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https://www.readbyqxmd.com/read/29332179/profiles-and-correlates-of-parent-child-agreement-on-social-anxiety-symptoms-in-youth-with-autism-spectrum-disorder
#1
Catherine A Burrows, Lauren V Usher, Emily M Becker-Haimes, Camilla M McMahon, Peter C Mundy, Amanda Jensen-Doss, Heather A Henderson
This study characterized patterns and correlates of parent-youth agreement on social anxiety in youth with and without autism spectrum disorder (ASD). Participants (279 verbally-fluent youth aged 8-16 years, NASD = 144, NTD = 135) completed the SASC-R. Youth with ASD exhibited higher social anxiety across informants. While TD youth endorsed higher anxiety than did parents, self- and parent-reports did not differ in youth with ASD. For children with ASD, higher parent-youth agreement was associated with lower lifetime ASD symptoms and higher adaptive skills...
January 13, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29332178/association-of-autism-with-maternal-infections-perinatal-and-other-risk-factors-a-case-control-study
#2
Dikran Richard Guisso, Fadi S Saadeh, Dahlia Saab, Joud El Deek, Sarah Chamseddine, Hadi Abou El Hassan, Ghidaa Majari, Rose-Mary Boustany
This case-control study explores the association between pregnancy/birth complications and other factors with Autism Spectrum Disorder (ASD) in Lebanese subjects aged 2-18 years. Researchers interviewed 136 ASD cases from the American University of Beirut Medical Center Special Kids Clinic, and 178 controls selected by systematic digit dialing in the Greater-Beirut area. Male gender (Adjusted Odds Ratio [95% CI]: 3.9 [2.2-7.0]); postpartum feeding difficulties (2.5 [1.2-5.4]); maternal infections/complications during pregnancy (2...
January 13, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29331932/cnv-biology-in-neurodevelopmental-disorders
#3
REVIEW
Toru Takumi, Kota Tamada
Copy number variants (CNVs), characterized in recent years by cutting-edge technology, add complexity to our knowledge of the human genome. CNVs contribute not only to human diversity but also to different kinds of diseases including neurodevelopmental delay, autism spectrum disorder and neuropsychiatric diseases. Interestingly, many pathogenic CNVs are shared among these diseases. Studies suggest that pathophysiology of disease may not be simply attributed to a single driver gene within a CNV but also that multifactorial effects may be important...
January 10, 2018: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29331800/nucleus-accumbens-mu-opioid-receptors-regulate-context-specific-social-preferences-in-the-juvenile-rat
#4
Caroline J W Smith, Kevin B Wilkins, Sara Li, Maxwell T Tulimieri, Alexa H Veenema
The μ opioid receptor (MOR) in the nucleus accumbens (NAc) is involved in assigning pleasurable, or hedonic value to rewarding stimuli. Importantly, the hedonic value of a given rewarding stimulus likely depends on an individual's current motivational state. Here, we examined the involvement of MORs in the motivation to interact with a novel or a familiar (cage mate) conspecific in juvenile rats. First, we demonstrated that the selective MOR antagonist CTAP administered into the NAc reduces social novelty preference of juvenile males, by decreasing the interaction time with the novel conspecific and increasing the interaction time with the cage mate...
December 30, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29331354/specificity-in-etiology-of-subtypes-of-bipolar-disorder-evidence-from-a-swedish-population-based-family-study
#5
Jie Song, Ralf Kuja-Halkola, Arvid Sjölander, Sarah E Bergen, Henrik Larsson, Mikael Landén, Paul Lichtenstein
BACKGROUND: Uncertainty remains whether bipolar I disorder (BDI) and bipolar II disorder (BDII) differ etiologically. We used a population-based family sample to examine the etiological boundaries between BDI and BDII by assessing their familial aggregation/coaggregation and by assessing the coaggregation between them and schizophrenia, depression, attention-deficit/hyperactivity disorder, eating disorders, autism spectrum disorder, substance use disorders, anxiety disorders, and personality disorders...
November 20, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29331093/sensitivity-to-audio-visual-synchrony-and-its-relation-to-language-abilities-in-children-with-and-without-asd
#6
Giulia Righi, Elena J Tenenbaum, Carolyn McCormick, Megan Blossom, Dima Amso, Stephen J Sheinkopf
Autism Spectrum Disorder (ASD) is often accompanied by deficits in speech and language processing. Speech processing relies heavily on the integration of auditory and visual information, and it has been suggested that the ability to detect correspondence between auditory and visual signals helps to lay the foundation for successful language development. The goal of the present study was to examine whether young children with ASD show reduced sensitivity to temporal asynchronies in a speech processing task when compared to typically developing controls, and to examine how this sensitivity might relate to language proficiency...
