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Molecular Autism

Sophie Carruthers, Emma Kinnaird, Alokananda Rudra, Paula Smith, Carrie Allison, Bonnie Auyeung, Bhismadev Chakrabarti, Akio Wakabayashi, Simon Baron-Cohen, Ioannis Bakolis, Rosa A Hoekstra
Background: There is a global need for brief screening instruments that can identify key indicators for autism to support frontline professionals in their referral decision-making. Although a universal set of conditions, there may be subtle differences in expression, identification and reporting of autistic traits across cultures. In order to assess the potential for any measure for cross-cultural screening use, it is important to understand the relative performance of such measures in different cultures...
2018: Molecular Autism
Danielle Smith, Danielle Ropar, Harriet A Allen
Background: Experimental and longitudinal evidence suggests that motor proficiency plays an important role in the development of social skills. However, stereopsis, or depth perception, may also play a fundamental role in social skill development either indirectly through its impact on motor skills or through a more direct route. To date, no systematic study has investigated the relationship between social skills and motor ability in the general adult population, and whether poor stereopsis may contribute to this association...
2018: Molecular Autism
Alain C Burette, Matthew C Judson, Alissa N Li, Edward F Chang, William W Seeley, Benjamin D Philpot, Richard J Weinberg
Background: Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be learned about UBE3A, including its cellular and subcellular organization in the human brain. The issue is important, since UBE3A's localization is integral to its function. Methods: We used light and electron microscopic immunohistochemistry to study the cellular and subcellular distribution of UBE3A in the adult human cerebral cortex...
2018: Molecular Autism
James E A Hughes, Jamie Ward, Elin Gruffydd, Simon Baron-Cohen, Paula Smith, Carrie Allison, Julia Simner
Background: Savant syndrome is a condition where prodigious talent can co-occur with developmental conditions such as autism spectrum conditions (autism). It is not yet clear why some autistic people develop savant skills while others do not. Methods: We tested three groups of adults: autistic individuals who have savant skills, autistic individuals without savant skills, and typical controls without autism or savant syndrome. In experiment 1, we investigated the cognitive and behavioural profiles of these three groups by asking participants to complete a battery of self-report measures of sensory sensitivity, obsessional behaviours, cognitive styles, and broader autism-related traits including social communication and systemising...
2018: Molecular Autism
Kritika Nayar, Peter C Gordon, Gary E Martin, Abigail L Hogan, Chelsea La Valle, Walker McKinney, Michelle Lee, Elizabeth S Norton, Molly Losh
Background: Rapid automatized naming (RAN; naming of familiar items presented in an array) is a task that taps fundamental neurocognitive processes that are affected in a number of complex psychiatric conditions. Deficits in RAN have been repeatedly observed in autism spectrum disorder (ASD), and also among first-degree relatives, suggesting that RAN may tap features that index genetic liability to ASD. This study used eye tracking to examine neurocognitive mechanisms related to RAN performance in ASD and first-degree relatives, and investigated links to broader language and clinical-behavioral features...
2018: Molecular Autism
Virginia Carter Leno, Susie Chandler, Pippa White, Isabel Yorke, Tony Charman, Andrew Pickles, Emily Simonoff
Background: Many young people with autism spectrum disorder (ASD) experience emotional and behavioural problems. However, the causes of these co-occurring difficulties are not well understood. Perceptual processing atypicalities are also often reported in individuals with ASD, but how these relate to co-occurring emotional and behavioural problems remains unclear, and few studies have used objective measurement of perceptual processing. Methods: Event-related potentials (ERPs) were recorded in response to both standard and deviant stimuli (which varied in pitch) in an auditory oddball paradigm in adolescents (mean age of 13...
2018: Molecular Autism
Caroline Mann, Anke Bletsch, Derek Andrews, Eileen Daly, Clodagh Murphy, Declan Murphy, Christine Ecker
Background: Histological evidence suggests that autism spectrum disorder (ASD) is accompanied by a reduced integrity of the grey-white matter boundary. This has also recently been confirmed by a structural neuroimaging study in vivo reporting significantly reduced grey-white matter tissue contrast (GWC) in adult individuals (18-42 years of age) with ASD relative to typically developing (TD) controls. However, it remains unknown whether the neuroanatomical differences in ASD at the grey-white matter boundary are stable across development or are age-dependent...
