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High functioning autism

Daehun Park, Unghwi Lee, Eunji Cho, Haiyan Zhao, Jung Ah Kim, Byoung Ju Lee, Philip Regan, Won-Kyung Ho, Kwangwook Cho, Sunghoe Chang
Despite being a highly enriched synaptic vesicle (SV) protein and a candidate gene for autism, the physiological function of SCAMP5 remains mostly enigmatic. Here, using optical imaging and electrophysiological experiments, we demonstrate that SCAMP5 plays a critical role in release site clearance at the active zone. Truncation analysis revealed that the 2/3 loop domain of SCAMP5 directly interacts with adaptor protein 2, and this interaction is critical for its role in release site clearance. Knockdown (KD) of SCAMP5 exhibited pronounced synaptic depression accompanied by a slower recovery of the SV pool...
March 20, 2018: Cell Reports
Dorit Kliemann, Hilary Richardson, Stefano Anzellotti, Dima Ayyash, Amanda J Haskins, John D E Gabrieli, Rebecca R Saxe
Individuals with Autism Spectrum Disorders (ASD) report difficulties extracting meaningful information from dynamic and complex social cues, like facial expressions. The nature and mechanisms of these difficulties remain unclear. Here we tested whether that difficulty can be traced to the pattern of activity in "social brain" regions, when viewing dynamic facial expressions. In two studies, adult participants (male and female) watched brief videos of a range of positive and negative facial expressions, while undergoing functional magnetic resonance imaging (Study 1: ASD n = 16, control n = 21; Study 2: ASD n = 22, control n = 30)...
February 21, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
Madeline Williams, Smrithi Prem, Xiaofeng Zhou, Paul Matteson, Percy Luk Yeung, Chi-Wei Lu, Zhiping Pang, Linda Brzustowicz, James H Millonig, Emanuel Dicicco-Bloom
Human brain development proceeds through a series of precisely orchestrated processes, with earlier stages distinguished by proliferation, migration, and neurite outgrowth; and later stages characterized by axon/dendrite outgrowth and synapse formation. In neurodevelopmental disorders, often one or more of these processes are disrupted, leading to abnormalities in brain formation and function. With the advent of human induced pluripotent stem cell (hiPSC) technology, researchers now have an abundant supply of human cells that can be differentiated into virtually any cell type, including neurons...
March 2, 2018: Journal of Visualized Experiments: JoVE
Miyuru Chandradasa, Shehan Williams
The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first report of Langer-Giedion Syndrome with autism and the first report of the genetic syndrome from Sri Lanka...
March 13, 2018: Psychiatric Genetics
Luye Qin, Kaijie Ma, Zi-Jun Wang, Zihua Hu, Emmanuel Matas, Jing Wei, Zhen Yan
Haploinsufficiency of the SHANK3 gene is causally linked to autism spectrum disorder (ASD), and ASD-associated genes are also enriched for chromatin remodelers. Here we found that brief treatment with romidepsin, a highly potent class I histone deacetylase (HDAC) inhibitor, alleviated social deficits in Shank3-deficient mice, which persisted for ~3 weeks. HDAC2 transcription was upregulated in these mice, and knockdown of HDAC2 in prefrontal cortex also rescued their social deficits. Nuclear localization of β-catenin, a Shank3-binding protein that regulates cell adhesion and transcription, was increased in Shank3-deficient mice, which induced HDAC2 upregulation and social deficits...
March 12, 2018: Nature Neuroscience
Martin Picard, Aric A Prather, Eli Puterman, Alexanne Cuillerier, Michael Coccia, Kirstin Aschbacher, Yan Burelle, Elissa S Epel
BACKGROUND: Chronic life stress, such as the stress of caregiving, can promote pathophysiology, but the underlying cellular mechanisms are not well understood. Chronic stress may induce recalibrations in mitochondria leading to changes either in mitochondrial content per cell, or in mitochondrial functional capacity (i.e., quality). METHODS: Here we present a functional index of mitochondrial health (MHI) for human leukocytes that can distinguish between these two possibilities...
February 3, 2018: Biological Psychiatry
Y J Daniel Yang, Tandra Allen, Sebiha M Abdullahi, Kevin A Pelphrey, Fred R Volkmar, Sandra B Chapman
Measuring treatment efficacy in individuals with Autism Spectrum Disorder (ASD) relies primarily on behaviors, with limited evidence as to the neural mechanisms underlying these behavioral gains. This pilot study addresses this void by investigating neural and behavioral changes in a Phase I trial in young adults with high-functioning ASD who received an evidence-based behavioral intervention, Virtual Reality-Social Cognition Training over 5 weeks for a total of 10 hr. The participants were tested pre- and post-training with a validated biological/social versus scrambled/nonsocial motion neuroimaging task, previously shown to activate regions within the social brain networks...
