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https://www.readbyqxmd.com/read/28103279/aristaless-related-homeobox-arx-interacts-with-%C3%AE-catenin-bcl9-and-p300-to-regulate-canonical-wnt-signaling
#1
Il-Taeg Cho, Youngshin Lim, Jeffrey A Golden, Ginam Cho
Mutations in the Aristaless Related Homeobox (ARX) gene are associated with a spectrum of structural (lissencephaly) and functional (epilepsy and intellectual disabilities) neurodevelopmental disorders. How mutations in this single transcription factor can result in such a broad range of phenotypes remains poorly understood. We hypothesized that ARX functions through distinct interactions with specific transcription factors/cofactors to regulate unique target genes in different cell types. To identify ARX interacting proteins, we performed an unbiased proteomics screen and identified several components of the Wnt/β-catenin signaling pathway, including β-catenin (CTNNB1), B-cell CLL/lymphoma 9 (BCL9) and leucine rich repeat flightless interacting protein 2 (LRRFIP2), in cortical progenitor cells...
2017: PloS One
https://www.readbyqxmd.com/read/28102992/environmental-factors-associated-with-autism-spectrum-disorder-a-scoping-review-for-the-years-2003-2013
#2
M Ng, J G de Montigny, M Ofner, M T Do
INTRODUCTION: The number of children diagnosed with autism spectrum disorder (ASD) has been rapidly rising in the past decade. The etiology of this disorder, however, is largely unknown, although the environmental relative to the genetic contribution is substantial. We conducted a scoping review to comprehensively assess the current state of knowledge of the environmental factors present from preconception to early life associated with ASD, and to identify research gaps. METHODS: We searched electronic databases MEDLINE, PsycINFO and ERIC for articles on potential risk factors or protective factors from the physical and social environments associated with ASD and its subclassifications published between 1 January, 2003, and 12 July, 2013...
January 2017: Health Promotion and Chronic Disease Prevention in Canada
https://www.readbyqxmd.com/read/28102978/pretreatment-cardiometabolic-status-in-youth-with-early-onset-psychosis-baseline-results-from-the-tea-trial
#3
Karsten G Jensen, Christoph U Correll, Ditte Rudå, Dea G Klauber, Marie Stentebjerg-Olesen, Birgitte Fagerlund, Jens Richardt Møllegaard Jepsen, Anders Fink-Jensen, Anne Katrine Pagsberg
OBJECTIVE: To describe pretreatment cardiometabolic constitution in children and adolescents with first-episode psychosis (FEP). METHODS: Baseline cardiometabolic assessment was performed in youths aged 12-17 years with FEP entering the Tolerability and Efficacy of Antipsychotics (TEA) trial and matched healthy controls. Patients were included between June 10, 2010, and January 29, 2014. ICD-10 was used as the diagnostic classification system. Cardiometabolic risk markers were compared between patients versus controls and antipsychotic-naive versus antipsychotic-exposed patients...
January 17, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28102862/mutation-spectrum-in-the-abcc6-gene-and-genotype-phenotype-correlations-in-a-french-cohort-with-pseudoxanthoma-elasticum
#4
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique P Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE. METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant topographic analysis and genotype-phenotype correlation analysis were performed according to the number and type of identified variants...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102705/the-acetyl-code-in-rheumatoid-arthritis-and-other-rheumatic-diseases
#5
Chiara Angiolilli, Dominique L Baeten, Timothy R Radstake, Kris A Reedquist
Growing evidence supports the idea that aberrancies in epigenetic processes contribute to the onset and progression of human immune-mediated inflammatory diseases, such as rheumatoid arthritis (RA). Epigenetic regulators of histone tail modifications play a role in chromatin accessibility and transcriptional responses to inflammatory stimuli. Among these, histone deacetylases (HDACs) regulate the acetylation status of histones and nonhistone proteins, essential for immune responses. Broad-spectrum HDAC inhibitors are well-known anti-inflammatory agents and reduce disease severity in animal models of arthritis; however, selective HDAC inhibitors remain poorly studied...
