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Autism spectrum disorder females

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https://www.readbyqxmd.com/read/28208013/sex-differences-in-autism-like-behavioral-phenotypes-and-postsynaptic-receptors-expression-in-the-prefrontal-cortex-of-tert-transgenic-mice
#1
Ki Chan Kim, Kyu Suk Cho, Sung Min Yang, Edson Luck Gonzales, Schley Valencia, Pyeong Hwa Eun, Chang Soon Choi, Darine Froy Mabunga, Ji-Woon Kim, Judy Kyoungju Noh, Hee Jin Kim, Se Jin Jeon, Seol-Heui Han, Geon Ho Bahn, Chan Young Shin
Autism spectrum disorder (ASD) remains unexplained and untreated despite the high attention of research in recent years. Aside from its various characteristics is the baffling male preponderance over the female population. Using a validated animal model of ASD which is the telomerase reverse transcriptase overexpressing mice (TERT-tg), we conducted ASD-related behavioral assessments and protein expression experiments to mark the difference between male and females of this animal model. After statistically analyzing the results, we found significant effects of TERT overexpression in sociability, social novelty preference, anxiety, nest building, and electroseizure threshold in the males but not their female littermates...
February 17, 2017: Biomolecules & Therapeutics
https://www.readbyqxmd.com/read/28196230/association-between-the-probability-of-autism-spectrum-disorder-and-normative-sex-related-phenotypic-diversity-in-brain-structure
#2
Christine Ecker, Derek S Andrews, Christina M Gudbrandsen, Andre F Marquand, Cedric E Ginestet, Eileen M Daly, Clodagh M Murphy, Meng-Chuan Lai, Michael V Lombardo, Amber N V Ruigrok, Edward T Bullmore, John Suckling, Steven C R Williams, Simon Baron-Cohen, Michael C Craig, Declan G M Murphy
Importance: Autism spectrum disorder (ASD) is 2 to 5 times more common in male individuals than in female individuals. While the male preponderant prevalence of ASD might partially be explained by sex differences in clinical symptoms, etiological models suggest that the biological male phenotype carries a higher intrinsic risk for ASD than the female phenotype. To our knowledge, this hypothesis has never been tested directly, and the neurobiological mechanisms that modulate ASD risk in male individuals and female individuals remain elusive...
February 8, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28187695/learning-about-the-lived-experiences-of-women-with-autism-from-an-online-community
#3
Jolynn L Haney, Jennifer A Cullen
The experience of being an adult female with an autism spectrum disorder (ASD) has been understudied in social work literature. The purpose of this study was to develop an understanding of females with ASD, from their perspective, by examining content from an online autism community Web site. Using a phenomenological approach, data analysis on content obtained from the forum revealed several themes about the women's experiences concerning the diagnostic process, managing and understanding symptoms, and the impact of ASD on their personal and work relationships...
January 2017: Journal of Social Work in Disability & Rehabilitation
https://www.readbyqxmd.com/read/28184278/possible-sexually-dimorphic-role-of-mirna-and-other-sncrna-in-asd-brain
#4
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/28178201/rett-syndrome-a-focus-on-gut-microbiota
#5
Elisa Borghi, Francesca Borgo, Marco Severgnini, Miriam Nella Savini, Maria Cristina Casiraghi, Aglaia Vignoli
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder affecting 1 in 10,000 live female births. Changes in microbiota composition, as observed in other neurological disorders such as autism spectrum disorders, may account for several symptoms typically associated with RTT. We studied the relationship between disease phenotypes and microbiome by analyzing diet, gut microbiota, and short-chain fatty acid (SCFA) production. We enrolled eight RTT patients and 10 age- and sex-matched healthy women, all without dietary restrictions...
February 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28166277/ketogenic-diet-improves-behaviors-in-a-maternal-immune-activation-model-of-autism-spectrum-disorder
#6
David N Ruskin, Michelle I Murphy, Sierra L Slade, Susan A Masino
Prenatal factors influence autism spectrum disorder (ASD) incidence in children and can increase ASD symptoms in offspring of animal models. These may include maternal immune activation (MIA) due to viral or bacterial infection during the first trimesters. Unfortunately, regardless of ASD etiology, existing drugs are poorly effective against core symptoms. For nearly a century a ketogenic diet (KD) has been used to treat seizures, and recent insights into mechanisms of ASD and a growing recognition that immune/inflammatory conditions exacerbate ASD risk has increased interest in KD as a treatment for ASD...
