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Molecular Autism

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https://www.readbyqxmd.com/read/29090080/critical-region-within-22q11-2-linked-to-higher-rate-of-autism-spectrum-disorder
#1
Caitlin C Clements, Tara L Wenger, Alisa R Zoltowski, Jennifer R Bertollo, Judith S Miller, Ashley B de Marchena, Lauren M Mitteer, John C Carey, Benjamin E Yerys, Elaine H Zackai, Beverly S Emanuel, Donna M McDonald-McGinn, Robert T Schultz
BACKGROUND: Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. METHODS: We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29090079/prospective-investigation-of-foxp1-syndrome
#2
Paige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S Wallace, Heather C Mefford, Raphael A Bernier, Alexander Kolevzon, Joseph D Buxbaum
BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29090078/rna-sequencing-and-proteomics-approaches-reveal-novel-deficits-in-the-cortex-of-mecp2-deficient-mice-a-model-for-rett-syndrome
#3
Natasha L Pacheco, Michael R Heaven, Leanne M Holt, David K Crossman, Kristin J Boggio, Scott A Shaffer, Daniel L Flint, Michelle L Olsen
BACKGROUND: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator MeCP2. Much of our understanding of MeCP2 function is derived from transcriptomic studies with the general assumption that alterations in the transcriptome correlate with proteomic changes. Advances in mass spectrometry-based proteomics have facilitated recent interest in the examination of global protein expression to better understand the biology between transcriptional and translational regulation...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29075431/the-gapmap-project-a-mobile-surveillance-system-to-map-diagnosed-autism-cases-and-gaps-in-autism-services-globally
#4
Jena Daniels, Jessey Schwartz, Nikhila Albert, Michael Du, Dennis P Wall
Although the number of autism diagnoses is on the rise, we have no evidence-based tracking of size and severity of gaps in access to autism-related resources, nor do we have methods to geographically triangulate the locations of the widest gaps in either the US or elsewhere across the globe. To combat these related issues of (1) mapping diagnosed cases of autism and (2) quantifying gaps in access to key intervention services, we have constructed a crowd-based mobile platform called "GapMap" (http://gapmap.stanford...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29034068/clinical-phenotype-of-asd-associated-dyrk1a-haploinsufficiency
#5
Rachel K Earl, Tychele N Turner, Heather C Mefford, Caitlin M Hudac, Jennifer Gerdts, Evan E Eichler, Raphael A Bernier
BACKGROUND: DYRK1A is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and facial dysmorphisms. METHODS: Phenotypic information from previously published DYRK1A cases (n = 51) and participants in an ongoing study at the University of Washington (UW, n = 10) were compiled. Frequencies of recurrent phenotypic features in this population were compared to features observed in a large sample with idiopathic ASD from the Simons Simplex Collection (n = 1981)...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29026510/a-novel-system-for-tracking-social-preference-dynamics-in-mice-reveals-sex-and-strain-specific-characteristics
#6
Shai Netser, Shani Haskal, Hen Magalnik, Shlomo Wagner
BACKGROUND: Deciphering the biological mechanisms underlying social behavior in animal models requires standard behavioral paradigms that can be unbiasedly employed in an observer- and laboratory-independent manner. During the past decade, the three-chamber test has become such a standard paradigm used to evaluate social preference (sociability) and social novelty preference in mice. This test suffers from several caveats, including its reliance on spatial navigation skills and negligence of behavioral dynamics...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29026509/development-and-evaluation-of-a-speech-generating-aac-mobile-app-for-minimally-verbal-children-with-autism-spectrum-disorder-in-mainland-china
#7
Sainan An, Xiaoping Feng, Yue Dai, Hongli Bo, Xiuqing Wang, Mu Li, John Zhuohao Woo, Xingmei Liang, Cheng Guo, Charles Xingchao Liu, Liping Wei
BACKGROUND: Mobile touchscreen devices are currently being used as speech-generating devices (SGDs) and have been shown to promote the communication skills, particularly the requesting skills of children with autism spectrum disorders (ASD) who have limited spoken language. However, no augmentative and alternative communication (AAC) mobile app has been developed and evaluated in the Chinese language in Mainland China. METHODS: We developed an AAC mobile app, which is the first in Mainland China, to our knowledge, named Yuudee (Chinese name (xiaoyudi))...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29026508/the-association-between-maternal-use-of-folic-acid-supplements-during-pregnancy-and-risk-of-autism-spectrum-disorders-in-children-a-meta-analysis
#8
Meiyun Wang, Kaiqin Li, Dongmei Zhao, Ling Li