January 13, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29331075/an-examination-of-the-clinical-outcomes-of-adolescents-and-young-adults-with-broad-autism-spectrum-traits-and-autism-spectrum-disorder-and-anorexia-nervosa-a-multi-centre-study
#7
Bruno Palazzo Nazar, Vanessa Peynenburg, Charlotte Rhind, Rebecca Hibbs, Ulrike Schmidt, Simon Gowers, Pamela Macdonald, Elizabeth Goddard, Gillian Todd, Nadia Micali, Janet Treasure
OBJECTIVES: To compare the clinical outcomes of adolescents and young adults with anorexia nervosa (AN) comorbid with broad autism spectrum disorder (ASD) or ASD traits. METHOD: The developmental and well-being assessment and social aptitude scale were used to categorize adolescents and young adults with AN (N = 149) into those with ASD traits (N = 23), and those who also fulfilled diagnostic criteria for a possible/probable ASD (N = 6). We compared both eating disorders specific measures and broader outcome measures at intake and 12 months follow-up...
January 13, 2018: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29330487/a-biomarker-characterizing-neurodevelopment-with-applications-in-autism
#8
Di Wu, Jorge V José, John I Nurnberger, Elizabeth B Torres
Despite great advances in neuroscience and genetic studies, our understanding of neurodevelopmental disorders is still quite limited. An important reason is not having objective psychiatric clinical tests. Here we propose a quantitative neurodevelopment assessment by studying natural movement outputs. Movement is central to behaviors: It involves complex coordination, temporal alterations, and precise dynamic controls. We carefully analyzed the continuous movement output data, collected with high definition electromagnetic sensors at millisecond time scales...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330412/high-expression-of-endogenous-retroviruses-from-intrauterine-life-to-adulthood-in-two-mouse-models-of-autism-spectrum-disorders
#9
Chiara Cipriani, Laura Ricceri, Claudia Matteucci, Alessia De Felice, Anna Maria Tartaglione, Ayele Argaw-Denboba, Francesca Pica, Sandro Grelli, Gemma Calamandrei, Paola Sinibaldi Vallebona, Emanuela Balestrieri
Retroelements, such as Human Endogenous Retroviruses (HERVs), have been implicated in many complex diseases, including neurological and neuropsychiatric disorders. Previously, we demonstrated a distinctive expression profile of specific HERV families in peripheral blood mononuclear cells from Autistic Spectrum Disorders (ASD) patients, suggesting their involvement in ASD. Here we used two distinct ASD mouse models: inbred BTBR T+tf/J mice and CD-1 outbred mice prenatally exposed to valproic acid. Whole embryos, blood and brain samples from the offspring were collected at different ages and the expression of several ERV families (ETnI, ETnII-α, ETnII-β, ETnII-γ, MusD and IAP), proinflammatory cytokines (IL-1β, IL-6 and TNF-α) and Toll-like receptors (TLR3 and TLR4) was assessed...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29329513/the-behavioural-phenotype-of-potocki-lupski-syndrome-a-cross-syndrome-comparison
#10
Stacey Bissell, Lucy Wilde, Caroline Richards, Jo Moss, Chris Oliver
BACKGROUND: Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-delineated behavioural phenotype, the behavioural profile in PTLS is less well defined, despite purported associations with autism spectrum disorder (ASD) and the suggestion that some behaviours may be diametric to those seen in SMS. METHODS: Caregivers of individuals with PTLS (N = 34; M age = 12...
January 10, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29329511/classifying-and-characterizing-the-development-of-adaptive-behavior-in-a-naturalistic-longitudinal-study-of-young-children-with-autism
#11
Cristan Farmer, Lauren Swineford, Susan E Swedo, Audrey Thurm
BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories...
January 5, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29329089/neural-circuit-dysfunction-in-mouse-models-of-neurodevelopmental-disorders
#12
REVIEW
Isabel Del Pino, Beatriz Rico, Oscar Marín
Neuropsychiatric disorders arise from the alteration of normal brain developmental trajectories disrupting the function of specific neuronal circuits. Recent advances in human genetics have greatly accelerated the identification of genes whose variation increases the susceptibility for neurodevelopmental disorders, most notably for autism spectrum disorder (ASD) and schizophrenia. In parallel, experimental studies in animal models-most typically in mice-are beginning to shed light on the role of these genes in the development and function of specific brain circuits...
January 9, 2018: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29329050/factors-influencing-the-severity-of-behavioral-phenotype-in-autism-spectrum-disorders-implications-for-research
#13
Mingyang Zou, Caihong Sun, Jia Wang, Jing Kang, Zhanbin Xu, Yongjuan Ma, Lei Chen, Xinxi Zhang, Wei Xia, Lijie Wu
The phenotypic heterogeneity of Autism Spectrum Disorders (ASD) presents particular research challenges in the assessment of symptom severity, while the standardized Autism Diagnostic Observation Schedule (ADOS) scores present a severity metric, namely calibrated severity scores (CSS) that are relatively impervious to individual characteristics. To date, no studies have examined the convergent validity of CSS in Chinese sample populations. The present study investigated the validity of the ADOS-CSS using a sample of 321 children aged 2-18 years with ASD, and developed upon existing literature examining the influence of non-ASD-specific characteristics on other types of measures including Autism Diagnostic Interview-Revised (ADI-R), Social Responsiveness Scale (SRS), and Vineland Adaptive Behavior Scales (VABS)...
