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https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#1
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/28644991/glimpses-into-the-blind-spot-social-interaction-and-autism
#2
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/28638324/stochastic-signatures-of-involuntary-head-micro-movements-can-be-used-to-classify-females-of-abide-into-different-subtypes-of-neurodevelopmental-disorders
#3
Elizabeth B Torres, Sejal Mistry, Carla Caballero, Caroline P Whyatt
Background: The approximate 5:1 male to female ratio in clinical detection of Autism Spectrum Disorder (ASD) prevents research from characterizing the female phenotype. Current open access repositories [such as those in the Autism Brain Imaging Data Exchange (ABIDE I-II)] contain large numbers of females to help begin providing a new characterization of females on the autistic spectrum. Here we introduce new methods to integrate data in a scale-free manner from continuous biophysical rhythms of the nervous systems and discrete (ordinal) observational scores...
2017: Frontiers in Integrative Neuroscience
https://www.readbyqxmd.com/read/28637536/mental-health-morbidity-among-people-subject-to-immigration-detention-in-the-uk-a-feasibility-study
#4
P Sen, J Arugnanaseelan, E Connell, C Katona, A A Khan, P Moran, K Robjant, K Slade, J Tan, K Widyaratna, J Youd, A Forrester
AIMS: The UK has one of the largest systems of immigration detention in Europe.. Those detained include asylum-seekers and foreign national prisoners, groups with a higher prevalence of mental health vulnerabilities compared with the general population. In light of little published research on the mental health status of detainees in immigration removal centres (IRCs), the primary aim of this study was to explore whether it was feasible to conduct psychiatric research in such a setting...
June 22, 2017: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/28632163/melatonin-as-a-novel-interventional-candidate-for-fragile-x-syndrome-with-autism-spectrum-disorder-in-humans
#5
REVIEW
Jinyoung Won, Yunho Jin, Jeonghyun Choi, Sookyoung Park, Tae Ho Lee, Sang-Rae Lee, Kyu-Tae Chang, Yonggeun Hong
Fragile X syndrome (FXS) is the most common monogenic form of autism spectrum disorder (ASD). FXS with ASD results from the loss of fragile X mental retardation (fmr) gene products, including fragile X mental retardation protein (FMRP), which triggers a variety of physiological and behavioral abnormalities. This disorder is also correlated with clock components underlying behavioral circadian rhythms and, thus, a mutation of the fmr gene can result in disturbed sleep patterns and altered circadian rhythms. As a result, FXS with ASD individuals may experience dysregulation of melatonin synthesis and alterations in melatonin-dependent signaling pathways that can impair vigilance, learning, and memory abilities, and may be linked to autistic behaviors such as abnormal anxiety responses...
June 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28630455/autism-spectrum-disorders-and-autistic-traits-share-genetics-and-biology
#6
J Bralten, K J van Hulzen, M B Martens, T E Galesloot, A Arias Vasquez, L A Kiemeney, J K Buitelaar, J W Muntjewerff, B Franke, G Poelmans
This corrects the article DOI: 10.1038/mp.2017.98.
June 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28629540/kinetics-and-dose-dependency-of-intranasal-oxytocin-effects-on-amygdala-reactivity
#7
Franny B Spengler, Johannes Schultz, Dirk Scheele, Maximiliane Essel, Wolfgang Maier, Markus Heinrichs, René Hurlemann
BACKGROUND: Current neuroimaging perspectives on a variety of mental disorders emphasize dysfunction of the amygdala. The neuropeptide oxytocin (OXT), a key mediator in the regulation of social cognition and behavior, accumulates in cerebrospinal fluid after intranasal administration in macaques and humans and modulates amygdala reactivity in both species. However, the translation of neuromodulatory OXT effects to novel treatment approaches is hampered by the absence of studies defining the most effective dose and dose-response latency for targeting the amygdala...
May 10, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28628841/mitochondrial-dysfunction-in-autism-spectrum-disorder-clinical-features-and-perspectives
#8
REVIEW
Fiona Hollis, Alexandros K Kanellopoulos, Claudia Bagni
Autism Spectrum Disorder (ASD) is a prototypic pervasive developmental disorder characterized by social interaction, and communication deficits, repetitive, stereotypic patterns of behavior, and impairments in language and development. Clinical studies have identified mitochondrial disturbances at the levels of DNA, activity, complexes, oxidative stress, and metabolites in blood and urine of ASD patients. However, these observations from postmortem brains or peripheral tissues do not provide a direct link between autism and mitochondria...
