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https://www.readbyqxmd.com/read/28340442/neurocognitive-performance-as-an-endophenotype-for-mood-disorder-subgroups
#1
Alison K Merikangas, Lihong Cui, Monica E Calkins, Tyler M Moore, Ruben C Gur, Raquel E Gur, Kathleen R Merikangas
BACKGROUND: There is growing evidence that neurocognitive function may be an endophenotype for mood disorders. The goal of this study is to examine the specificity and familiality of neurocognitive functioning across the full range of mood disorder subgroups, including Bipolar I (BP-I), Bipolar II (BP-II), Major Depressive Disorders (MDD), and controls in a community-based family study. METHODS: A total of 310 participants from 137 families with mood spectrum disorders (n=151) and controls (n=159) completed the University of Pennsylvania's Computerized Neurocognitive Battery (CNB) that assessed the accuracy and speed of task performance across five domains...
March 10, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28339466/in-silico-search-for-modifier-genes-associated-with-pancreatic-and-liver-disease-in-cystic-fibrosis
#2
Pascal Trouvé, Emmanuelle Génin, Claude Férec
Cystic Fibrosis is the most common lethal autosomal recessive disorder in the white population, affecting among other organs, the lung, the pancreas and the liver. Whereas Cystic Fibrosis is a monogenic disease, many studies reveal a very complex relationship between genotype and clinical phenotype. Indeed, the broad phenotypic spectrum observed in Cystic Fibrosis is far from being explained by obvious genotype-phenotype correlations and it is admitted that Cystic Fibrosis disease is the result of multiple factors, including effects of the environment as well as modifier genes...
2017: PloS One
https://www.readbyqxmd.com/read/28335467/through-the-kinesthetic-lens-observation-of-social-attunement-in-autism-spectrum-disorders
#3
Rosemarie Samaritter, Helen Payne
This paper will present a movement-informed perspective to social attunement in Autism Spectrum Disorders (ASD). BACKGROUND: Dance movement therapy (DMT) is a psychotherapeutic intervention that is used with participants with ASD in various settings. Regular clinical outcome monitoring in an outpatient setting in the Netherlands had shown positive effects on social attunement capacities in young people with ASD. However, a systematic study of the development of social attunement movement behaviors of participants with ASD throughout a DMT intervention was not yet available...
March 18, 2017: Behavioral Sciences
https://www.readbyqxmd.com/read/28335463/dysfunctional-mtorc1-signaling-a-convergent-mechanism-between-syndromic-and-nonsyndromic-forms-of-autism-spectrum-disorder
#4
REVIEW
Juliana Magdalon, Sandra M Sánchez-Sánchez, Karina Griesi-Oliveira, Andréa L Sertié
Whereas autism spectrum disorder (ASD) exhibits striking heterogeneity in genetics and clinical presentation, dysfunction of mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway has been identified as a molecular feature common to several well-characterized syndromes with high prevalence of ASD. Additionally, recent findings have also implicated mTORC1 signaling abnormalities in a subset of nonsyndromic ASD, suggesting that defective mTORC1 pathway may be a potential converging mechanism in ASD pathology across different etiologies...
March 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28334938/clinical-and-genetic-characterization-of-leukoencephalopathies-in-adults
#5
David S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lucia Inês Macedo-Souza, Rahul Lakshmanan, Justin A Kinsella, Aine Merwick, Alexander M Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J Morrison, Deborah Hughes, Alan Pittman, Matilde Laurà, Mary M Reilly, Jason D Warren, Catherine J Mummery, Jonathan M Schott, Matthew Adams, Nick C Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden
Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all...
