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https://www.readbyqxmd.com/read/28647830/the-comprehension-of-syntactic-and-affective-prosody-by-adults-with-autism-spectrum-disorder-without-accompanying-cognitive-deficits
#1
Maria Martzoukou, Despina Papadopoulou, Mary-Helen Kosmidis
The present study investigates the comprehension of syntactic and affective prosody in adults with autism spectrum disorder without accompanying cognitive deficits (ASD w/o cognitive deficits) as well as age-, education- and gender-matched unimpaired adults, while processing orally presented sentences. Two experiments were conducted: (a) an on-line sentence completion task containing local subject/object ambiguities and (b) an affective prosody task exploring the comprehension of six emotions. The syntactic prosody task revealed that the experimental group performed similar to the control group on the fillers and the object condition...
June 24, 2017: Journal of Psycholinguistic Research
https://www.readbyqxmd.com/read/28647613/validating-a-two-dimensional-bipolar-spectrum-model-integrating-dsm-5-s-mixed-features-specifier-for-major-depressive-disorder
#2
Panagiotis Ferentinos, Konstantinos N Fountoulakis, Cathryn M Lewis, Evgenia Porichi, Dimitris Dikeos, Charalambos Papageorgiou, Athanassios Douzenis
INTRODUCTION: The literature on DSM-5's 'Major Depressive Disorder with lifetime mixed features' (MDD-MF) is limited. This study investigated MDD-MF's potential inclusion into a bipolar spectrum. METHODS: We recruited 287 patients with Bipolar I disorder (BD-I), BD-II, MDD-MF or 'MDD without lifetime mixed features' (MDD-noMF); most (N=280) were stabilized for at least one year on medication. Sixteen validators (clinical features, psychiatric family history, temperament, stabilizing treatment) were compared across groups and subjected to trend analyses...
June 16, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28647540/reversible-swelling-of-sbmv-is-associated-with-reversible-disordering
#3
Jade Li, Carl Fricks, Donald L D Caspar, Ivan Rayment
The structures of the compact and swollen southern bean mosaic virus (SBMV) particles have been compared by X-ray diffraction and proton magnetic resonance (PMR). Small-angle X-ray scattering showed that removal of divalent cations at alkaline pH causes the particle diameter to increase from 289Å in the native SBMV by 12% in solution and by 9% in microcrystals. The swelling is fully reversible upon re-addition of Ca(2+)and Mg(2+) ions, as shown by the X-ray patterns at 6 Å resolution and by the 270 MHz PMR spectra...
June 21, 2017: Journal of Structural Biology
https://www.readbyqxmd.com/read/28647439/testing-the-effects-of-expression-intensity-and-age-on-emotional-face-processing-in-asd
#4
Rhiannon J Luyster, Johanna Bick, Alissa Westerlund, Charles A Nelson
Individuals with autism spectrum disorder (ASD) commonly show global deficits in the processing of facial emotion, including impairments in emotion recognition and slowed processing of emotional faces. Growing evidence has suggested that these challenges may increase with age, perhaps due to minimal improvement with age in individuals with ASD. In the present study, we explored the role of age, emotion type and emotion intensity in face processing for individuals with and without ASD. Twelve- and 18 to 22- year-old children with and without ASD participated...
June 21, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28647363/cadps2-gene-expression-is-oppositely-regulated-by-lrrk2-and-alpha-synuclein
#5
Julia Obergasteiger, Christa Überbacher, Peter P Pramstaller, Andrew A Hicks, Corrado Corti, Mattia Volta
The Ca(2+)-dependent activator protein for secretion 2 (CADPS2) is a member of the CAPS/CADPS protein family that play crucial roles in synaptic vesicle dynamics. Genomic variability in the CADPS2 gene has been associated to autism spectrum disorders and Alzheimer's disease, both characterized by altered neurotransmission. Biological evidence also linked CADPS2 to Parkinson's disease (PD), as a disease-causing mutation in leucine-rich repeat kinase 2 (LRRK2) was reported to increase CADPS2 gene and protein expression...
June 21, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28647360/structure-of-an-unconventional-sh3-domain-from-the-postsynaptic-density-protein-shank3-at-ultrahigh-resolution
#6
Srinivas Kumar Ponna, Matti Myllykoski, Tobias M Boeckers, Petri Kursula
The Shank family comprises three large multi-domain proteins playing central roles as protein scaffolds in the neuronal postsynaptic density. The Shank proteins are closely linked to neuropsychiatric diseases, such as autism spectrum disorders. One characteristic domain in the Shank family is the SH3 domain, assumed to play a role in protein-protein interactions; however, no specific ligand binding to any Shank SH3 domain has been described. We solved the crystal structure of the SH3 domain from Shank3 at sub-atomic resolution...
