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https://www.readbyqxmd.com/read/28931914/high-resolution-analysis-of-rare-copy-number-variants-in-patients-with-autism-spectrum-disorder-from-taiwan
#1
Chia-Hsiang Chen, Hsin-I Chen, Wei-Hsien Chien, Ling-Hui Li, Yu-Yu Wu, Yen-Nan Chiu, Wen-Che Tsai, Susan Shur-Fen Gau
Rare genomic copy number variations (CNVs) (frequency <1%) contribute a part to the genetic underpinnings of autism spectrum disorders (ASD). The study aimed to understand the scope of rare CNV in Taiwanese patients with ASD. We conducted a genome-wide CNV screening of 335 ASD patients (299 males, 36 females) from Taiwan using Affymetrix Genome-Wide Human SNP Array 6.0 and compared the incidence of rare CNV with that of 1093 control subjects (525 males, 568 females). We found a significantly increased global burden of rare CNVs in the ASD group compared to the controls as a whole or when the rare CNVs were classified by the size and types of CNV...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931434/long-term-outcome-of-autistic-spectrum-disorder-a-retrospective-case-study-in-a-southern-italian-region
#2
Francesca Felicia Operto, Federica Martino, Annalisa Rinaldi, Angelo Cerracchio, Giovanni Salvati, Mariano Orza, Claudia Lembo, Gianvito Panzarino, Claudia Di Paolantonio, Alberto Verrotti, Giovanni Farello, Giangennaro Coppola
BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder, characterized by impaired social communication and restricted and repetitive behaviours, as well as associated features including intellectual disability and impaired sensorimotor function. Despite a growing interest in this devastating disorder for families and young parents, there are no certainties as regards its aetiology, although a significant genetic background is considered to be important. Since there is little information about the social adaptation and quality of life of patients with Autism Spectrum Disorder, we decided to study and evaluate the long-term outcome and quality of life in a sample of children, adolescent and young adults...
September 20, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28929487/school-connectedness-and-the-primary-to-secondary-school-transition-for-young-people-with-autism-spectrum-conditions
#3
Judith S Hebron
BACKGROUND: Young people with autism spectrum conditions (ASC) face many educational challenges, particularly in terms of academic achievement, social inclusion, and mental health. School connectedness is linked to many positive outcomes and may be of particular salience at the primary-secondary school transition, when young people with ASC are expected to cope in new and unfamiliar settings. AIMS: This study explores for the first time school connectedness across the primary to secondary school transition for young people with ASC...
September 20, 2017: British Journal of Educational Psychology
https://www.readbyqxmd.com/read/28923433/the-association-between-symptoms-of-autism-and-neuropsychological-performance-in-females-with-anorexia-nervosa
#4
Heather Westwood, William Mandy, Kate Tchanturia
The aim of this study was to investigate the relationship between symptoms of autism spectrum disorder (ASD) and performance on measures of set-shifting and central coherence in a sample of females with anorexia nervosa (AN). Ninety-nine females aged 12-47, recruited from inpatient and day patient eating disorder services, were assessed with the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2), as well as the Wechsler Abbreviated Scale of Intelligence, 2nd edition (WASI-II); Wisconsin Card Sorting Test (WCST); Rey-Osterrieth Complex Figure Test (ROCFT) and self-report questionnaires assessing eating disorder pathology, depression, cognitive rigidity and attention to detail...
September 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28923356/subcutaneous-injections-of-aluminum-at-vaccine-adjuvant-levels-activate-innate-immune-genes-in-mouse-brain-that-are-homologous-with-biomarkers-of-autism
#5
Dan Li, Lucija Tomljenovic, Yongling Li, Christopher A Shaw
Autism is a neurobehavioral disorder characterized by immune dysfunction. It is manifested in early childhood, during a window of early developmental vulnerability where the normal developmental trajectory is most susceptible to xenobiotic insults. Aluminum (Al) vaccine adjuvants are xenobiotics with immunostimulating and neurotoxic properties to which infants worldwide are routinely exposed. To investigate Al's immune and neurotoxic impact in vivo, we tested the expression of 17 genes which are implicated in both autism and innate immune response in brain samples of Al-injected mice in comparison to control mice...
