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Molecular Autism

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https://www.readbyqxmd.com/read/29719672/abnormal-coherence-and-sleep-composition-in-children-with-angelman-syndrome-a-retrospective-eeg-study
#1
Hanna den Bakker, Michael S Sidorov, Zheng Fan, David J Lee, Lynne M Bird, Catherine J Chu, Benjamin D Philpot
Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. Individuals with AS display characteristic EEG patterns including high-amplitude rhythmic delta waves. Here, we sought to quantitatively explore EEG architecture in AS beyond known spectral power phenotypes. We were motivated by studies of functional connectivity and sleep spindles in autism to study these EEG readouts in children with AS...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29719671/delineation-of-the-genetic-and-clinical-spectrum-of-phelan-mcdermid-syndrome-caused-by-shank3-point-mutations
#2
Silvia De Rubeis, Paige M Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria Del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A Ting Wang, J Lloyd Holder, Catalina Betancur, Joseph D Buxbaum, Alexander Kolevzon
Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29713443/prenatal-mercury-exposure-and-features-of-autism-a-prospective-population-study
#3
Jean Golding, Dheeraj Rai, Steven Gregory, Genette Ellis, Alan Emond, Yasmin Iles-Caven, Joseph Hibbeln, Caroline Taylor
Background: Mercury (Hg) has been suspected of causing autism in the past, especially a suspected link with vaccinations containing thiomersal, but a review of the literature shows that has been largely repudiated. Of more significant burden is the total quantity of Hg in the environment. Here, we have used the Avon Longitudinal Study of Parents and Children (ALSPAC) to test whether prenatal exposure from total maternal blood Hg in the first half of pregnancy is associated with the risk of autism or of extreme levels of autistic traits...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29713442/hans-asperger-national-socialism-and-race-hygiene-in-nazi-era-vienna
#4
Herwig Czech
Background: Hans Asperger (1906-1980) first designated a group of children with distinct psychological characteristics as 'autistic psychopaths' in 1938, several years before Leo Kanner's famous 1943 paper on autism. In 1944, Asperger published a comprehensive study on the topic (submitted to Vienna University in 1942 as his postdoctoral thesis), which would only find international acknowledgement in the 1980s. From then on, the eponym 'Asperger's syndrome' increasingly gained currency in recognition of his outstanding contribution to the conceptualization of the condition...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29713441/did-hans-asperger-actively-assist-the-nazi-euthanasia-program
#5
EDITORIAL
Simon Baron-Cohen, Ami Klin, Steve Silberman, Joseph D Buxbaum
No abstract text is available yet for this article.
2018: Molecular Autism
https://www.readbyqxmd.com/read/29686828/integrated-genome-wide-alu-methylation-and-transcriptome-profiling-analyses-reveal-novel-epigenetic-regulatory-networks-associated-with-autism-spectrum-disorder
#6
Thanit Saeliw, Chayanin Tangsuwansri, Surangrat Thongkorn, Weerasak Chonchaiya, Kanya Suphapeetiporn, Apiwat Mutirangura, Tewin Tencomnao, Valerie W Hu, Tewarit Sarachana
Background: Alu elements are a group of repetitive elements that can influence gene expression through CpG residues and transcription factor binding. Altered gene expression and methylation profiles have been reported in various tissues and cell lines from individuals with autism spectrum disorder (ASD). However, the role of Alu elements in ASD remains unclear. We thus investigated whether Alu elements are associated with altered gene expression profiles in ASD. Methods: We obtained five blood-based gene expression profiles from the Gene Expression Omnibus database and human Alu-inserted gene lists from the TranspoGene database...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29682271/eu-aims-longitudinal-european-autism-project-leap-the-autism-twin-cohort
#7
Johan Isaksson, Kristiina Tammimies, Janina Neufeld, Élodie Cauvet, Karl Lundin, Jan K Buitelaar, Eva Loth, Declan G M Murphy, Will Spooren, Sven Bölte
EU-AIMS is the largest European research program aiming to identify stratification biomarkers and novel interventions for autism spectrum disorder (ASD). Within the program, the Longitudinal European Autism Project (LEAP) has recruited and comprehensively phenotyped a rare sample of 76 monozygotic and dizygotic twins, discordant, or concordant for ASD plus 30 typically developing twins. The aim of this letter is to complete previous descriptions of the LEAP case-control sample, clinically characterize, and investigate the suitability of the sample for ASD twin-control analyses purposes and share some 'lessons learnt...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29651331/operationalizing-atypical-gaze-in-toddlers-with-autism-spectrum-disorders-a-cohesion-based-approach
#8
Quan Wang, Daniel J Campbell, Suzanne L Macari, Katarzyna Chawarska, Frederick Shic
