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https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#1
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/29141188/autistic-traits-modulate-the-activity-of-the-ventromedial-prefrontal-cortex-in-response-to-female-faces
#2
Yui Murakami, Shinya Sakai, Kenta Takeda, Daisuke Sawamura, Kazuki Yoshida, Takamichi Hirose, Chisa Ikeda, Hiroki Mani, Toru Yamamoto, Ayahito Ito
Previous findings have revealed abnormal visual attention or processing of faces among individuals with autism spectrum condition (ASC). However, little attention has been paid to the relationship between autistic traits and neural mechanisms associated with representing facial values. Using fMRI, we investigated the patterns of brain activity in the vmPFC and VS in response to faces of elderly males, elderly females, young males, and young females. During fMRI, subjects with a relatively high autism quotient (high group) and those with a relatively low autism quotient (low group) were presented with a face and asked to rate its pleasantness...
November 12, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/29139169/sex-differences-in-the-phagocytic-and-migratory-activity-of-microglia-and-their-impairment-by-palmitic-acid
#3
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
#4
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
#5
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/29090251/prognosis-following-dental-implant-treatment-under-general-anesthesia-in-patients-with-special-needs
#6
Il-Hyung Kim, Tae Seong Kuk, Sang Yoon Park, Yong-Suk Choi, Hyun Jeong Kim, Kwang-Suk Seo
BACKGROUND: This study retrospectively investigated outcomes following dental implantation in patients with special needs who required general anesthesia to enable treatment. METHODS: Patients underwent implant treatment under general anesthesia at the Clinic for the Disabled in Seoul National University Dental Hospital between January 2004 and June 2017. The study analyzed medical records and radiographs. Implant survival rates were calculated by applying criteria for success or failure...
September 2017: J Dent Anesth Pain Med
https://www.readbyqxmd.com/read/29075560/deletion-of-fmr1-results-in-sex-specific-changes-in-behavior
#7
Suzanne O Nolan, Conner D Reynolds, Gregory D Smith, Andrew J Holley, Brianna Escobar, Matthew A Chandler, Megan Volquardsen, Taylor Jefferson, Ashvini Pandian, Tileena Smith, Jessica Huebschman, Joaquin N Lugo
OBJECTIVE: In this study, we used a systemic Fmr1 knockout in order to investigate both genotype- and sex-specific differences across multiple measures of sociability, repetitive behaviors, activity levels, anxiety, and fear-related learning and memory. BACKGROUND: Fragile X syndrome is the most common monogenic cause of intellectual disability and autism. Few studies to date have examined sex differences in a mouse model of Fragile X syndrome, though clinical data support the idea of differences in both overall prevalence and phenotype between the sexes...
October 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29074576/a-pre-synaptic-function-of-shank-protein-in-drosophila
#8
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
#9
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
#10
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/29052806/profiling-autism-symptomatology-an-exploration-of-the-q-asc-parental-report-scale-in-capturing-sex-differences-in-autism
#11
Sarah Ormond, Charlotte Brownlow, Michelle Sarah Garnett, Agnieszka Rynkiewicz, Tony Attwood
The Questionnaire for Autism Spectrum Conditions (Q-ASC) was developed by Attwood et al. (2011) to identify gender-sensitive profiles of autism symptomatology; prioritise and adjust the direction of clinical interventions; and support positive psychosocial outcomes and prognosis into adulthood. The current research piloted the Q-ASC with parents of 238 children with a clinical diagnosis of ASD-Level 1 (without intellectual or language impairment). Data analysis revealed eight interpretable and reliable components of the Q-ASC using Principle components analysis...
October 20, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29039208/first-impressions-of-adults-with-autism-improve-with-diagnostic-disclosure-and-increased-autism-knowledge-of-peers
#12
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
#13
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
#14
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/29034517/medication-use-by-adolescents-and-adults-with-fragile-x-syndrome
#15
D J Laxman, J S Greenberg, L S DaWalt, J Hong, M G Aman, M Mailick
BACKGROUND: The behavioural challenges and medical conditions associated with fragile X syndrome (FXS) can lead to increased need for medications. METHOD: This longitudinal study examined the use of prescription medications for psychotropic and non-psychotropic purposes by adolescents and adults with FXS drawn from a North American community sample (N = 105). Odds and probabilities of continuing or discontinuing medication were calculated. Predictors of medication use were calculated...
October 15, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29033484/congenital-malformation-and-autism-spectrum-disorder-insight-from-a-rat-model-of-autism-spectrum-disorder
#16
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/29028520/socioeconomic-status-and-childhood-autism-a-population-based-study-in-china
#17
Ping He, Chao Guo, Zhenjie Wang, Gong Chen, Ning Li, Xiaoying Zheng
There is limited evidence on the association between socioeconomic status (SES) and autism in developing nations. The aim of this study was to examine this association among children aged 0-17 years in China. We obtained data from the Second National Sample Survey on Disability, and selected 616,940 children for analysis. Autism was ascertained according to the International Statistical Classification of Diseases, Tenth Revision. Multiple logistic regressions allowing for weights showed that children in middle-income and high-income families were less likely than their low-income peers to have autism, with an odds ratio of 0...
August 31, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/29027364/a-functional-polymorphism-of-the-oxtr-gene-is-associated-with-autistic-traits-in-caucasian-and-asian-populations
#18
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
#19
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/29022174/challenges-of-females-with-autism-a-parental-perspective
#20
Marilena Mademtzi, Pavita Singh, Fred Shic, Kathy Koenig
Most studies investigating the experiences and needs of individuals with ASD have largely focused on males. Hence, this study investigates parents' perspectives on the challenges that their daughters with ASD face. In total, 40 parents of 40 females with autism (age range = 4-29 years; mean = 15.9) participated in the study. Five separate, 2-h long focus groups were conducted, with 7-10 participants in each group. Field notes were analyzed using thematic analysis. Some of the issues parents discussed were similar to those experienced by males with ASD, such as challenges in social interactions...
October 11, 2017: Journal of Autism and Developmental Disorders
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