1. Accardo AL, Kuder SJ, Woodruff J. {{Accommodations and support services preferred by college students with autism spectrum disorder}}. {Autism}. 2018: 1362361318760490.
This 2-year study investigated the accommodations and support services preferred by college students with autism spectrum disorder using sequential mixed methods non-experimental survey and semi-structured follow-up interviews. Students with autism spectrum disorder reported using both academic and non-academic supports with frequency (e.g. extended time on exams, transition program), using academic supports in line with other disability populations, and using non-academic supports connecting them one-to-one with a faculty member or coach as preferred (e.g. academic coach, counselor, faculty mentor). Findings suggest a need for university disability service centers, counseling services, and faculty to work together to develop systematic support systems for college students with autism spectrum disorder.
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2. Frank R, Schulze L, Hellweg R, Koehne S, Roepke S. {{Impaired detection and differentiation of briefly presented facial emotions in adults with high-functioning autism and asperger syndrome}}. {Behaviour research and therapy}. 2018; 104: 7-13.
Although deficits in the recognition of emotional facial expressions are considered a hallmark of autism spectrum disorder (ASD), characterization of abnormalities in the differentiation of emotional expressions (e.g., sad vs. angry) has been rather inconsistent, especially in adults without intellectual impairments who may compensate for their deficits. In addition, previous research neglected the ability to detect emotional expressions (e.g., angry vs. neutral). The present study used a backward masking paradigm to investigate, a) the detection of emotional expressions, and b) the differentiation of emotional expressions in adults diagnosed with high functioning autism or Asperger syndrome (n=23) compared to neurotypical controls (n=25). Compensatory strategies were prevented by shortening the stimulus presentation time (33, 67, and 100ms). In general, participants with ASD were significantly less accurate in detecting and differentiating emotional expressions compared to the control group. In the emotion differentiation task, individuals with ASD profited significantly less from an increase in presentation time. These results reinforce theoretical models that individuals with ASD have deficits in emotion recognition under time constraints. Furthermore, first evidence was provided that emotion detection and emotion differentiation are impaired in ASD.
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3. Kara T, Akaltun I, Cakmakoglu B, Kaya I, Zoroglu S. {{An Investigation of SDF1/CXCR4 Gene Polymorphisms in Autism Spectrum Disorder: A Family-Based Study}}. {Psychiatry investigation}. 2018.
Objective: Autism spectrum disorders (ASD) have a complex pathophysiology including genetic, inflammatory and neurodevelopmental components. We aim to investigate the relationship between ASD and gene polymorphisms of stromal cell-derived factor-1 (SDF-1) and its receptor CXC chemokine receptor-4 (CXCR4), which may affect inflammatory and neurodevelopmental processes. Methods: 101 children diagnosed with ASD aged 2-18 and their biological parents were included in the study. All participants were assessed using an information form and the Children were assessed using Childhood Autism Rating Scale (CARS). SDF-1 G801–>A and CXCR4 C13–>T polymorphisms were detected by genetic techniques. The results were evaluated using the transmission disequilibrium test (TDT) and haplotype relative risk (HRR). Results: Following TDT evaluation for CXCR4, the assumption of equality was not rejected (chi2=1.385, p=0.239). HRR for the C allele was 1.037 [HRR (95%CI)=0.937 (0.450-2.387), chi2=0.007, p=0.933] and HRR for the T allele was 0.965 [HRR (95%CI)=0.965 (0.419- 2.221), chi2=1.219, p=0.270], but the findings were statistically insignificant. Based on TDT evaluation for SDF1, the assumption of equality cannot be rejected (chi2=0, p=0.999). HRR for the A allele was 0.701 [HRR (95%CI)=0.701 (0.372-1.319), chi2=1.219, p=0.270] and HRR for the G allele was 1.427 [HRR (95%CI)=1.427 (0.758-2.686), chi2=1.219, p=0.270], but the findings were statistically insignificant. Conclusion: The genetic screening of blood samples from mother, father and child trios could not show a significant association between SDF1/CXCR4 genes and ASD on the basis of TDT and HRR tests. More extensive genetic studies are now needed to investigate the relationship between SDF1/CXCR4 gene polymorphisms and ASD.
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4. Karaminis T, Neil L, Manning C, Turi M, Fiorentini C, Burr D, Pellicano E. {{Reprint of « Investigating ensemble perception of emotions in autistic and typical children and adolescents »}}. {Developmental cognitive neuroscience}. 2018.
Ensemble perception, the ability to assess automatically the summary of large amounts of information presented in visual scenes, is available early in typical development. This ability might be compromised in autistic children, who are thought to present limitations in maintaining summary statistics representations for the recent history of sensory input. Here we examined ensemble perception of facial emotional expressions in 35 autistic children, 30 age- and ability-matched typical children and 25 typical adults. Participants received three tasks: a) an ‘ensemble’ emotion discrimination task; b) a baseline (single-face) emotion discrimination task; and c) a facial expression identification task. Children performed worse than adults on all three tasks. Unexpectedly, autistic and typical children were, on average, indistinguishable in their precision and accuracy on all three tasks. Computational modelling suggested that, on average, autistic and typical children used ensemble-encoding strategies to a similar extent; but ensemble perception was related to non-verbal reasoning abilities in autistic but not in typical children. Eye-movement data also showed no group differences in the way children attended to the stimuli. Our combined findings suggest that the abilities of autistic and typical children for ensemble perception of emotions are comparable on average.
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5. Mony TJ, Hong M, Lee HJ. {{Empathy Study in Rodent Model of Autism Spectrum Disorders}}. {Psychiatry investigation}. 2018; 15(2): 104-10.
There is a highly cognitive and social context to empathy behavior in human. In various social contexts, rodents also display remarkable affective sensitivity and exhibit primitive forms of empathy similar to human. Therefore, we aimed to elaborate the concept of empathy about various components of empathetic behavior in rodents with the similar contexts of a human. In this review, we highlighted the behavioral paradigm that already examined different aspects of rodent empathetic behavior in response to conspecific distress. Additionally, we summarized homologous brain parts of human and rodents to express the empathetic behavior. Integrating the findings with corresponding experiments in the human will provide a novel insight into therapeutic intervention or expanded experimental approaches for neuropsychiatric disorders like autism spectrum disorders associated with empathetic behavior.
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6. Pascolini G, Agolini E, Majore S, Novelli A, Grammatico P, Digilio MC. {{Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement}}. {European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society}. 2018.
A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene. The review of present and literature reports, suggests that the diagnosis of HVDAS should be suspected in patients with ID accompanied by behavioral features in the Autism Spectrum Disorder and distinctive craniofacial phenotype. Among dysmorphisms due to malformation of the periorbital region, ptosis appears to be particularly recurrent in HVDAS. Furthermore, the present patients could support the inclusion of the HVDAS associated with specific mutations clustering within a small ADNP genomic region among clinical conditions reminiscent of the blepharophimosis/mental retardation syndromes (BMRS).