Background: Multiple eye-tracking studies have highlighted the "atypical" nature of social attention in autism. However, it is unclear how "atypical" or "typical" should be quantified. Methods: We developed a method for identifying moments when members of a group looked at similar places (High-Cohesion Time Frames; HCTFs). We defined typicality as the proximity of gaze points to typically developing (TD) gaze points during TD HCTFs...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29651330/analysis-of-neuroanatomical-differences-in-mice-with-genetically-modified-serotonin-transporters-assessed-by-structural-magnetic-resonance-imaging
#9
Jacob Ellegood, Yohan Yee, Travis M Kerr, Christopher L Muller, Randy D Blakely, R Mark Henkelman, Jeremy Veenstra-VanderWeele, Jason P Lerch
Background: The serotonin (5-HT) system has long been implicated in autism spectrum disorder (ASD) as indicated by elevated whole blood and platelet 5-HT, altered platelet and brain receptor and transporter binding, and genetic linkage and association findings. Based upon work in genetically modified mice, 5-HT is known to influence several aspects of brain development, but systematic neuroimaging studies have not previously been reported. In particular, the 5-HT transporter (serotonin transporter, SERT; 5-HTT) gene, Slc6a4 , has been extensively studied...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29619162/crispr-cas9-induced-shank3b-mutant-zebrafish-display-autism-like-behaviors
#10
Chun-Xue Liu, Chun-Yang Li, Chun-Chun Hu, Yi Wang, Jia Lin, Yong-Hui Jiang, Qiang Li, Xiu Xu
Background: Human genetic and genomic studies have supported a strong causal role of SHANK3 deficiency in autism spectrum disorder (ASD). However, the molecular mechanism underlying SHANK3 deficiency resulting in ASD is not fully understood. Recently, the zebrafish has become an attractive organism to model ASD because of its high efficiency of genetic manipulation and robust behavioral phenotypes. The orthologous gene to human SHANK3 is duplicated in the zebrafish genome and has two homologs, shank3a and shank3b ...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29610657/sleep-disturbances-are-associated-with-specific-sensory-sensitivities-in-children-with-autism
#11
Orna Tzischinsky, Gal Meiri, Liora Manelis, Asif Bar-Sinai, Hagit Flusser, Analya Michaelovski, Orit Zivan, Michal Ilan, Michal Faroy, Idan Menashe, Ilan Dinstein
Background: Sensory abnormalities and sleep disturbances are highly prevalent in children with autism, but the potential relationship between these two domains has rarely been explored. Understanding such relationships is important for identifying children with autism who exhibit more homogeneous symptoms. Methods: Here, we examined this relationship using the Caregiver Sensory Profile and the Children's Sleep Habits Questionnaire, which were completed by parents of 69 children with autism and 62 age-matched controls...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29599960/association-between-maternal-antidepressant-use-during-pregnancy-and-autism-spectrum-disorder-an-updated-meta-analysis
#12
Xi-Hong Zhou, Yong-Jiang Li, Jian-Jun Ou, Ya-Min Li
Studies have investigated the risk of autism spectrum disorder (ASD) in children exposed in utero to antidepressant, with inconsistent results. Given the substantial public health implications on this topic, here, we presented an updated meta-analysis of the association between maternal antidepressant use during pregnancy and ASD. Cochrane Library, EMBASE, PsycINFO, and PubMed databases were systematically searched. A random effects model was used to pool the adjusted relative risk (RR) for cohort studies and the adjusted odds ratio (OR) for case-control studies as well as their corresponding 95% confidence intervals (CIs)...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29588831/analysis-of-the-expression-pattern-of-the-schizophrenia-risk-and-intellectual-disability-gene-tcf4-in-the-developing-and-adult-brain-suggests-a-role-in-development-and-plasticity-of-cortical-and-hippocampal-neurons
#13
Matthias Jung, Benjamin M Häberle, Tristan Tschaikowsky, Marie-Theres Wittmann, Elli-Anna Balta, Vivien-Charlott Stadler, Christiane Zweier, Arnd Dörfler, Christian Johannes Gloeckner, D Chichung Lie
Background: Haploinsufficiency of the class I bHLH transcription factor TCF4 causes Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder, while common variants in the TCF4 gene have been identified as susceptibility factors for schizophrenia. It remains largely unknown, which brain regions are dependent on TCF4 for their development and function. Methods: We systematically analyzed the expression pattern of TCF4 in the developing and adult mouse brain...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29581878/the-geometric-preference-subtype-in-asd-identifying-a-consistent-early-emerging-phenomenon-through-eye-tracking
#14
Adrienne Moore, Madeline Wozniak, Andrew Yousef, Cindy Carter Barnes, Debra Cha, Eric Courchesne, Karen Pierce