June 21, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28647013/autism-spectrum-symptoms-in-a-tourette-s-disorder-sample
#7
Sabrina M Darrow, Marco Grados, Paul Sandor, Matthew E Hirschtritt, Cornelia Illmann, Lisa Osiecki, Yves Dion, Robert King, David Pauls, Cathy L Budman, Danielle C Cath, Erica Greenberg, Gholson J Lyon, William M McMahon, Paul C Lee, Kevin L Delucchi, Jeremiah M Scharf, Carol A Mathews
OBJECTIVE: Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD, obsessive-compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD). METHOD: Participants with TD (n = 535) and their family members (n =234) recruited for genetic studies reported TD, OCD, and ADHD symptoms and completed the Social Responsiveness Scale Second Edition (SRS), which was used to characterize ASD symptoms...
July 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28647010/social-skills-training-for-children-and-adolescents-with-autism-spectrum-disorder-a-randomized-controlled-trial
#8
Nora Choque Olsson, Oskar Flygare, Christina Coco, Anders Görling, Anna Råde, Qi Chen, Katarina Lindstedt, Steve Berggren, Eva Serlachius, Ulf Jonsson, Kristiina Tammimies, Lars Kjellin, Sven Bölte
OBJECTIVE: Social skills group training (SSGT) for children and adolescents with autism spectrum disorder (ASD) is widely applied, but effectiveness in real-world practice has not yet been properly evaluated. This study sought to bridge this gap. METHOD: This 12-week pragmatic randomized controlled trial of SSGT compared to standard care alone was conducted at 13 child and adolescent psychiatry outpatient units in Sweden. Twelve sessions of manualized SSGT ("KONTAKT") were delivered by regular clinical staff...
July 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28646443/recent-discoveries-in-monogenic-disorders-of-childhood-bone-fragility
#9
REVIEW
Riikka E Mäkitie, Anders J Kämpe, Fulya Taylan, Outi Mäkitie
PURPOSE OF REVIEW: This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings. RECENT FINDINGS: Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identified defects outside the extracellular matrix components and collagen-related pathways, in intracellular cascades directly affecting bone cell function...
June 23, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28645986/feasibility-study-of-a-randomised-controlled-trial-to-investigate-the-effectiveness-of-using-a-humanoid-robot-to-improve-the-social-skills-of-children-with-autism-spectrum-disorder-kaspar-rct-a-study-protocol
#10
Silvana E Mengoni, Karen Irvine, Deepshikha Thakur, Garry Barton, Kerstin Dautenhahn, Karen Guldberg, Ben Robins, David Wellsted, Shivani Sharma
INTRODUCTION: Interventions using robot-assisted therapy may be beneficial for the social skills development of children with autism spectrum disorder (ASD); however, randomised controlled trials (RCTs) are lacking. The present research aims to assess the feasibility of conducting an RCT evaluating the effectiveness of a social skills intervention using Kinesics and Synchronisation in Personal Assistant Robotics (Kaspar) with children with ASD. METHODS AND ANALYSIS: Forty children will be recruited...
June 22, 2017: BMJ Open
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#11
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28645698/radiological-studies-of-fetal-alcohol-spectrum-disorders-in-humans-and-animal-models-an-updated-comprehensive-review
#12
Van T Nguyen, Suyinn Chong, Quang M Tieng, Karine Mardon, Graham J Galloway, Nyoman D Kurniawan
Fetal Alcohol Spectrum Disorders encompass a wide range of birth defects in children born to mothers who consumed alcohol during pregnancy. Typical mental impairments in FASD include difficulties in life adaptation and learning and memory, deficits in attention, visuospatial skills, language and speech disabilities, mood disorders and motor disabilities. Multimodal imaging methods have enabled in vivo studies of the teratogenic effects of alcohol on the central nervous system, giving more insight into the FASD phenotype...
June 20, 2017: Magnetic Resonance Imaging
https://www.readbyqxmd.com/read/28645298/neurodevelopmental-profile-of-fetal-alcohol-spectrum-disorder-a-systematic-review
#13
Shannon Lange, Joanne Rovet, Jürgen Rehm, Svetlana Popova
BACKGROUND: In an effort to improve the screening and diagnosis of individuals with Fetal Alcohol Spectrum Disorder (FASD), research has focused on the identification of a unique neurodevelopmental profile characteristic of this population. The objective of this review was to identify any existing neurodevelopmental profiles of FASD and review their classification function in order to identify gaps and limitations of the current literature. METHODS: A systematic search for studies published up to the end of December 2016 reporting an identified neurodevelopmental profile of FASD was conducted using multiple electronic bibliographic databases...
June 23, 2017: BMC Psychology
https://www.readbyqxmd.com/read/28645078/facial-affect-recognition-and-social-functioning-among-individuals-with-varying-degrees-of-schizotypy
#14
Marta Statucka, Deborah J Walder
Facial affect recognition (FAR) accuracy is impaired in schizophrenia and, to a lesser extent, in individuals at-risk for psychosis. Reduced reaction time and negative bias on FAR tasks are also evident in schizophrenia, though few studies have examined these measures in at-risk samples. Social dysfunction is associated with FAR deficits in schizophrenia and at-risk individuals. We aimed to elucidate the nature of FAR and social functioning among individuals from a non-clinical population reporting a range of schizotypal traits (i...
