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https://www.readbyqxmd.com/read/29450837/associations-between-the-2nd-to-4th-digit-ratio-and-autism-spectrum-disorder-in-population-based-samples-of-boys-and-girls-findings-from-the-study-to-explore-early-development
#1
Laura A Schieve, Lin Tian, Nicole Dowling, Lisa Croen, Julie Hoover-Fong, Aimee Alexander, Stuart K Shapira
The ratio of the index (2nd) finger to ring (4th) finger lengths (2D:4D) is a proxy for fetal testosterone and estradiol. Studies suggesting 2D:4D is inversely associated with autism spectrum disorder (ASD) in males were limited by lack of confounder and subgroup assessments. Studies of females are sparse. We examined associations between ASD and 2D:4D among children in the Study to Explore Early Development; we considered case subgroups and numerous potential demographic and maternal-perinatal health confounders...
February 15, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29427782/transcriptional-and-splicing-dysregulation-in-the-prefrontal-cortex-in-valproic-acid-rat-model-of-autism
#2
Ruoxin Zhang, Jinlong Zhou, Junrong Ren, Siqi Sun, Yuanyuan Di, Hanyu Wang, Xiaoqin An, Kexin Zhang, Junfeng Zhang, Zhaoqiang Qian, Meimei Shi, Yanning Qiao, Wei Ren, Yingfang Tian
Gene-environmental interaction could be the major cause of autism. The aim of the current study is to detect the effects of valproic acid on gene expression profiles and alternatively spliced genes in the prefrontal cortex in rat models of autism. Female rats received a single intraperitoneal injection of 600 mg/kg valproic acid at day 12.5 post-conception, and controls were injected with saline. Only male offspring were employed in the current study. RNA sequencing was used to investigate transcriptome in the prefrontal cortex of VPA-exposed rats...
February 7, 2018: Reproductive Toxicology
https://www.readbyqxmd.com/read/29427546/special-interests-and-subjective-wellbeing-in-autistic-adults
#3
Rachel Grove, Rosa A Hoekstra, Marlies Wierda, Sander Begeer
Special interests form part of the core features of autism. However, to date there has been limited research focusing on the role of special interests in the lives of autistic adults. This study surveyed autistic adults on their special interest topics, intensity, and motivation. It also assessed the relationship between special interests and a range of quality of life measures including subjective wellbeing and domain specific life satisfaction. About two thirds of the sample reported having a special interest, with relatively more males reporting a special interest than females...
February 10, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29427542/school-dysfunction-in-youth-with-autistic-spectrum-disorder-in-taiwan-the-effect-of-subtype-and-adhd
#4
Huey-Ling Chiang, Wei-Chih Kao, Mei-Chun Chou, Wen-June Chou, Yen-Nan Chiu, Yu-Yu Wu, Susan Shur-Fen Gau
School dysfunction is observed in youths with autism spectrum disorder (ASD), but the factors moderating their school dysfunction have not been well explored. This study investigated school functions in youths with ASD in Taiwan, stratified by personal characteristics including demographics, ASD subtypes, intelligence profiles, and the presence of attention-deficit hyperactivity disorder (ADHD). We recruited 160 youths (aged 6-18 years, 87.5% boys) with a clinical diagnosis of ASD and 160 age and gender-matched typically developing (TD) youths...
February 10, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29427119/the-co-occurrence-of-gender-dysphoria-and-autism-spectrum-disorder-in-adults-an-analysis-of-cross-sectional-and-clinical-chart-data
#5
Gunter Heylens, Lore Aspeslagh, Jesper Dierickx, Kariann Baetens, Birgit Van Hoorde, Griet De Cuypere, Els Elaut
Quantitative studies indicate an overrepresentation of ASD in individuals with GD. This study aims to determine the prevalence of autistic traits or ASD in adults with GD using two different data collection methods: (1) cross-sectional data using the social responsiveness scale-adults (SRS-A) and the autism quotient (AQ) (n = 63). (2) Clinical chart data (n = 532). Mean SRS-A scores were significantly higher compared to a norm population. Almost 5% of the patients with GD scored above the cut-off as measured by the AQ...
