keyword
https://read.qxmd.com/read/38421437/the-polymorphisms-of-candidate-pharmacokinetic-and-pharmacodynamic-genes-and-their-pharmacogenetic-impacts-on-the-effectiveness-of-risperidone-maintenance-therapy-among-saudi-children-with-autism
#1
JOURNAL ARTICLE
Sireen Abdul Rahim Shilbayeh, Iman Sharaf Adeen, Ayman Shawqi Alhazmi, Haya Aljurayb, Rana Saad Altokhais, Nourah Alhowaish, Khawlah Essa Aldilaijan, Mostafa Kamal, Anwar Mansour Alnakhli
BACKGROUND: Antipsychotics, including risperidone (RIS), are frequently indicated for various autism spectrum disorder (ASD) manifestations; however, "actionable" PGx testing in psychiatry regarding antipsychotic dosing and selection has limited applications in routine clinical practice because of the lack of standard guidelines, mostly due to the inconsistency and scarcity of genetic variant data. The current study is aimed at examining the association of RIS effectiveness, according to ABC-CV and CGI indexes, with relevant pharmacokinetics (PK) and pharmacodynamics (PD) genes...
February 29, 2024: European Journal of Clinical Pharmacology
https://read.qxmd.com/read/38418646/neurexin1%C3%AE-knockout-in-rats-causes-aberrant-social-behaviour-relevance-for-autism-and-schizophrenia
#2
JOURNAL ARTICLE
E J Marijke Achterberg, Barbara Biemans, Louk J M J Vanderschuren
RATIONALE: Genetic and environmental factors cause neuropsychiatric disorders through complex interactions that are far from understood. Loss-of-function mutations in synaptic proteins like neurexin1α have been linked to autism spectrum disorders (ASD) and schizophrenia (SCZ), both characterised by problems in social behaviour. Childhood social play behaviour is thought to facilitate social development, and lack of social play may precipitate or exacerbate ASD and SCZ. OBJECTIVE: To test the hypothesis that an environmental insult acts on top of genetic vulnerability to precipitate psychiatric-like phenotypes...
February 29, 2024: Psychopharmacology
https://read.qxmd.com/read/38393835/pharmacological-management-of-fragile-x-syndrome-a-systematic-review-and-narrative-summary-of-the-current-evidence
#3
REVIEW
Lance V Watkins, Seungyoun Moon, Lisa Burrows, Samuel Tromans, Julian Barwell, Rohit Shankar
INTRODUCTION: Fragile X Syndrome (FXS) is the most common inherited cause of Intellectual Disability. There is a broad phenotype that includes deficits in cognition and behavioral changes, alongside physical characteristics. Phenotype depends upon the level of mutation in the FMR1 ( Fragile X Messenger Ribonucleoprotein 1) gene. The molecular understating of the impact of the FMR1 gene mutation provides an opportunity to target treatment not only at symptoms, but on a molecular level...
February 23, 2024: Expert Opinion on Pharmacotherapy
https://read.qxmd.com/read/38384198/effects-of-low-dose-ionizing-radiation-on-the-molecular-pathways-linking-neurogenesis-and-autism-spectrum-disorders-in-zebrafish-embryos
#4
JOURNAL ARTICLE
Burcu Yeliz Kollayan, Derya Cansiz, Merih Beler, Ismail Unal, Ebru Emekli-Alturfan, Sebnem Ercalik Yalcinkaya
Prenatal exposure to environmental factors may play an important role in the aetiopathogenesis of autism spectrum disorder (ASD). We aim to investigate the potential effects of low-dose x-rays from dental diagnostic x-rays on neurodevelopment and molecular mechanisms associated with ASD in developing zebrafish embryos. Zebrafish embryos were divided into four groups and exposed using a dental x-ray unit: control, 0.08, 0.15 and 0.30 seconds, which are exemplary exposure settings for periapical imaging...