June 15, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28644991/glimpses-into-the-blind-spot-social-interaction-and-autism
#15
REVIEW
Kristen Bottema-Beutel
A primary feature of autism spectrum disorder (ASD) is marked difficulty in social interactions. Despite the centrality of social interaction differences to the clinical presentation of ASD, only a small portion of research in this field characterizes interaction in everyday social contexts. This theoretical paper reviews the growing corpus of interactional research on ASD, including discourse analysis (DA) and conversation analysis (CA) approaches. DA and CA are micro-analytic methods aimed at understanding the organizational structure of, and actions pursued within, social encounters...
June 16, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28644796/design-of-an-autonomous-social-orienting-training-system-asots-for-young-children-with-autism
#16
Zhi Zheng, Qiang Fu, Huan Zhao, Amy R Swanson, Amy S Weitlauf, Zachary E Warren, Nilanjan Sarkar
Social communication is among the core areas of impairment for children with Autism Spectrum Disorders (ASD). The training of social orientation is important for improving social communication of children with ASD. In recent years, technology-assisted ASD intervention had gained momentum due to its potential advantages in terms of precision, sustainability, flexibility and cost. In this paper, we propose a closed-loop autonomous computer system, named ASOTS, for training social orientation skills to young children with ASD...
June 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28644707/relationship-between-neurocognitive-function-and-clinical-symptoms-with-self-stigma-in-patients-with-schizophrenia-spectrum-disorders
#17
Sherry Kit Wa Chan, Shiao Yan Sharon Kao, Shing Lam Leung, Christy Lai Ming Hui, Edwin Ho Ming Lee, Wing Chung Chang, Eric Yu Hai Chen
BACKGROUND: Self-stigma is associated with poor outcomes of patients with schizophrenia and development of self-stigma is a complex process. Results of studies on relationship of both positive and negative symptoms of psychosis with self-stigma have been inconsistent. Cognitive deficits are common to patients. However, number of studies exploring the relationship specifically between self-stigma and neurocognition are limited. AIMS: The current study aimed to examine the relationship between neurocognitive functions and clinical symptoms with self-stigma...
June 23, 2017: Journal of Mental Health
https://www.readbyqxmd.com/read/28644547/a-genetic-epidemiology-study-of-congenital-adrenal-hyperplasia-in-italy
#18
Alessandro Gialluisi, Soara Menabò, Lilia Baldazzi, Letizia Casula, Antonella Meloni, Maria Carla Farci, Stefano Mariotti, Luisa Balestrino, Rita Ortolano, Stefania Murru, Carlo Carcassi, Sandro Loche, Antonio Balsamo, Giovanni Romeo
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD-CAH neonatal screening is based on 17-hydroxyprogesterone (17OHP) serum levels, showing high type I error rate and low sensitivity to mild CAH forms. Here, we used an epidemiological approach, which estimates the allelic frequency (q) of an autosomal recessive disorder using the proportion of homozygous patients, the mutational spectrum and the inbreeding coefficient in a sample of affected individuals...
June 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28644367/oral-cholic-acid-is-efficacious-and-well-tolerated-in-patients-with-bile-acid-synthesis-and-zellweger-spectrum-disorders
#19
James E Heubi, Kevin E Bove, Kenneth D R Setchell
BACKGROUND/AIMS: Patients with bile acid synthesis disorders (BASD) due to single enzyme defects (SED) or Zellweger spectrum disorders (ZSD) accumulate hepatotoxic atypical bile acids resulting in potentially fatal progressive liver disease. We evaluated the efficacy and safety of oral cholic acid in patients with BASD. METHODS: In this phase 3, open-label, single-arm, nonrandomized, noncomparative study conducted over 18 years, patients were administered cholic acid orally 10 to 15 mg/kg/day...
June 21, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28644238/prevention-and-management-of-descemet-membrane-endothelial-keratoplasty-complications
#20
Ruth Quilendrino, Marina Rodriguez-Calvo de Mora, Lamis Baydoun, Lisanne Ham, Korine van Dijk, Isabel Dapena, Silke Oellerich, Gerrit R J Melles
PURPOSE: To describe Descemet membrane endothelial keratoplasty (DMEK) complications and strategies for their prevention and management. METHODS: Five hundred consecutive eyes with DMEK of 393 patients were reviewed in this retrospective study for intraoperative and postoperative complications up to 2 years and for corresponding management. RESULTS: Intraoperative challenges (difficult graft unfolding/positioning, high vitreous pressure, iris root hemorrhage, and Descemet membrane remnants) were encountered in 81 eyes (16...
June 21, 2017: Cornea
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