January 5, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29327340/shank3-deficient-thalamocortical-neurons-show-hcn-channelopathy-and-alterations-in-intrinsic-electrical-properties
#14
Mengye Zhu, VinayKumar Idikuda, Jianbing Wang, Fusheng Wei, Virang Kumar, Nikhil Shah, Christopher B Waite, Qinglian Liu, Lei Zhou
Shank3 is a scaffolding protein that is highly enriched in excitatory synapses. Mutations in Shank3 gene have been linked to neuropsychiatric disorders especially the Autism Spectrum Disorders (ASD). Shank3 deficiency is known to cause impairments in synaptic transmission, but its effects on basic neuronal electrical properties that are more localized to the soma and proximal dendrites remain unclear. Here we confirmed that in heterologous expression systems two different Shank3 isoforms, Shank3A and Shank3C, significant increase the surface expression of the hyperpolarization-activated, cyclic-nucleotide-gated (HCN) channel...
January 12, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29327328/genetic-analysis-of-very-obese-children-with-autism-spectrum-disorder
#15
Herman D Cortes, Rachel Wevrick
Autism spectrum disorder (ASD) is defined by the triad of deficits in social interactions, deficits in communication, and repetitive behaviors. Common co-morbidities in syndromic forms of ASD include intellectual disability, seizures, and obesity. We asked whether very obese children with ASD had different behavioral, physical and genetic characteristics compared to children with ASD who were not obese. We found that very obese children with ASD had significantly poorer scores on standardized behavioral tests...
January 11, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29327313/reduction-of-pain-sensitivity-after-somatosensory-therapy-in-children-with-autism-spectrum-disorders
#16
Inmaculada Riquelme, Samar M Hatem, Pedro Montoya
Children with autism spectrum disorders (ASD) often present with somatosensory dysfunction including an abnormal reactivity to tactile stimuli and altered pain perception. A therapy based on somatosensory stimuli has shown effectiveness in reducing pain sensitivity among adults with cerebral palsy. The present study aims at exploring the influence of somatosensory therapy on somatosensory parameters in children with ASD. Children with high-functioning ASD were randomly assigned to either the intervention (n = 29) or the control group (n = 30)...
January 12, 2018: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/29325848/a-genetic-investigation-of-sex-bias-in-the-prevalence-of-attention-deficit-hyperactivity-disorder
#17
Joanna Martin, Raymond K Walters, Ditte Demontis, Manuel Mattheisen, S Hong Lee, Elise Robinson, Isabell Brikell, Laura Ghirardi, Henrik Larsson, Paul Lichtenstein, Nicholas Eriksson, Thomas Werge, Preben Bo Mortensen, Marianne Giørtz Pedersen, Ole Mors, Merete Nordentoft, David M Hougaard, Jonas Bybjerg-Grauholm, Naomi R Wray, Barbara Franke, Stephen V Faraone, Michael C O'Donovan, Anita Thapar, Anders D Børglum, Benjamin M Neale
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is two to seven times more common in male individuals than in female individuals. We examined two putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity and higher burden of risk in female cases. METHODS: We analyzed genome-wide autosomal common variants from the Psychiatric Genomics Consortium and iPSYCH Project (n = 20,183 cases, n = 35,191 controls) and Swedish population register data (n = 77,905 cases, n = 1,874,637 population controls)...
December 2, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29325626/fragile-x-syndrome-and-fragile-x-associated-tremor-ataxia-syndrome
#18
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325621/genetics-of-autism-spectrum-disorder
#19
Gokul Ramaswami, Daniel H Geschwind
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impaired social interaction and stereotyped behaviors. ASD has a strong and complex genetic component, with multiple familial inheritance patterns and an estimate of up to 1000 genes potentially implicated. Over the past decade, genomic technologies have enabled rapid progress in the identification of risk genes for ASD. In this chapter, we review the delineation of ASD disease genes starting from traditional genetic studies such as linkage and association, and then focusing on more recent studies utilizing genomic technologies, such as high-throughput genotyping and exome sequencing...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325234/prospective-associations-between-infant-sleep-at-12-months-and-autism-spectrum-disorder-screening-scores-at-24-months-in-a-community-based-birth-cohort
#20
A K Danny Nguyen, Laura E Murphy, Mehmet Kocak, Frances A Tylavsky, Linda S Pagani
BACKGROUND: Sleep problems have been associated with autism spectrum disorder (ASD) symptoms and diagnosis. However, past research has studied the simultaneous association of sleep problems with precursor ASD symptoms. Using data from a birth cohort, we estimate prospective associations between infant sleep characteristics at 12 months and later ASD screening scores at 24 months. METHODS: We obtained data from children (N = 1,096) and their mothers as participants in the Conditions Affecting Neurocognitive Development and Learning in Early Childhood longitudinal birth cohort study...
January 2, 2018: Journal of Clinical Psychiatry
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