Previous reviews have been conducted to evaluate the association between maternal use of folic acid supplements during pregnancy and risk of autism spectrum disorders (ASD) in children, with no definitive conclusion. We therefore conducted a more comprehensive meta-analysis to reassess the relationship between folic acid and the risk of ASD. The electronic databases PubMed, Web of Knowledge, and Wanfang Data were carefully searched to find eligible studies as recent as March 2017. A random effects model was used to combine the relative risk (RR) with 95% confidence intervals (CI)...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29021890/zebrafish-knockout-of-down-syndrome-gene-dyrk1a-shows-social-impairments-relevant-to-autism
#9
Oc-Hee Kim, Hyun-Ju Cho, Enna Han, Ted Inpyo Hong, Krishan Ariyasiri, Jung-Hwa Choi, Kyu-Seok Hwang, Yun-Mi Jeong, Se-Yeol Yang, Kweon Yu, Doo-Sang Park, Hyun-Woo Oh, Erica E Davis, Charles E Schwartz, Jeong-Soo Lee, Hyung-Goo Kim, Cheol-Hee Kim
BACKGROUND: DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disability or autism in humans. Intellectual disability accompanied by microcephaly was recapitulated in a murine model by overexpressing Dyrk1a which mimicked Down syndrome phenotypes. However, given embryonic lethality in homozygous knockout (KO) mice, no murine model studies could present sufficient evidence to link Dyrk1a dysfunction with autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29021889/linguistic-camouflage-in-girls-with-autism-spectrum-disorder
#10
Julia Parish-Morris, Mark Y Liberman, Christopher Cieri, John D Herrington, Benjamin E Yerys, Leila Bateman, Joseph Donaher, Emily Ferguson, Juhi Pandey, Robert T Schultz
BACKGROUND: Autism spectrum disorder (ASD) is diagnosed more frequently in boys than girls, even when girls are equally symptomatic. Cutting-edge behavioral imaging has detected "camouflaging" in girls with ASD, wherein social behaviors appear superficially typical, complicating diagnosis. The present study explores a new kind of camouflage based on language differences. Pauses during conversation can be filled with words like UM or UH, but research suggests that these two words are pragmatically distinct (e...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29018511/neurocognitive-and-observational-markers-prediction-of-autism-spectrum-disorder-from-infancy-to-mid-childhood
#11
Rachael Bedford, Teodora Gliga, Elizabeth Shephard, Mayada Elsabbagh, Andrew Pickles, Tony Charman, Mark H Johnson
BACKGROUND: Prospective studies of infants at high familial risk for autism spectrum disorder (ASD) have identified a number of putative early markers that are associated with ASD outcome at 3 years of age. However, some diagnostic changes occur between toddlerhood and mid-childhood, which raises the question of whether infant markers remain associated with diagnosis into mid-childhood. METHODS: First, we tested whether infant neurocognitive markers (7-month neural response to eye gaze shifts and 14-month visual disengagement latencies) as well as an observational marker of emerging ASD behaviours (the Autism Observation Scale for Infants; AOSI) predicted ASD outcome in high-risk (HR) 7-year-olds with and without an ASD diagnosis (HR-ASD and HR-No ASD) and low risk (LR) controls...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28932379/testing-the-excitation-inhibition-imbalance-hypothesis-in-a-mouse-model-of-the-autism-spectrum-disorder-in-vivo-neurospectroscopy-and-molecular-evidence-for-regional-phenotypes
#12
Joana Gonçalves, Inês R Violante, José Sereno, Ricardo A Leitão, Ying Cai, Antero Abrunhosa, Ana Paula Silva, Alcino J Silva, Miguel Castelo-Branco
BACKGROUND: Excitation/inhibition (E/I) imbalance remains a widely discussed hypothesis in autism spectrum disorders (ASD). The presence of such an imbalance may potentially define a therapeutic target for the treatment of cognitive disabilities related to this pathology. Consequently, the study of monogenic disorders related to autism, such as neurofibromatosis type 1 (NF1), represents a promising approach to isolate mechanisms underlying ASD-related cognitive disabilities. However, the NF1 mouse model showed increased γ-aminobutyric acid (GABA) neurotransmission, whereas the human disease showed reduced cortical GABA levels...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28824796/prenatal-levonorgestrel-exposure-induces-autism-like-behavior-in-offspring-through-er%C3%AE-suppression-in-the-amygdala
#13
Yuanlin Zou, Qiaomei Lu, Dan Zheng, Zhigang Chu, Zhaoyu Liu, Haijia Chen, Qiongfang Ruan, Xiaohu Ge, Ziyun Zhang, Xiaoyan Wang, Wenting Lou, Yongjian Huang, Yifei Wang, Xiaodong Huang, Zhengxiang Liu, Weiguo Xie, Yikai Zhou, Paul Yao
BACKGROUND: Autism spectrum disorder (ASD) is characterized by impairments in social communication and restricted or repetitive behaviors or interests. ASD is now diagnosed in more than one out of 100 children and is biased towards males by a ratio of at least 4:1. Many possible explanations and potential causative factors have been reported, such as genetics, sex, and environmental factors, although the detailed mechanisms of ASD remain unclear. METHODS: The dams were exposed through oral contraceptives to either vehicle control (VEH) alone, levonorgestrel (LNG) alone, ethinyl estradiol (EE) alone, or a combination of LNG/EE for 21 days during their pregnancy...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28824795/attitudes-toward-risk-and-ambiguity-in-patients-with-autism-spectrum-disorder