January 19, 2017: Epigenomics
https://www.readbyqxmd.com/read/28102641/evidence-of-a-reduction-over-time-in-the-behavioral-severity-of-autistic-disorder-diagnoses
#6
Andrew J O Whitehouse, Matthew N Cooper, Keely Bebbington, Gail Alvares, Ashleigh Lin, John Wray, Emma J Glasson
The increasing prevalence of Autism Spectrum Disorders (ASD) may in part be due to a shift in the diagnostic threshold that has led to individuals with a less severe behavioral phenotype receiving a clinical diagnosis. This study examined whether there were changes over time in the qualitative and quantitative phenotype of individuals who received the diagnosis of Autistic Disorder. Data were from a prospective register of new diagnoses in Western Australia (n = 1252). From 2000 to 2006, we examined differences in both the percentage of newly diagnosed cases that met each criterion as well as severity ratings of the behaviors observed (not met, partially met, mild/moderate and extreme)...
January 19, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28102566/annual-research-review-understudied-populations-within-the-autism-spectrum-current-trends-and-future-directions-in-neuroimaging-research
#7
REVIEW
Allison Jack, Kevin A Pelphrey
BACKGROUND: Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental conditions that vary in both etiology and phenotypic expression. Expressions of ASD characterized by a more severe phenotype, including autism with intellectual disability (ASD + ID), autism with a history of developmental regression (ASD + R), and minimally verbal autism (ASD + MV) are understudied generally, and especially in the domain of neuroimaging. However, neuroimaging methods are a potentially powerful tool for understanding the etiology of these ASD subtypes...
January 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28102493/a-meta-analysis-of-working-memory-impairments-in-autism-spectrum-disorders
#8
REVIEW
Ya Wang, Yi-Bing Zhang, Lu-Lu Liu, Ji-Fang Cui, Jing Wang, David H K Shum, Therese van Amelsvoort, Raymond C K Chan
Autism spectrum disorders (ASD) are characterized by executive dysfunction, and working memory (WM) comprises one core component of executive function. Many studies have investigated WM impairments in individuals with ASD, however, a conclusive agreement has not been reached. The present study provided a meta-analytic review of WM impairments in individuals with ASD and evaluated potential moderating variables of this problem. Twenty-eight studies were included in this study, and the participants comprised 819 individuals with ASD and 875 healthy controls...
January 19, 2017: Neuropsychology Review
https://www.readbyqxmd.com/read/28102228/maternal-immune-activation-causes-behavioral-impairments-and-altered-cerebellar-cytokine-and-synaptic-protein-expression
#9
Gurudutt Pendyala, Shinnyi Chou, Yoosun Jung, Pierluca Coiro, Elizabeth Spartz, Ragunathan Padmashri, Ming Li, Anna Dunaevsky
Emerging epidemiology studies indicate that maternal immune activation (MIA) resulting from inflammatory stimuli such as viral or bacterial infections during pregnancy serves as a risk factor for multiple neurodevelopmental disorders including autism spectrum disorders and schizophrenia. Although alterations in the cortex and hippocampus of MIA offspring have been described, less evidence exists on the impact on the cerebellum. Here, we report altered expression of cytokines and chemokines in the cerebellum of MIA offspring, including increase in the neuroinflammatory cytokine TNF-α and its receptor TNFR1...
