1. Alexeeff SE, Yau V, Qian Y, Davignon M, Lynch F, Crawford P, Davis R, Croen LA. {{Medical Conditions in the First Years of Life Associated with Future Diagnosis of ASD in Children}}. {J Autism Dev Disord};2017 (Apr 22)
This study examines medical conditions diagnosed prior to the diagnosis of autism spectrum disorder (ASD). Using a matched case control design with 3911 ASD cases and 38,609 controls, we found that 38 out of 79 medical conditions were associated with increased ASD risk. Developmental delay, mental health, and neurology conditions had the strongest associations (ORs 2.0-23.3). Moderately strong associations were observed for nutrition, genetic, ear nose and throat, and sleep conditions (ORs 2.1-3.2). Using machine learning methods, we clustered children based on their medical conditions prior to ASD diagnosis and demonstrated ASD risk stratification. Our findings provide new evidence indicating that children with ASD have a disproportionate burden of certain medical conditions preceding ASD diagnosis.
Lien vers le texte intégral (Open Access ou abonnement)
2. Chen MH. {{Response to Comment on Chen et al. Risk of Developing Type 2 Diabetes in Adolescents and Young Adults With Autism Spectrum Disorder: A Nationwide Longitudinal Study. Diabetes Care 2016;39:788-793}}. {Diabetes Care};2017 (May);40(5):e60.
Lien vers le texte intégral (Open Access ou abonnement)
3. Diaz-Beltran L, Esteban FJ, Varma M, Ortuzk A, David M, Wall DP. {{Cross-disorder comparative analysis of comorbid conditions reveals novel autism candidate genes}}. {BMC Genomics};2017 (Apr 20);18(1):315.
BACKGROUND: Numerous studies have highlighted the elevated degree of comorbidity associated with autism spectrum disorder (ASD). These comorbid conditions may add further impairments to individuals with autism and are substantially more prevalent compared to neurotypical populations. These high rates of comorbidity are not surprising taking into account the overlap of symptoms that ASD shares with other pathologies. From a research perspective, this suggests common molecular mechanisms involved in these conditions. Therefore, identifying crucial genes in the overlap between ASD and these comorbid disorders may help unravel the common biological processes involved and, ultimately, shed some light in the understanding of autism etiology. RESULTS: In this work, we used a two-fold systems biology approach specially focused on biological processes and gene networks to conduct a comparative analysis of autism with 31 frequently comorbid disorders in order to define a multi-disorder subcomponent of ASD and predict new genes of potential relevance to ASD etiology. We validated our predictions by determining the significance of our candidate genes in high throughput transcriptome expression profiling studies. Using prior knowledge of disease-related biological processes and the interaction networks of the disorders related to autism, we identified a set of 19 genes not previously linked to ASD that were significantly differentially regulated in individuals with autism. In addition, these genes were of potential etiologic relevance to autism, given their enriched roles in neurological processes crucial for optimal brain development and function, learning and memory, cognition and social behavior. CONCLUSIONS: Taken together, our approach represents a novel perspective of autism from the point of view of related comorbid disorders and proposes a model by which prior knowledge of interaction networks may enlighten and focus the genome-wide search for autism candidate genes to better define the genetic heterogeneity of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
4. Egilson ST, Jakobsdottir G, Olafsdottir LB. {{Parent perspectives on home participation of high-functioning children with autism spectrum disorder compared with a matched group of children without autism spectrum disorder}}. {Autism};2017 (Apr 01):1362361316685555.
Few studies have focused on home participation of high-functioning children with autism spectrum disorder. We employed a mixed-methods design to explore and compare parent perspectives on (1) participation of children with and without autism spectrum disorder in activities at home, (2) the environmental features and resources that affect these children’s home participation and (3) the strategies parents use to help their children participate at home. The Participation and Environment Measure for Children and Youth (PEM-CY) was used to gather online survey and qualitative data from parents of 99 high-functioning children with autism spectrum disorder and 241 children without autism spectrum disorder. Independent sample t-tests and chi2 tests were used to explore differences between groups, and Cohen’s d was calculated to examine effect sizes. Differences were obtained on all Participation and Environment Measure for Children and Youth dimensions but particularly when comparing parents’ satisfaction and perceived environmental barriers to their children’s participation. The qualitative analyses revealed that parents in both groups used similar strategies to facilitate their children’s participation at home, although parents of children with autism spectrum disorder made use of more distinct modifications. Our results highlight the importance of environmental aspects and point to how practitioners can support families in their efforts to promote their child’s participation at home.
Lien vers le texte intégral (Open Access ou abonnement)
5. Jamison R, Bishop SL, Huerta M, Halladay AK. {{The clinician perspective on sex differences in autism spectrum disorders}}. {Autism};2017 (Apr 01):1362361316681481.
Research studies using existing samples of individuals with autism spectrum disorders have identified differences in symptoms between males and females. Differences are typically reported in school age and adolescence, with similarities in symptom presentation at earlier ages. However, existing studies on sex differences are significantly limited, making it challenging to discern if, how, and at what point in development females with autism spectrum disorder actually exhibit a different behavioral presentation than males. The purpose of this study was to gather impressions from a large group of clinicians to isolate specific areas for future study of sex differences. Clinicians were surveyed about their opinions and perceptions of symptom severity in females, as compared to males, at different points during development. They were also asked to provide open-ended responses about female symptom presentation. Consistent with previous literature, clinicians noted more sex-related differences in restricted and repetitive behaviors and fewer differences for social communication features. Differences were most commonly observed in school age and adolescence, suggesting this time period as a critical and particularly vulnerable window for females with autism spectrum disorder. The results are discussed in the context of other male/female differences across development so that more targeted investigations of autism spectrum disorder sex differences across development.
