1. Balsters JH, Mantini D, Wenderoth N. {{Connectivity-based parcellation reveals distinct cortico-striatal connectivity fingerprints in Autism Spectrum Disorder}}. {Neuroimage};2017 (Feb 07)
Autism Spectrum Disorder (ASD) has been associated with abnormal synaptic development causing a breakdown in functional connectivity. However, when measured at the macro scale using resting state fMRI, these alterations are subtle and often difficult to detect due to the large heterogeneity of the pathology. Recently, we outlined a novel approach for generating robust biomarkers of resting state functional magnetic resonance imaging (RS-fMRI) using connectivity based parcellation of gross morphological structures to improve single-subject reproducibility and generate more robust connectivity fingerprints. Here we apply this novel approach to investigating the organization and connectivity strength of the cortico-striatal system in a large sample of ASD individuals and typically developed (TD) controls (N=130 per group). Our results showed differences in the parcellation of the striatum in ASD. Specifically, the putamen was found to be one single structure in ASD, whereas this was split into anterior and posterior segments in an age, IQ, and head movement matched TD group. An analysis of the connectivity fingerprints revealed that the group differences in clustering were driven by differential connectivity between striatum and the supplementary motor area, posterior cingulate cortex, and posterior insula. Our approach for analysing RS-fMRI in clinical populations has provided clear evidence that cortico-striatal circuits are organized differently in ASD. Based on previous task-based segmentations of the striatum, we believe that the anterior putamen cluster present in TD, but not in ASD, likely contributes to social and language processes.
Lien vers le texte intégral (Open Access ou abonnement)
2. Bitsika V, Sharpley CF, Andronicos NM, Agnew LL. {{What worries parents of a child with Autism? Evidence from a biomarker for chronic stress}}. {Res Dev Disabil};2017 (Feb 12)
BACKGROUND: Previous studies have reported correlations between various aspects of the behaviour and symptomatology of children with Autism Spectrum Disorder (ASD) and their parents’ self-reports of stress via standardised scales. AIMS: To extend that literature, a physiological index of parental chronic stress was used instead of their self-reports-dysregulation of the Diurnal Rhythm (DR) of the Hypothalamic-Pituitary-Adrenal (HPA) axis. METHODS: A sample of 149 parents of a child with ASD provided salivary cortisol at the predicted time of daily maximum cortisol concentration and at a time of daily lower concentration. Adherence to the predicted DR was assessed via a dichotomous (present/not-present) as well as a continuous measure, and MANOVA and linear regression were used to detect significant associations between ASD-related variables in their children and parents’ DR. RESULTS: Identified only a single significant correlate of DR dysregulation in both statistical procedures-Self-Injurious Behaviour (SIB) exhibited by their child and observed by the parents. CONCLUSIONS AND IMPLICATIONS: These findings extend previous data using self-report indices of parental stress and should be included in parent-support settings to alert parents to the long-term health effects of the stress they experience in regard to their child’s SIB.
Lien vers le texte intégral (Open Access ou abonnement)
3. Bolis D, Schilbach L. {{Observing and participating in social interactions: Action perception and action control across the autistic spectrum}}. {Dev Cogn Neurosci};2017 (Jan 23)
Autism is a developmental condition, characterized by difficulties of social interaction and communication, as well as restricted interests and repetitive behaviors. Although several important conceptions have shed light on specific facets, there is still no consensus about a universal yet specific theory in terms of its underlying mechanisms. While some theories have exclusively focused on sensory aspects, others have emphasized social difficulties. However, sensory and social processes in autism might be interconnected to a higher degree than what has been traditionally thought. We propose that a mismatch in sensory abilities across individuals can lead to difficulties on a social, i.e. interpersonal level and vice versa. In this article, we, therefore, selectively review evidence indicating an interrelationship between perceptual and social difficulties in autism. Additionally, we link this body of research with studies, which investigate the mechanisms of action control in social contexts. By doing so, we highlight that autistic traits are also crucially related to differences in integration, anticipation and automatic responding to social cues, rather than a mere inability to register and learn from social cues. Importantly, such differences may only manifest themselves in sufficiently complex situations, such as real-life social interactions, where such processes are inextricably linked.
Lien vers le texte intégral (Open Access ou abonnement)
4. Caron V, Berube A, Paquet A. {{Implementation evaluation of early intensive behavioral intervention programs for children with autism spectrum disorders: A systematic review of studies in the last decade}}. {Eval Program Plann};2017 (Jan 22);62:1-8.