January 19, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28102151/pleiotropic-genetic-effects-influencing-sleep-and-neurological-disorders
#10
REVIEW
Olivia J Veatch, Brendan T Keenan, Philip R Gehrman, Beth A Malow, Allan I Pack
Research evidence increasingly points to the large impact of sleep disturbances on public health. Many aspects of sleep are heritable and genes influencing traits such as timing, EEG characteristics, sleep duration, and response to sleep loss have been identified. Notably, large-scale genome-wide analyses have implicated numerous genes with small effects on sleep timing. Additionally, there has been considerable progress in the identification of genes influencing risk for some neurological sleep disorders. For restless legs syndrome, implicated variants are typically in genes associated with neuronal development...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28101892/an-assessment-of-differential-reinforment-procedures-for-learners-with-autism-spectrum-disorder
#11
Kate A Johnson, Jason C Vladescu, Tiffany Kodak, Tina M Sidener
Differential reinforcement procedures may promote unprompted correct responding, resulting in a quicker transfer of stimulus control than nondifferential reinforcement. Recent studies that have compared reinforcement arrangements have found that the most effective arrangement may differ across participants. The current study conducted an assessment of differential reinforcement arrangements (i.e., quality, schedule, and magnitude) and nondifferential reinforcement to identify the most effective arrangement for each participant...
January 19, 2017: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/28101845/feasibility-acceptability-and-preliminary-treatment-outcomes-in-a-school-based-cbt-intervention-program-for-adolescents-with-asd-and-anxiety-in-singapore
#12
Irene E Drmic, Mariam Aljunied, Judy Reaven
Adolescents with autism spectrum disorder (ASD) are at high risk for anxiety difficulties and disorders. Clinic-based cognitive behavioral therapy (CBT) is effective; however, few published school-based CBT programs for youth with ASD exist. In this study, the Facing Your Fears CBT protocol was adapted for delivery and piloted within a school setting by non-clinicians, with culturally appropriate adaptations. 44 13-15 aged youth with ASD from 22 mainstream schools in Singapore participated. Feasibility, acceptability and preliminary treatment outcomes were examined...
January 18, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28101829/autism-spectrum-disorders%C3%A2-diagnosis-and-management
#13
REVIEW
Sharmila Banerjee Mukherjee
Autism Spectrum Disorder (ASD) is a neuro-developmental disorder commonly seen in children. It is characterized by age inappropriate, impaired social communication and the presence of stereotypic behavior. This disorder is hypothesized to result from cerebral dysfunction arising from a complex interaction between genetic, epigenetic and environmental factors. ASD should be suspected in children failing ASD specific screening tests, in the presence of red flags in social, language and/or play domains, in children with developmental or language delay, abnormal behavior, poor school performance or in those who are at high risk...
January 19, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28101360/successful-treatment-of-anti-nmda-receptor-encephalitis-with-a-prompt-ovarian-tumour-removal-and-prolonged-course-of-plasmapheresis-a-case-report
#14
Elzbieta Rypulak, Michal Borys, Pawel Piwowarczyk, Magdalena Fijalkowska, Beata Potrec, Justyna Sysiak, Janusz Spustek, Alicja Bartkowska-Sniatkowska, Jan Kotarski, Waldemar A Turski, Konrad Rejdak, Miroslaw Czuczwar
Anti-N-methyl-d-aspartate-receptor (NMDAR) encephalitis is an uncommon autoimmune disorder with a wide spectrum of neuropsychiatric symptoms. There is a great requirement to emphasize the importance of a multidisciplinary team approach in the process of diagnosis and treatment of the potentially fatal condition, including psychiatrists, neurologists, gynaecologists and intensivists. Physicians must be aware that psychiatric and neurological disorders, which are typical features for NMDAR encephalitis in young women with ovarian tumours, may progress into status epilepticus and respiratory insufficiency...
December 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28100473/delineating-the-phenotypic-spectrum-of-bainbridge-ropers-syndrome-12-new-patients-with-de-novo-heterozygous-loss-of-function-mutations-in-asxl3-and-review-of-published-literature
#15
M Balasubramanian, J Willoughby, A E Fry, A Weber, H V Firth, C Deshpande, J N Berg, K Chandler, K A Metcalfe, W Lam, D Pilz, S Tomkins
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) gene. To date, there have been fewer than 10 reported patients. OBJECTIVES: Here, we delineate the BRPS phenotype further by describing a series of 12 previously unreported patients identified by the Deciphering Developmental Disorders study. METHODS: Trio-based exome sequencing was performed on all 12 patients included in this study, which found a de novo truncating mutation in ASXL3...
