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Molecular Autism

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https://www.readbyqxmd.com/read/27904735/urinary-metabolomics-of-young-italian-autistic-children-supports-abnormal-tryptophan-and-purine-metabolism
#1
Federica Gevi, Lello Zolla, Stefano Gabriele, Antonio M Persico
BACKGROUND: Autism spectrum disorder (ASD) is still diagnosed through behavioral observation, due to a lack of laboratory biomarkers, which could greatly aid clinicians in providing earlier and more reliable diagnoses. Metabolomics on human biofluids provides a sensitive tool to identify metabolite profiles potentially usable as biomarkers for ASD. Initial metabolomic studies, analyzing urines and plasma of ASD and control individuals, suggested that autistic patients may share some metabolic abnormalities, despite several inconsistencies stemming from differences in technology, ethnicity, age range, and definition of "control" status...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27895883/alexithymia-but-not-autism-spectrum-disorder-may-be-related-to-the-production-of-emotional-facial-expressions
#2
Dominic A Trevisan, Marleis Bowering, Elina Birmingham
BACKGROUND: A prominent diagnostic criterion of autism spectrum disorder (ASD) relates to the abnormal or diminished use of facial expressions. Yet little is known about the mechanisms that contribute to this feature of ASD. METHODS: We showed children with and without ASD emotionally charged video clips in order to parse out individual differences in spontaneous production of facial expressions using automated facial expression analysis software. RESULTS: Using hierarchical multiple regression, we sought to determine whether alexithymia (characterized by difficulties interpreting one's own feeling states) contributes to diminished facial expression production...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27826407/mimetic-desire-in-autism-spectrum-disorder
#3
Baudouin Forgeot d'Arc, Fabien Vinckier, Maël Lebreton, Isabelle Soulières, Laurent Mottron, Mathias Pessiglione
Mimetic desire (MD), the spontaneous propensity to pursue goals that others pursue, is a case of social influence that is believed to shape preferences. Autism spectrum disorder (ASD) is defined by both atypical interests and altered social interaction. We investigated whether MD is lower in adults with ASD compared to typically developed adults and whether MD correlates with social anhedonia and social judgment, two aspects of atypical social functioning in autism. Contrary to our hypotheses, MD was similarly present in both ASD and control groups...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27790361/a-systematic-variant-annotation-approach-for-ranking-genes-associated-with-autism-spectrum-disorders
#4
Eric Larsen, Idan Menashe, Mark N Ziats, Wayne Pereanu, Alan Packer, Sharmila Banerjee-Basu
BACKGROUND: The search for genetic factors underlying autism spectrum disorders (ASD) has led to the identification of hundreds of genes containing thousands of variants that differ in mode of inheritance, effect size, frequency, and function. A major challenge involves assessing the collective evidence in an unbiased, systematic manner for their functional relevance. METHODS: Here, we describe a scoring algorithm for prioritization of candidate genes based on the cumulative strength of evidence for each ASD-associated variant cataloged in AutDB (also known as SFARI Gene)...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27777716/emotional-decision-making-in-autism-spectrum-disorder-the-roles-of-interoception-and-alexithymia
#5
Punit Shah, Caroline Catmur, Geoffrey Bird
The way choices are framed influences decision-making. These "framing effects" emerge through the integration of emotional responses into decision-making under uncertainty. It was previously reported that susceptibility to the framing effect was reduced in individuals with autism spectrum disorder (ASD) due to a reduced tendency to incorporate emotional information into the decision-making process. However, recent research indicates that, where observed, emotional processing impairments in ASD may be due to co-occurring alexithymia...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27713816/cgg-repeat-dynamics-and-fmr1-gene-silencing-in-fragile-x-syndrome-stem-cells-and-stem-cell-derived-neurons
#6
Yifan Zhou, Daman Kumari, Nicholas Sciascia, Karen Usdin
BACKGROUND: Fragile X syndrome (FXS), a common cause of intellectual disability and autism, results from the expansion of a CGG-repeat tract in the 5' untranslated region of the FMR1 gene to >200 repeats. Such expanded alleles, known as full mutation (FM) alleles, are epigenetically silenced in differentiated cells thus resulting in the loss of FMRP, a protein important for learning and memory. The timing of repeat expansion and FMR1 gene silencing is controversial. METHODS: We monitored the repeat size and methylation status of FMR1 alleles with expanded CGG repeats in patient-derived induced pluripotent stem cells (iPSCs) and embryonic stem cells (ESCs) that were grown for extended period of time either as stem cells or differentiated into neurons...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27713815/altered-functional-organization-within-the-insular-cortex-in-adult-males-with-high-functioning-autism-spectrum-disorder-evidence-from-connectivity-based-parcellation
#7
Takashi Yamada, Takashi Itahashi, Motoaki Nakamura, Hiromi Watanabe, Miho Kuroda, Haruhisa Ohta, Chieko Kanai, Nobumasa Kato, Ryu-Ichiro Hashimoto