For young children with autism spectrum disorders, one of the choice interventions is Early Intensive Behavioral Intervention. Over the past ten years, its effectiveness has been abundantly evaluated based on various parameters, including the intensity and duration of the intervention. Despite major advances in effectiveness evaluation, data concerning the implementation of the intervention are often described briefly, and the active ingredients of the intervention are but rarely linked to the documented effects. OBJECTIVES: This study aims at reviewing with a systematic method, the studies pertaining to EIBI provided to children with autism spectrum disorders over the past ten years (2005-2015) and at documenting the program implementation components described in the studies, based on Dane and Schneider’s (1998) model in accordance with PRISMA guidelines. RESULTS: The results show that, although the variables related to intervention dosage and protocol are relatively well described, the authors do not always consider them in the effects analysis. Furthermore, the majority of the studies did not report information on intervention participation, differentiation or quality. CONCLUSIONS: Data concerning the implementation of the intervention are partially described in the articles retained. In this regard, a better description of the intervention provided and a more systematic evaluation of its implementation seem necessary to detect the subtle differences in the effects of the intervention.
Lien vers le texte intégral (Open Access ou abonnement)
5. Dinalankara DM, Miles JH, Nicole Takahashi T, Yao G. {{Atypical pupillary light reflex in 2-6-year-old children with autism spectrum disorders}}. {Autism Res};2017 (Feb 11)
The purpose of this study was to investigate pupillary light reflex (PLR) in 2-6-years-old children with autism spectrum disorders (ASD). A total of 117 medication-free 2-6-year-old boys participated in this study. Sixty participants were diagnosed with ASD (the « ASD group ») and the other 57 were in the control group of typical development (the « TD group »). A questionnaire was completed by the parent/guardian for assessing potential dysfunctions in the autonomic nervous system (ANS). The base pupil radius, PLR latency, and constriction time showed a significant age-related trend in both the ASD and TD groups. The base pupil size increased with age in the typically developing children, but not in the ASD group. The ASD group showed more symptoms related to ANS dysfunctions. An association between abnormal sweating with base pupil radius and PLR constriction was observed in the TD group but not the ASD group. The different association of PLR parameters with ANS dysfunction may suggest disrupted autonomic controls in children with ASD. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
6. Haney JL, Cullen JA. {{Learning About the Lived Experiences of Women with Autism from an Online Community}}. {J Soc Work Disabil Rehabil};2017 (Jan-Mar);16(1):54-73.
The experience of being an adult female with an autism spectrum disorder (ASD) has been understudied in social work literature. The purpose of this study was to develop an understanding of females with ASD, from their perspective, by examining content from an online autism community Web site. Using a phenomenological approach, data analysis on content obtained from the forum revealed several themes about the women’s experiences concerning the diagnostic process, managing and understanding symptoms, and the impact of ASD on their personal and work relationships. Implications for social work practice, including creating more effective services for females with ASD, are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
7. Lafage R, Bess S, Glassman S, Ames C, Burton D, Hart R, Kim HJ, Klineberg E, Henry J, Line B, Scheer J, Protopsaltis T, Schwab F, Lafage V. {{Virtual Modeling of Postoperative Alignment Following Adult Spinal Deformity (ASD) Surgery Helps Predict associations between Compensatory Spinopelvic Alignment Changes, Overcorrection and Proximal Junctional Kyphosis (PJK)}}. {Spine (Phila Pa 1976)};2017 (Feb 09)
STUDY DESIGN: Retrospective review of a prospective multicenter database. OBJECTIVE: To develop a method to analyze sagittal alignment, free of PJK’s influence, and then compare PJK to non-PJK patients using this method. SUMMARY OF BACKGROUND DATA: Proximal Junctional Kyphosis (PJK) following Adult Spinal Deformity (ASD) surgery remains problematic as it alters sagittal alignment. This study proposes a novel virtual modeling technique that attempts to eliminate the confounding effects of PJK on postoperative spinal alignment. METHODS: A virtual spinal modeling technique was developed on a retrospective ASD cohort of patients with multilevel spinal fusions to the pelvis with at least 2 year post-operative follow-up. The virtual post-op alignment (VIRTUAL) was created from the post-op alignment of the instrumented segments and the pre-op alignment of the unfused segments. VIRTUAL was validated by comparisons to actual 2-year post-op alignment (REAL) in NOPJK patients. Patients were then divided into two groups: PJK and NOPJK based on the presence/absence of PJK at 2 years post-op. PJK and NOPJK patients were compared using VIRTUAL and REAL. RESULTS: 458 patients (78F, mean 57.9y) were analyzed. The validation of VIRTUAL versus REAL demonstrated correlation coefficients above 0.7 for all measures except SVA (r = 0.604). At 2-years, REAL alignment in PJK patients demonstrated a smaller PI-LL and a larger thoracic kyphosis than NOPJK patients, but similar SVA, TPA, and PT. An analysis of VIRTUAL demonstrated that PJK patients had a smaller PI-LL, PT, SVA, and TPA than NOPJK patients (p < 0.05). CONCLUSION: This technique demonstrated strong correlations with actual postoperative alignment. Comparisons between REAL and VIRTUAL alignments revealed that postoperative PJK may develop partially as a compensatory mechanism to the over-correction of sagittal deformities. Future research will evaluate the appropriate thresholds for deformity correction according to age and ASD severity. LEVEL OF EVIDENCE: 3. Lien vers le texte intégral (Open Access ou abonnement)
8. Liska A, Bertero A, Gomolka R, Sabbioni M, Galbusera A, Barsotti N, Panzeri S, Scattoni ML, Pasqualetti M, Gozzi A. {{Homozygous Loss of Autism-Risk Gene CNTNAP2 Results in Reduced Local and Long-Range Prefrontal Functional Connectivity}}. {Cereb Cortex};2017 (Feb 10):1-13.
