1. Bhaumik R, Pradhan A, Das S, Bhaumik DK. {{Predicting Autism Spectrum Disorder Using Domain-Adaptive Cross-Site Evaluation}}. {Neuroinformatics}. 2018.
The advances in neuroimaging methods reveal that resting-state functional fMRI (rs-fMRI) connectivity measures can be potential diagnostic biomarkers for autism spectrum disorder (ASD). Recent data sharing projects help us replicating the robustness of these biomarkers in different acquisition conditions or preprocessing steps across larger numbers of individuals or sites. It is necessary to validate the previous results by using data from multiple sites by diminishing the site variations. We investigated partial least square regression (PLS), a domain adaptive method to adjust the effects of multicenter acquisition. A sparse Multivariate Pattern Analysis (MVVPA) framework in a leave one site out cross validation (LOSOCV) setting has been proposed to discriminate ASD from healthy controls using data from six sites in the Autism Brain Imaging Data Exchange (ABIDE). Classification features were obtained using 42 bilateral Brodmann areas without presupposing any prior hypothesis. Our results showed that using PLS, SVM showed poorer accuracies with highest accuracy achieved (62%) than without PLS but not significantly. The regions occurred in two or more informative connections are Dorsolateral Prefrontal Cortex, Somatosensory Association Cortex, Primary Auditory Cortex, Inferior Temporal Gyrus and Temporopolar area. These interrupted regions are involved in executive function, speech, visual perception, sense and language which are associated with ASD. Our findings may support early clinical diagnosis or risk determination by identifying neurobiological markers to distinguish between ASD and healthy controls.
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2. Boets B, Van Eylen L, Sitek K, Moors P, Noens I, Steyaert J, Sunaert S, Wagemans J. {{Alterations in the inferior longitudinal fasciculus in autism and associations with visual processing: a diffusion-weighted MRI study}}. {Mol Autism}. 2018; 9: 10.
Background: One of the most reported neural features of autism spectrum disorder (ASD) is the alteration of multiple long-range white matter fiber tracts, as assessed by diffusion-weighted imaging and indexed by reduced fractional anisotropy (FA). Recent methodological advances, however, have shown that this same pattern of reduced FA may be an artifact resulting from excessive head motion and poorer data quality and that aberrant structural connectivity in children with ASD is confined to the right inferior longitudinal fasciculus (ILF). This study aimed at replicating the observation of reduced FA along the right ILF in ASD, while controlling for group differences in head motion and data quality. In addition, we explored associations between reduced FA in the right ILF and quantitative ASD characteristics, and the involvement of the right ILF in visual processing, which is known to be altered in ASD. Method: Global probabilistic tractography was performed on diffusion-weighted imaging data of 17 adolescent boys with ASD and 17 typically developing boys, matched for age, performance IQ, handedness, and data quality. Four tasks were administered to measure various aspects of visual information processing, together with questionnaires assessing ASD characteristics. Group differences were examined and the neural data were integrated with previously published findings using Bayesian statistics to quantify evidence for replication and to pool data and thus increase statistical power. (Partial) correlations were calculated to investigate associations between measures. Results: The ASD group showed consistently reduced FA only in the right ILF and slower performance on the visual search task. Bayesian statistics pooling data across studies confirmed that group differences in FA were confined to the right ILF only, with the evidence for altered FA in the left ILF being indecisive. Lower FA in the right ILF tended to covary with slower visual search and a more fragmented part-oriented processing style. Individual differences in FA of the right ILF were not reliably associated with the severity of ASD traits after controlling for clinical status. Conclusion: Our findings support the growing evidence for reduced FA along a specific fiber tract in ASD, the right ILF.
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3. Fatemi SH, Wong DF, Brasic JR, Kuwabara H, Mathur A, Folsom TD, Jacob S, Realmuto GM, Pardo JV, Lee S. {{Metabotropic glutamate receptor 5 tracer [(18)F]-FPEB displays increased binding potential in postcentral gyrus and cerebellum of male individuals with autism: a pilot PET study}}. {Cerebellum & ataxias}. 2018; 5: 3.