#14
Junya Fujino, Shisei Tei, Ryu-Ichiro Hashimoto, Takashi Itahashi, Haruhisa Ohta, Chieko Kanai, Rieko Okada, Manabu Kubota, Motoaki Nakamura, Nobumasa Kato, Hidehiko Takahashi
Although the ability to make optimal decisions under uncertainty is an integral part of everyday life, individuals with autism spectrum disorder (ASD) frequently report that they experience difficulties with this skill. In behavioral economics, researchers distinguish two types of uncertainty to understand decision-making in this setting: risk (known probabilities) and ambiguity (unknown probabilities). However, it remains unclear how individuals with ASD behave under risk and ambiguity, despite growing evidence of their altered decision-making under uncertainty...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28808521/replicative-genetic-association-study-between-functional-polymorphisms-in-avpr1a-and-social-behavior-scales-of-autism-spectrum-disorder-in-the-korean-population
#15
So Young Yang, Soon Ae Kim, Gang Min Hur, Mira Park, Jong-Eun Park, Hee Jeong Yoo
BACKGROUND: Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28785396/identification-of-autism-related-mecp2-mutations-by-whole-exome-sequencing-and-functional-validation
#16
Zhu Wen, Tian-Lin Cheng, Gai-Zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du, Zilong Qiu
BACKGROUND: Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either loss- or gain-of-function leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD). We set out to screen for MECP2 mutations in patients of ASD and determine whether these autism-related mutations may compromise the proper function of MeCP2. METHODS: Whole-exome sequencing was performed to screen MECP2 and other ASD candidate genes for 120 patients diagnosed with ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28770039/globally-weaker-and-topologically-different-resting-state-connectivity-in-youth-with-autism
#17
Benjamin E Yerys, John D Herrington, Theodore D Satterthwaite, Lisa Guy, Robert T Schultz, Danielle S Bassett
BACKGROUND: There is a lack of agreement about functional connectivity differences in individuals with autism spectrum disorder (ASD). Studies using absolute strength have found reduced connectivity, while those using relative strength--a measure of system topology--reveal mostly enhanced connectivity. We hypothesized that mixed findings may be driven by the metric of functional connectivity. METHODS: Resting-state echo planar 3 T functional magnetic resonance imaging scans were acquired on a Siemens Verio Scanner from 6 to 17-year-old youth with ASD (n = 81) and a matched typically developing control group (n = 82)...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28770038/erratum-to-neural-synchronization-deficits-linked-to-cortical-hyper-excitability-and-auditory-hypersensitivity-in-fragile-x-syndrome
#18
Lauren E Ethridge, Stormi P White, Matthew W Mosconi, Jun Wang, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
[This corrects the article DOI: 10.1186/s13229-017-0140-1.].
2017: Molecular Autism
https://www.readbyqxmd.com/read/28770037/adhd-related-symptoms-and-attention-profiles-in-the-unaffected-siblings-of-probands-with-autism-spectrum-disorder-focus-on-the-subtypes-of-autism-and-asperger-s-disorder
#19
Yi-Ling Chien, Miao-Chun Chou, Yen-Nan Chiu, Wen-Jiun Chou, Yu-Yu Wu, Wen-Che Tsai, Susan Shur-Fen Gau
BACKGROUND: The presence of attention-deficit/hyperactive disorder (ADHD) symptoms and impaired attention performance are commonly noted in individuals with autism spectrum disorder (ASD). However, little is known about attention performance in their unaffected siblings. This study aimed to investigate the ADHD-related traits and attention performance in unaffected siblings of probands with autism and Asperger syndrome (AS), as well as the clinical correlates of ADHD-related traits. METHODS: We assessed the intention, hyperactivity-impulsivity, and oppositional symptoms, and attention profiles of 199 probands with a diagnosis of ASD (122 autism, 77 AS), their unaffected siblings, and 196 typically developing controls (TD) by their parents' reports on the ADHD-related symptoms and the Connors' Continuous Performance Test (CCPT), respectively...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28736608/interrelationship-between-insistence-on-sameness-effortful-control-and-anxiety-in-adolescents-and-young-adults-with-autism-spectrum-disorder-asd
#20
Mirko Uljarević, Amanda L Richdale, David W Evans, Ru Ying Cai, Susan R Leekam
BACKGROUND: Both self-regulation and insistence on sameness (IS) are related to anxiety, which is a common feature of individuals with autism spectrum disorder (ASD). Here, we aimed to characterise the IS-self-regulation-anxiety interrelationship by investigating the potential contribution made by self-regulation, assessed via effortful control (EC), to the IS-anxiety relationship in a sample of adolescents and young adults with ASD. METHOD: Seventy-one older adolescents and younger adults with ASD (49 males, 22 females; Mage = 18...
2017: Molecular Autism
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