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High functioning autism

Ashley de Marchena, Judith Miller
Many individuals with ASD have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD. This phenomenon has been discussed informally for decades, perhaps as "classic" ASD; however, there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning. Thus, neither "frank" nor "classic" autism has been delineated or studied as a research construct. To initiate the empirical study of frank ASD, we surveyed 151 clinicians, from a range of disciplines that diagnose ASD, about this phenomenon...
October 21, 2016: Autism Research: Official Journal of the International Society for Autism Research
Dominique Endres, Rick Dersch, Oliver Stich, Armin Buchwald, Evgeniy Perlov, Bernd Feige, Simon Maier, Andreas Riedel, Ludger Tebartz van Elst
INTRODUCTION: Vitamin D has many immunomodulatory, anti-inflammatory, and neuroprotective functions, and previous studies have demonstrated an association between vitamin D deficiency and neuropsychiatric disease. The aim of our study was to analyze the prevalence of vitamin D deficiency in a 1-year cohort of adult inpatients with schizophreniform and autism spectrum syndromes in a naturalistic inpatient setting in Germany. PARTICIPANTS AND METHODS: Our study was comprised of 60 adult schizophreniform and 23 adult high-functioning autism spectrum patients who were hospitalized between January and December of 2015...
2016: Frontiers in Psychiatry
Joanna Granich, Alena Dass, Margherita Busacca, Dennis Moore, Angelika Anderson, Svetha Venkatesh, Thi Duong, Pratibha Vellanki, Amanda Richdale, David Trembath, Darin Cairns, Wendy Marshall, Tania Rodwell, Madeleine Rayner, Andrew J O Whitehouse
BACKGROUND: Evidence for early intensive behavioural interventions (EIBI) by therapists as an effective treatment for children with an Autism Spectrum Disorder (ASD) is growing. High-intensity and sustained delivery of quality EIBI is expensive. The TOBY (Therapy Outcomes by You) Playpad is an App-based platform delivering EIBI to facilitate learning for young children with ASD, while enabling parents to become co-therapists. Intervention targets include increasing joint attention, imitation and communication of children with ASD...
October 19, 2016: BMC Pediatrics
Stephanie M Morris, Maria T Acosta, Shruti Garg, Jonathan Green, Susan Huson, Eric Legius, Kathryn N North, Jonathan M Payne, Ellen Plasschaert, Thomas W Frazier, Lauren A Weiss, Yi Zhang, David H Gutmann, John N Constantino
Importance: Recent reports have demonstrated a higher incidence of autism spectrum disorder (ASD) and substantially elevated autistic trait burden in individuals with neurofibromatosis type 1 (NF1). However, important discrepancies regarding the distribution of autistic traits, sex predominance, and association between ASD symptoms and attentional problems have emerged, and critical features of the ASD phenotype within NF1 have never been adequately explored. Establishing NF1 as a monogenic cause for ASD has important implications for affected patients and for future research focused on establishing convergent pathogenic mechanisms relevant to the potential treatment targets for ASD...
October 19, 2016: JAMA Psychiatry
Hyejung Won, Luis de la Torre-Ubieta, Jason L Stein, Neelroop N Parikshak, Jerry Huang, Carli K Opland, Michael J Gandal, Gavin J Sutton, Farhad Hormozdiari, Daning Lu, Changhoon Lee, Eleazar Eskin, Irina Voineagu, Jason Ernst, Daniel H Geschwind
Three-dimensional physical interactions within chromosomes dynamically regulate gene expression in a tissue-specific manner. However, the 3D organization of chromosomes during human brain development and its role in regulating gene networks dysregulated in neurodevelopmental disorders, such as autism or schizophrenia, are unknown. Here we generate high-resolution 3D maps of chromatin contacts during human corticogenesis, permitting large-scale annotation of previously uncharacterized regulatory relationships relevant to the evolution of human cognition and disease...
October 19, 2016: Nature
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that disrupted DPP6, a potassium channel interacting protein. Copy Number (CN) analysis in 14,077 cases with neurodevelopmental disorders and 8,960 control subjects revealed that 60% of cases with exonic deletions in LRRC4C had a second clinically recognizable syndrome associated with variable clinical phenotypes, including 16p11...
October 19, 2016: American Journal of Medical Genetics. Part A
Bojana Kuzmanovic, Lionel Rigoux, Kai Vogeley
Previous research has demonstrated irrational asymmetry in belief updating: people tend to take into account good news and neglect bad news. Contradicting formal learning principles, belief updates were on average larger after better-than-expected information than after worse-than-expected information. In the present study, typically developing subjects demonstrated this optimism bias in self-referential judgments. In contrast, adults with high-functioning autism spectrum disorder (ASD) were significantly less biased when updating self-referential beliefs (each group n = 21, matched for age, gender and IQ)...