Lien vers le texte intégral (Open Access ou abonnement)
9. Polimanti R, Gelernter J. {{Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder}}. {PLoS Genet};2017 (Feb 10);13(2):e1006618.
The human brain is the outcome of innumerable evolutionary processes; the systems genetics of psychiatric disorders could bear their signatures. On this basis, we analyzed five psychiatric disorders, attention deficit hyperactivity disorder, autism spectrum disorder (ASD), bipolar disorder, major depressive disorder, and schizophrenia (SCZ), using GWAS summary statistics from the Psychiatric Genomics Consortium. Machine learning-derived scores were used to investigate two natural-selection scenarios: complete selection (loci where a selected allele reached fixation) and incomplete selection (loci where a selected allele has not yet reached fixation). ASD GWAS results positively correlated with incomplete-selection (p = 3.53*10-4). Variants with ASD GWAS p<0.1 were shown to have a 19%-increased probability to be in the top-5% for incomplete-selection score (OR = 1.19, 95%CI = 1.11-1.8, p = 9.56*10-7). Investigating the effect directions of minor alleles, we observed an enrichment for positive associations in SNPs with ASD GWAS p<0.01 and top-5% incomplete-selection score (permutation p<10-4). Considering the set of these ASD-positive-associated variants, we observed gene-expression enrichments for brain and pituitary tissues (p = 2.3*10-5 and p = 3*10-5, respectively) and 53 gene ontology (GO) enrichments, such as nervous system development (GO:0007399, p = 7.57*10-12), synapse organization (GO:0050808, p = 8.29*10-7), and axon guidance (GO:0007411, p = 1.81*10-7). Previous genetic studies demonstrated that ASD positively correlates with childhood intelligence, college completion, and years of schooling. Accordingly, we hypothesize that certain ASD risk alleles were under positive selection during human evolution due to their involvement in neurogenesis and cognitive ability. Lien vers le texte intégral (Open Access ou abonnement)
10. Schumann CM, Sharp FR, Ander BP, Stamova B. {{Possible sexually dimorphic role of miRNA and other sncRNA in ASD brain}}. {Mol Autism};2017;8:4.
BACKGROUND: Autism spectrum disorder (ASD) is sexually dimorphic in brain structure, genetics, and behaviors. In studies of brain tissue, the age of the population is clearly a factor in interpreting study outcome, yet sex is rarely considered. To begin to address this issue, we extend our previously published microarray analyses to examine expression of small noncoding RNAs (sncRNAs), including microRNAs (miRNAs), in ASD and in the control temporal cortex in males and females. Predicted miRNA targets were identified as well as the pathways they overpopulate. FINDINGS: After considering age, sexual dimorphism in ASD sncRNA expression persists in the temporal cortex and in the patterning that distinguishes regions. Among the sexually dimorphic miRNAs are miR-219 and miR-338, which promote oligodendrocyte differentiation, miR-125, implicated in neuronal differentiation, and miR-488, implicated in anxiety. Putative miRNA targets are significantly over-represented in immune and nervous system pathways in both sexes, consistent with previous mRNA studies. Even for common pathways, the specific target mRNAs are often sexually dimorphic. For example, both male and female target genes significantly populate the Axonal Guidance Signaling pathway, yet less than a third of the targets are common to both sexes. CONCLUSIONS: Our findings of sexual dimorphism in sncRNA levels underscore the importance of considering sex, in addition to age, when interpreting molecular findings on ASD brain.
