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Molecular Autism

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https://www.readbyqxmd.com/read/28184278/possible-sexually-dimorphic-role-of-mirna-and-other-sncrna-in-asd-brain
#1
Cynthia M Schumann, Frank R Sharp, Bradley P Ander, Boryana Stamova
BACKGROUND: Autism spectrum disorder (ASD) is sexually dimorphic in brain structure, genetics, and behaviors. In studies of brain tissue, the age of the population is clearly a factor in interpreting study outcome, yet sex is rarely considered. To begin to address this issue, we extend our previously published microarray analyses to examine expression of small noncoding RNAs (sncRNAs), including microRNAs (miRNAs), in ASD and in the control temporal cortex in males and females. Predicted miRNA targets were identified as well as the pathways they overpopulate...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28163867/umbilical-cord-blood-androgen-levels-and-asd-related-phenotypes-at-12-and-36%C3%A2-months-in-an-enriched-risk-cohort-study
#2
Bo Y Park, Brian K Lee, Igor Burstyn, Loni P Tabb, Jeff A Keelan, Andrew J O Whitehouse, Lisa A Croen, Margaret D Fallin, Irva Hertz-Picciotto, Owen Montgomery, Craig J Newschaffer
BACKGROUND: Autism spectrum disorder (ASD) affects more than 1% of children in the USA. The male-to-female prevalence ratio of roughly 4:1 in ASD is a well-recognized but poorly understood phenomenon. An explicit focus on potential etiologic pathways consistent with this sex difference, such as those involving prenatal androgen exposure, may help elucidate causes of ASD. Furthermore, the multi-threshold liability model suggests that the genetic mechanisms in females with ASD may be distinct and may modulate ASD risk in families with female ASD in the pedigree...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28138381/d-cycloserine-enhances-durability-of-social-skills-training-in-autism-spectrum-disorder
#3
Logan K Wink, Noha F Minshawi, Rebecca C Shaffer, Martin H Plawecki, David J Posey, Paul S Horn, Ryan Adams, Ernest V Pedapati, Tori L Schaefer, Christopher J McDougle, Naomi B Swiezy, Craig A Erickson
BACKGROUND: d-Cycloserine (DCS) enhances extinction learning across species, but it has proven challenging to identify consistent benefit of DCS when added to therapeutic interventions. We conducted a placebo-controlled trial of DCS to potentiate social skills training in autism spectrum disorder (ASD) but found substantial improvement in both the DCS and placebo groups at the conclusion of active treatment. Here, we assess the impact of DCS 11 weeks following active treatment to evaluate the impact of DCS on treatment response durability...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28070266/serum-and-cerebrospinal-fluid-immune-mediators-in-children-with-autistic-disorder-a-longitudinal-study
#4
Carlos A Pardo, Cristan A Farmer, Audrey Thurm, Fatma M Shebl, Jorjetta Ilieva, Simran Kalra, Susan Swedo
BACKGROUND: The causes of autism likely involve genetic and environmental factors that influence neurobiological changes and the neurological and behavioral features of the disorder. Immune factors and inflammation are hypothesized pathogenic influences, but have not been examined longitudinally. METHODS: In a cohort of 104 participants with autism, we performed an assessment of immune mediators such as cytokines, chemokines, or growth factors in serum and cerebrospinal fluid (n = 67) to determine potential influences of such mediators in autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28018573/basic-and-complex-emotion-recognition-in-children-with-autism-cross-cultural-findings
#5
Shimrit Fridenson-Hayo, Steve Berggren, Amandine Lassalle, Shahar Tal, Delia Pigat, Sven Bölte, Simon Baron-Cohen, Ofer Golan
BACKGROUND: Children with autism spectrum conditions (ASC) have emotion recognition deficits when tested in different expression modalities (face, voice, body). However, these findings usually focus on basic emotions, using one or two expression modalities. In addition, cultural similarities and differences in emotion recognition patterns in children with ASC have not been explored before. The current study examined the similarities and differences in the recognition of basic and complex emotions by children with ASC and typically developing (TD) controls across three cultures: Israel, Britain, and Sweden...
2016: Molecular Autism
https://www.readbyqxmd.com/read/28018572/placental-methylome-analysis-from-a-prospective-autism-study
#6
Diane I Schroeder, Rebecca J Schmidt, Florence K Crary-Dooley, Cheryl K Walker, Sally Ozonoff, Daniel J Tancredi, Irva Hertz-Picciotto, Janine M LaSalle
BACKGROUND: Autism spectrum disorders (ASD) are increasingly prevalent neurodevelopmental disorders that are behaviorally diagnosed in early childhood. Most ASD cases likely arise from a complex mixture of genetic and environmental factors, an interface where the epigenetic marks of DNA methylation may be useful as risk biomarkers. The placenta is a potentially useful surrogate tissue characterized by a methylation pattern of partially methylated domains (PMDs) and highly methylated domains (HMDs) reflective of methylation patterns observed in the early embryo...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27980709/bengali-translation-and-characterisation-of-four-cognitive-and-trait-measures-for-autism-spectrum-conditions-in-india
#7
Alokananda Rudra, Jai Ranjan Ram, Tom Loucas, Matthew K Belmonte, Bhismadev Chakrabarti
BACKGROUND: Autism is characterised by atypical social-communicative behaviour and restricted range of interests and repetitive behaviours. These features exist in a continuum in the general population. Behavioural measures validated across cultures and languages are required to quantify the dimensional traits of autism in these social and non-social domains. Bengali is the seventh most spoken language in the world. However, there is a serious dearth of data on standard measures of autism-related social and visual cognition in Bengali...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27957319/blood-brain-barrier-and-intestinal-epithelial-barrier-alterations-in-autism-spectrum-disorders
#8
Maria Fiorentino, Anna Sapone, Stefania Senger, Stephanie S Camhi, Sarah M Kadzielski, Timothy M Buie, Deanna L Kelly, Nicola Cascella, Alessio Fasano
BACKGROUND: Autism spectrum disorders (ASD) are complex conditions whose pathogenesis may be attributed to gene-environment interactions. There are no definitive mechanisms explaining how environmental triggers can lead to ASD although the involvement of inflammation and immunity has been suggested. Inappropriate antigen trafficking through an impaired intestinal barrier, followed by passage of these antigens or immune-activated complexes through a permissive blood-brain barrier (BBB), can be part of the chain of events leading to these disorders...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27924217/dyspraxia-and-autistic-traits-in-adults-with-and-without-autism-spectrum-conditions
#9
Sarah Cassidy, Penelope Hannant, Teresa Tavassoli, Carrie Allison, Paula Smith, Simon Baron-Cohen
BACKGROUND: Autism spectrum conditions (ASC) are frequently associated with motor coordination difficulties. However, no studies have explored the prevalence of dyspraxia in a large sample of individuals with and without ASC or associations between dyspraxia and autistic traits in these individuals. METHODS: Two thousand eight hundred seventy-one adults (with ASC) and 10,706 controls (without ASC) self-reported whether they have been diagnosed with dyspraxia. A subsample of participants then completed the Autism Spectrum Quotient (AQ; 1237 ASC and 6765 controls) and the Empathy Quotient (EQ; 1147 ASC and 6129 controls) online through the Autism Research Centre website...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27904735/urinary-metabolomics-of-young-italian-autistic-children-supports-abnormal-tryptophan-and-purine-metabolism
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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