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Molecular Autism

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https://www.readbyqxmd.com/read/29340132/effect-of-epilepsy-on-autism-symptoms-in-angelman-syndrome
#1
Kristin A Bakke, Patricia Howlin, Lars Retterstøl, Øivind J Kanavin, Arvid Heiberg, Terje Nærland
Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic of ongoing debate. Angelman syndrome (AS) is presented as a suitable disease model to explore this association. Methods: Data from medical records and questionnaires were used to examine the association between age of epilepsy onset, autism symptoms, genetic aberration and communication level...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29321841/reversed-gender-ratio-of-autism-spectrum-disorder-in-smith-magenis-syndrome
#2
Heidi Elisabeth Nag, Ann Nordgren, Britt-Marie Anderlid, Terje Nærland
Background: A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29296277/identification-of-mutations-in-the-pi3k-akt-mtor-signalling-pathway-in-patients-with-macrocephaly-and-developmental-delay-and-or-autism
#3
Kit San Yeung, Winnie Wan Yee Tso, Janice Jing Kun Ip, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Mandy Ho Yin Tsang, Dingge Ying, Steven Lim Cho Pei, So Lun Lee, Wanling Yang, Brian Hon-Yin Chung
Background: Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-known gene identified in patients with this syndromic presentation, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to have important roles. The aim of this study is to characterise the mutation spectrum of this group of patients...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29270283/sparsifying-machine-learning-models-identify-stable-subsets-of-predictive-features-for-behavioral-detection-of-autism
#4
Sebastien Levy, Marlena Duda, Nick Haber, Dennis P Wall
Background: Autism spectrum disorder (ASD) diagnosis can be delayed due in part to the time required for administration of standard exams, such as the Autism Diagnostic Observation Schedule (ADOS). Shorter and potentially mobilized approaches would help to alleviate bottlenecks in the healthcare system. Previous work using machine learning suggested that a subset of the behaviors measured by ADOS can achieve clinically acceptable levels of accuracy. Here we expand on this initial work to build sparse models that have higher potential to generalize to the clinical population...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29234492/no-preliminary-evidence-of-differences-in-astrocyte-density-within-the-white-matter-of-the-dorsolateral-prefrontal-cortex-in-autism
#5
Ting Ting Lee, Efstratios Skafidas, Mirella Dottori, Daniela Zantomio, Christos Pantelis, Ian Everall, Gursharan Chana
Background: While evidence for white matter and astrocytic abnormalities exist in autism, a detailed investigation of astrocytes has not been conducted. Such an investigation is further warranted by an increasing role for neuroinflammation in autism pathogenesis, with astrocytes being key players in this process. We present the first study of astrocyte density and morphology within the white matter of the dorsolateral prefrontal cortex (DLPFC) in individuals with autism. Methods: DLPFC formalin-fixed sections containing white matter from individuals with autism (n = 8, age = 4-51 years) and age-matched controls (n = 7, age = 4-46 years) were immunostained for glial fibrillary acidic protein (GFAP)...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29214007/cytokine-levels-and-associations-with-symptom-severity-in-male-and-female-children-with-autism-spectrum-disorder
#6
Anne Masi, Edmond J Breen, Gail A Alvares, Nicholas Glozier, Ian B Hickie, Anna Hunt, Jennie Hui, John Beilby, David Ravine, John Wray, Andrew J O Whitehouse, Adam J Guastella
Background: Autism spectrum disorders (ASDs) are complex, pervasive, and heterogeneous neurodevelopmental conditions with varying trajectories, significant male bias and largely unknown etiology. However, an understanding of the biological mechanisms driving pathophysiology is evolving. Immune system aberrations, as identified through cytokine profiles, are believed to have a role in ASD. Altered cytokine levels may facilitate identification of ASD subtypes as well as provide biological markers of response to effective treatments...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29204259/early-development-of-infants-with-neurofibromatosis-type-1-a-case-series
#7
Anna May Kolesnik, Emily Jane Harrison Jones, Shruti Garg, Jonathan Green, Tony Charman, Mark Henry Johnson
Background: Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD. Methods: We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29158888/initial-evidence-that-non-clinical-autistic-traits-are-associated-with-lower-income
#8
William J Skylark, Simon Baron-Cohen
Among non-clinical samples, autistic traits correlate with a range of educational and social outcomes. However, previous work has not investigated the relationship between autistic traits and income, a key determinant of socio-economic status and well-being. In five studies (total N = 2491), we recruited participants without a diagnosis of autism from the general US population via an online platform and administered the short-form Autism Spectrum Quotient (AQ) as well as asked a range of demographic questions...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29152165/specificity-of-executive-function-and-theory-of-mind-performance-in-relation-to-attention-deficit-hyperactivity-symptoms-in-autism-spectrum-disorders
#9
Steve Lukito, Catherine R G Jones, Andrew Pickles, Gillian Baird, Francesca Happé, Tony Charman, Emily Simonoff
Background: Individuals with autism spectrum disorder (ASD) frequently demonstrate symptoms of attention-deficit/hyperactivity disorder (ADHD). Previous findings in children with ASD have suggested that these symptoms are associated with an impairment in executive function (EF) abilities. However, studies rarely considered this association within a single framework that controls for other related factors such as Theory of Mind (ToM) abilities and ASD symptoms. Methods: We used structural equation modeling to explore the relations among EF, ToM, and symptoms of ASD and ADHD, using data from a population-based sample of 100 adolescents with ASD and full-scale IQ ≥ 50 (the Special Needs and Autism Project (SNAP) cohort)...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29152164/mutations-in-rab39b-in-individuals-with-intellectual-disability-autism-spectrum-disorder-and-macrocephaly
#10
Marc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L Howe, Ny Hoang, Mohammed Uddin, Christian R Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W Scherer
Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene RAB39B segregates with ASD phenotype. Methods: Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29090080/critical-region-within-22q11-2-linked-to-higher-rate-of-autism-spectrum-disorder
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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