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Autism

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42 papers 25 to 100 followers
https://www.readbyqxmd.com/read/26782158/annual-research-review-the-role-of-the-environment-in-the-developmental-psychopathology-of-autism-spectrum-condition
#1
REVIEW
William Mandy, Meng-Chuan Lai
BACKGROUND: Although autism spectrum condition (ASC) is strongly genetic in origin, accumulating evidence points to the critical roles of various environmental influences on its emergence and subsequent developmental course. METHODS: A developmental psychopathology framework was used to synthesise literature on environmental factors associated with the onset and course of ASC (based on a systematic search of the literature using PubMed, PsychInfo and Google Scholar databases)...
March 2016: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/25303678/an-inherited-small-microdeletion-at-15q13-3-in-a-patient-with-early-onset-obsessive-compulsive-disorder
#2
Carolina Cappi, Ana Gabriela Hounie, Daniel B Mariani, Juliana Belo Diniz, Aderbal R T Silva, Viviane N S Reis, Ariane F Busso, Amanda Gonçalves Silva, Felipe Fidalgo, Silvia Regina Rogatto, Euripedes C Miguel, Ana C Krepischi, Helena Brentani
Copy number variations (CNVs) have been previously associated with several different neurodevelopmental psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivity disorder (ADHD). The present study consisted of a pilot genome-wide screen for CNVs in a cohort of 16 patients with early-onset obsessive-compulsive disorder (OCD) and 12 mentally healthy individuals, using array-based comparative genomic hybridization (aCGH) on 44K arrays. A small rare paternal inherited microdeletion (∼64 kb) was identified in chromosome 15q13...
2014: PloS One
https://www.readbyqxmd.com/read/25309321/synaptic-proteins-and-receptors-defects-in-autism-spectrum-disorders
#3
REVIEW
Jianling Chen, Shunying Yu, Yingmei Fu, Xiaohong Li
Recent studies have found that hundreds of genetic variants, including common and rare variants, rare and de novo mutations, and common polymorphisms contribute to the occurrence of autism spectrum disorders (ASDs). The mutations in a number of genes such as neurexin, neuroligin, postsynaptic density protein 95, SH3, and multiple ankyrin repeat domains 3 (SHANK3), synapsin, gephyrin, cadherin, and protocadherin, thousand-and-one-amino acid 2 kinase, and contactin, have been shown to play important roles in the development and function of synapses...
2014: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/25309350/the-therapeutic-potential-of-the-cerebellum-in-schizophrenia
#4
Krystal L Parker, Nandakumar S Narayanan, Nancy C Andreasen
The cognitive role of the cerebellum is critically tied to its distributed connections throughout the brain. Accumulating evidence from anatomical, structural and functional imaging, and lesion studies advocate a cognitive network involving indirect connections between the cerebellum and non-motor areas in the prefrontal cortex. Cerebellar stimulation dynamically influences activity in several regions of the frontal cortex and effectively improves cognition in schizophrenia. In this manuscript, we summarize current literature on the cingulocerebellar circuit and we introduce a method to interrogate this circuit combining opotogenetics, neuropharmacology, and electrophysiology in awake-behaving animals while minimizing incidental stimulation of neighboring cerebellar nuclei...
2014: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/25309376/are-there-any-relationships-between-latent-toxoplasma-gondii-infection-testosterone-elevation-and-risk-of-autism-spectrum-disorder
#5
REVIEW
Amir Abdoli, Abdolhossein Dalimi
No abstract text is available yet for this article.
2014: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/25313509/elevated-serum-neurotensin-and-crh-levels-in-children-with-autistic-spectrum-disorders-and-tail-chasing-bull-terriers-with-a-phenotype-similar-to-autism
#6
I Tsilioni, N Dodman, A I Petra, A Taliou, K Francis, A Moon-Fanelli, L Shuster, T C Theoharides
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by defects in communication and social interactions, as well as stereotypic behaviors. Symptoms typically worsen with anxiety and stress. ASD occur in early childhood, often present with regression and have a prevalence of 1 out of 68 children. The lack of distinct pathogenesis or any objective biomarkers or reliable animal models hampers our understanding and treatment of ASD. Neurotensin (NT) and corticotropin-releasing hormone (CRH) are secreted under stress in various tissues, and have proinflammatory actions...