March 2, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334843/a152t-tau-allele-causes-neurodegeneration-that-can-be-ameliorated-in-a-zebrafish-model-by-autophagy-induction
#6
Ana Lopez, Suzee E Lee, Kevin Wojta, Eliana Marisa Ramos, Eric Klein, Jason Chen, Adam L Boxer, Maria Luisa Gorno-Tempini, Daniel H Geschwind, Lars Schlotawa, Nikolay V Ogryzko, Eileen H Bigio, Emily Rogalski, Sandra Weintraub, Marsel M Mesulam, Angeleen Fleming, Giovanni Coppola, Bruce L Miller, David C Rubinsztein
Mutations in the gene encoding tau (MAPT) cause frontotemporal dementia spectrum disorders. A rare tau variant p.A152T was reported as a risk factor for frontotemporal dementia spectrum and Alzheimer's disease in an initial case-control study. Such findings need replication in an independent cohort. We analysed an independent multinational cohort comprising 3100 patients with neurodegenerative disease and 4351 healthy control subjects and found p.A152T associated with significantly higher risk for clinically defined frontotemporal dementia and progressive supranuclear palsy syndrome...
February 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334615/the-ncam1-gene-set-is-linked-to-depressive-symptoms-and-their-brain-structural-correlates-in-healthy-individuals
#7
Jana Petrovska, David Coynel, Matthias Fastenrath, Annette Milnik, Bianca Auschra, Tobias Egli, Leo Gschwind, Francina Hartmann, Eva Loos, Klara Sifalakis, Christian Vogler, Dominique J-F de Quervain, Andreas Papassotiropoulos, Angela Heck
Depressive symptoms exist on a continuum, the far end of which is found in depressive disorders. Utilizing the continuous spectrum of depressive symptoms may therefore contribute to the understanding of the biological underpinnings of depression. Gene set enrichment analysis (GSEA) is an important tool for the identification of gene groups linked to complex traits, and was applied in the present study on genome-wide association study (GWAS) data of depression scores and their brain-level structural correlates in healthy young individuals...
March 6, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28334488/the-metacognition-assessment-scale-mas-a-results-of-a-pilot-study-applying-a-german-translation-to-individuals-with-schizophrenia-spectrum-disorders
#8
Anna-Lena Bröcker, Samuel Bayer, Frauke Stuke, Patrick Giemsa, Andreas Heinz, Felix Bermpohl, Paul H Lysaker, Christiane Montag
OBJECTIVES: Metacognition, the capacity 'to think about thinking' and thus to reflect and to master interpersonal problems on a mentalistic basis, is often impaired among patients with schizophrenia spectrum disorders and has been suggested as a potential treatment target. However, little is known about the reliability of its measurement and links with related phenomena. The aim of this study was to validate a German translation of the Metacognition Assessment Scale (MAS-A) as a measure to assess metacognition from free narratives of patients' personally relevant episodes and relationships...
March 23, 2017: Psychology and Psychotherapy
https://www.readbyqxmd.com/read/28334461/profile-of-children-diagnosed-with-a-fetal-alcohol-spectrum-disorder-a-retrospective-chart-review
#9
Natasha Reid, Doug Shelton, Judith Warner, Frances O'Callaghan, Sharon Dawe
INTRODUCTION AND AIMS: Fetal alcohol spectrum disorder (FASD) is a significant public health concern, and growing recognition in Australia led to the establishment of a specialist service for young children. The aim of the current study was to report on the diagnostic profile of a group of children who attended the service, to document the extent to which there were comorbid diagnoses and to provide information on the neurocognitive functioning of the children. DESIGN AND METHODS: This study was a retrospective chart review conducted by the diagnostic service...
March 23, 2017: Drug and Alcohol Review
https://www.readbyqxmd.com/read/28334243/erratum-to-functional-mri-of-human-eyeblink-classical-conditioning-in-children-with-fetal-alcohol-spectrum-disorders
#10
Dominic T Cheng, Ernesta M Meintjes, Mark E Stanton, Neil C Dodge, Mariska Pienaar, Christopher M R Warton, John E Desmond, Christopher D Molteno, Bradley S Peterson, Joseph L Jacobson, Sandra W Jacobson
No abstract text is available yet for this article.