2018: Molecular Autism
Emily A Brown, Jonathan D Lautz, Tessa R Davis, Edward P Gniffke, Alison A W VanSchoiack, Steven C Neier, Noah Tashbook, Chiara Nicolini, Margaret Fahnestock, Adam G Schrum, Stephen E P Smith
Background: Autism spectrum disorders (ASDs) are a heterogeneous group of behaviorally defined disorders and are associated with hundreds of rare genetic mutations and several environmental risk factors. Mouse models of specific risk factors have been successful in identifying molecular mechanisms associated with a given factor. However, comparisons among different models to elucidate underlying common pathways or to define clusters of biologically relevant disease subtypes have been complicated by different methodological approaches or different brain regions examined by the labs that developed each model...
2018: Molecular Autism
Monica Sonzogni, Ilse Wallaard, Sara Silva Santos, Jenina Kingma, Dorine du Mee, Geeske M van Woerden, Ype Elgersma
Background: Angelman syndrome (AS) is a neurodevelopmental disorder caused by mutations affecting UBE3A function. AS is characterized by intellectual disability, impaired motor coordination, epilepsy, and behavioral abnormalities including autism spectrum disorder features. The development of treatments for AS heavily relies on the ability to test the efficacy of drugs in mouse models that show reliable, and preferably clinically relevant, phenotypes. We previously described a number of behavioral paradigms that assess phenotypes in the domains of motor performance, repetitive behavior, anxiety, and seizure susceptibility...
2018: Molecular Autism
Hirokazu Kumazaki, Yuichiro Yoshikawa, Yuko Yoshimura, Takashi Ikeda, Chiaki Hasegawa, Daisuke N Saito, Sara Tomiyama, Kyung-Min An, Jiro Shimaya, Hiroshi Ishiguro, Yoshio Matsumoto, Yoshio Minabe, Mitsuru Kikuchi
Background: A growing body of anecdotal evidence indicates that the use of robots may provide unique opportunities for assisting children with autism spectrum disorders (ASD). However, previous studies investigating the effects of interventions using robots on joint attention (JA) in children with ASD have shown insufficient results. The robots used in these studies could not turn their eyes, which was a limitation preventing the robot from resembling a human agent. Methods: We compared the behavior of children with ASD with that of children with typical development (TD) during a JA elicitation task while the children interacted with either a human or a robotic agent...
2018: Molecular Autism
Jesse Barnes, Franklin Salas, Ryan Mokhtari, Hedwig Dolstra, Erika Pedrosa, Herbert M Lachman
Background: Lowe syndrome (LS) is a rare genetic disorder caused by loss of function mutations in the X-linked gene, OCRL , which codes for inositol polyphosphate 5-phosphatase. LS is characterized by the triad of congenital cataracts, neurodevelopmental impairment (primarily intellectual and developmental disabilities [IDD]), and renal proximal tubular dysfunction. Studies carried out over the years have shown that hypomorphic mutations in OCRL adversely affect endosome recycling and actin polymerization in kidney cells and patient-derived fibroblasts...
2018: Molecular Autism
Hyeong-Min Lee, Ellen P Clark, M Bram Kuijer, Mark Cushman, Yves Pommier, Benjamin D Philpot
Background: Angelman syndrome (AS) is a severe neurodevelopmental disorder lacking effective therapies. AS is caused by mutations in ubiquitin protein ligase E3A ( UBE3A ), which is genomically imprinted such that only the maternally inherited copy is expressed in neurons. We previously demonstrated that topoisomerase I (Top1) inhibitors could successfully reactivate the dormant paternal allele of Ube3a in neurons of a mouse model of AS. We also previously showed that one such Top1 inhibitor, topotecan, could unsilence paternal UBE3A in induced pluripotent stem cell-derived neurons from individuals with AS...
2018: Molecular Autism
Weiguo Xie, Xiaohu Ge, Ling Li, Athena Yao, Xiaoyan Wang, Min Li, Xiang Gong, Zhigang Chu, Zhe Lu, Xiaodong Huang, Yun Jiao, Yifei Wang, Meifang Xiao, Haijia Chen, Wei Xiang, Paul Yao
Background: Recent literatures indicate that maternal hormone exposure is a risk factor for autism spectrum disorder (ASD). We hypothesize that prenatal progestin exposure may counteract the neuroprotective effect of estrogen and contribute to ASD development, and we aim to develop a method to ameliorate prenatal progestin exposure-induced autism-like behavior. Methods: Experiment 1: Prenatal progestin exposure-induced offspring are treated with resveratrol (RSV) through either prenatal or postnatal exposure and then used for autism-like behavior testing and other biomedical analyses...