February 9, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29425919/the-visible-burrow-system-a-behavioral-paradigm-to-assess-sociability-and-social-withdrawal-in-btbr-and-c57bl-6j-mice-strains
#6
Maria Bove, Kevin Ike, Adriaan Eldering, Bauke Buwalda, Sietse F de Boer, Maria Grazia Morgese, Stefania Schiavone, Vincenzo Cuomo, Luigia Trabace, Martien J H Kas
Disrupted sociability and consequent social withdrawal are (early) symptoms of a wide variety of neuropsychiatric diseases, such as schizophrenia, autism spectrum disorders, depressive disorders and Alzheimer's disease. The paucity of objective measures to translationally assess social withdrawal characteristics has been an important limitation to study this behavioral phenotype, both in human and rodents. The aim of the present study was to investigate sociability and social withdrawal in rodents using an ethologically valid behavioral paradigm, the Visible Burrow System (VBS)...
February 6, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29423603/sex-differences-in-children-referred-for-assessment-an-exploratory-analysis-of-the-autism-mental-status-exam-amse
#7
Roald A Øien, Sara M Vambheim, Logan Hart, Anders Nordahl-Hansen, Craig Erickson, Logan Wink, Martin R Eisemann, Frederick Shic, Fred R Volkmar, David Grodberg
The autism mental status exam is an eight-item observational assessment that structures the way we observe and document signs and symptoms of ASD. Investigations of test performance indicate strong sensitivity and specificity using gold-standard assessment as reference standard. This study aims to explore potential sex differences in AMSE test performance and observations of 123 children referred for autism assessment. Results indicates more language deficits in females with ASD than in males with ASD and less sensory symptoms in females compared to males with ASD...
February 8, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29416845/ehmt1-mosaicism-in-apparently-unaffected-parents-is-associated-with-autism-spectrum-disorder-and-neurocognitive-dysfunction
#8
Anneke de Boer, Karlijn Vermeulen, Jos I M Egger, Joost G E Janzing, Nicole de Leeuw, Hermine E Veenstra-Knol, Nicolette S den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra
Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29416695/association-between-hypertensive-disorders-of-pregnancy-and-risk-of-autism-in-offspring-a-systematic-review-and-meta-analysis-of-observational-studies
#9
Ruo-Ting Xu, Qing-Xian Chang, Qi-Qiong Wang, Jian Zhang, Lai-Xin Xia, Nanbert Zhong, Yan-Hong Yu, Mei Zhong, Qi-Tao Huang
Background: Autism spectrum disorder (ASD) is a common severe pervasive neurodevelopmental disorder of undetermined etiology. Environmental exposures, especially pregnancy complications, have been increasingly recognized as a potential risk factor for ASD. Our aim was to (1) systematically evaluate the association between hypertensive disorders of pregnancy (HDP) and the risk of ASD in offspring, (2) specifically draw a subgroup analysis of disease severity in patients with HDP to achieve more sufficient evidence on this issue...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29414026/bdnf-levels-are-associated-with-autistic-traits-in-the-general-population
#10
Natascia Brondino, Laura Fusar-Poli, Matteo Rocchetti, Federico Bertoglio, Nora Bloise, Livia Visai, Pierluigi Politi
Evidence supports the notion that autistic symptoms and behaviors should be regarded as dimensional traits. The present study aimed to investigate the role of vasopressin (AVP), brain-derived neurotrophic factor (BDNF) and oxytocin (OXT) as potential biochemical correlates of subclinical autistic traits in a cohort of healthy young adults. One hundred and fifty-three subjects (80 males, 73 females) were recruited. Participants completed the Autism Spectrum Quotient (AQ), a widely used measure for the identification of autistic traits in the general population...
