keyword
MENU ▼
Read by QxMD icon Read
search

Autism spectrum disorder females

keyword
https://www.readbyqxmd.com/read/29152164/mutations-in-rab39b-in-individuals-with-intellectual-disability-autism-spectrum-disorder-and-macrocephaly
#1
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/29145823/dbmdega-a-database-for-meta-analysis-of-differentially-expressed-genes-in-autism-spectrum-disorder
#2
Shuyun Zhang, Libin Deng, Qiyue Jia, Shaoting Huang, Junwang Gu, Fankun Zhou, Meng Gao, Xinyi Sun, Chang Feng, Guangqin Fan
BACKGROUND: Autism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders. Individual studies on gene expression in ASD cannot provide clear consensus conclusions. Therefore, a systematic review to synthesize the current findings from brain tissues and a search tool to share the meta-analysis results are urgently needed. METHODS: Here, we conducted a meta-analysis of brain gene expression profiles in the current reported human ASD expression datasets (with 84 frozen male cortex samples, 17 female cortex samples, 32 cerebellum samples and 4 formalin fixed samples) and knock-out mouse ASD model expression datasets (with 80 collective brain samples)...
November 16, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#3
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29139169/sex-differences-in-the-phagocytic-and-migratory-activity-of-microglia-and-their-impairment-by-palmitic-acid
#4
Natalia Yanguas-Casás, Andrea Crespo-Castrillo, Maria L de Ceballos, Julie A Chowen, Iñigo Azcoitia, Maria Angeles Arevalo, Luis M Garcia-Segura
Sex differences in the incidence, clinical manifestation, disease course, and prognosis of neurological diseases, such as autism spectrum disorders or Alzheimer's disease, have been reported. Obesity has been postulated as a risk factor for cognitive decline and Alzheimer's disease and, during pregnancy, increases the risk of autism spectrum disorders in the offspring. Obesity is associated with increased serum and brain levels of free fatty acids, such as palmitic acid, which activate microglial cells triggering a potent inflammatory cascade...
November 15, 2017: Glia
https://www.readbyqxmd.com/read/29104007/perinatal-exposure-to-concentrated-ambient-particulates-results-in-autism-like-behavioral-deficits-in-adult-mice
#5
Jamie S Church, Pamella B Tijerina, Felicity J Emerson, Morgan A Coburn, Jason L Blum, Judith T Zelikoff, Jared J Schwartzer
Exposure to fine ambient particulates (PM2.5) during gestation or neonatally has potent neurotoxic effects. While biological and behavioral data indicate a vulnerability to environmental pollutants across distinct neurodevelopmental windows, the behavioral consequences following exposure across the entire developmental period remain unknown. Moreover, several epidemiological studies support a link between developmental exposure to air pollution and an increased risk of later receiving a diagnosis of autism spectrum disorders (ASD), a neurodevelopmental disorder that persists throughout life...
November 2, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/29095880/circumscribed-interests-in-adolescents-with-autism-spectrum-disorder-a-look-beyond-trains-planes-and-clocks
#6
Ivy Y K Cho, Kristina Jelinkova, Manuela Schuetze, Sarah A Vinette, Sarah Rahman, Adam McCrimmon, Deborah Dewey, Signe Bray
Adolescence is a unique developmental period, characterized by physical and emotional growth and significant maturation of cognitive and social skills. For individuals with Autism Spectrum Disorder (ASD), it is also a vulnerable period as cognitive and social skills can deteriorate. Circumscribed interests (CIs), idiosyncratic areas of intense interest and focus, are a core symptom of ASD that may be associated with social development. Yet, relatively little is known about the expression of CIs in adolescents with ASD...
2017: PloS One
https://www.readbyqxmd.com/read/29074576/a-pre-synaptic-function-of-shank-protein-in-drosophila
#7
Song Wu, Guangming Gan, Zhiping Zhang, Jie Sun, Qifu Wang, Zhongbao Gao, Meixiang Li, Shan Jin, Juan Huang, Ulrich Thomas, Yong-Hui Jiang, Yan Li, Rui Tian, Yong Q Zhang
Human genetic studies support that loss of function mutations in the [highlight]SH[/highlight]3 domain and [highlight]ank[/highlight]yrin repeat containing family proteins (SHANK1-3), the large synaptic scaffolding proteins enriched at the postsynaptic density of excitatory synapses, are causative for autism spectrum disorder (ASD) and other neuropsychiatric disorders in humans. To better understand the in vivo functions of Shank and facilitate dissection of neuropathology associated with SHANK mutations in human, we generated multiple mutations in the Shank gene, the only member of the SHANK family in Drosophila melanogaster Both male and female Shank null mutants were fully viable and fertile with no apparent morphological or developmental defects...