September 5, 2017: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/28919554/revisiting-the-wandering-womb-oxytocin-in-endometriosis-and-bipolar-disorder
#6
REVIEW
Natalie L Dinsdale, Bernard J Crespi
Hippocrates attributed women's high emotionality - hysteria - to a 'wandering womb'. Although hysteria diagnoses were abandoned along with the notion that displaced wombs cause emotional disturbance, recent research suggests that elevated levels of oxytocin occur in both bipolar disorder and endometriosis, a gynecological condition involving migration of endometrial tissue beyond the uterus. We propose and evaluate the hypothesis that elevated oxytocinergic system activity jointly contributes to bipolar disorder and endometriosis...
September 19, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/28914731/academic-developmental-behavioral-pediatric-faculty-at-developmental-behavioral-pediatric-research-network-sites-changing-composition-and-interests
#7
Nancy Roizen, Ruth E K Stein, Ellen J Silver, Pamela High, Marilyn C Augustyn, Nathan J Blum
OBJECTIVE: To obtain and review workforce data, given the critical demand for developmental pediatricians (DPs). METHODS: Survey of demographics and professional activities of DP physician faculty at Developmental-Behavioral Pediatric (DBP) Research Network fellowship training sites. RESULTS: Of the eligible providers at 12 centers, 76% (n = 50) completed surveys. They were on average 50 years old and mostly female (86%), white (82%), and working full time (74%)...
September 7, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28914080/gender-identity-and-sexual-orientation-in-autism-spectrum-disorder
#8
Rita George, Mark A Stokes
Clinical impressions indicate that there is an overrepresentation of gender-dysphoria within the autism spectrum disorder. However, little is presently known about the demographics of gender-identity issues in autism spectrum disorder. Based upon what little is known, we hypothesized that there would be an increased prevalence of gender-dysphoria among those with autism spectrum disorder compared to a typically developing population. We surveyed gender-dysphoria with the Gender-Identity/Gender-Dysphoria Questionnaire among 90 males and 219 females with autism spectrum disorder and compared these rates to those of 103 males and 158 females without autism spectrum disorder...
September 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28902840/maternal-gut-bacteria-promote-neurodevelopmental-abnormalities-in-mouse-offspring
#9
Sangdoo Kim, Hyunju Kim, Yeong Shin Yim, Soyoung Ha, Koji Atarashi, Tze Guan Tan, Randy S Longman, Kenya Honda, Dan R Littman, Gloria B Choi, Jun R Huh
Maternal immune activation (MIA) contributes to behavioural abnormalities associated with neurodevelopmental disorders in both primate and rodent offspring. In humans, epidemiological studies suggest that exposure of fetuses to maternal inflammation increases the likelihood of developing autism spectrum disorder. In pregnant mice, interleukin-17a (IL-17a) produced by T helper 17 (TH17) cells (CD4(+) T helper effector cells involved in multiple inflammatory conditions) induces behavioural and cortical abnormalities in the offspring exposed to MIA...
September 13, 2017: Nature
https://www.readbyqxmd.com/read/28900768/maternal-and-paternal-infertility-disorders-and-treatments-and-autism-spectrum-disorder-findings-from-the-study-to-explore-early-development
#10
Laura A Schieve, Carolyn Drews-Botsch, Shericka Harris, Craig Newschaffer, Julie Daniels, Carolyn DiGuiseppi, Lisa A Croen, Gayle C Windham
Previous studies of associations between ASD and conception using assisted reproductive technology (ART) are inconsistent and few studies have examined associations with other infertility treatments or infertility disorders. We examined associations between ASD and maternal/paternal infertility disorders and numerous maternal treatments among 1538 mother-child pairs in the Study to Explore Early Development, a population-based case-control study. ASD was associated with any female infertility diagnosis and several specific diagnoses: blocked tubes, endometriosis, uterine-factor infertility, and polycystic ovarian syndrome...