Background: Autism is a neurodevelopmental disorder that is first manifested during early childhood. Postmortem experiments have identified significantly elevated expression of metabotropic glutamate receptor 5 (mGluR5) in cerebellar vermis and prefrontal cortex of individuals with autism. Methods: In the current study we employed the mGluR5 tracer [(18)F]-3-fluoro-5-[(pyridin-3-yl)ethynyl]benzonitrile ([(18)F]-FPEB) to quantify mGluR5 binding in vivo in adults with autism vs. healthy controls using positron emission tomography (PET). Results: We identified significantly higher [(18)F]-FPEB binding potential in the postcentral gyrus and cerebellum of individuals with autism. There was a significant negative correlation between age and [(18)F]-FPEB binding potential in the cerebellum but not in the postcentral gyrus. In the precuneus, [(18)F]-FPEB binding potential correlated positively with the lethargy subscale score for the Aberrant Behavioral Checklist (ABC). In cerebellum, there were significant negative correlations between [(18)F]-FPEB binding potential and ABC total score, ABC hyperactivity subscale score, and the ABC inappropriate speech subscale score. Conclusions: These novel findings demonstrate for the first time that mGluR5 binding is altered in critical brain areas of subjects with autism, suggesting abnormal glutamate signaling in these regions. Finally, the correlations between altered [(18)F]-FPEB binding potential in the cerebellum and precuneus suggest that some autistic symptoms may be influenced by abnormal glutamate signaling.
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4. Gima H, Kihara H, Watanabe H, Nakano H, Nakano J, Konishi Y, Nakamura T, Taga G. {{Early motor signs of autism spectrum disorder in spontaneous position and movement of the head}}. {Experimental brain research}. 2018.
We examined the characteristics of spontaneous movements at 9-20 weeks postterm age in very low birth-weight infants who later developed autism spectrum disorder (ASD). We analyzed video recordings of spontaneous movements of 39 children who had no clinical issues [typically developing (TD) group], 21 children who showed developmental delay, and 14 children who were diagnosed with ASD (ASD group) at 6 years of age. Head position in each video frame was classified by visual inspection. The percentage of midline head position (PMHP) and number of changes in head position were calculated. Spontaneous limb movements were quantified using six indices. The values of PMHP were significantly lower in the ASD group than in the TD group. The lower PMHP during early infancy is associated with later development of ASD. Poorer performance in maintaining midline position of the head at this period may distinguish infants who later develop ASD from those who show TD.
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5. Guisso DR, Saadeh FS, Saab D, El Deek J, Chamseddine S, Abou-El-Hassan H, Majari G, Boustany RM. {{Correction to: Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study}}. {J Autism Dev Disord}. 2018.
The original version of this article unfortunately contained a mistake. The family name of Hadi Abou El Hassan was incorrect. The correct name is Hadi Abou-El-Hassan.
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6. Karalunas SL, Hawkey E, Gustafsson H, Miller M, Langhorst M, Cordova M, Fair D, Nigg JT. {{Overlapping and Distinct Cognitive Impairments in Attention-Deficit/Hyperactivity and Autism Spectrum Disorder without Intellectual Disability}}. {Journal of abnormal child psychology}. 2018.
Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are commonly comorbid, share genetic liability, and often exhibit overlapping cognitive impairments. Clarification of shared and distinct cognitive effects while considering comorbid symptoms across disorders has been lacking. In the current study, children ages 7-15 years assigned to three diagnostic groups:ADHD (n = 509), ASD (n = 97), and controls (n = 301) completed measures spanning the cognitive domains of attention/arousal, working memory, set-shifting, inhibition, and response variability. Specific processes contributing to response variability were examined using a drift diffusion model, which separately quantified drift rate (i.e., efficiency of information processing), boundary separation (i.e., speed-accuracy trade-offs), and non-decision time. Children with ADHD and ASD were impaired on attention/arousal, processing speed, working memory, and response inhibition, but did not differ from controls on measures of delayed reward discounting, set-shifting, or interference control. Overall, impairments in the ASD group were not attributable to ADHD symptoms using either continuous symptom measures or latent categorical grouping approaches. Similarly, impairments in the ADHD group were not attributable to ASD symptoms. When specific RT parameters were considered, children with ADHD and ASD shared impairments in drift rate. However, children with ASD were uniquely characterized by a wider boundary separation. Findings suggest a combination of overlapping and unique patterns of cognitive impairment for children with ASD as compared to those with ADHD, particularly when the processes underlying reaction time measures are considered separately.
