk factors for autism spectrum disorders}}. {Nervenarzt}. 2016.
BACKGROUND: Autism spectrum disorders (ASD) are syndromes that are predominantly defined by behavioral features such as impaired social interactions, restricted verbal and nonverbal communication, and repetitive or stereotyped behavior. In the past few decades, the reported prevalence of ASD has increased dramatically. This growth can be partially explained by an increased level of awareness of the problem among professionals and better diagnostic methods. Nevertheless, underpinning causes of ASD have not yet been detailed and explained. It is suggested that rather than having a single causative factor, ASD pathogenesis is influenced by environmental or genetic factors, or a combination of both. The aims of this review are to describe the environmental risk factors associated with ASD so as to provide a reference basis for current and future clinical and experimental work. MATERIALS AND METHODS: On the basis of a PubMed search, we review the existing knowledge on environmental factors associated with ASD. RESULTS: A series of environmental factors have been repeatedly reported as risk factors for ASD in existing studies. CONCLUSION: Air pollution, organic toxicants, seasonal factors, psychological stress, migration, birth order, and nutrition may have a close relationship with the incidence of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
9. Lysaght R, Petner-Arrey J, Howell-Moneta A, Cobigo V. {{Inclusion Through Work and Productivity for Persons with Intellectual and Developmental Disabilities}}. {J Appl Res Intellect Disabil}. 2016.
BACKGROUND: Employment provides an important avenue to social inclusion for most adults. A range of productivity options exist for persons with intellectual and developmental disabilities (IDD) who wish to work, each offering unique challenges relative to inclusion. METHODS: This qualitative study examined the productivity experiences of people with intellectual and developmental disabilities in Ontario, Canada. A purposive sample of 74 individuals with productivity experiences spanning the spectrum of no employment to community-based jobs was selected from a pool of volunteers recruited through a mailed survey. Semi-structured interviews were conducted with individuals and family members. Interview transcripts were subjected to a team-based analysis using grounded theory methods. RESULTS: Varying needs and interests exist in regard to work. Participants revealed a multitude of factors contributing to inclusion and exclusion through productivity. CONCLUSIONS: Productivity, whether paid or unpaid, can be an avenue to social inclusion. The experience of inclusion, particularly of belonging, depends on a successfully negotiated congruence between worker attributes and the social features and demands of the work environment.
Lien vers le texte intégral (Open Access ou abonnement)
10. Meltzer A, Van de Water J. {{The Role of the Immune System in Autism Spectrum Disorder}}. {Neuropsychopharmacology}. 2016.
Autism is a neurodevelopmental disorder characterized by deficits in communication and social skills as well as repetitive and stereotypical behaviors. While much effort has focused on the identification of genes associated with autism, research emerging within the past two decades suggests that immune dysfunction is a viable risk factor contributing to the neurodevelopmental deficits observed in Autism Spectrum Disorders (ASD). Further, it is the heterogeneity within this disorder that has brought to light much of the current thinking regarding the subphenotypes within ASD and how the immune system is associated with these distinctions. This review will focus on the two main axes of immune involvement in ASD, namely dysfunction in the prenatal and postnatal periods. During gestation, prenatal insults including maternal infection and subsequent immunological activation may increase the risk of autism in the child. Similarly, the presence of maternally derived anti-brain autoantibodies found in approximately 20% of mothers whose children are at risk for developing autism has defined an additional subphenotype of ASD. The postnatal environment, on the other hand, is characterized by related but distinct profiles of immune dysregulation, inflammation, and endogenous autoantibodies that all persist within in the affected individual. Further definition of the role of immune dysregulation in ASD thus necessitates a deeper understanding of the interaction between both maternal and child immune systems, and the role they play in diagnosis and treatment.Neuropsychopharmacology Reviews accepted article preview online, 18 August 2016. doi:10.1038/npp.2016.158.
Lien vers le texte intégral (Open Access ou abonnement)
11. Qasem H, Al-Ayadhi L, El-Ansary A. {{Cysteinyl leukotriene correlated with 8-isoprostane levels as predictive biomarkers for sensory dysfunction in autism}}. {Lipids Health Dis}. 2016; 15: 130.
BACKGROUND: Autism is a neurodevelopmental disorder that clinically presented as cognitive deficits, social impairments and sensory dysfunction. An increasing body of evidence has shown that oxidative stress and inflammation are involved in the pathophysiology of autism. Recording biomarkers as measure of the severity of autistic features might help in understanding the pathophysiology of autism. METHODS: This study investigates the plasma levels of 8-isoprostane and Cysteinyl leukotrienes (CysLTs) in 44 autistic children and 40 healthy controls. The recruited autistic patients were assessed for behavior, cognitive and sensory deficits by using different autism severity rating scales, including the Childhood Autism Rating Scales (CARS), Social responsiveness scale (SRS) and Short Sensory Profile (SSP). Receiver Operating Characteristics analysis (ROC) of the obtained data was performed to measure the predictive value of 8-isoprostane and Cysteinyl leukotrienes (CysLTs) as oxidative stress- related parameters. Pearson’s correlations between the measured parameters was also performed. RESULTS: The concentrations of 8-isoprostane and CysLTs in autistic patients were significantly higher than those in controls. While cognitive and social impairments did not show any significant differences, the SSP results were strongly correlated with the levels of both of the biomarkers assessed. However, autistic children showed improvements in oxidative stress status (as determined by 8-isoprostane levels) at increasing ages. CONCLUSION: This study indicates that 8-isoprostane and CysLTs can be used as markers for the early recognition of autistic patients through sensory deficits phenotypes which might help early intervention.