2017: PloS One
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
#7
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/28120263/investigation-of-autism-spectrum-disorder-and-autistic-traits-in-an-adolescent-sample-with-anorexia-nervosa
#8
Valentina Postorino, Lawrence Scahill, Lavinia De Peppo, Laura Maria Fatta, Valeria Zanna, Maria Chiara Castiglioni, Scott Gillespie, Stefano Vicari, Luigi Mazzone
This study aimed to examine the presence of Autism Spectrum Disorder (ASD) in a sample of female adolescents with Anorexia Nervosa (AN) during the acute phase of illness. We also compare the level of autistic traits, social perception skills and obsessive-compulsive symptoms in four groups: AN, ASD, and two gender- and age-matched control groups. Of the 30 AN participants, only three scored above the conventional ADOS-2 threshold for ASD. The AN participants were similar to their controls on autistic trait measures, and to the ASD group on obsessive-compulsive measures, and on theory of mind ability and affect recognition measures...
January 24, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28118382/integrative-variation-analysis-reveals-that-a-complex-genotype-may-specify-phenotype-in-siblings-with-syndromic-autism-spectrum-disorder
#9
Viviane Neri de Souza Reis, João Paulo Kitajima, Ana Carolina Tahira, Ana Cecília Feio-Dos-Santos, Rodrigo Ambrósio Fock, Bianca Cristina Garcia Lisboa, Sérgio Nery Simões, Ana C V Krepischi, Carla Rosenberg, Naila Cristina Lourenço, Maria Rita Passos-Bueno, Helena Brentani
It has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other genetic changes, contribute to the heterogeneity of ASD phenotypes. Array comparative genomic hybridization (aCGH) and exome sequencing, together with systems genetics and network analyses, are being used as tools for the study of complex disorders of unknown etiology, especially those characterized by significant genetic and phenotypic heterogeneity. Therefore, to characterize the complex genotype-phenotype relationship, we performed aCGH and sequenced the exomes of two affected siblings with ASD symptoms, dysmorphic features, and intellectual disability, searching for de novo CNVs, as well as for de novo and rare inherited point variations-single nucleotide variants (SNVs) or small insertions and deletions (indels)-with probable functional impacts...
2017: PloS One
https://www.readbyqxmd.com/read/28115996/genotype-and-sex-dependent-effects-of-altered-cntnap2-expression-on-the-function-of-visual-cortical-areas
#10
Leah B Townsend, Spencer L Smith
BACKGROUND: Autism spectrum disorder (ASD) is a heritable, heterogeneous neurodevelopmental disorder that is four times more likely to affect males than females. Despite this overt sex bias, it is unclear how genetic mutations associated with ASD alter cortical circuitry to produce the behavioral phenotypes by which ASD is diagnosed. Contactin-associated protein-like 2 (CNTNAP2) is an ASD-associated gene, and while Cntnap2 knockout (KO) mice recapitulate many of the features of ASD, the effect on cortical circuitry is poorly understood...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28112456/the-effect-of-age-sex-and-clinical-features-on-the-volume-of-corpus-callosum-in-pre-schoolers-with-autism-spectrum-disorder-a-case-control-study
#11
Alessia Giuliano, Irene Saviozzi, Paolo Brambilla, Filippo Muratori, Alessandra Retico, Sara Calderoni
A growing body of literature has identified volume alterations of the corpus callosum (CC) in subjects with autism spectrum disorders (ASD). However, to date very few investigations have been conducted on preschool-age ASD children. This study aims to compare the volume of CC and its sub-regions between pre-schoolers with ASD and controls (CON) and to examine their relationship to demographic and clinical variables (sex, age, non-verbal IQ -NVIQ-, expressive non-echolalic language, emotional and behavioural problems, and autism severity)...
January 23, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28087836/neuropathological-consequences-of-gestational-exposure-to-concentrated-ambient-fine-and-ultrafine-particles-in-the-mouse
#12
Carolyn Klocke, Joshua L Allen, Marissa Sobolewski, Margot Mayer-Pröschel, Jason L Blum, Dana Lauterstein, Judith T Zelikoff, Deborah A Cory-Slechta
Increasing evidence indicates that the central nervous system (CNS) is a target of air pollution. We previously reported that postnatal exposure of mice to concentrated ambient ultrafine particles (UFP; ≤100nm) via the University of Rochester HUCAPS system during a critical developmental window of CNS development, equivalent to human 3(rd) trimester, produced male-predominant neuropathological and behavioral characteristics common to multiple neurodevelopmental disorders, including autism spectrum disorder (ASD), in humans...
January 13, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#13
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28070789/priming-facial-gender-and-emotional-valence-the-influence-of-spatial-frequency-on-face-perception-in-asd
#14
Steven Vanmarcke, Johan Wagemans
Adolescents with and without autism spectrum disorder (ASD) performed two priming experiments in which they implicitly processed a prime stimulus, containing high and/or low spatial frequency information, and then explicitly categorized a target face either as male/female (gender task) or as positive/negative (Valence task). Adolescents with ASD made more categorization errors than typically developing adolescents. They also showed an age-dependent improvement in categorization speed and had more difficulties with categorizing facial expressions than gender...