January 9, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29408162/sensory-and-motor-differences-in-autism-spectrum-conditions-and-developmental-coordination-disorder-in-children-a-cross-syndrome-study
#11
Penny Hannant, Sarah Cassidy, Rosaline Van de Weyer, Sophia Mooncey
Recent research has shown that Developmental coordination disorder (DCD) can present with some similar symptomology as Autism Spectrum Conditions (ASC). This paper therefore explored the similarities and differences in coordination and sensory responsivity between DCD and ASC. 77 children took part: 42 (35 male, 7 female) with ASC (ages 7-21: mean age 12.23 years), 26 (19 male, 7 female) with DCD (ages 7-21; mean age 11.07 years) and 9 (2 male, 7 female) with ASC and DCD (ages 8-15; mean age 12.27). All groups completed a battery of validated parent report measures online that included motor coordination (DCDQ), sensory responsivity (SPC-R) and social communication measures (AQ)...
January 26, 2018: Human Movement Science
https://www.readbyqxmd.com/read/29402452/impacts-of-stress-on-reproductive-and-social-behaviors
#12
REVIEW
A M Magariños, S M Schaafsma, D W Pfaff
Impacts of steroid stress hormones on the brain have provided multiple opportunities for linking specific molecular phenomena to behavioral state. The negative impacts of stress on female reproductive biological processes have been documented thoroughly at the endocrine and behavioral levels. More recently, a '3-hit' theory of autism has identified early stress as one of the hits. The multiple biochemical effects of endotoxin (lipopolysaccharide, LPS) indicated that it would serve as a powerful maternal immune activator...
February 2, 2018: Frontiers in Neuroendocrinology
https://www.readbyqxmd.com/read/29396406/dlgap1-knockout-mice-exhibit-alterations-of-the-postsynaptic-density-and-selective-reductions-in-sociability
#13
M P Coba, M J Ramaker, E V Ho, S L Thompson, N H Komiyama, S G N Grant, J A Knowles, S C Dulawa
The scaffold protein DLGAP1 is localized at the post-synaptic density (PSD) of glutamatergic neurons and is a component of supramolecular protein complexes organized by PSD95. Gain-of-function variants of DLGAP1 have been associated with obsessive-compulsive disorder (OCD), while haploinsufficient variants have been linked to autism spectrum disorder (ASD) and schizophrenia in human genetic studies. We tested male and female Dlgap1 wild type (WT), heterozygous (HT), and knockout (KO) mice in a battery of behavioral tests: open field, dig, splash, prepulse inhibition, forced swim, nest building, social approach, and sucrose preference...
February 2, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29379191/genetic-cluster-of-fragile-x-syndrome-in-a-colombian-district
#14
Wilmar Saldarriaga, Jose Vicente Forero-Forero, Laura Yuriko González-Teshima, Andrés Fandiño-Losada, Carolina Isaza, Jose Rafael Tovar-Cuevas, Marisol Silva, Nimrah S Choudhary, Hiu-Tung Tang, Sergio Aguilar-Gaxiola, Randi J Hagerman, Flora Tassone
BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene FMR1 in the general population is 0.2-0.4 per 1000 males and 0.125-0.4 per 1000 females. Population screening for FMR1 expanded alleles has been performed in newborns and in an adult population. However, it has never been carried out in an entire town. Ricaurte is a Colombian district with 1186 habitants, with a high prevalence of FXS, which was first described by cytogenetic techniques in 1999...
January 29, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29377098/pcdh19-related-epilepsy-is-associated-with-a-broad-neurodevelopmental-spectrum
#15
Lacey Smith, Nilika Singhal, Christelle M El Achkar, Gessica Truglio, Beth Rosen Sheidley, Joseph Sullivan, Annapurna Poduri
OBJECTIVE: To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy." METHODS: We analyzed data from participants enrolled in the PCDH19 Registry, focusing on the seizure-related, developmental, neurobehavioral, and sleep-related features. We evaluated variants for pathogenicity based on previous reports, population databases, and in silico predictions, and included individuals with pathogenic or potentially pathogenic variants...