Lien vers le texte intégral (Open Access ou abonnement)
12. Richards M, Mossey J, Robins DL. {{Parents’ Concerns as They Relate to Their Child’s Development and Later Diagnosis of Autism Spectrum Disorder}}. {J Dev Behav Pediatr}. 2016.
OBJECTIVE: Data from a toddler screening study were used to examine: (1) categories of concerns regarding the development of their child reported by parents prior to diagnostic evaluation, (2) congruence of parent concerns with their child’s later diagnosis, (3) the extent to which parent concern(s) were associated with the therapies their child received and types of specialists consulted, and (4) the association between the number of parental concern categories and clinical measures. METHOD: Toddlers who screened positive for autism spectrum disorder (ASD) during well-child checkups received a diagnostic evaluation and parents completed a history questionnaire (n = 532; 274 ASD, 258 non-ASD). Parents’ concerns about their child’s development, therapy received, and specialists consulted were coded into discrete categories. RESULTS: Most parents (>90%) reported concerns about their child’s development. The most common concern in both the ASD and non-ASD groups was speech/communication (78.6%). Significant differences were found between diagnostic groups in the speech/communication, restricted/repetitive behaviors, social, behavioral, and medical concern categories. Parent concerns were associated with therapies received and specialists consulted. The number of concern categories was positively associated with several ASD scores. CONCLUSION: The developmental concerns expressed by parents of undiagnosed toddlers were highly consistent with the diagnosis the child later received. Based in part on their areas of concern, parents made contact with the appropriate professionals and their children received some therapy prior to diagnosis. Finally, parents who reported concerns across different areas endorsed more symptoms during screening. Results emphasize the need for providers to elicit and take seriously parent concerns during the referral and diagnostic processes.
Lien vers le texte intégral (Open Access ou abonnement)
13. Rosenblau G, Kliemann D, Dziobek I, Heekeren HR. {{Emotional prosody processing in Autism Spectrum Disorder}}. {Soc Cogn Affect Neurosci}. 2016.
Individuals with Autism Spectrum Disorder (ASD) are characterized by severe deficits in social communication, whereby the nature of their impairments in emotional prosody processing have yet to be specified. Here, we investigated emotional prosody processing in individuals with ASD and controls with novel, lifelike behavioral and neuroimaging paradigms. Compared to controls, individuals with ASD showed reduced emotional prosody recognition accuracy on a behavioral task. On the neural level, individuals with ASD displayed reduced activity of the STS, insula and amygdala for complex vs. basic emotions compared to controls. Moreover, the coupling between the STS and amygdala for complex vs. basic emotions was reduced in the ASD group. Finally, groups differed with respect to the relationship between brain activity and behavioral performance. Brain activity during emotional prosody processing was more strongly related to prosody recognition accuracy in ASD participants. In contrast, the coupling between STS and anterior cingulate cortex (ACC) activity predicted behavioral task performance more strongly in the control group. These results provide evidence for aberrant emotional prosody processing of individuals with ASD. They suggest that the differences in the relationship between the neural and behavioral level of individuals with ASD may account for their observed deficits in social communication.
Lien vers le texte intégral (Open Access ou abonnement)
14. Sharpley CF, Bitsika V, Agnew LL, Andronicos NM. {{Is daily replication necessary when sampling cortisol concentrations in association studies of children with autism spectrum disorder? A systematic review and discussion paper}}. {Rev Neurosci}. 2016.
Salivary cortisol may be used as a biomarker of stress and anxiety in children with an autism spectrum disorder (ASD). Some suggestions have been made that the measurement of cortisol needs to be undertaken by repeated days’ observations to ensure reliability of the data obtained. These requirements are discussed in regard to 14 studies of the test-retest agreement and stability in cortisol data across repeated daily measurements. Results of those studies almost universally fail to support the argument for repeated daily measurements of cortisol. Implications for the research protocols of studies using cortisol as an index of stress in children with ASD are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
15. Suh J, Orinstein A, Barton M, Chen CM, Eigsti IM, Ramirez-Esparza N, Fein D. {{Ratings of Broader Autism Phenotype and Personality Traits in Optimal Outcomes from Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2016.
The study examines whether « optimal outcome » (OO) children, despite no longer meeting diagnostic criteria for Autism Spectrum Disorder (ASD), exhibit personality traits often found in those with ASD. Nine zero acquaintance raters evaluated Broader Autism Phenotype (BAP) and Big Five personality traits of 22 OO individuals, 27 high functioning individuals with ASD (HFA), and 23 typically developing (TD) peers. HFA children displayed higher ratings than their peers on all BAP traits. OO were indistinguishable from TD, with the exception of greater extraversion (e.g., increased talkativeness), a potential tendency to be less emotionally stable, and pragmatic language deficits such as getting sidetracked in conversation. Overall, OO individuals are not showing BAP characteristics, but may be subject to other mild ADHD-like characteristics.
Lien vers le texte intégral (Open Access ou abonnement)
16. Venkataraman A, Yang DY, Dvornek N, Staib LH, Duncan JS, Pelphrey KA, Ventola P. {{Pivotal response treatment prompts a functional rewiring of the brain among individuals with autism spectrum disorder}}. {Neuroreport}. 2016.
Behavioral interventions for autism have gained prominence in recent years; however, the neural-systems-level targets of these interventions remain poorly understood. We use a novel Bayesian framework to extract network-based differences before and after a 16-week pivotal response treatment (PRT) regimen. Our results suggest that the functional changes induced by PRT localize to the posterior cingulate and are marked by a shift in connectivity from the orbitofrontal cortex to the occipital-temporal cortex. Our results illuminate a potential PRT-induced learning mechanism, whereby the neural circuits involved during social perception shift from sensory and attentional systems to higher-level object and face processing areas.