June 16, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28627421/hla-g%C3%A2-14bp-insertion-and-the-kir2ds1-hlac2-complex-impact-on-behavioral-impairment-in-children-with-autism-spectrum-disorders
#9
Franca R Guerini, Elisabetta Bolognesi, Matteo Chiappedi, Alessandro Ghezzo, Salvatorica Manca, Michela Zanette, Stefano Sotgiu, Maria Martina Mensi, Milena Zanzottera, Cristina Agliardi, Andrea S Costa, Umberto Balottin, Mario Clerici
Activating KIRs-HLA-C ligands complexes and HLA-G∗14bp insertion/deletion (+/-) polymorphism were associated to Autism Spectrum Disorders (ASD) and were suggested to correlate with inflammation during fetal development. We evaluated whether HLA-G∗14bp(+/-) and KIRs-HLA-C complexes are associated with cognitive and behavioral scores and EEG profile in 119 ASD children (58 from Sardinia, 61 from Peninsular Italy). KIR2DS1-C2; KIR2DS2-C1; KIR2DL1-C2; KIR2DL2-C1; KIR2DL3-C1 and HLA-G∗14bp(+/-) were molecularly genotyped by SSP and gel electrophoresis...
June 13, 2017: Neuroscience
https://www.readbyqxmd.com/read/28626029/a-homozygous-founder-mutation-in-trappc6b-associates-with-a-neurodevelopmental-disorder-characterised-by-microcephaly-epilepsy-and-autistic-features
#10
Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, Basak Rosti, Mahmoud Y Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L Silhavy, Valentina Stanley, Rasim O Rosti, Jeremy W Gleeson, Farhad B Imam, Maha S Zaki, Joseph G Gleeson
BACKGROUND: Transport protein particle (TRAPP) is a multisubunit complex that regulates membrane trafficking through the Golgi apparatus. The clinical phenotype associated with mutations in various TRAPP subunits has allowed elucidation of their functions in specific tissues. The role of some subunits in human disease, however, has not been fully established, and their functions remain uncertain. OBJECTIVE: We aimed to expand the range of neurodevelopmental disorders associated with mutations in TRAPP subunits by exome sequencing of consanguineous families...
June 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28625946/educational-needs-of-epileptologists-regarding-psychiatric-comorbidities-of-the-epilepsies-a-descriptive-quantitative-survey
#11
Marco Mula, Esper Cavalheiro, Alla Guekht, Andres M Kanner, Hyang Woon Lee, Cigdem Ozkara, Alfredo Thomson, Sarah J Wilson
Psychiatric disorders are relatively frequent comorbidities in epilepsy and they have an impact on morbidity, mortality, and quality of life. This is a report from the Task Force on Education of the ILAE Commission on Neuropsychiatry based on a survey about educational needs of epileptologists regarding management of the psychiatric comorbidities of epilepsy. The Task Force designed a quantitative questionnaire to survey the self-perceived confidence of child and adult epileptologists and psychiatrists in managing major psychiatric comorbidities of epilepsy to identify: (1) critical areas of improvement from a list of skills that are usually considered necessary for effective management of these conditions, and (2) the preferred educational format for improving these skills...
June 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28622159/weeding-out-the-justification-for-marijuana-treatment-in-patients-with-developmental-and-behavioral-conditions
#12
Theodora Nelson, Yi Hui Liu, Kara S Bagot, Martin T Stein
Alex is a 13-year-old adolescent with high-functioning autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD)-combined type, anxiety, and depression. He has been resistant to engaging in therapy and treatment with various medications has been unsuccessful. Alex's parents are concerned about his anxiety, isolation, oppositional behaviors, academic underachievement, truancy, and substance use. A recent altercation with his stepfather led to a police intervention and a brief removal of Alex from the home...
June 15, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28620892/a-prospective-study-of-the-concordance-of-dsm-iv-and-dsm-5-diagnostic-criteria-for-autism-spectrum-disorder
#13
Micah O Mazurek, Frances Lu, Heather Symecko, Eric Butter, Nicole M Bing, Rachel J Hundley, Marie Poulsen, Stephen M Kanne, Eric A Macklin, Benjamin L Handen
The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. Concordance and discordance were assessed using a consistent diagnostic battery. DSM-5 criteria demonstrated excellent overall specificity and good sensitivity relative to DSM-IV criteria...
June 16, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28617347/repetitive-behaviours-and-restricted-interests-in-individuals-with-down-syndrome-one-way-of-managing-their-world
#14
Sheila Glenn
This paper argues that the repetitive behaviour and restrictive interests (RBRI) displayed by individuals with Down syndrome have mostly positive functions. However, as research has developed from interests in Obsessional Compulsive Disorder or Autistic Spectrum Disorder, unfortunately a view has arisen that RBRI in individuals with Down syndrome are also likely to be pathological. This is particularly the case in adults. The paper reviews: (a) measures employed and the perspectives that have been used; (b) the development in typically developing individuals, those with Down syndrome, and those with other conditions associated with intellectual disability; (c) positive and possible negative effects of RBRI; and (d) the need for more research...
