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https://www.readbyqxmd.com/read/28319204/responses-to-others-pain-in-adults-with-autistic-traits-the-influence-of-gender-and-stimuli-modality
#1
Jing Meng, Zuoshan Li, Lin Shen
Individuals with autism-spectrum disorder (ASD) exhibit impairments in response to others' pain. Evidence suggests that features of autism are not restricted to individuals with ASD, and that autistic traits vary throughout the general population. To investigate the association between autistic traits and the responses to others' pain in typically developing adults, we employed the Autism-Spectrum Quotient (AQ) to quantify autistic traits in a group of 1670 healthy adults and explored whether 60 participants (30 males and 30 females) with 10% highest AQ scores (High-AQ) would exhibit difficulties in the responses to others' pain relative to 60 participants (30 males and 30 females) with 10% lowest AQ scores (Low-AQ)...
2017: PloS One
https://www.readbyqxmd.com/read/28303423/theory-of-mind-predominantly-associated-with-the-quality-not-quantity-of-pretend-play-in-children-with-autism-spectrum-disorder
#2
Shu-Kai Lin, Ching-Hong Tsai, Hsing-Jung Li, Chien-Yu Huang, Kuan-Lin Chen
This study aimed to clarify the relationships between theory of mind and pretend play in children with autism spectrum disorder, using refined assessments of theory of mind and pretend play while controlling for autistic behaviors and verbal comprehension. A total of 92 children with autism spectrum disorder aged 4-10 years were enrolled. In two visits, the children were assessed with the Theory of Mind Task Battery, the Child-Initiated Pretend Play Assessment, the Childhood Autism Rating Scale, and the Verbal Comprehension Index of the Wechsler Intelligence Scales, respectively, for their theory of mind, pretend play performance, autistic behaviors, and verbal comprehension...
March 16, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28302064/a-sibship-with-duplication-of-xq28-inherited-from-the-mother-genomic-characterization-and-clinical-outcomes
#3
Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae
BACKGROUND: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome. METHODS: We did research on a family with two brothers showing Xq28 duplication syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization. RESULTS: The duplicated region had several genes including MECP2 and interleukin-1 receptor associated kinase 1 (IRAK1; MIM *300283)...
March 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28301083/age-specific-autistic-like-behaviors-in-heterozygous-fmr1-ko-female-mice
#4
Manon Gauducheau, Valerie Lemaire-Mayo, Francesca R D'Amato, Diego Oddi, Wim E Crusio, Susanna Pietropaolo
Fragile X syndrome (FXS) is a major developmental disorder and the most frequent monogenic cause of autism. Surprisingly, most existing studies on the Fmr1-KO mouse model for FXS have focused on males, although FX women, who are mostly heterozygous for the Fmr1 mutation, are known to exhibit several behavioral deficits, including autistic-like features. Furthermore, most animal research has been carried out on adults only; so that little is known about the age progression of the behavioral phenotype of Fmr1 mutants, which is a crucial issue to optimize the impact of therapeutic interventions...
March 16, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28299627/analysis-of-estrogen-receptor-%C3%AE-gene-methylation-in-autistic-males-in-a-chinese-han-population
#5
Xuelai Wang, Shuang Liang, Yi Sun, Haixin Li, Fumio Endo, Mitsuyoshi Nakao, Noriko Saitoh, Lijie Wu
Autism spectrum disorder (ASD) is a neurodevelopment disorder with abnormalities of social interaction, communication and repetitive behaviors. The higher prevalence of ASD in men implies a potential relationship between sex hormones and ASD etiology. The ESR2 gene encodes estrogen receptor beta (ESR2) and plays an important role during brain development. A relationship between ESR2 and ASD has been suggested by studies on single nucleotide polymorphisms and mRNA and protein expression levels in ASD patients...
March 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28296209/the-urinary-1-h-nmr-metabolomics-profile-of-an-italian-autistic-children-population-and-their-unaffected-siblings
#6
Milena Lussu, Antonio Noto, Alice Masili, Andrea C Rinaldi, Angelica Dessì, Maria De Angelis, Andrea De Giacomo, Vassilios Fanos, Luigi Atzori, Ruggiero Francavilla
Autism spectrum disorders (ASD) make a dishomogeneous group of psychiatric diseases having either genetic and environmental components, including changes of the microbiota. The rate of diagnosis, based on a series of psychological tests and observed behavior, dramatically increased in the past few decades. Currently, no biological markers are available and the pathogenesis is not defined. The purpose of this study was to evaluate the potential use of (1) H-NMR metabolomics to analyze the global biochemical signature of ASD patients (n = 21) and controls (n = 21), these being siblings of autistic patients...