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7. Parikh C, Kurzius-Spencer M, Mastergeorge AM, Pettygrove S. {{Characterizing Health Disparities in the Age of Autism Diagnosis in a Study of 8-Year-Old Children}}. {J Autism Dev Disord}. 2018.
The diagnosis of autism spectrum disorder (ASD) is often delayed from the time of noted concerns to the actual diagnosis. The current study used child- and family-level factors to identify homogeneous classes in a surveillance-based sample (n = 2303) of 8-year-old children with ASD. Using latent class analysis, a 5-class model emerged and the class memberships were examined in relation to the child’s median age at ASD diagnosis. Class 3, with known language delays and a high advantage socioeconomically had the lowest age of ASD diagnosis (46.74 months) in comparison to Classes 1 (64.99 months), 4 (58.14 months), and 5 (69.78 months) in this sample. Findings demonstrate sociodemographic and developmental disparities related to the age at ASD diagnosis.
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8. Paynter J, Sulek R, Luskin-Saxby S, Trembath D, Keen D. {{Allied Health Professionals’ Knowledge and Use of ASD Intervention Practices}}. {J Autism Dev Disord}. 2018.
Allied health professionals (AHPs) are trusted sources of information and intervention for clients with autism spectrum disorder. However, the level of implementation of empirically-supported therapies and the accuracy of the knowledge they use to inform intervention selection is largely unknown. The present study explored the accuracy of AHPs’ knowledge and use of practices, and explored links to individual attitudes and organisational culture. Overall results from the 156 AHPs surveyed suggested general accuracy of knowledge, and use of empirically supported treatments, with accuracy linked to use. Use of practices unsupported by research was linked to organisational culture and openness to new interventions. The presence of misinformation and the impact on selection and use of effective practices are discussed.
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9. Prehn-Kristensen A, Lorenzen A, Grabe F, Baving L. {{Negative emotional face perception is diminished on a very early level of processing in autism spectrum disorder}}. {Social neuroscience}. 2018: 1-4.
Deficits in facial affect recognition (FAR) are often reported in autism spectrum disorder (ASD) due to inappropriate visual search strategies. It is unclear, however, whether or not deficits in subliminal FAR are still present in autism when visual focus is controlled. Thirteen persons with ASD and 13 healthy participants took part in this experiment. Supraliminal FAR was assessed using a standardized, computer-aided test. Subliminal FAR was obtained by an emotional face priming paradigm. By using an eye-tracking technique, it was assured that the initial visual focus was on the eyes of the prime. Persons with ASD showed worse FAR in supraliminal face recognition. Although controlled for initial gaze direction, participants also showed reduced negative face priming. These data confirm that FAR is disturbed already on a pre-attentive level in autism.
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10. Rotem RS, Chodick G, Davidovitch M, Hauser R, Coull BA, Weisskopf MG. {{Congenital Abnormalities of the Male Reproductive System and Risk of Autism Spectrum Disorders}}. {American journal of epidemiology}. 2018.
Androgens have an extensive influence on brain development in regions of the brain that are relevant for autism spectrum disorder (ASD), yet their etiological involvement remains unclear. Hypospadias (abnormal positioning of the urethral opening) and cryptorchidism (undescended testes) are 2 relatively common male birth defects that are strongly associated with prenatal androgen deficiencies. Having either disorder is a proxy indicator of atypical gestational androgen exposure, yet the association between these disorders and autism has not been extensively studied. We analyzed male singleton live births (n = 224,598) occurring from January 1, 1999, through December 31, 2013, in a large Israeli health-care organization. Boys with autism, cryptorchidism, and hypospadias were identified via International Classification of Diseases, Ninth Revision, codes, with further verification of autism case status by review of medical records. In multivariable-adjusted analyses, the odds ratio for ASD among boys with either condition was 1.62 (95% confidence interval (CI): 1.44, 1.82). The odds ratio for boys with cryptorchidism only was 1.55 (95% CI: 1.34, 1.78), and that for boys with hypospadias only was 1.65 (95% CI: 1.38, 1.98). ASD risk was not elevated among unaffected brothers of hypospadias or cryptorchidism cases, despite familial aggregation of all 3 conditions, providing some indication for the possibility of pregnancy-specific risk factors driving the observed associations. Results suggest that in-utero hypoandrogenicity could play a role in ASD etiology.