Lien vers le texte intégral (Open Access ou abonnement)
11. Skorich DP, Gash TB, Stalker KL, Zheng L, Haslam SA. {{Exploring the Cognitive Foundations of the Shared Attention Mechanism: Evidence for a Relationship Between Self-Categorization and Shared Attention Across the Autism Spectrum}}. {J Autism Dev Disord};2017 (Feb 09)
The social difficulties of autism spectrum disorder (ASD) are typically explained as a disruption in the Shared Attention Mechanism (SAM) sub-component of the theory of mind (ToM) system. In the current paper, we explore the hypothesis that SAM’s capacity to construct the self-other-object relations necessary for shared-attention arises from a self-categorization process, which is weaker among those with more autistic-like traits. We present participants with self-categorization and shared-attention tasks, and measure their autism-spectrum quotient (AQ). Results reveal a negative relationship between AQ and shared-attention, via self-categorization, suggesting a role for self-categorization in the disruption in SAM seen in ASD. Implications for intervention, and for a ToM model in which weak central coherence plays a role are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
12. Stewart LA, Lee LC. {{Screening for autism spectrum disorder in low- and middle-income countries: A systematic review}}. {Autism};2017 (Jan 01):1362361316677025.
This review contributes to the growing body of global autism spectrum disorder literature by examining the use of screening instruments in low- and middle-income countries with respect to study design and methodology, instrument adaptation and performance, and collaboration with community stakeholders in research. A systematic review was conducted to understand the use of autism spectrum disorder screening instruments in low- and middle-income countries from studies published between 1992 and 2015. This review found that 18 different autism spectrum disorder screeners have been used in low- and middle-income settings with wide ranges of sensitivities and specificities. The significant variation in study design, screening methodology, and population characteristics limits the ability of this review to make robust recommendations about optimal screening tool selection. Clinical-based screening for autism spectrum disorder was the most widely reported method. However, community-based screening was shown to be an effective method for identifying autism spectrum disorder in communities with limited clinical resources. Only a few studies included in this review reported cultural adaptation of screening tools and collaboration with local stakeholders. Establishing guidelines for the reporting of cultural adaptation and community collaboration procedures as well as screening instrument psychometrics and screening methodology will enable the field to develop best practices for autism spectrum disorder screening in low-resource settings.
Lien vers le texte intégral (Open Access ou abonnement)
13. Supekar K, Iyer T, Menon V. {{The influence of sex and age on prevalence rates of comorbid conditions in autism}}. {Autism Res};2017 (Feb 11)
Individuals with ASD frequently experience one or more comorbid conditions. Here, we investigate the influence of sex and age-two important, yet understudied factors-on ten common comorbid conditions in ASD, using cross-sectional data from 4790 individuals with ASD and 1,842,575 individuals without ASD. Epilepsy, ADHD, and CNS/cranial anomalies showed exceptionally large proportions in both male (>19%) and female (>15%), children/adolescents with ASD. Notably, these prevalence rates decreased drastically with age in both males and females. In contrast, the prevalence of schizophrenia increased with age affecting a disproportionately large number of older (>/=35 year) adult males (25%), compared to females (7.7%), with ASD. Bowel disorders showed a complex U-pattern accompanied by changes in sex disparity with age. These results highlight crucial differences between cross-sectional comorbidity patterns and their interactions with sex and age, which may aid in the development of effective sex- and age-specific diagnostic/treatment strategies for ASD and comorbid conditions. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
14. van Schalkwyk GI, Volkmar FR, Corlett PR. {{A Predictive Coding Account of Psychotic Symptoms in Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 10)
The co-occurrence of psychotic and autism spectrum disorder (ASD) symptoms represents an important clinical challenge. Here we consider this problem in the context of a computational psychiatry approach that has been applied to both conditions-predictive coding. Some symptoms of schizophrenia have been explained in terms of a failure of top-down predictions or an enhanced weighting of bottom-up prediction errors. Likewise, autism has been explained in terms of similar perturbations. We suggest that this theoretical overlap may explain overlapping symptomatology. Experimental evidence highlights meaningful distinctions and consistencies between these disorders. We hypothesize individuals with ASD may experience some degree of delusions without the presence of any additional impairment, but that hallucinations are likely indicative of a distinct process.