March 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28292384/association-of-learning-and-memory-calcineurin-binding-protein-with-autism-spectrum-disorders
#7
(no author information available yet)
OBJECTIVE: To determine the association of learning and memory calcineurin binding (CABIN1) protein with autism spectrum disorders. STUDY DESIGN: Cross-sectional comparative study. PLACE AND DURATION OF STUDY: The Autism Research and Treatment Center, King Khalid University Hospital, Riyadh, Saudi Arabia, from October 2013 to May 2014. METHODOLOGY: Serum levels of CABIN1 protein in 62 (64%) autistic male children were analysed and 35 (36%) age healthy children measured by using ELISA...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28291301/-acute-dystonia-due-to-aripiprazole-use-in-two-children-with-autism-spectrum-disorder-in-the-first-five-years-of-life
#8
Mustafa Küçükköse, Bürge Kabukçu Başay
Autism spectrum disorders (ASD) are neuropsychiatric disorders characterized by impairment in social interactions, in verbal and non-verbal communication, and restricted and stereotyped patterns of interest and behavior within the first 3 years of life. Pharmacologic interventions may be needed for the treatment of temper tantrums, aggression, hyperactivity, and stereotypes in children with ASD. The approval of aripiprazole by the United States Food and Drug Administration (USFDA) for the treatment of temper tantrums in children and adolescents with ASD has gained increased interest for the use in these patients...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#9
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28288805/humoral-immunity-and-autism-spectrum-disorders
#10
Keith Fluegge
Abnormal immune activation, particularly of a humoral nature, has consistently been described in the etiopathogenesis of autism spectrum disorders (ASD). In this journal, Mead and Ashwood (2015) reviewed immune abnormalities in autism and linked them to severity of classic autistic symptoms. However, there remains a lack of clarity as to how environmental risk factors in ASD may contribute to such immunophenotypes. The evidence presented herein highlights these immune deficits of a humoral nature in ASD. Moreover, aligned with prior research showing a link between chronic air pollution and suppression of humoral immunity, the author of this commentary has proposed that environmental exposure to pervasive air pollutants, particularly nitrous oxide (N2O), may target several anti-inflammatory biomarkers, including alpha 7 nicotinic acetylcholine receptor (α7nAChR) inhibition and stimulation of kappa opioid receptor (KOR) activity...
March 10, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28287497/role-of-genetics-in-the-etiology-of-autistic-spectrum-disorder-towards-a-hierarchical-diagnostic-strategy
#11
REVIEW
Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD...
March 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28283845/brief-report-biological-sound-processing-in-children-with-autistic-spectrum-disorder
#12
Melissa Lortie, Léa Proulx-Bégin, Dave Saint-Amour, Dominique Cousineau, Hugo Théoret, Jean-François Lepage
There is debate whether social impairments in autism spectrum disorder (ASD) are truly domain-specific, or if they reflect generalized deficits in lower-level cognitive processes. To solve this issue, we used auditory-evoked EEG responses to assess novelty detection (MMN component) and involuntary attentional orientation (P3 component) induced by socially-relevant, human-produced, biological sounds and acoustically-matched control stimuli in children with ASD and controls. Results show that early sensory and novelty processing of biological stimuli are preserved in ASD, but that automatic attentional orientation for biological sounds is markedly altered...
March 10, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28275086/the-autism-epidemic-ethical-legal-and-social-issues-in-a-developmental-spectrum-disorder
#13
William D Graf, Geoffrey Miller, Leon G Epstein, Isabelle Rapin
Classic autism has gradually evolved into the concept of a larger "spectrum disorder." The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimensional assessment strategies, increased awareness, linking of services to diagnosis, and the inclusion of milder neurodevelopmental differences bordering on normality. The spectrum disorder diagnosis raises numerous bioethical issues for individuals and society. Three groups of caregivers have important ethical, legal, and social obligations to individuals with autism/ASD: (1) families and advocates of individuals with autism/ASD; (2) health care and other professionals; and (3) governments...
March 8, 2017: Neurology
https://www.readbyqxmd.com/read/28264474/wearsense-detecting-autism-stereotypic-behaviors-through-smartwatches
#14
Amir Mohammad Amiri, Nicholas Peltier, Cody Goldberg, Yan Sun, Anoo Nathan, Shivayogi V Hiremath, Kunal Mankodiya
Autism is a complex developmental disorder that affects approximately 1 in 68 children (according to the recent survey conducted by the Centers for Disease Control and Prevention-CDC) in the U.S., and has become the fastest growing category of special education. Each student with autism comes with her or his own unique needs and an array of behaviors and habits that can be severe and which interfere with everyday tasks. Autism is associated with intellectual disability, impairments in social skills, and physical health issues such as sleep and abdominal disturbances...