October 26, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29073621/sexually-dimorphic-epigenetic-regulation-of-brain-derived-neurotrophic-factor-in-fetal-brain-in-the-valproic-acid-model-of-autism-spectrum-disorder
#8
Melissa A Konopko, Allison L Densmore, Bruce K Krueger
Prenatal exposure to the antiepileptic, mood-stabilizing drug, valproic acid (VPA), increases the incidence of autism spectrum disorders (ASDs); in utero administration of VPA to pregnant rodents induces ASD-like behaviors such as repetitive, stereotyped activity, and decreased socialization. In both cases, males are more affected than females. We previously reported that VPA, administered to pregnant mice at gestational day 12.5, rapidly induces a transient, 6-fold increase in BDNF (brain-derived neurotrophic factor) protein and mRNA in the fetal brain...
October 27, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/29072484/accelerometer-assessed-physical-activity-and-sedentary-time-in-youth-with-disabilities
#9
Karin Lobenius-Palmér, Birgitta Sjöqvist, Anita Hurtig-Wennlöf, Lars-Olov Lundqvist
This study compared accelerometer-assessed habitual physical activity (PA), sedentary time, and meeting PA recommendations among 102 youth with disabilities (7-20 years) in four subgroups-physical/visual impairments, intellectual disability, autism spectrum disorders, and hearing impairment-and 800 youth with typical development (8-16 years). Low proportions of youth with disabilities met PA recommendations, and they generally were less physically active and more sedentary than youth with typical development...
October 26, 2017: Adapted Physical Activity Quarterly: APAQ
https://www.readbyqxmd.com/read/29039208/first-impressions-of-adults-with-autism-improve-with-diagnostic-disclosure-and-increased-autism-knowledge-of-peers
#10
Noah J Sasson, Kerrianne E Morrison
A practical consideration for many intellectually able adults with autism spectrum disorder (ASD) is whether to disclose their diagnostic status or try to mask their autistic characteristics to avoid judgment and discrimination. Here, we assessed first impressions of adults with ASD and typically developing controls ( N = 40) made by typically developing observers ( N = 215) when their diagnostic status was either withheld, accurately provided, or inaccurately provided. First impressions were less favorable for ASD participants compared to typically developing controls across a range of judgments, but were significantly more positive when accurately labeled as ASD compared to when no label was provided, when mislabeled as typically developing, or when mislabeled as having schizophrenia...
October 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29038598/male-specific-deficits-in-natural-reward-learning-in-a-mouse-model-of-neurodevelopmental-disorders
#11
N M Grissom, S E McKee, H Schoch, N Bowman, R Havekes, W T O'Brien, E Mahrt, S Siegel, K Commons, C Portfors, T Nickl-Jockschat, T M Reyes, T Abel
Neurodevelopmental disorders, including autism spectrum disorders, are highly male biased, but the underpinnings of this are unknown. Striatal dysfunction has been strongly implicated in the pathophysiology of neurodevelopmental disorders, raising the question of whether there are sex differences in how the striatum is impacted by genetic risk factors linked to neurodevelopmental disorders. Here we report male-specific deficits in striatal function important to reward learning in a mouse model of 16p11.2 hemideletion, a genetic mutation that is strongly associated with the risk of neurodevelopmental disorders, particularly autism and attention-deficit hyperactivity disorder...
October 17, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29038507/changes-in-brain-metabolic-connectivity-underlie-autistic-like-social-deficits-in-a-rat-model-of-autism-spectrum-disorder
#12
Hojin Cho, Chul Hoon Kim, Elizabeth Quattrocki Knight, Hye Won Oh, Bumhee Park, Dong Goo Kim, Hae-Jeong Park
The neurobiological basis of social dysfunction and the high male prevalence in autism spectrum disorder (ASD) remain poorly understood. Although network alterations presumably underlie the development of autistic-like behaviors, a clear pattern of connectivity differences specific to ASD has not yet emerged. Because the heterogeneous nature of ASD hinders investigations in human subjects, we explored brain connectivity in an etiologically homogenous rat model of ASD induced by exposure to valproic acid (VPA) in utero...
October 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29033484/congenital-malformation-and-autism-spectrum-disorder-insight-from-a-rat-model-of-autism-spectrum-disorder
#13
Rakesh K Ruhela, Phulen Sarma, Shringika Soni, Ajay Prakash, Bikash Medhi
AIMS AND OBJECTIVES: The primary aim was an evaluation of the pattern of gross congenital malformations in a rat model of autism spectrum disorder (ASD) and the secondary aim was characterization of the most common gross malformation observed. MATERIALS AND METHODS: In females, the late pro-oestrous phase was identified by vaginal smear cytology, and then, they were allowed to mate at 1:3 ratio (male: female). Pregnancy was confirmed by the presence of sperm plug in the vagina and presence of sperm in the vaginal smear...
May 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/29027364/a-functional-polymorphism-of-the-oxtr-gene-is-associated-with-autistic-traits-in-caucasian-and-asian-populations
#14
Christian Montag, Cornelia Sindermann, Martin Melchers, Sonja Jung, Ruixue Luo, Benjamin Becker, Jiang Xie, Wenming Xu, Adam J Guastella, Keith M Kendrick
There is increasing evidence for associations between polymorphisms of the oxytocin receptor (OXTR) gene and autism spectrum disorder, but to date no study has established links with autistic traits in healthy subjects and potential cultural differences. The present research firstly investigated associations between three widely studied OXTR SNPs and autistic and empathic traits (rs53576 (G/A); rs2254298 (G/A); rs2268498 (T/C)) in two independent studies on male and female Caucasian (n = 537) and Chinese students (n = 280)...