2014: Translational Psychiatry
https://www.readbyqxmd.com/read/25323912/a-comparison-of-receptive-expressive-language-profiles-between-toddlers-with-autism-spectrum-disorder-and-developmental-language-delay
#7
COMPARATIVE STUDY
Kyeong In Seol, Seung Ha Song, Ka Lim Kim, Seung Taek Oh, Young Tae Kim, Woo Young Im, Dong Ho Song, Keun-Ah Cheon
PURPOSE: It is well known that expressive language impairment is commonly less severe than receptive language impairment in children with autism spectrum disorder (ASD). However, this result is based on experiments in Western countries with Western language scales. This study tries to find whether the result above is applicable for toddlers in a non-Western country; more specifically, in Korea with non-Western language scales. MATERIALS AND METHODS: The participants were 166 toddlers aged between 20 months and 50 months who visited the clinic from December 2010 to January 2013...
November 2014: Yonsei Medical Journal
https://www.readbyqxmd.com/read/25324723/synapses-as-therapeutic-targets-for-autism-spectrum-disorders-an-international-symposium-held-in-pavia-on-july-4th-2014
#8
REVIEW
Paolo Curatolo, Yehezkel Ben-Ari, Yuri Bozzi, Maria Vincenza Catania, Egidio D'Angelo, Lisa Mapelli, Lindsay M Oberman, Christian Rosenmund, Enrico Cherubini
New progresses into the molecular and cellular mechanisms of autism spectrum disorders (ASDs) have been discussed in 1 day international symposium held in Pavia (Italy) on July 4th, 2014 entitled "synapses as therapeutic targets for autism spectrum disorders" (satellite of the FENS Forum for Neuroscience, Milan, 2014). In particular, world experts in the field have highlighted how animal models of ASDs have greatly advanced our understanding of the molecular pathways involved in synaptic dysfunction leading sometimes to "synaptic clinical trials" in children...
2014: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/25325077/concordance-of-mother-child-sleep-patterns-using-actigraphy-preliminary-findings
#9
Suzanne E Goldman, Lily Wang, Diane B Fawkes
Sleep problems are common in children with autism spectrum disorder (ASD) and are often associated with problem behaviors. Problematic sleep in the child may impact maternal sleep. We examined the association of sleep in mother-child dyads to child daytime behavior and maternal insomnia and daytime sleepiness in 11 children with ASD and 6 children of typical development (TD) using wrist actigraphs over 14 consecutive nights. Early morning wakenings were significantly associated with poorer daytime behavior as measured by the Child Behavior Checklist in both ASD and TD children...
February 24, 2014: Journal of Sleep Disorders-- Treatment & Care
https://www.readbyqxmd.com/read/25326002/location-dependent-signaling-of-the-group-1-metabotropic-glutamate-receptor-mglu5
#10
REVIEW
Yuh-Jiin I Jong, Ismail Sergin, Carolyn A Purgert, Karen L O'Malley
Although G protein-coupled receptors are primarily known for converting extracellular signals into intracellular responses, some receptors, such as the group 1 metabotropic glutamate receptor, mGlu5, are also localized on intracellular membranes where they can mediate both overlapping and unique signaling effects. Thus, besides "ligand bias," whereby a receptor's signaling modality can shift from G protein dependence to independence, canonical mGlu5 receptor signaling can also be influenced by "location bias" (i...