2018: Molecular Autism
Sarah Cassidy, Louise Bradley, Rebecca Shaw, Simon Baron-Cohen
Background: Research has shown high rates of suicidality in autism spectrum conditions (ASC), but there is lack of research into why this is the case. Many common experiences of autistic adults, such as depression or unemployment, overlap with known risk markers for suicide in the general population. However, it is unknown whether there are risk markers unique to ASC that require new tailored suicide prevention strategies. Methods: Through consultation with a steering group of autistic adults, a survey was developed aiming to identify unique risk markers for suicidality in this group...
2018: Molecular Autism
Olga V Sysoeva, John N Constantino, Andrey P Anokhin
Background: Inherited abnormalities of perception, recognition, and attention to faces have been implicated in the etiology of autism spectrum disorders (ASD) including abnormal components of event-related brain potentials (ERP) elicited by faces. Methods: We examined familial aggregation of face processing ERP abnormalities previously implicated in ASD in 49 verbal individuals with ASD, 36 unaffected siblings (US), 18 unaffected fathers (UF), and 53 unrelated controls (UC)...
2018: Molecular Autism
Shan V Andrews, Brooke Sheppard, Gayle C Windham, Laura A Schieve, Diana E Schendel, Lisa A Croen, Pankaj Chopra, Reid S Alisch, Craig J Newschaffer, Stephen T Warren, Andrew P Feinberg, M Daniele Fallin, Christine Ladd-Acosta
Background: Several reports have suggested a role for epigenetic mechanisms in ASD etiology. Epigenome-wide association studies (EWAS) in autism spectrum disorder (ASD) may shed light on particular biological mechanisms. However, studies of ASD cases versus controls have been limited by post-mortem timing and severely small sample sizes. Reports from in-life sampling of blood or saliva have also been very limited in sample size and/or genomic coverage. We present the largest case-control EWAS for ASD to date, combining data from population-based case-control and case-sibling pair studies...
2018: Molecular Autism
Matthew Benger, Maria Kinali, Nicholas D Mazarakis
Autism spectrum disorder (ASD) is characterised by the concomitant occurrence of impaired social interaction; restricted, perseverative and stereotypical behaviour; and abnormal communication skills. Recent epidemiological studies have reported a dramatic increase in the prevalence of ASD with as many as 1 in every 59 children being diagnosed with ASD. The fact that ASD appears to be principally genetically driven, and may be reversible postnatally, has raised the exciting possibility of using gene therapy as a disease-modifying treatment...
2018: Molecular Autism
Lam Son Nguyen, Julien Fregeac, Christine Bole-Feysot, Nicolas Cagnard, Anand Iyer, Jasper Anink, Eleonora Aronica, Olivier Alibeu, Patrick Nitschke, Laurence Colleaux
Background: MicroRNAs (miRNAs) are small, non-coding RNAs that regulate gene expression at the post-transcriptional level. miRNAs have emerged as important modulators of brain development and neuronal function and are implicated in several neurological diseases. Previous studies found miR-146a upregulation is the most common miRNA deregulation event in neurodevelopmental disorders such as autism spectrum disorder (ASD), epilepsy, and intellectual disability (ID). Yet, how miR-146a upregulation affects the developing fetal brain remains unclear...
2018: Molecular Autism
Andrew J O Whitehouse, Gail A Alvares, Dominique Cleary, Alexis Harun, Angela Stojanoska, Lauren J Taylor, Kandice J Varcin, Murray Maybery
Background: Nausea and vomiting during pregnancy (NVP) is thought to be caused by changes in maternal hormones during pregnancy. Differences in hormone exposure during prenatal life have been implicated in the causal pathways for some cases of autism spectrum disorder (ASD). However, no study has investigated whether the presence and severity of NVP may be related to symptom severity in offspring with ASD. Methods: A large sample of children with ASD (227 males and 60 females, aged 2 to 18 years) received a clinical assessment, during which parents completed questionnaires regarding their child's social (Social Responsiveness Scale, SRS) and communication (Children's Communication Checklist-2nd edition, CCC-2) symptoms...
2018: Molecular Autism
Marcos Campolongo, Nadia Kazlauskas, German Falasco, Leandro Urrutia, Natalí Salgueiro, Christian Höcht, Amaicha Mara Depino
Background: Autism spectrum disorder (ASD) is characterized by impaired social interactions and repetitive patterns of behavior. Symptoms appear in early life and persist throughout adulthood. Early social stimulation can help reverse some of the symptoms, but the biological mechanisms of these therapies are unknown. By analyzing the effects of early social stimulation on ASD-related behavior in the mouse, we aimed to identify brain structures that contribute to these behaviors. Methods: We injected pregnant mice with 600-mg/kg valproic acid (VPA) or saline (SAL) at gestational day 12...
2018: Molecular Autism
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