Background: The wide range of ability and disability in ASD creates a need for tools that parse the phenotypic heterogeneity into meaningful subtypes. Using eye tracking, our past studies revealed that when presented with social and geometric images, a subset of ASD toddlers preferred viewing geometric images, and these toddlers also had greater symptom severity than ASD toddlers with greater social attention. This study tests whether this "GeoPref test" effect would generalize across different social stimuli...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29564080/plasma-anandamide-concentrations-are-lower-in-children-with-autism-spectrum-disorder
#15
Debra S Karhson, Karolina M Krasinska, Jamie Ahloy Dallaire, Robin A Libove, Jennifer M Phillips, Allis S Chien, Joseph P Garner, Antonio Y Hardan, Karen J Parker
Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by restricted, stereotyped behaviors and impairments in social communication. Although the underlying biological mechanisms of ASD remain poorly understood, recent preclinical research has implicated the endogenous cannabinoid (or endocannabinoid), anandamide, as a significant neuromodulator in rodent models of ASD. Despite this promising preclinical evidence, no clinical studies to date have tested whether endocannabinoids are dysregulated in individuals with ASD...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29541439/network-specific-sex-differentiation-of-intrinsic-brain-function-in-males-with-autism
#16
Dorothea L Floris, Meng-Chuan Lai, Tanmay Nath, Michael P Milham, Adriana Di Martino
Background: The male predominance in the prevalence of autism spectrum disorder (ASD) has motivated research on sex differentiation in ASD. Multiple sources of evidence have suggested a neurophenotypic convergence of ASD-related characteristics and typical sex differences. Two existing, albeit competing, models provide predictions on such neurophenotypic convergence. These two models are testable with neuroimaging. Specifically, the Extreme Male Brain (EMB) model predicts that ASD is associated with enhanced brain maleness in both males and females with ASD (i...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29541438/practice-patterns-and-determinants-of-wait-time-for-autism-spectrum-disorder-diagnosis-in-canada
#17
Melanie Penner, Evdokia Anagnostou, Wendy J Ungar
Background: Inefficient diagnostic practices for autism spectrum disorder (ASD) may contribute to longer wait times, delaying access to intervention. The objectives were to describe the diagnostic practices of Canadian pediatricians and to identify determinants of longer wait time for ASD diagnosis. Methods: An online survey was conducted through the Canadian Paediatric Society's developmental pediatrics, community pediatrics, and mental health sections. Participants were asked for demographic information, whether they diagnosed ASD, and elements of their diagnostic assessment...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29507711/17-%C3%AE-estradiol-increases-parvalbumin-levels-in-pvalb-heterozygous-mice-and-attenuates-behavioral-phenotypes-with-relevance-to-autism-core-symptoms
#18
Federica Filice, Emanuel Lauber, Karl Jakob Vörckel, Markus Wöhr, Beat Schwaller
Background: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by two core symptoms: impaired social interaction and communication, and restricted, repetitive behaviors and interests. The pathophysiology of ASD is not yet fully understood, due to a plethora of genetic and environmental risk factors that might be associated with or causal for ASD. Recent findings suggest that one putative convergent pathway for some forms of ASD might be the downregulation of the calcium-binding protein parvalbumin (PV)...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29492241/objective-measurement-of-head-movement-differences-in-children-with-and-without-autism-spectrum-disorder
#19
Katherine B Martin, Zakia Hammal, Gang Ren, Jeffrey F Cohn, Justine Cassell, Mitsunori Ogihara, Jennifer C Britton, Anibal Gutierrez, Daniel S Messinger
Background: Deficits in motor movement in children with autism spectrum disorder (ASD) have typically been characterized qualitatively by human observers. Although clinicians have noted the importance of atypical head positioning (e.g. social peering and repetitive head banging) when diagnosing children with ASD, a quantitative understanding of head movement in ASD is lacking. Here, we conduct a quantitative comparison of head movement dynamics in children with and without ASD using automated, person-independent computer-vision based head tracking (Zface)...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29484150/insulin-receptor-sensitization-restores-neocortical-excitation-inhibition-balance-in-a-mouse-model-of-autism
#20
Fu-Sun Lo, Reha S Erzurumlu
Background: Met receptor tyrosine kinase regulates neurogenesis, differentiation, migration, connectivity, and synaptic plasticity. The human Met gene has been identified as a prominent risk factor for autism spectrum disorder (ASD). Met gene-altered mice serve as useful models for mechanistic studies of ASD. Inactivation of Met in excitatory cortical neurons in mice ( Emx1 cre /Met flox mice) yields a phenotype in which significantly decreased GABAA receptor-mediated inhibition shifts the excitation/inhibition (E/I) balance toward excitation in the somatosensory cortex...
2018: Molecular Autism
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