Lien vers le texte intégral (Open Access ou abonnement)
6. Jones CRG, Lambrechts A, Gaigg SB. {{Using Time Perception to Explore Implicit Sensitivity to Emotional Stimuli in Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Apr 20)
Establishing whether implicit responses to emotional cues are intact in autism spectrum disorder (ASD) is fundamental to ascertaining why their emotional understanding is compromised. We used a temporal bisection task to assess for responsiveness to face and wildlife images that varied in emotional salience. There were no significant differences between an adult ASD and comparison group, with both showing implicit overestimation of emotional stimuli. Further, there was no correlation between overestimation of emotional stimuli and autistic traits in undergraduate students. These data do not suggest a fundamental insensitivity to the arousing content of emotional images in ASD, or in individuals with a high degree of autistic traits. The findings have implications for understanding how emotional stimuli are processed in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
7. Li YJ, Li YM. {{Comment on Chen et al. Risk of Developing Type 2 Diabetes in Adolescents and Young Adults With Autism Spectrum Disorder: A Nationwide Longitudinal Study. Diabetes Care 2016;39:788-793}}. {Diabetes Care};2017 (May);40(5):e59.
Lien vers le texte intégral (Open Access ou abonnement)
8. Lim JS, Lim MY, Choi Y, Ko G. {{Modeling environmental risk factors of autism in mice induces IBD-related gut microbial dysbiosis and hyperserotonemia}}. {Mol Brain};2017 (Apr 20);10(1):14.
Autism spectrum disorder (ASD) is a range of neurodevelopmental conditions that are sharply increasing in prevalence worldwide. Intriguingly, ASD is often accompanied by an array of systemic aberrations including (1) increased serotonin, (2) various modes of gastrointestinal disorders, and (3) inflammatory bowel disease (IBD), albeit the underlying cause for such comorbidities remains uncertain. Also, accumulating number of studies report that the gut microbial composition is significantly altered in children with ASD or patients with IBD. Surprisingly, when we analyzed the gut microbiota of poly I:C and VPA-induced mouse models of ASD, we found a distinct pattern of microbial dysbiosis that highly recapitulated those reported in clinical cases of ASD and IBD. Moreover, we report that such microbial dysbiosis led to notable perturbations in microbial metabolic pathways that are known to negatively affect the host, especially with regards to the pathogenesis of ASD and IBD. Lastly, we found that serum level of serotonin is significantly increased in both poly I:C and VPA mice, and that it correlates with increases of a bacterial genus and a metabolic pathway that are implicated in stimulation of host serotonin production. Our results using animal model identify prenatal environmental risk factors of autism as possible causative agents of IBD-related gut microbial dysbiosis in ASD, and suggest a multifaceted role of gut microbiota in the systemic pathogenesis of ASD and hyperserotonemia.
Lien vers le texte intégral (Open Access ou abonnement)
9. Nayar K, Voyles AC, Kiorpes L, Di Martino A. {{Global and local visual processing in autism: An objective assessment approach}}. {Autism Res};2017 (Apr 22)
We examined global and local visual processing in autism spectrum disorder (ASD) via a match-to-sample task using Kanizsa illusory contours (KIC). School-aged children with ASD (n = 28) and age-matched typically developing controls (n = 22; 7-13 years) performed a sequential match-to-sample between a solid shape (sample) and two illusory alternatives. We tracked eye gaze and behavioral performance in two task conditions: one with and one without local interference from background noise elements. While analyses revealed lower accuracy and longer reaction time in ASD in the condition with local interference only, eye tracking robustly captured ASD-related global atypicalities across both conditions. Specifically, relative to controls, children with ASD showed decreased fixations to KIC centers, indicating reduced global perception. Notably, they did not differ from controls in regard to fixations to local elements or touch response location. These results indicate impaired global perception in the absence of heightened local processing in ASD. They also underscore the utility of eye-tracking measures as objective indices of global/local visual processing strategies in ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
10. Smith MG, Royer J, Mann J, McDermott S, Valdez R. {{Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy}}. {Orphanet J Rare Dis};2017 (Apr 21);12(1):76.
BACKGROUND: Rare conditions can be catastrophic for families and the implications for public health can be substantial. Our study compared basic surveillance through active medical record review with a linked administrative data file to assess the number of cases of two rare conditions, fragile X syndrome (FXS) and muscular dystrophy (MD) in a population. METHODS: Two methods of data collection were used to collect information from five counties comprising two standard metropolitan statistical areas of South Carolina. The passive system relied mostly on health claims data using ICD-9 CM diagnostic codes. The active system relied on a nurse abstracting records from a list of all licensed physicians with specialties in neurology, orthopedics, and genetics. RESULTS: There were 141 FXS cases and 348 MD cases that met the case definitions using active surveillance. Additional cases were found for both conditions but they were determined to not be true cases. After linking the actively collected MD and FXS cases to passive datasets, we found that the estimated total numbers of cases were similar to using capture-recapture analysis; the positive predictive values for cases identified in the passive system were 56.6% for MD and 75.7% for FXS. CONCLUSIONS: Applying capture-recapture methods to passively collected surveillance data for rare health conditions produced an estimate of the number of true cases that was similar to that obtained through active data collection.