February 21, 2024: Drug and Chemical Toxicology
https://read.qxmd.com/read/38378692/the-spectrum-of-neurological-presentation-in-individuals-affected-by-tbl1xr1-gene-defects
#5
JOURNAL ARTICLE
Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D'Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M Neumeyer, Florian S Eichler
BACKGROUND: TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood. METHODS: We developed and distributed a survey to two closed Facebook groups devoted to families of patients with TBL1XR1-related disorder...
February 20, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38375040/exploratory-focused-pharmacogenetic-testing-reveals-novel-markers-associated-with-risperidone-pharmacokinetics-in-saudi-children-with-autism
#6
JOURNAL ARTICLE
Sireen Abdul Rahim Shilbayeh, Iman Sharaf Adeen, Ezzeldeen Hasan Ghanem, Haya Aljurayb, Khawlah Essa Aldilaijan, Fatimah AlDosari, Abeer Fadda
Background: Autism spectrum disorders (ASDs) encompass a broad range of phenotypes characterized by diverse neurological alterations. Genomic studies have revealed considerable overlap between the molecular mechanisms implicated in the etiology of ASD and genes involved in the pharmacokinetic (PK) and pharmacodynamic (PD) pathways of antipsychotic drugs employed in ASD management. Given the conflicting data originating from candidate PK or PD gene association studies in diverse ethnogeographic ASD populations, dosage individualization based on "actionable" pharmacogenetic (PGx) markers has limited application in clinical practice...
2024: Frontiers in Pharmacology
https://read.qxmd.com/read/38372284/creb-a-promising-therapeutic-target-for-treating-psychiatric-disorders
#7
JOURNAL ARTICLE
Wei Guan, Mei-Xin Ni, Hai-Juan Gu, Yang Yang
Psychiatric disorders are complex, multifactorial illnesses. It is challenging for us to understand the underlying mechanism of psychiatric disorders. In recent years, the morbidity of psychiatric disorders has increased yearly, causing huge economic losses to the society. Although some progress, such as psychotherapy drugs and electroconvulsive therapy, has been made in the treatment of psychiatric disorders, including depression, anxiety, bipolar disorder, obsessive-compulsive and autism spectrum disorders, antidepressants and psychotropic drugs have the characteristics of negative effects and high rate of relapse...
February 19, 2024: Current Neuropharmacology
https://read.qxmd.com/read/38301979/bisphenol-f-affects-neurodevelopmental-gene-expression-mushroom-body-development-and-behavior-in-drosophila-melanogaster
#8
JOURNAL ARTICLE
Judith L A Fishburn, Heather L Larson, An Nguyen, Chloe J Welch, Taylor Moore, Aliyah Penn, Johnathan Newman, Anthony Mangino, Erin Widman, Rana Ghobashy, Jocelyn Witherspoon, Wendy Lee, Kimberly A Mulligan
Bisphenol F (BPF) is a potential neurotoxicant used as a replacement for bisphenol A (BPA) in polycarbonate plastics and epoxy resins. We investigated the neurodevelopmental impacts of BPF exposure using Drosophila melanogaster as a model. Our transcriptomic analysis indicated that developmental exposure to BPF caused the downregulation of neurodevelopmentally relevant genes, including those associated with synapse formation and neuronal projection. To investigate the functional outcome of BPF exposure, we evaluated neurodevelopmental impacts across two genetic strains of Drosophila- w1118 (control) and the Fragile X Syndrome (FXS) model-by examining both behavioral and neuronal phenotypes...
January 30, 2024: Neurotoxicology and Teratology
https://read.qxmd.com/read/38260618/rapid-effects-of-valproic-acid-on-the-fetal-brain-transcriptome-implications-for-brain-development-and-autism
#9
Bruce Krueger, Susan Dorsey, Evelina Mocci, Malcolm Lane
There is an increased incidence of autism among the children of women who take the anti-epileptic, mood-stabilizing drug, valproic acid (VPA) during pregnancy; moreover, exposure to VPA in utero causes autistic-like symptoms in rodents and non-human primates. Analysis of RNA-seq data obtained from E12.5 fetal mouse brains 3 hours after VPA administration to the pregnant dam revealed that VPA rapidly and significantly increased or decreased the expression of approximately 7,300 genes. No significant sex differences in VPA-induced gene expression were observed...