December 2014: Molecular Pharmacology
https://www.readbyqxmd.com/read/25337070/a-candidate-gene-association-study-further-corroborates-involvement-of-contactin-genes-in-autism
#11
Martin Poot
Although autism spectrum disorder (ASD) shows a high degree of heritability, only a few mutated genes and mostly de novo copy number variations (CNVs) with a high phenotypic impact have as yet been identified. In families with multiple ASD patients, transmitted CNVs often do not appear to cosegregate with disease. Therefore, also transmitted single nucleotide variants which escape detection if genetic analyses were limited to CNVs may contribute to disease risk. In several studies of ASD patients, CNVs covering at least one gene of the contactin gene family were found...
August 2014: Molecular Syndromology
https://www.readbyqxmd.com/read/25339916/early-interpersonal-neurobiological-assessment-of-attachment-and-autistic-spectrum-disorders
#12
Allan N Schore
There is now a strong if not urgent call in both the attachment and autism literatures for updated, research informed, clinically relevant interventions that can more effectively assess the mother infant dyad during early periods of brain plasticity. In this contribution I describe my work in regulation theory, an overarching interpersonal neurobiological model of the development, psychopathogenesis, and treatment of the early forming subjective self system. The theory models the psychoneurobiological mechanisms by which early rapid, spontaneous and thereby implicit emotionally laden attachment communications indelibly impact the experience-dependent maturation of the right brain, the "emotional brain...
2014: Frontiers in Psychology
https://www.readbyqxmd.com/read/25342879/decreased-mitogen-inducible-gene-6-mig-6-associated-with-symptom-severity-in-children-with-autism
#13
Aj Russo
BACKGROUND: Individuals with autism spectrum disorders (ASDs) demonstrate impairment in social interactions and problems in verbal and nonverbal communication. Autism spectrum disorders are thought to affect 1 in 88 children in the US. Recent research has shown that epidermal growth factor receptor (EGFR) activation is associated with nerve cell development and repair. Mitogen inducible gene 6 (MIG-6) is a 58-kDa non-kinase scaffolding adaptor protein consisting of 462 amino-acids, which has been shown to be a negative feedback regulator of EGFR and Met receptor tyrosine kinase (RTK) signaling...
2014: Biomarker Insights
https://www.readbyqxmd.com/read/25180570/genome-wide-distribution-of-auts2-binding-localizes-with-active-neurodevelopmental-genes
#14
N Oksenberg, G D E Haliburton, W L Eckalbar, I Oren, S Nishizaki, K Murphy, K S Pollard, R Y Birnbaum, N Ahituv
The autism susceptibility candidate 2 gene (AUTS2) has been associated with multiple neurological diseases including autism spectrum disorders (ASDs). Previous studies showed that AUTS2 has an important neurodevelopmental function and is a suspected master regulator of genes implicated in ASD-related pathways. However, the regulatory role and targets of Auts2 are not well known. Here, by using ChIP-seq (chromatin immunoprecipitation followed by deep sequencing) and RNA-seq on mouse embryonic day 16.5 forebrains, we elucidated the gene regulatory networks of Auts2...
2014: Translational Psychiatry
https://www.readbyqxmd.com/read/25187257/a-combination-of-ascorbic-acid-and-%C3%AE-tocopherol-to-test-the-effectiveness-and-safety-in-the-fragile-x-syndrome-study-protocol-for-a-phase-ii-randomized-placebo-controlled-trial
#15
RANDOMIZED CONTROLLED TRIAL
Yolanda de Diego-Otero, Rocio Calvo-Medina, Carolina Quintero-Navarro, Lourdes Sánchez-Salido, Francisco García-Guirado, Ignacio del Arco-Herrera, Isabel Fernández-Carvajal, Teresa Ferrando-Lucas, Rafaela Caballero-Andaluz, Lucia Pérez-Costillas
BACKGROUND: Fragile X syndrome (FXS) is an inherited neurodevelopmental condition characterised by behavioural, learning disabilities, physical and neurological symptoms. In addition, an important degree of comorbidity with autism is also present. Considered a rare disorder affecting both genders, it first becomes apparent during childhood with displays of language delay and behavioural symptoms.Main aim: To show whether the combination of 10 mg/kg/day of ascorbic acid (vitamin C) and 10 mg/kg/day of α-tocopherol (vitamin E) reduces FXS symptoms among male patients ages 6 to 18 years compared to placebo treatment, as measured on the standardized rating scales at baseline, and after 12 and 24 weeks of treatment...