January 28, 2018: Epilepsia
https://www.readbyqxmd.com/read/29375017/maternal-protein-malnutrition-induces-autism-like-symptoms-in-rat-offspring
#16
Tatiane Helena Batista, Alexandre Giusti-Paiva, Fabiana Cardoso Vilela
OBJECTIVE: We tested the correlation between maternal protein malnutrition and autistic-like symptoms using behavioral tests in rodents that measure main behavioral characteristics observed in humans with autism spectrum disorder (ASD). METHODS: Pregnant female rats were fed a normal diet or a hypoproteic diet during gestation and lactation periods. The litters were weighed every 3 days during lactation, and the offspring were tested in behavioral tasks during infancy (postnatal day (PND) 5: quantification of ultrasonic vocalizations; PND 13: homing behavior test) and adolescence (PND 30-32: open field, hole-board, play social behavior, and object recognition tests) in order to capture the prevalence of some of the core and associated symptoms of ASD...
January 28, 2018: Nutritional Neuroscience
https://www.readbyqxmd.com/read/29374522/inequity-aversion-is-observed-in-common-marmosets-but-not-in-marmoset-models-of-autism-induced-by-prenatal-exposure-to-valproic-acid
#17
Miyuki Yasue, Akiko Nakagami, Keiko Nakagaki, Noritaka Ichinohe, Nobuyuki Kawai
Humans and various nonhuman primates respond negatively to inequity not in their favor (i.e., inequity aversion), when inequity between two individuals is introduced. Common marmosets, a highly prosocial species, further discriminated between human actors who reciprocated in social exchanges, and those who did not. Conversely, marmoset models of autism, induced via prenatal exposure to valproic acid (VPA marmosets), did not discriminate. Interestingly, previous studies of inequity aversion in marmosets have produced negative results, or were limited to males...
January 24, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29362445/abnormal-behaviours-relevant-to-neurodevelopmental-disorders-in-kirrel3-knockout-mice
#18
Tomoko Hisaoka, Tadasuke Komori, Toshio Kitamura, Yoshihiro Morikawa
In the nervous system, Kirrel3 is involved in neuronal migration, axonal fasciculation, and synapse formation. Recently, genetic links have been reported between mutations in the KIRREL3 gene and increased risk of neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability. To elucidate the causal relationship between KIRREL3 deficiency and behavioural abnormalities relevant to neurodevelopmental disorders, we generated global Kirrel3-knockout (Kirrel3-/-) mice and investigated the detailed behavioural phenotypes...
January 23, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29360468/gut-immune-brain-dysfunction-in-autism-importance-of-sex
#19
Ashley M Kopec, Maria R Fiorentino, Staci D Bilbo
Autism Spectrum Disorder (ASD) is characterized by social behavior deficits, stereotypies, cognitive rigidity, and in some cases severe intellectual impairment and developmental delay. Although ASD is most widely identified by its neurological deficits, gastrointestinal issues are common in ASD. An intimate and complex relationship exists between the gut, the immune system, and the brain, leading to the hypothesis that ASD may be a systems-level disease affecting the gut and immune systems, in addition to the brain...
January 19, 2018: Brain Research
https://www.readbyqxmd.com/read/29359444/three-patients-with-schaaf-yang-syndrome-exhibiting-arthrogryposis-and-endocrinological-abnormalities
#20
Takuji Enya, Nobuhiko Okamoto, Yoshinori Iba, Tomoki Miyazawa, Mitsuru Okada, Shinobu Ida, Takuya Naruto, Issei Imoto, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto, Keisuke Sugimoto, Tsukasa Takemura
MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of MAGEL2 were identified. Patients 1 and 2, siblings born to healthy, non-consanguineous Japanese parents, showed generalized hypotonia, lethargy, severe respiratory difficulty, poor feeding, and multiple anomalies including arthrogryposis soon after birth. We carried out whole-exome sequencing, which detected a MAGEL2 mutation (c.1912C>T, p.Gln638*, heterozygous)...
January 23, 2018: American Journal of Medical Genetics. Part A
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