January 9, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28031551/a-two-phase-case-control-study-of-autism-risk-among-children-born-from-the-late-1990s-through-the-early-2000s-in-the-united-states
#15
David A Geier, Janet K Kern, Mark R Geier
BACKGROUND This study evaluated the hypothesis that the 1999 recommendation by the American Academy of Pediatrics (AAP) and US Public Health Service (PHS) to reduce exposure to mercury (Hg) from Thimerosal in US vaccines would be associated with a reduction in the long-term risk of being diagnosed with autism. MATERIAL AND METHODS A two-phase assessment utilizing a case (n=73) -control (n=11,783) study in the Vaccine Adverse Event Reporting System (VAERS) database (for hypothesis generating) and a more rigorous, independent matched case (n=40) -control (n=40) study (hypothesis testing) was undertaken...
December 29, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28018676/increased-serum-levels-of-tumor-necrosis-factor-alpha-resistin-and-visfatin-in-the-children-with-autism-spectrum-disorders-a-case-control-study
#16
Mohammad Ali Ghaffari, Elham Mousavinejad, Forough Riahi, Masoumeh Mousavinejad, Mohammad Reza Afsharmanesh
Background. Autism spectrum disorders (ASDs) are complex disorders where the pathogenesis is not fully understood. Several proinflammatory and immunoinflammatory disturbances have been observed in the etiology of ASD. There is, however, limited knowledge on variations of adipokines in ASD. The present study aimed to analyze the serum levels of resistin, visfatin, and tumor necrosis factor-alpha (TNF-α) in children with ASD in relation to body weight, gender, and ASD severity level. Method. In total, 30 children with ASD (mean age: 7...
2016: Neurology Research International
https://www.readbyqxmd.com/read/27993230/trends-in-antipsychotic-prescribing-in-medicaid-eligible-youth
#17
Gail A Edelsohn, Irina Karpov, Meghna Parthasarathy, Shari L Hutchison, Kim Castelnovo, Jaswinder Ghuman, James M Schuster
OBJECTIVE: To examine trends in the use of antipsychotic medication in Medicaid-eligible youth from 2008 to 2013 and the factors associated with this use. METHOD: Youth aged 0 to 17 years with at least one claim indicating antipsychotic medication use were identified from the network of a behavioral health managed care organization (BHMCO). Demographic and clinical variables were derived from state eligibility data and service claims data from the BHMCO. Overall and specific prevalence rates of antipsychotic drug use were calculated over the course of 6 years (2008-2013)...
January 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/27983596/estrogenic-endocrine-disrupting-chemicals-influencing-nrf1-regulated-gene-networks-in-the-development-of-complex-human-brain-diseases
#18
REVIEW
Mark Preciados, Changwon Yoo, Deodutta Roy
During the development of an individual from a single cell to prenatal stages to adolescence to adulthood and through the complete life span, humans are exposed to countless environmental and stochastic factors, including estrogenic endocrine disrupting chemicals. Brain cells and neural circuits are likely to be influenced by estrogenic endocrine disruptors (EEDs) because they strongly dependent on estrogens. In this review, we discuss both environmental, epidemiological, and experimental evidence on brain health with exposure to oral contraceptives, hormonal therapy, and EEDs such as bisphenol-A (BPA), polychlorinated biphenyls (PCBs), phthalates, and metalloestrogens, such as, arsenic, cadmium, and manganese...
December 13, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27976757/efficient-and-versatile-crispr-engineering-of-human-neurons-in-culture-to-model-neurological-disorders
#19
Ruth R Shah, Justyna Cholewa-Waclaw, Faith C J Davies, Katie M Paton, Ronan Chaligne, Edith Heard, Catherine M Abbott, Adrian P Bird
The recent identification of multiple new genetic causes of neurological disorders highlights the need for model systems that give experimental access to the underlying biology. In particular, the ability to couple disease-causing mutations with human neuronal differentiation systems would be beneficial. Gene targeting is a well-known approach for dissecting gene function, but low rates of homologous recombination in somatic cells (including neuronal cells) have traditionally impeded the development of robust cellular models of neurological disorders...
November 15, 2016: Wellcome Open Res
https://www.readbyqxmd.com/read/27929321/social-communication-questionnaire-scoring-procedures-for-autism-spectrum-disorder-and-the-prevalence-of-potential-social-communication-disorder-in-asd
#20
Lucy Barnard-Brak, David M Richman, Steven Randall Chesnut, Todd D Little
In analyzing data from the National Database for Autism Research, we utilized Mokken scaling techniques as a means of creating a more effective and efficient screening procedure for autism spectrum disorder (ASD) via the Social Communication Questionnaire (SCQ). With a sample of 1,040, approximately 80% (n = 827) of the sample were males while approximately 20% (n = 213) were females. In regard to ethnicity, approximately 68% of the sample were White/Caucasian, while 7% were African American, 16% were Hispanic, 4% were Asian, and 1% were Native American or American Indian...
December 2016: School Psychology Quarterly
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