February 25, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28334240/the-use-of-rbans-among-inpatient-forensic-monolingual-spanish-speakers
#11
Cynthia Aguilar, Kenny A Karyadi, Dominique I Kinney, Stephen R Nitch
Objective: The Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) has been shown to be an effective screener for detecting neurocognitive impairments in English speaking forensic psychiatric inpatients, but no studies have examined whether the RBANS would have the same utility among monolingual Spanish speaking inpatients. This study sought to examine RBANS performance, as well as risk factors (i.e., educational, neurological, and medical) influencing RBANS performance, in that particular population...
February 18, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28334080/cortical-thickness-abnormalities-in-autism-spectrum-disorders-through-late-childhood-adolescence-and-adulthood-a-large-scale-mri-study
#12
Budhachandra S Khundrakpam, John D Lewis, Penelope Kostopoulos, Felix Carbonell, Alan C Evans
Neuroimaging studies in autism spectrum disorders (ASDs) have provided inconsistent evidence of cortical abnormality. This is probably due to the small sample sizes used in most studies, and important differences in sample characteristics, particularly age, as well as to the heterogeneity of the disorder. To address these issues, we assessed abnormalities in ASD within the Autism Brain Imaging Data Exchange data set, which comprises data from approximately 1100 individuals (~6-55 years). A subset of these data that met stringent quality control and inclusion criteria (560 male subjects; 266 ASD; age = 6-35 years) were used to compute age-specific differences in cortical thickness in ASD and the relationship of any such differences to symptom severity of ASD...
February 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28334053/new-insights-of-altered-lipid-profile-in-fragile-x-syndrome
#13
Artuela Çaku, Nabil G Seidah, Audrey Lortie, Nancy Gagné, Patrice Perron, Jean Dubé, Francois Corbin
BACKGROUND: Fragile X Syndrome (FXS) is the main genetic cause of autism and intellectual deficiency resulting the absence of the Fragile X Mental Retardation Protein (FMRP). Clinical picture is characterized by cognitive impairment associated with a broad spectrum of psychiatric comorbidities including autism spectrum disorders and attention-deficit/hyperactivity disorders. Some of these disorders have been associated with lipid abnormalities and lower cholesterol levels. Since lipids are important for neuronal development, we aim to investigate the lipid profile of French Canadian-FXS individuals and to identify the altered components of cholesterol metabolism as well as their association with clinical profile...
2017: PloS One
https://www.readbyqxmd.com/read/28333849/autism-spectrum-disorder-in-males-with-sex-chromosome-aneuploidy-xxy-klinefelter-syndrome-xyy-and-xxyy
#14
Nicole R Tartaglia, Rebecca Wilson, Judith S Miller, Jessica Rafalko, Lisa Cordeiro, Shanlee Davis, David Hessl, Judith Ross
OBJECTIVE: Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD diagnoses in SCA. METHODS: Evaluation of participants with XXY/KS (n=20), XYY (n=57) and XXYY (n=21) included medical history, cognitive/adaptive testing, Social Communication Questionnaire, Social Responsiveness Scale, Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, and DSM ASD criteria...
March 21, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28333847/management-of-children-with-autism-spectrum-disorder-in-the-anesthesia-and-radiographic-context
#15
Ingalill G Berglund, Berit Björkman, Karing Enskär, Maria Faresjö, Karina Huus
OBJECTIVE: As a primary objective, this study purports to develop guidelines to better care for children with autism spectrum disorder (ASD), particularly regarding these children's preparation for anesthesia and radiologic procedures. METHODS: Using a Delphi method with an online distribution of questionnaire, guidelines for caring for children with ASD were created. Twenty-one participants were included in the expert panel. These participants were working with children with ASD in several anesthesia and radiology departments in Sweden...