September 12, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28900354/knowledge-attitudes-beliefs-and-practices-of-occupational-physicians-towards-seasonal-influenza-vaccination-a-cross-sectional-study-from-north-eastern-italy
#11
REVIEW
M Riccò, S Cattani, F Casagranda, G Gualerzi, C Signorelli
INTRODUCTION: The present study aims to characterize personal attitudes and knowledge of a sample of Italian Occupational Physicians (OPh) towards Seasonal Influenza Vaccine (SIV) in healthcare workers (HCWs). METHODS: In total, 92 OPh (42.4% males, 57.6% females, mean age of 47.3 ± 10.4 years, 50 specialists in Occupational Medicine, 42 specialists in Hygiene and Public Health) were asked about their attitudes towards influenza vaccine, their general knowledge of vaccine practice, their propensity towards vaccines and, eventually, their risk perception about the influenza and influenza vaccine was investigated...
June 2017: Journal of Preventive Medicine and Hygiene
https://www.readbyqxmd.com/read/28898924/prevalence-of-autism-spectrum-disorders-with-and-without-intellectual-disability-by-gestational-age-at-birth-in-the-stockholm-youth-cohort-a-register-linkage-study
#12
Sherlly Xie, Hein Heuvelman, Cecilia Magnusson, Dheeraj Rai, Kristen Lyall, Craig J Newschaffer, Christina Dalman, Brian K Lee, Kathryn Abel
BACKGROUND: Preterm birth has been linked to increased risk of autism spectrum disorders (ASD), but how this risk changes with gestational age at birth has not been well characterised, especially with regard to co-occurring intellectual disability (ID). METHODS: Register-based cohort study of singleton births in 1984-2007 in Stockholm County, Sweden (N total: 480 728; n ASD: 10 025). We assessed overall and sex-specific, gestational week-specific prevalence estimates and risk ratios of ASD with and without ID...
September 12, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28895873/prenatal-serum-concentrations-of-brominated-flame-retardants-and-autism-spectrum-disorder-and-intellectual-disability-in-the-early-markers-of-autism-study-a-population-based-case-control-study-in-california
#13
Kristen Lyall, Lisa A Croen, Lauren A Weiss, Martin Kharrazi, Michela Traglia, Gerald N Delorenze, Gayle C Windham
BACKGROUND: Prior studies suggest neurodevelopmental impacts of polybrominated diphenyl ethers (PBDEs), but few have examined diagnosed developmental disorders. OBJECTIVES: Our aim was to determine whether prenatal exposure to brominated flame retardants (BFRs) is associated with autism spectrum disorder (ASD) or intellectual disability without autism (ID). METHODS: We conducted a population-based case-control study including children with ASD (n=545) and ID (n=181) identified from the California Department of Developmental Services and general population (GP) controls (n=418) from state birth certificates...
August 30, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28891930/vitamin-d-receptor-gene-polymorphisms-associated-with-childhood-autism
#14
Anna Cieślińska, Elżbieta Kostyra, Barbara Chwała, Małgorzata Moszyńska-Dumara, Ewa Fiedorowicz, Małgorzata Teodorowicz, Huub F J Savelkoul
BACKGROUND: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D₃ has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene...
September 9, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28890778/yawning-detection-sensitivity-and-yawning-contagion
#15
Meingold H M Chan, Chia-Huei Tseng
Contagious yawning-the urge to yawn when thinking about, listening to, or viewing yawning-is a well-documented phenomenon in humans and animals. The reduced yawn contagion observed in the autistic population suggested that it might be empathy related; however, it is unknown whether such a connection applies to nonclinical populations. We examined influences from both empathy (i.e., autistic traits) and nonempathy factors (i.e., individuals' perceptual detection sensitivity to yawning, happy, and angry faces) on 41 nonclinical adults...