October 18, 2016: Journal of Autism and Developmental Disorders
Cath Rogers, Laurence Lepherd, Rahul Ganguly, Sebastian Jacob-Rogers
PROBLEM: Autistic Spectrum Disorder (ASD) is an increasingly commonly diagnosed disability. People with ASD commonly report challenges in social interaction and a heightened sensory perception. These challenges may be particularly difficult for women during pregnancy, birthing and beyond. BACKGROUND: Very little is known about the experiences and needs of birthing women who have ASD. There is a large body of literature about women who have autistic children, but almost nothing about women who may have this disability themselves...
October 14, 2016: Women and Birth: Journal of the Australian College of Midwives
John G Conboy
The Rbfox genes encode an ancient family of sequence-specific RNA binding proteins (RBPs) that are critical developmental regulators in multiple tissues including skeletal muscle, cardiac muscle, and brain. The hallmark of Rbfox proteins is a single high-affinity RRM domain, highly conserved from insects to humans, that binds preferentially to UGCAUG motifs at diverse regulatory sites in pre-mRNA introns, mRNA 3'UTRs, and pre-miRNAs hairpin structures. Versatile regulatory circuits operate on Rbfox pre-mRNA and mRNA to ensure proper expression of Rbfox1 protein isoforms, which then act on the broader transcriptome to regulate alternative splicing networks, mRNA stability and translation, and microRNA processing...
October 17, 2016: Wiley Interdisciplinary Reviews. RNA
B Zhang, E Seigneur, P Wei, O Gokce, J Morgan, T C Südhof
Neuroligins are postsynaptic cell-adhesion molecules that bind to presynaptic neurexins. Mutations in neuroligin-3 predispose to autism, but how such mutations affect synaptic function remains incompletely understood. Here we systematically examined the effect of three autism-associated mutations, the neuroligin-3 knockout, the R451C knockin, and the R704C knockin, on synaptic transmission in the calyx of Held, a central synapse ideally suited for high-resolution analyses of synaptic transmission. Surprisingly, germline knockout of neuroligin-3 did not alter synaptic transmission, whereas the neuroligin-3 R451C and R704C knockins decreased and increased, respectively, synaptic transmission...
October 11, 2016: Molecular Psychiatry
Jun Udagawa, Kodai Hino
Epidemiological studies suggest that exposure to prenatal stressors, including malnutrition, maternal immune activation (MIA), and adverse life events, is associated with increased risks of schizophrenia, autism spectrum disorder (ASD), and attention-deficit hyperactivity disorder (ADHD). However, the underlying pathophysiological mechanisms are unclear. The first trimester of pregnancy is particularly a vulnerable period. During this period, the self-renewal of neural stem cells and neurogenesis vigorously occur, and synaptic connections are partially formed in the telencephalon...
2016: Nihon Eiseigaku Zasshi. Japanese Journal of Hygiene
Takashi Yamada, Takashi Itahashi, Motoaki Nakamura, Hiromi Watanabe, Miho Kuroda, Haruhisa Ohta, Chieko Kanai, Nobumasa Kato, Ryu-Ichiro Hashimoto
BACKGROUND: The insular cortex comprises multiple functionally differentiated sub-regions, each of which has different patterns of connectivity with other brain regions. Such diverse connectivity patterns are thought to underlie a wide range of insular functions, including cognitive, affective, and sensorimotor processing, many of which are abnormal in autism spectrum disorder (ASD). Although past neuroimaging studies of ASD have shown structural and functional abnormalities in the insula, possible alterations in the sub-regional organization of the insula and the functional characteristics of each sub-region have not been examined in the ASD brain...
2016: Molecular Autism
Sohini Chatterjee, Trevor Humby, William Davies
BACKGROUND: X-linked ichthyosis (XLI) is a rare dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). Preliminary evidence in boys with XLI, and animal model studies, suggests that individuals lacking STS are at increased risk of developmental disorders and associated traits. However, the behavioural profile of children with XLI is poorly-characterised, and the behavioural profile of adults with XLI has not yet been documented at all. MATERIALS AND METHODS: Using an online survey, advertised worldwide, we collected detailed self- or parent-reported information on behaviour in adult (n = 58) and younger (≤18yrs, n = 24) males with XLI for comparison to data from their non-affected brothers, and age/gender-matched previously-published normative data...