March 8, 2018: Autism Research: Official Journal of the International Society for Autism Research
A Hervas, I Rueda
INTRODUCTION: Autism spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present stereotypic behaviours. Comorbidity associated to conduct disorders is frequent, starts in infancy and, in general, continues into adulthood. It is sometimes associated with aggressiveness, negativism, self-harm and breaking social norms. It causes a high degree of dysfunctionality in persons with ASD, their family, professionals and those around them, and is the main cause of pharmacological treatment, hospitalisation and special education...
March 1, 2018: Revista de Neurologia
Dake Song, Yaping Ge, Zhaodi Chen, Chao Shang, Ying Guo, Taiyun Zhao, Yunfeng Li, Ning Wu, Rui Song, Jin Li
Post-traumatic stress disorder (PTSD) is a complicated psychiatric disorder, which occurs after exposure to a traumatic event. The main clinical manifestation of PTSD includes fear and stress dysregulation. In both animals and humans, dysregulation of dopamine function appears to be related to conditioned fear responses. Previous studies show that the dopamine D3 receptor (D3R) is involved in schizophrenia, autism, and substance use disorders and is related to emotional disorders. However, few studies have investigated the role of the D3R in the pathogenesis and aetiology of PTSD...
March 3, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
Karen V Chenausky, Gottfried Schlaug
Autism affects ∼1.5% of children under age 8; its core symptoms include impairment in social-communicative functioning and repetitive behaviors/restricted interests. Music-based interventions have been considered one modality through which to treat autism. This report discusses considerations to take into account when developing a music-based intervention for a core symptom of autism. Treatment modality must be matched to symptom both clinically and theoretically, the behavior to be treated must be carefully defined and assessed, and outcome measures must be capable of showing improvement in that behavior over the course of the study...
March 6, 2018: Annals of the New York Academy of Sciences
Marlena Duda, Hongjiu Zhang, Hong-Dong Li, Dennis P Wall, Margit Burmeister, Yuanfang Guan
Autism spectrum disorder (ASD) is a neuropsychiatric disorder with strong evidence of genetic contribution, and increased research efforts have resulted in an ever-growing list of ASD candidate genes. However, only a fraction of the hundreds of nominated ASD-related genes have identified de novo or transmitted loss of function (LOF) mutations that can be directly attributed to the disorder. For this reason, a means of prioritizing candidate genes for ASD would help filter out false-positive results and allow researchers to focus on genes that are more likely to be causative...
March 6, 2018: Translational Psychiatry
Veronica Romero, Paula Fitzpatrick, Stephanie Roulier, Amie Duncan, Michael J Richardson, R C Schmidt
Even high functioning children with Autism Spectrum Disorder (ASD) exhibit impairments that affect their ability to carry out and maintain effective social interactions in multiple contexts. One aspect of subtle nonverbal communication that might play a role in this impairment is the whole-body motor coordination that naturally arises between people during conversation. The current study aimed to measure the time-dependent, coordinated whole-body movements between children with ASD and a clinician during a conversational exchange using tools of nonlinear dynamics...
2018: PloS One
Danny Mollerup Sørensen, Tine Holemans, Sarah van Veen, Shaun Martin, Tugce Arslan, Ida Winther Haagendahl, Henrik Waldal Holen, Norin Nabil Hamouda, Jan Eggermont, Michael Palmgren, Peter Vangheluwe
Several human P5-type transport ATPases are implicated in neurological disorders, but little is known about their physiological function and properties. Here, we investigated the relationship between the five mammalian P5 isoforms ATP13A1-5 in a comparative study. We demonstrated that ATP13A1-4 isoforms undergo autophosphorylation, which is a hallmark P-type ATPase property that is required for substrate transport. A phylogenetic analysis of P5 sequences revealed that ATP13A1 represents clade P5A, which is highly conserved between fungi and animals with one member in each investigated species...