July 2017: I-Perception
https://www.readbyqxmd.com/read/28875615/prescription-trends-of-psychotropics-in-children-and-adolescents-with-autism-based-on-nationwide-health-insurance-data
#16
Minha Hong, Seung Yup Lee, Juhee Han, Jin Cheol Park, Yeon Jung Lee, Ram Hwangbo, Hyejung Chang, Seong Woo Cho, Soo Young Bhang, Bongseog Kim, Jun Won Hwang, Geon Ho Bahn
Children with autism are often medicated to manage emotional and behavioral symptoms; yet, data on such pharmacotherapy is insufficient. In this study, we investigated the Korean National Health Insurance Claims Database (NHICD) information related to autism incidence and psychotropic medication use. From the 2010-2012 NHICD, we selected a total of 31,919,732 subjects under 19 years old. To examine the diagnostic incidence, we selected patients who had at least one medical claim containing an 10th revision of International Statistical Classification of Diseases and Related Health Problems (ICD-10) code for pervasive developmental disorder, F84, not diagnosed in the previous 360 days...
October 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28873419/gender-and-autistic-traits-modulate-implicit-motor-synchrony
#17
Miao Cheng, Masaharu Kato, Chia-Huei Tseng
Interpersonal motor synchrony during walking or dancing is universally observed across cultures, and this joint movement was modulated by physical and social parameters. However, human interactions are greatly shaped by our unique traits, and self-related factors are surprisingly little studied in the context of interpersonal motor synchrony. In this study, we investigated two such factors known to be highly associated with motor coordination: gender and autistic traits. We employed a real-world task extending our understanding beyond laboratory tasks...
2017: PloS One
https://www.readbyqxmd.com/read/28869354/working-memory-network-alterations-in-high-functioning-adolescents-with-an-autism-spectrum-disorder
#18
Evelien M Barendse, Lisanne J Schreuder, Geert Thoonen, Marc P H Hendriks, Roy P C Kessels, Walter H Backes, Albert P Aldenkamp, Jacobus F A Jansen
AIM: People with autism spectrum disorder (ASD) typically have deficits in the working memory (WM) system. Working memory is found to be an essential chain in successfully navigating in the social world. We hypothesize that brain networks for WM have an altered network integrity in ASD compared to controls. METHODS: 13 adolescents (1 female) with autistic disorder (n = 1), Asperger's disorder (n = 7), and pervasive developmental disorder not otherwise specified (n = 5), and 13 typically developing control adolescents (1 female) participated in this study...
September 4, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28866801/recent-advances-in-assays-for-the-fragile-x-related-disorders
#19
REVIEW
Bruce E Hayward, Daman Kumari, Karen Usdin
The fragile X-related disorders are a group of three clinical conditions resulting from the instability of a CGG-repeat tract at the 5' end of the FMR1 transcript. Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are disorders seen in carriers of FMR1 alleles with 55-200 repeats. Female carriers of these premutation (PM) alleles are also at risk of having a child who has an FMR1 allele with >200 repeats. Most of these full mutation (FM) alleles are epigenetically silenced resulting in a deficit of the FMR1 gene product, FMRP...
September 2, 2017: Human Genetics
https://www.readbyqxmd.com/read/28856494/typical-pubertal-timing-in-an-australian-population-of-girls-and-boys-with-autism-spectrum-disorder
#20
Tamara May, Ken C Pang, Michele A O'Connell, Katrina Williams
Secondary data analyses from the Longitudinal Study of Australian Children Kindergarten cohort were performed to understand any alterations in pubertal timing in Autism Spectrum Disorder (ASD) in a population sample. Timing of parent-reported pubertal events (ages 8-9, 10-11, 12-13 years), and self-report (14-15 years; N = 3454 no ASD, N = 94 with ASD) included breast development, menses, skin changes, growth spurt, body hair, deepening voice and facial hair. Survival analyses and Cox regression controlling for covariates showed no evidence of altered pubertal onset amongst males with ASD...
August 30, 2017: Journal of Autism and Developmental Disorders
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