January 18, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28100408/increased-cerebrospinal-fluid-progranulin-correlates-with-interleukin-6-in-the-acute-phase-of-neuromyelitis-optica-spectrum-disorder
#16
Akio Kimura, Masao Takemura, Kuniaki Saito, Ginette Serrero, Nobuaki Yoshikura, Yuichi Hayashi, Takashi Inuzuka
We examined progranulin (PGRN) levels in cerebrospinal fluid (CSF) samples during the acute phase in 15 patients with neuromyelitis optica spectrum disorders (NMOSD) and compared the results with those from 17 patients with multiple sclerosis (MS), 30 patients with other inflammatory neurological diseases (OIND), and 20 non-inflammatory controls (NIC). CSF PGRN levels of NMOSD patients were significantly higher than those of MS patients and NICs. These levels correlated with CSF interleukin-6 levels, CSF cell counts, CSF protein levels, improvements in the Expanded Disability Status Scale score, and affected total spinal cord lesion length in the NMOSD patients...
January 12, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28099978/association-of-perinatal-risk-factors-with-autism-spectrum-disorder
#17
Darios Getahun, Michael J Fassett, Morgan R Peltier, Deborah A Wing, Anny H Xiang, Vicki Chiu, Steven J Jacobsen
Objective To examine the association between exposures to perinatal factors and autism spectrum disorders (ASD). Study Design A retrospective cohort study of ASD among children born in Kaiser Permanente Southern California hospitals between 1991 and 2009 (n = 594,638). Medical records were used to determine exposure to perinatal (antepartum and intrapartum) complications. ASD was diagnosed using DSM-IV criteria. Multivariable Cox regression was used to estimate hazard ratios (HRs). Result Children with ASD were more likely to be exposed to perinatal complications (HR = 1...
January 18, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28099769/persistent-serious-mental-illness-among-former-applicants-for-va-ptsd-disability-benefits-and-long-term-outcomes-symptoms-functioning-and-employment
#18
Maureen Murdoch, Michele Roxanne Spoont, Shannon Marie Kehle-Forbes, Eileen Mae Harwood, Nina Aileen Sayer, Barbara Ann Clothier, Ann Kay Bangerter
: Millions of U.S. veterans have returned from military service with posttraumatic stress disorder (PTSD), for which a substantial number receive U.S. Department of Veterans Affairs (VA) disability benefits. Although PTSD is treatable, comorbid serious mental illness (defined here as schizophrenia, schizoaffective disorder, and bipolar spectrum disorders) could complicate these veterans' recovery. Using VA administrative data, we examined the burden of persistent serious mental illness in a nationally representative cohort of 1,067 men and 1,513 women who applied for VA PTSD disability benefits between 1994 and 1998 and served during or after the Vietnam conflict...
January 18, 2017: Journal of Traumatic Stress
https://www.readbyqxmd.com/read/28099628/elevated-plasma-concentrations-of-s100-calcium-binding-protein-b-and-tumor-necrosis-factor-alpha-in-children-with-autism-spectrum-disorders
#19
Selin Aktan Guloksuz, Osman Abali, Esin Aktas Cetin, Sema Bilgic Gazioglu, Gunnur Deniz, Abdurrahman Yildirim, Ivana Kawikova, Sinan Guloksuz, James F Leckman
Objective: To investigate plasma concentrations of S100B (a calcium-binding protein derived primarily from the glia) and inflammatory cytokines in children with autism and the relationship between S100B and cytokine concentrations. Methods: Plasma levels of S100B, tumor necrosis factor alpha (TNF-α), interferon gamma, interleukin (IL)-1β, IL-4, IL-6, IL-10, and IL-17A were measured in 40 unmedicated children with autism and 35 normally developing healthy children...
January 12, 2017: Revista Brasileira de Psiquiatria
https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#20
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
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