2016: PloS One
Daniel Umbricht, Marta Del Valle Rubido, Eric Hollander, James T McCracken, Frederick Shic, Lawrence Scahill, Jana Noeldeke, Lauren Boak, Omar Khwaja, Lisa Squassante, Christophe Grundschober, Heidemarie Kletzl, Paulo Fontoura
The core symptoms of Autism Spectrum Disorder (ASD) include impaired social communication, repetitive behaviors and restricted interests. No effective pharmacotherapy for these core deficits exists. Within the domain of social communication, the vasopressin system is implicated in social cognition and social signaling deficits of ASD, and represents a potential therapeutic target. We assessed the effects of a single 20 mg intravenous dose of the arginine vasopressin receptor 1A (V1a) antagonist, RG7713, on exploratory biomarkers (eye-tracking), behavioral and clinical measures of social cognition and communication (affective speech recognition [ASR], reading the mind in the eyes [RMET], olfactory identification, scripted interaction), and safety and tolerability in a multicenter, randomized, double-blind, placebo-controlled, cross-over study of 19 high-functioning adult male subjects with DSM-IV Autistic Disorder (age 18-45 years; full scale IQ>70; ABC-Irritability subscale ⩽13)...
October 6, 2016: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
Ulf Jonsson, Iman Alaie, Anna Löfgren Wilteus, Eric Zander, Peter B Marschik, David Coghill, Sven Bölte
BACKGROUND: An individual's subjective perception of well-being is increasingly recognized as an essential complement to clinical symptomatology and functional impairment in children's mental health. Measurement of quality of life (QoL) has the potential to give due weight to the child's perspective. SCOPE AND METHODOLOGY: Our aim was to critically review the current evidence on how childhood mental disorders affect QoL. First, the major challenges in this research field are outlined...
October 6, 2016: Journal of Child Psychology and Psychiatry, and Allied Disciplines
Eric R Murphy, Megan Norr, John F Strang, Lauren Kenworthy, William D Gaillard, Chandan J Vaidya
We examined spontaneous attention orienting to visual salience in stimuli without social significance using a modified Dot-Probe task during functional magnetic resonance imaging in high-functioning preadolescent children with Autism Spectrum Disorder (ASD) and age- and IQ-matched control children. While the magnitude of attentional bias (faster response to probes in the location of solid color patch) to visually salient stimuli was similar in the groups, activation differences in frontal and temporoparietal regions suggested hyper-sensitivity to visual salience or to sameness in ASD children...
October 1, 2016: Journal of Autism and Developmental Disorders
Joana C Carmo, Cristiane Souza, Filipe Gonçalves, Sandra Pinho, Carlos N Filipe, Thomas Lachmann
We tested whether individuals with autism spectrum disorder (ASD) are impaired in visuospatial working memory or in the use of the semantic system, in particular in categorization processes at the service of working memory. The performance of high-functioning individuals with ASD (N = 21) in a visual same-different task adapted from Lachmann and van Leeuwen [e.g., Lachmann, T., & van Leeuwen, C. (2010). Representational economy, not processing speed, determines preferred processing strategy of visual patterns...
August 15, 2016: Journal of Clinical and Experimental Neuropsychology
Gerhard S Drenthen, Evelien M Barendse, Albert P Aldenkamp, Tamar M van Veenendaal, Nicolaas A J Puts, Richard A E Edden, Svitlana Zinger, Geert Thoonen, Marc P H Hendriks, Roy P C Kessels, Jacobus F A Jansen
Previous studies have suggested that alterations in excitatory/inhibitory neurotransmitters might play a crucial role in autism spectrum disorder (ASD). Proton magnetic resonance spectroscopy ((1)H-MRS) can provide valuable information about abnormal brain metabolism and neurotransmitter concentrations. However, few (1)H-MRS studies have been published on the imbalance of the two most abundant neurotransmitters in ASD: glutamate (Glu) and gamma-aminobutyric acid (GABA). Moreover, to our knowledge none of these published studies is performed with a study population consisting purely of high-functioning autism (HFA) adolescents...
October 30, 2016: Psychiatry Research
Gerasimos Kolaitis, Christian G Bouwkamp, Alexia Papakonstantinou, Ioanna Otheiti, Maria Belivanaki, Styliani Haritaki, Terpsihori Korpa, Zinovia Albani, Elena Terzioglou, Polyxeni Apostola, Aggeliki Skamnaki, Athena Xaidara, Konstantina Kosma, Sophia Kitsiou-Tzeli, Maria Tzetis
BACKGROUND: This is a case with multiple chromosomal aberrations which are likely etiological for the observed psychiatric phenotype consisting of attention deficit hyperactivity and conduct disorders. CASE PRESENTATION: We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory. A cytogenetic analysis and high-resolution microarray comparative genomic hybridization (CGH) analysis was performed...
2016: Child and Adolescent Psychiatry and Mental Health
A Desai, J M Sequeira, E V Quadros
Folate receptor alpha (FRα) autoantibodies have been associated with fetal abnormalities and cerebral folate deficiency-related developmental disorders. Over 70% of the children with autism spectrum disorders (ASD) are positive for these autoantibodies and high-dose folinic acid is beneficial in treating these children. Here we show that antibodies (Abs) to the rat FRα administered during gestation produce communication, learning and cognitive deficits in a rat model that can be prevented by folinic acid and dexamethasone...
September 20, 2016: Molecular Psychiatry
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