February 28, 2017: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/28258508/a-volumetric-and-functional-connectivity-mri-study-of-brain-arginine-vasopressin-pathways-in-autistic-children
#15
Xiao-Jing Shou, Xin-Jie Xu, Xiang-Zhu Zeng, Ying Liu, Hui-Shu Yuan, Yan Xing, Mei-Xiang Jia, Qing-Yun Wei, Song-Ping Han, Rong Zhang, Ji-Sheng Han
Dysfunction of brain-derived arginine-vasopressin (AVP) systems may be involved in the etiology of autism spectrum disorder (ASD). Certain regions such as the hypothalamus, amygdala, and hippocampus are known to contain either AVP neurons or terminals and may play an important role in regulating complex social behaviors. The present study was designed to investigate the concomitant changes in autistic behaviors, circulating AVP levels, and the structure and functional connectivity (FC) of specific brain regions in autistic children compared with typically developing children (TDC) aged from 3 to 5 years...
April 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28258350/an-italian-prospective-experience-on-the-association-between-congenital-cytomegalovirus-infection-and-autistic-spectrum-disorder
#16
Francesca Garofoli, Giuseppina Lombardi, Simona Orcesi, Camilla Pisoni, Iolanda Mazzucchelli, Micol Angelini, Umberto Balottin, Mauro Stronati
The aim of this retrospective study, with prospective data collection, was to correlate congenital cytomegalovirus (CMV) infection with autism spectrum disorder (ASD) and to define its prevalence. Seventy proven congenitally-infected infants, born between 2007 and 2012, were referred to our centre for CMV diagnosis and follow-up, which consisted of a consolidated protocol allowing an early evaluation of autism. We considered four children 2-year old, two of whom, at the age of 3, were diagnosed with ASD demonstrating a 2-3 fold higher prevalence (2...
March 3, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28256099/assessment-of-autistic-traits-in-children-aged-2-to-4%C3%A2-years-with-the-preschool-version-of-the-social-responsiveness-scale-srs-p-findings-from-japan
#17
Andrew Stickley, Yoshiyuki Tachibana, Keiji Hashimoto, Hideyuki Haraguchi, Atsuko Miyake, Seiichi Morokuma, Hiroshi Nitta, Masako Oda, Yukihiro Ohya, Ayako Senju, Hidetoshi Takahashi, Takanori Yamagata, Yoko Kamio
The recent development and use of autism measures for the general population has led to a growing body of evidence which suggests that autistic traits are distributed along a continuum. However, as most existing autism measures were designed for use in children older than age 4, to date, little is known about the autistic continuum in children younger than age 4. As autistic symptoms are evident in the first few years, to address this research gap, the current study tested the preschool version of the Social Responsiveness Scale (SRS-P) in children aged 2 to 4½ years in clinical (N = 74, average age 40 months, 26-51 months) and community settings (N = 357, average age 39 months, 25-50 months) in Japan...
March 3, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28254162/noise-and-autism-spectrum-disorder-in-children-an-exploratory-survey
#18
Shireen M Kanakri, Mardelle Shepley, James W Varni, Louis G Tassinary
BACKGROUND: With more students being educated in schools for Autism Spectrum Disorder (ASD) than ever before, architects and interior designers need to consider the environmental features that may be modified to enhance the academic and social success of autistic students in school. AIM: This study explored existing empirical research on the impact of noise on children with ASD and provides recommendations regarding design features that can contribute to noise reduction...
February 18, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28251352/haploinsufficiency-of-the-e3-ubiquitin-protein-ligase-gene-trip12-causes-intellectual-disability-with-or-without-autism-spectrum-disorders-speech-delay-and-dysmorphic-features
#19
Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M Al Shamsi, Makanko Komara, Bassam R Ali, Elizabeth Roeder, Laura McAuley, Daniel S Roy, David K Manchester, Pilar Magoulas, Lauren E King, Vickie Hannig, Dominique Bonneau, Anne-Sophie Denommé-Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A Ward, Sau Wai Cheung, Weimin Bi, Christine M Eng, James R Lupski, Yaping Yang, Ankita Patel, Seema R Lalani, Fan Xia, Paweł Stankiewicz
Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzyme genes USP7 and USP9X has been reported in patients with neurodevelopmental delays. To date, only a handful of single-nucleotide variants (SNVs) and copy-number variants (CNVs) involving TRIP12, encoding a member of the HECT domain E3 ubiquitin ligases family on chromosome 2q36.3 have been reported. Using chromosomal microarray analysis and whole-exome sequencing (WES), we have identified, respectively, five deletion CNVs and four inactivating SNVs (two frameshifts, one missense, and one splicing) in TRIP12...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28239517/cortical-interactions-during-the-resolution-of-information-processing-demands-in-autism-spectrum-disorders
#20
Kristina Denisova, Guihu Zhao, Zhishun Wang, Suzanne Goh, Yuankai Huo, Bradley S Peterson
INTRODUCTION: Our flexible and adaptive interactions with the environment are guided by our individual representation of the physical world, estimated through sensation and evaluation of available information against prior knowledge. When linking sensory evidence with higher-level expectations for action, the central nervous system (CNS) in typically developing (TD) individuals relies in part on distributed and interacting cortical regions to communicate neuronal signals flexibly across the brain...
February 2017: Brain and Behavior
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