BACKGROUND: The insular cortex comprises multiple functionally differentiated sub-regions, each of which has different patterns of connectivity with other brain regions. Such diverse connectivity patterns are thought to underlie a wide range of insular functions, including cognitive, affective, and sensorimotor processing, many of which are abnormal in autism spectrum disorder (ASD). Although past neuroimaging studies of ASD have shown structural and functional abnormalities in the insula, possible alterations in the sub-regional organization of the insula and the functional characteristics of each sub-region have not been examined in the ASD brain...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27610215/social-affiliation-motives-modulate-spontaneous-learning-in-williams-syndrome-but-not-in-autism
#8
Giacomo Vivanti, Darren R Hocking, Peter Fanning, Cheryl Dissanayake
BACKGROUND: Children with autism spectrum disorder (ASD) and those with Williams syndrome (WS) have difficulties with learning, though the nature of these remains unclear. METHODS: In this study, we used novel eye-tracking and behavioral paradigms to measure how 36 preschoolers with ASD and 21 age- and IQ-matched peers with WS attend to and learn novel behaviors (1) from the outcomes of their own actions (non-social learning), (2) through imitation of others' actions (social learning), and across situations in which imitative learning served either an instrumental function or fulfilled social affiliation motives...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27606047/quantitative-autistic-trait-measurements-index-background-genetic-risk-for-asd-in-hispanic-families
#9
Joshua Page, John Nicholas Constantino, Katherine Zambrana, Eden Martin, Ilker Tunc, Yi Zhang, Anna Abbacchi, Daniel Messinger
BACKGROUND: Recent studies have indicated that quantitative autistic traits (QATs) of parents reflect inherited liabilities that may index background genetic risk for clinical autism spectrum disorder (ASD) in their offspring. Moreover, preferential mating for QATs has been observed as a potential factor in concentrating autistic liabilities in some families across generations. Heretofore, intergenerational studies of QATs have focused almost exclusively on Caucasian populations-the present study explored these phenomena in a well-characterized Hispanic population...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27602201/name-recognition-in-autism-eeg-evidence-of-altered-patterns-of-brain-activity-and-connectivity
#10
Anna Nowicka, Hanna B Cygan, Paweł Tacikowski, Paweł Ostaszewski, Rafał Kuś
BACKGROUND: Impaired orienting to social stimuli is one of the core early symptoms of autism spectrum disorder (ASD). However, in contrast to faces, name processing has rarely been studied in individuals with ASD. Here, we investigated brain activity and functional connectivity associated with recognition of names in the high-functioning ASD group and in the control group. METHODS: EEG was recorded in 15 young males with ASD and 15 matched one-to-one control individuals...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27594980/ketogenic-diet-modifies-the-gut-microbiota-in-a-murine-model-of-autism-spectrum-disorder
#11
Christopher Newell, Marc R Bomhof, Raylene A Reimer, Dustin S Hittel, Jong M Rho, Jane Shearer
BACKGROUND: Gastrointestinal dysfunction and gut microbial composition disturbances have been widely reported in autism spectrum disorder (ASD). This study examines whether gut microbiome disturbances are present in the BTBR(T + tf/j) (BTBR) mouse model of ASD and if the ketogenic diet, a diet previously shown to elicit therapeutic benefit in this mouse model, is capable of altering the profile. FINDINGS: Juvenile male C57BL/6 (B6) and BTBR mice were fed a standard chow (CH, 13 % kcal fat) or ketogenic diet (KD, 75 % kcal fat) for 10-14 days...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27579158/others-emotions-teach-but-not-in-autism-an-eye-tracking-pupillometry-study
#12
Heather J Nuske, Giacomo Vivanti, Cheryl Dissanayake
BACKGROUND: Much research has investigated deficit in emotional reactivity to others in people with autism, but scant attention has been paid to how this deficit affects their own reactions to features of their environment (objects, events, practices, etc.). The present study presents a preliminary analysis on whether calibrating one's own emotional reactions to others' emotional reactions about features of the world, a process we term social-emotional calibration, is disrupted in autism...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27429731/atypical-lateralization-of-motor-circuit-functional-connectivity-in-children-with-autism-is-associated-with-motor-deficits
#13
Dorothea L Floris, Anita D Barber, Mary Beth Nebel, Mary Martinelli, Meng-Chuan Lai, Deana Crocetti, Simon Baron-Cohen, John Suckling, James J Pekar, Stewart H Mostofsky
BACKGROUND: Atypical lateralization of language-related functions has been repeatedly found in individuals with autism spectrum conditions (ASC). Few studies have, however, investigated deviations from typically occurring asymmetry of other lateralized cognitive and behavioural domains. Motor deficits are among the earliest and most prominent symptoms in individuals with ASC and precede core social and communicative symptoms. METHODS: Here, we investigate whether motor circuit connectivity is (1) atypically lateralized in children with ASC and (2) whether this relates to core autistic symptoms and motor performance...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27418956/erratum-to-22q11-2-duplication-syndrome-elevated-rate-of-autism-spectrum-disorder-and-need-for-medical-screening
#14
Tara L Wenger, Judith S Miller, Lauren M DePolo, Ashley B de Marchena, Caitlin C Clements, Beverly S Emanuel, Elaine H Zackai, Donna M McDonald-McGinn, Robert T Schultz
No abstract text is available yet for this article.