June 15, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28612411/deficits-in-temporal-processing-in-mice-prenatally-exposed-to-valproic-acid
#15
Julieta Acosta, Marcos A Campolongo, Christian Höcht, Amaicha M Depino, Diego A Golombek, Patricia V Agostino
Temporal processing in the seconds-to-minutes range, known as interval timing, is a crucial cognitive function that requires activation of cortico-striatal circuits via dopaminergic-glutamatergic pathways. In humans, both children and adults with autism spectrum disorders (ASD) present alterations in their estimation of time intervals. At present, there are no records of interval timing studies in animal models of ASD. Hence, the objective of the present work was to evaluate interval timing in a mouse model of prenatal exposure to valproic acid (VPA) - a treatment used to induce human-like autistic features in rodent models...
June 14, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28612373/reduced-reward-related-neural-response-to-mimicry-in-individuals-with-autism
#16
C-T Hsu, J Neufeld, B Chakrabarti
Mimicry is a facilitator of social bonds in humans, from infancy. This facilitation is made possible through changing the reward value of social stimuli, e.g. we like and affiliate more with people who mimic us. Autism Spectrum Disorders (ASD) are marked by difficulties in forming social bonds. In this study, we investigate whether the reward-related neural response to being mimicked is altered in individuals with ASD, using a simple conditioning paradigm. Multiple studies in humans and nonhuman primates have established a crucial role for the ventral striatal (VS) region in responding to rewards...
June 14, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28612113/gluten-and-casein-free-diet-and-autism-spectrum-disorders-in-children-a-systematic-review
#17
REVIEW
Anna Piwowarczyk, Andrea Horvath, Jan Łukasik, Ewa Pisula, Hania Szajewska
PURPOSE: Effective treatments for core symptoms of autism spectrum disorders (ASD) are lacking. We systematically updated evidence on the effectiveness of a gluten-free and casein-free (GFCF) diet as a treatment for ASD in children. METHODS: The Cochrane Library, MEDLINE, and EMBASE databases were searched up until August 2016, for randomized controlled trials (RCTs); additional references were obtained from reviewed articles. RESULTS: Six RCTs (214 participants) were included...
June 13, 2017: European Journal of Nutrition
https://www.readbyqxmd.com/read/28608733/differential-profiles-of-four-groups-of-children-referred-to-an-autism-diagnostic-service-in-belgium-autism-specific-hallmarks
#18
Sophie Carlier, Nastasia Kurzeja, Lesley Ducenne, Nathalie Pauwen, Christophe Leys, Véronique Delvenne
OBJECTIVE: This article aims at exploring distinctive hallmarks of autistic disorders compared to other groups presenting mimicking and/or overlapping conditions. METHOD: The exploratory study involved 196 children with autism, intellectual disability, language impairment and psycho-affective disorders previously referred to an autism diagnostic service. The autism discriminative tool (ADT), a behavioural checklist, was used to compile and analyse the children's profiles based on the clinical information gathered during diagnostic assessments...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28607477/gabaa-receptor-subunit-gene-polymorphisms-predict-symptom-based-and-developmental-deficits-in-chinese-han-children-and-adolescents-with-autistic-spectrum-disorders
#19
Shuhan Yang, Xuan Guo, Xiaopeng Dong, Yu Han, Lei Gao, Yuanyuan Su, Wei Dai, Xin Zhang
GABAA receptor subunit genes GABRB3, GABRA5, and GABRG3 located on chromosome 15q11-q13 have been implicated in the etiology of autistic spectrum disorders (ASD). This study intended to investigate the possible role of single-nucleotide polymorphisms (SNPs) present in GABRB3 (rs2081648 and rs1426217), GABRA5 (rs35586628), and GABRG3 (rs208129) genes in ASD susceptibility and symptom-based and developmental phenotypes of ASD in Chinese Han children and adolescents. 99 ASD patients and 231 age- and gender- frequency-matched typical developing (TD) controls were tested by TaqMan® genotyping assay...
June 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28602448/adaptation-of-social-and-non-social-cues-to-direction-in-adults-with-autism-spectrum-disorder-and-neurotypical-adults-with-autistic-traits
#20
Rebecca P Lawson, Jessica Aylward, Jonathan P Roiser, Geraint Rees
Perceptual constancy strongly relies on adaptive gain control mechanisms, which shift perception as a function of recent sensory history. Here we examined the extent to which individual differences in magnitude of adaptation aftereffects for social and non-social directional cues are related to autistic traits and sensory sensitivity in healthy participants (Experiment 1); and also whether adaptation for social and non-social directional cues is differentially impacted in adults with Autism Spectrum Disorder (ASD) relative to neurotypical (NT) controls (Experiment 2)...
May 17, 2017: Developmental Cognitive Neuroscience
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