March 21, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28333493/bayesian-approaches-to-autism-towards-volatility-action-and-behavior
#16
Colin J Palmer, Rebecca P Lawson, Jakob Hohwy
Autism spectrum disorder currently lacks an explanation that bridges cognitive, computational, and neural domains. In the past 5 years, progress has been sought in this area by drawing on Bayesian probability theory to describe both social and nonsocial aspects of autism in terms of systematic differences in the processing of sensory information in the brain. The present article begins by synthesizing the existing literature in this regard, including an introduction to the topic for unfamiliar readers. The key proposal is that autism is characterized by a greater weighting of sensory information in updating probabilistic representations of the environment...
March 23, 2017: Psychological Bulletin
https://www.readbyqxmd.com/read/28333465/disordering-effects-of-digitonin-on-phospholipid-monolayers
#17
Marta Orczyk, Kamil Wojciechowski, Gerald Brezesinski
Digitonin, a steroidal saponin obtained from the Foxglove plant (Digitalis purpurea), displays a wide spectrum of biological properties and is often used as a model in mechanistic investigations of biological activity of saponins. In the present study, Langmuir monolayers of zwitterionic (DPPC, DMPE, POPC, POPE, DSPC, DSPE, DPPE) and ionic (DPPS, DPPG) phospholipids were employed, in order to better understand the effect of digitonin on the lipid organization. For this purpose, a combination of surface pressure relaxation, infrared reflection absorption spectroscopy (IRRAS) and fluorescence microscopy measurements, was used...
March 23, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28332277/sequencing-of-sporadic-attention-deficit-hyperactivity-disorder-adhd-identifies-novel-and-potentially-pathogenic-de-novo-variants-and-excludes-overlap-with-genes-associated-with-autism-spectrum-disorder
#18
Daniel Seung Kim, Amber A Burt, Jane E Ranchalis, Beth Wilmot, Joshua D Smith, Karynne E Patterson, Bradley P Coe, Yatong K Li, Michael J Bamshad, Molly Nikolas, Evan E Eichler, James M Swanson, Joel T Nigg, Deborah A Nickerson, Gail P Jarvik
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83...
March 22, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28332245/parental-attributions-for-positive-behaviours-in-children-with-autism-spectrum-disorder
#19
P Bussanich, S L Hartley, D Bolt
BACKGROUND: The present study examined parental attributions for positive child behaviour in children with Autism Spectrum Disorder (ASD) and their association with parent outcomes. METHOD: In total, 175 couples who had a child with ASD (5-12 years) completed measures about the child's positive behaviour, ASD symptoms, functional skills and negative behaviour problems, and their own positive and negative affect and closeness in the parent-child relationship. A comparison group of 170 couples who had a child without a neurodevelopmental disability also completed measures...
March 22, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28332092/the-spectrum-of-neuropathological-changes-associated-with-congenital-zika-virus-infection
#20
Leila Chimelli, Adriana S O Melo, Elyzabeth Avvad-Portari, Clayton A Wiley, Aline H S Camacho, Vania S Lopes, Heloisa N Machado, Cecilia V Andrade, Dione C A Dock, Maria Elisabeth Moreira, Fernanda Tovar-Moll, Patricia S Oliveira-Szejnfeld, Angela C G Carvalho, Odile N Ugarte, Alba G M Batista, Melania M R Amorim, Fabiana O Melo, Thales A Ferreira, Jacqueline R L Marinho, Girlene S Azevedo, Jeime I B F Leal, Rodrigo F Madeiro da Costa, Stevens Rehen, Monica B Arruda, Rodrigo M Brindeiro, Rodrigo Delvechio, Renato S Aguiar, Amilcar Tanuri
A major concern associated with ZIKV infection is the increased incidence of microcephaly with frequent calcifications in infants born from infected mothers. To date, postmortem analysis of the central nervous system (CNS) in congenital infection is limited to individual reports or small series. We report a comprehensive neuropathological study in ten newborn babies infected with ZIKV during pregnancy, including the spinal cords and dorsal root ganglia (DRG), and also muscle, pituitaries, eye, systemic organs, and placentas...
March 22, 2017: Acta Neuropathologica
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