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11. Schieve LA, Shapira SK. {{Invited Commentary: Male Reproductive System Congenital Malformations and the Risk of Autism Spectrum Disorder}}. {American journal of epidemiology}. 2018.
Autism spectrum disorder (ASD) is a prevalent developmental disorder. Studies indicate that while ASD etiology has a genetic component, the risk is polygenic, with gene-environment interactions being likely. The prenatal period is a critical exposure window for nongenetic risk factors. Previous studies have found positive associations between congenital malformations (all types) and ASD; a few also found specific associations between genitourinary system malformations and ASD; and one study found an association between hypospadias and ASD. In the accompanying article, Rotem et al. (Am J Epidemiol. 2018;000(00):000-000) describe how they conducted a comprehensive analysis focusing on the shared risk of ASD with hypospadias or cryptorchidism, using existing data from a large Israeli health services system, which afforded several advantages because of the large sample size and low attrition of the patient population. The authors conducted a careful analysis, including sensitivity analyses, to account for risk factor and case misclassifications that might have occurred had they relied solely on preexisting diagnostic codes to define exposures and outcome. They observed positive associations between both hypospadias and cryptorchidism and ASD that were independent of numerous sociodemographic and pregnancy health factors. This study advances our understanding of ASD etiology and illustrates how existing data might be used to assess some ASD risk factors.
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12. Schieve LA, Tian L, Dowling N, Croen L, Hoover-Fong J, Alexander A, Shapira SK. {{Associations Between the 2nd to 4th Digit Ratio and Autism Spectrum Disorder in Population-Based Samples of Boys and Girls: Findings from the Study to Explore Early Development}}. {J Autism Dev Disord}. 2018.
The ratio of the index (2nd) finger to ring (4th) finger lengths (2D:4D) is a proxy for fetal testosterone and estradiol. Studies suggesting 2D:4D is inversely associated with autism spectrum disorder (ASD) in males were limited by lack of confounder and subgroup assessments. Studies of females are sparse. We examined associations between ASD and 2D:4D among children in the Study to Explore Early Development; we considered case subgroups and numerous potential demographic and maternal-perinatal health confounders. We observed a modest inverse association between ASD and right-hand 2D:4D in males; subgroup analyses indicated associations were limited to ASD cases with birth defects/genetic syndromes or dysmorphic features. We observed a positive association between ASD and left-hand 2D:4D in females, overall and within most case subgroups.
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13. Walls M, Broder-Fingert S, Feinberg E, Drainoni ML, Bair-Merritt M. {{Prevention and Management of Obesity in Children with Autism Spectrum Disorder Among Primary Care Pediatricians}}. {J Autism Dev Disord}. 2018.
Children with autism spectrum disorder (ASD) are at high risk for being overweight and obese. Little is known about how obesity in children with ASD is being addressed in primary care. This article reports findings from a survey completed by 327 general pediatricians, which included a fictional clinical vignette and Likert-scales assessing attitudes, practices, self-efficacy, and barriers to obesity management. Although the majority of respondents agreed pediatricians should be the main providers to manage obesity in children with ASD, few reported receiving adequate training to do so. Pediatricians were more likely to refer to developmental-behavioral pediatricians and dietitians for a child with ASD compared to a child without ASD. Higher self-efficacy was associated with increased weight-related counseling frequency by pediatricians.
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14. Zaidman-Zait A, Mirenda P, Szatmari P, Duku E, Smith IM, Vaillancourt T, Volden J, Waddell C, Bennett T, Zwaigenbaum L, Elsabaggh M, Georgiades S, Ungar WJ. {{Correction to: Profiles of Social and Coping Resources in Families of Children with Autism Spectrum Disorder: Relations to Parent and Child Outcomes}}. {J Autism Dev Disord}. 2018.
The original version of this article unfortunately contained a mistake.