2016: Molecular Autism
https://www.readbyqxmd.com/read/27375846/erratum-to-sex-differences-in-the-association-between-infant-markers-and-later-autistic-traits
#15
Rachael Bedford, Emily J H Jones, Mark H Johnson, Andrew Pickles, Tony Charman, Teodora Gliga
No abstract text is available yet for this article.
2016: Molecular Autism
https://www.readbyqxmd.com/read/27358720/data-from-the-baby-siblings-research-consortium-confirm-and-specify-the-nature-of-the-female-protective-effect-in-autism-a-commentary-on-messinger-et-al
#16
COMMENT
John N Constantino
Sibling recurrence data from the Baby Siblings Research Consortium (BSRC) recapitulate results from very large clinical family studies that demonstrate the absence of the Carter effect and provide clarification of the nature of the female protective effect in ASD. This legacy prospective data collection confirmed marked differences in the proportions of males versus females who lie along deviant trajectories of social development in the setting of inherited liability to autism--a phenomenon which defines the female protective effect--and demonstrate that among affected children, sex differences are modest and homologous to those observed among non-ASD children...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27358719/commentary-sex-difference-differences-a-reply-to-constantino
#17
COMMENT
Daniel S Messinger, Gregory S Young, Sara Jane Webb, Sally Ozonoff, Susan E Bryson, Alice Carter, Leslie Carver, Tony Charman, Katarzyna Chawarska, Suzanne Curtin, Karen Dobkins, Irva Hertz-Picciotto, Ted Hutman, Jana M Iverson, Rebecca Landa, Charles A Nelson, Wendy L Stone, Helen Tager-Flusberg, Lonnie Zwaigenbaum
Messinger et al. found a 3.18 odds ratio of male to female ASD recurrence in 1241 prospectively followed high-risk (HR) siblings. Among high-risk siblings (with and without ASD), as well as among 583 low-risk controls, girls exhibited higher performance on the Mullen Scales of Early Learning, as well as lower restricted and repetitive behavior severity scores on the Autism Diagnostic Observation Schedule (ADOS) than boys. That is, female-favoring sex differences in developmental performance and autism traits were evident among low-risk and non-ASD high-risk children, as well as those with ASD...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27354901/deletion-and-duplication-of-16p11-2-are-associated-with-opposing-effects-on-visual-evoked-potential-amplitude
#18
Jocelyn J LeBlanc, Charles A Nelson
BACKGROUND: Duplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. However, it is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. The aim of this study was to investigate whether the visual evoked potential (VEP) could be used as a noninvasive quantitative measure of cortical processing in children with 16p11.2 copy number variation. METHODS: Pattern-reversal VEPs were successfully recorded in 19 deletion carriers, 9 duplication carriers, and 13 typically developing children between the ages of 3 and 14 years...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27303619/short-report-relationship-between-restricted-and-repetitive-behaviours-in-children-with-autism-spectrum-disorder-and-their-parents
#19
Mirko Uljarević, David W Evans, Gail A Alvares, Andrew J O Whitehouse
BACKGROUND: Restricted and repetitive behaviours (RRBs) constitute a core symptom domain of autism spectrum disorder (ASD). However, the nature of RRBs in the context of the Broader Autism Phenotype (BAP) is not well understood. In particular, the relationship between RRBs in ASD probands and their parents remains largely unexplored. The current study explored the link between parental RRBs, measured via Interest in Patterns and Resistance to Changes subscales of the Autism Quotient and their children's RRBs, measured via Autism Diagnostic Observation Schedule RRB standardized domain score...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27226895/asymmetry-of-fusiform-structure-in-autism-spectrum-disorder-trajectory-and-association-with-symptom-severity
#20
Chase C Dougherty, David W Evans, Gajendra J Katuwal, Andrew M Michael
BACKGROUND: While asymmetry in the fusiform gyrus (FFG) has been reported in functional and structural studies in typically developing controls (TDC), few studies have examined FFG asymmetry in autism spectrum disorder (ASD) subjects and those studies are limited by small sample sizes, and confounded by cognitive ability or handedness. No previous work has examined FFG surface area or cortical thickness asymmetry in ASD; nor do we understand the trajectory of FFG asymmetry over time. Finally, it is not known how FFG structural asymmetry relates to ASD symptom severity...
2016: Molecular Autism
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