September 3, 2014: Trials
https://www.readbyqxmd.com/read/25192512/cerebral-creatine-deficiencies-a-group-of-treatable-intellectual-developmental-disorders
#16
REVIEW
Sylvia Stockler-Ipsiroglu, Clara D M van Karnebeek
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8]. Intellectual developmental disorder and cerebral creatine deficiency are the hallmarks of CDD. Additional clinical features include prominent speech delay, autism, epilepsy, extrapyramidal movement disorders, and signal changes in the globus pallidus...
July 2014: Seminars in Neurology
https://www.readbyqxmd.com/read/25193601/association-between-parent-infant-interactions-in-infancy-and-disruptive-behaviour-disorders-at-age-seven-a-nested-case-control-alspac-study
#17
Christine Puckering, Clare S Allely, Orla Doolin, David Purves, Alex McConnachie, Paul C D Johnson, Helen Marwick, Jon Heron, Jean Golding, Christopher Gillberg, Philip Wilson
BACKGROUND: Effective early intervention to prevent oppositional/conduct disorders requires early identification of children at risk. Patterns of parent-child interaction may predict oppositional/conduct disorders but large community-based prospective studies are needed to evaluate this possibility. METHODS: We sought to examine whether the Mellow Parenting Observational System (MPOS) used to assess parent-infant interactions at one year was associated with psychopathology at age 7...
September 6, 2014: BMC Pediatrics
https://www.readbyqxmd.com/read/25194583/a-prospective-study-of-sleep-problems-in-children-with-adhd
#18
Kate Lycett, Fiona K Mensah, Harriet Hiscock, Emma Sciberras
BACKGROUND: Behavioral sleep problems are common in children with attention-deficit/hyperactivity disorder (ADHD), yet their persistence or otherwise is unknown. We examined behavioral sleep problem trajectories, types of sleep problems experienced, and associated risk/protective factors. METHODS: HASH(0x35305c0) DESIGN: Prospective cohort study. SETTING: Twenty-one pediatric practices across Victoria, Australia. PARTICIPANTS: A total of 195 children with ADHD (5-13 years)...
November 2014: Sleep Medicine
https://www.readbyqxmd.com/read/25198094/neural-systems-for-cognitive-reappraisal-in-children-and-adolescents-with-autism-spectrum-disorder
#19
Naomi B Pitskel, Danielle Z Bolling, Martha D Kaiser, Kevin A Pelphrey, Michael J Crowley
Despite substantial clinical and anecdotal evidence for emotion dysregulation in individuals with autism spectrum disorder (ASD), little is known about the neural substrates underlying this phenomenon. We sought to explore neural mechanisms for cognitive reappraisal in children and adolescents with ASD using functional magnetic resonance imaging (fMRI). We studied 16 youth with ASD and 15 age- and IQ-matched typically developing (TD) comparison youth. Participants were instructed in the use of cognitive reappraisal strategies to increase and decrease their emotional responses to disgusting images...
October 2014: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/25202686/the-use-of-medications-approved-for-alzheimer-s-disease-in-autism-spectrum-disorder-a-systematic-review
#20
REVIEW
Daniel A Rossignol, Richard E Frye
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects 1 in 68 children in the United States. Even though it is a common disorder, only two medications (risperidone and aripiprazole) are approved by the U.S. Food and Drug Administration (FDA) to treat symptoms associated with ASD. However, these medications are approved to treat irritability, which is not a core symptom of ASD. A number of novel medications, which have not been approved by the FDA to treat ASD have been used off-label in some studies to treat ASD symptoms, including medications approved for Alzheimer's disease...
2014: Frontiers in Pediatrics
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