2018: PloS One
Monika Sommer, Katrin Döhnel, Irina Jarvers, Lore Blaas, Manuela Singer, Victoria Nöth, Tobias Schuwerk, Rainer Rupprecht
A central diagnostic criteria for autism spectrum disorder (ASD) is the qualitative impairment in reciprocal social interaction and a prominent hypotheses that tried to explain this impairment is the Theory of Mind (ToM) deficit hypotheses. On a behavioral level the critical test for having a ToM, the understanding of false beliefs (FB), is often used for testing ToM abilities in individuals with ASD. Investigating the neural underpinnings several neuroimaging studies revealed a network of areas involved in FB reasoning in neurotypical individuals...
2018: Frontiers in Psychology
Sarah M Haigh, Jennifer A Walsh, Carla A Mazefsky, Nancy J Minshew, Shaun M Eack
Autism spectrum disorder (ASD) is characterized by a variety of social and non-social behavioral deficits. One potential mechanism that could unify this diverse profile of behaviors is slower processing speed. Seventy-six high-functioning adults with ASD were compared to 64 matched controls on standardized measures of processing speed. Participants with ASD were significantly slower on all measures, and on the composite score from the three tests (d's > .65). ASD participants with slower processing speeds scored higher on the ADOS Communication and Reciprocal Social Interaction scale (r = ...
March 2, 2018: Journal of Autism and Developmental Disorders
Hsuan-Chen Wu, Sarah White, Geraint Rees, Paul W Burgess
Restricted and repetitive patterns of behaviours, interests, or activities are a critical diagnostic criterion for autism spectrum disorder (ASD). Previous studies using gambling paradigms with ASD populations have identified that, unlike typically developed control participants, people with a diagnosis of ASD tend to maintain particular response patterns regardless of the magnitude of potential outcomes to uncertain gains or losses. Here we designed a gambling test that permitted calculation of the response consistency in gambling choices in situations that presented varying expected outcomes in terms of gains or losses...
February 2, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
Jing Li, Liqi Zhu, Zhe Chen
This study examined judgment about punishment and whether punishment promoted cooperation in the prisoner's dilemma game (PDG) in children with high-functioning autism (HFA) and typically developing (TD) children. In total, 66 6- to 12-year-olds participated in this study. Children were first asked about judgments regarding rewards and punishment in stories, and then they were asked to play the PDG with a partner in conditions with and without punishment. Results showed that children with HFA believed that hitting others should deserve punishment to a greater extent than TD children did...
February 26, 2018: Journal of Experimental Child Psychology
Vicky Tsang
The eye-tracking experiment was carried out to assess fixation duration and scan paths that individuals with and without high-functioning autism spectrum disorders employed when identifying simple and complex emotions. Participants viewed human photos of facial expressions and decided on the identification of emotion, the negative-positive emotion orientation, and the degree of emotion intensity. Results showed that there was an atypical emotional processing in the high-functioning autism spectrum disorder group to identify facial emotions when eye-tracking data were compared between groups...
February 2018: Autism: the International Journal of Research and Practice
Tiziana Zalla, Magali Seassau, Fabienne Cazalis, Doriane Gras, Marion Leboyer
In this study, we examined the accuracy and dynamics of visually guided saccades in 20 adults with autism spectrum disorder, as compared to 20 typically developed adults using the Step/Overlap/Gap paradigms. Performances in participants with autistic spectrum disorder were characterized by preserved Gap/Overlap effect, but reduced gain and peak velocity, as well as a greater trial-to-trial variability in task performance, as compared to the control group. While visual orienting and attentional engagement were relatively preserved in individuals with autistic spectrum disorder, overall these findings provide evidence that abnormal oculomotor behavior in autistic spectrum disorder reflects an altered sensorimotor control due to cerebellar abnormalities, rather than a deficit in the volitional control of eye movements...
February 2018: Autism: the International Journal of Research and Practice
Ilaria Cataldo, Atiqah Azhari, Gianluca Esposito
Oxytocin ( OXT ) and arginine-vasopressin ( AVP ) play a key regulatory part in social and affiliative behaviors; two aspects highly compromised in Autism Spectrum Disorder (ASD). Furthermore, variants in the adjacent oxytocin-vasopressin gene regions have been found to be associated with ASD diagnosis and endophenotypes. This review focuses mainly on common OXTr single nucleotide polymorphisms (SNPs), AVPR1a microsatellites and AVPR1b polymorphisms in relation to the development of autism. Although these genes did not surface in genome-wide association studies, evidence supports the hypothesis that these receptors and their polymorphisms are widely involved in the regulation of social behavior, and in modulating neural and physiological pathways contributing to the etiology of ASD...
2018: Frontiers in Molecular Neuroscience
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