December 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29026510/a-novel-system-for-tracking-social-preference-dynamics-in-mice-reveals-sex-and-strain-specific-characteristics
#15
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/28985155/exploring-the-relationship-between-autistic-traits-and-body-image-body-satisfaction-and-body-competence
#16
Alek Krumm, F Richard Ferraro, Brita Ingvalson
Autism spectrum disorders (ASD) have been linked to bodily disorders (anorexia nervosa, obesity), and individuals with ASD are known to experience unique bodily states (e.g., exaggerated interoceptive sensitivity). Though there is evidence to suggest body variables may significantly impact quality of life in those with ASD, research has yet to examine the potential relationship between ASD and body image variables, that is, the evaluation of one's body. The present study examined 80 healthy college students (40 male, 40 female) who completed an online set of questionnaires regarding body image and satisfaction, body competency, depression, anxiety, and autistic traits (Autism Spectrum Quotient, or AQ) (Baron-Cohen, Wheelwright, Skinner, Martin, & Clubley, 2001 )...
August 18, 2017: Journal of Psychology
https://www.readbyqxmd.com/read/28978667/foxp1-in-forebrain-pyramidal-neurons-controls-gene-expression-required-for-spatial-learning-and-synaptic-plasticity
#17
Daniel J Araujo, Kazuya Toriumi, Christine O Escamilla, Ashwinikumar Kulkarni, Ashley G Anderson, Matthew Harper, Noriyoshi Usui, Jacob Ellegood, Jason P Lerch, Shari G Birnbaum, Haley O Tucker, Craig M Powell, Genevieve Konopka
Genetic perturbations of the transcription factor Forkhead Box P1 (FOXP1) are causative for severe forms of autism spectrum disorder that are often comorbid with intellectual disability. Recent work has begun to reveal an important role for FoxP1 in brain development, but the brain-region-specific contributions of Foxp1 to autism and intellectual disability phenotypes have yet to be fully determined. Here, we describe Foxp1 conditional knockout (Foxp1(cKO) ) male and female mice with loss of Foxp1 in the pyramidal neurons of the neocortex and the CA1/CA2 subfields of the hippocampus...
October 4, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28973142/association-of-sex-with-recurrence-of-autism-spectrum-disorder-among-siblings
#18
Nathan Palmer, Andrew Beam, Denis Agniel, Alal Eran, Arjun Manrai, Claire Spettell, Gregory Steinberg, Kenneth Mandl, Kathe Fox, Stanley F Nelson, Isaac Kohane
Importance: Autism spectrum disorder (ASD) is known to be more prevalent among males than females in the general population. Although overall risk of recurrence of ASD among siblings has been estimated to be between 6.1% and 24.7%, information on sex-specific recurrence patterns is lacking. Objective: To estimate high-confidence sex-specific recurrence rates of ASD among siblings. Design, Setting, and Participants: This observational study used an administrative database to measure the incidence of ASD among children in 1 583 271 families (37 507 with at least 1 diagnosis of ASD) enrolled in commercial health care insurance plans at a large US managed health care company from January 1, 2008, through February 29, 2016...
September 25, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28964733/effects-of-maternal-or-paternal-bisphenol-a-exposure-on-offspring-behavior
#19
Erin P Harris, Heather A Allardice, A Katrin Schenk, Emilie F Rissman
Bisphenol A (BPA) is an endocrine disrupting chemical used in the production of polycarbonate plastics and resins. Exposure to BPA during gestation has been proposed as a risk factor for the development of neurobehavioral disorders, such as autism spectrum disorder. To address the behavioral impact of developmental exposure to BPA, we tested offspring of mice exposed to a daily low dose of BPA during pregnancy. We also asked if preconception exposure of the sire affected behaviors in offspring. Sires that consumed BPA for 50days prior to mating weighed less than controls, but no effects on any reproductive measures were noted...
October 4, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/28963436/novel-nr2f1-variants-likely-disrupt-dna-binding-molecular-modeling-in-two-cases-review-of-published-cases-genotype-phenotype-correlation-and-phenotypic-expansion-of-the-bosch-boonstra-schaaf-optic-atrophy-syndrome
#20
Charu Kaiwar, Michael T Zimmerman, Matthew J Ferber, Zhiyv Niu, Raul A Urrutia, Eric W Klee, Dusica Babovic-Vuksanovic
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity and thinning of the corpus callosum. Here we report two unrelated probands with novel, de novo, missense variants in NR2F1 The first is a 14-year-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels on CSF testing...
September 28, 2017: Cold Spring Harbor Molecular Case Studies
keyword
keyword
76518
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"