January 10, 2024: Research Square
https://read.qxmd.com/read/38229920/reciprocal-crosslink-among-mecp2-bdnf-creb-signaling-pinpointed-in-autism-spectrum-disorder
#10
JOURNAL ARTICLE
Ahlam H Mahmoud, Doaa M Elhefnawei, Mohamed A El-Desouky, Mai O Kadry
Autism spectrum disorder, or individual disability (ID), is a condition characterized by complications in social interaction, restricted repetitive behavior, and difficulties in social communication. Neuquinon (NQ) possess a powerful therapeutic potential in various neurodegenerative disease. Nevertheless, contributing to NQ's low water solubility and bioavailability, its medicinal use has been constrained. Liposomes were supposed to be prospective drug-delivering agents for NQ, crossing the blood-brain barrier (BBB), and reaching the target organs...
June 2024: Toxicology Reports
https://read.qxmd.com/read/38226317/a-novel-combination-treatment-for-fragile-x-syndrome-predicted-using-computational-methods
#11
JOURNAL ARTICLE
Wayne Chadwick, Ivan Angulo-Herrera, Patricia Cogram, Robert J M Deacon, Daniel J Mason, David Brown, Ian Roberts, Daniel J O'Donovan, Michael R Tranfaglia, Tim Guilliams, Neil T Thompson
Fragile X syndrome is a neurodevelopmental disorder caused by silencing of the fragile X messenger ribonucleotide gene. Patients display a wide spectrum of symptoms ranging from intellectual and learning disabilities to behavioural challenges including autism spectrum disorder. In addition to this, patients also display a diversity of symptoms due to mosaicism. These factors make fragile X syndrome a difficult syndrome to manage and suggest that a single targeted therapeutic approach cannot address all the symptoms...
2024: Brain communications
https://read.qxmd.com/read/38187577/cyfip2-controls-the-acoustic-startle-threshold-through-fmrp-actin-polymerization-and-gaba-b-receptor-function
#12
Jacob C Deslauriers, Rohit P Ghotkar, Lindsey A Russ, Jordan A Jarman, Rubia A Martin, Rachel G Tippett, Sureni H Sumathipala, Derek F Burton, D Chris Cole, Kurt C Marsden
Animals process a constant stream of sensory input, and to survive they must detect and respond to dangerous stimuli while ignoring innocuous or irrelevant ones. Behavioral responses are elicited when certain properties of a stimulus such as its intensity or size reach a critical value, and such behavioral thresholds can be a simple and effective mechanism to filter sensory information and determine if a response is appropriate. For example, the acoustic startle response is a conserved and stereotyped defensive behavior induced by sudden loud sounds, but dysregulation of the threshold to initiate this behavior can result in startle hypersensitivity that is associated with sensory processing disorders including schizophrenia and autism...
December 22, 2023: bioRxiv
https://read.qxmd.com/read/38170320/mice-with-an-autism-associated-r451c-mutation-in-neuroligin-3-show-intact-attention-orienting-but-atypical-responses-to-methylphenidate-and-atomoxetine-in-the-mouse-posner-task
#13
JOURNAL ARTICLE
Shuting Li, Carlos May, Terence Y Pang, Leonid Churilov, Anthony J Hannan, Katherine A Johnson, Emma L Burrows
RATIONALE: Atypical attention orienting has been associated with some autistic symptoms, but the neural mechanisms remain unclear. The human Posner task, a classic attention orienting paradigm, was recently adapted for use with mice, supporting the investigation of the neurobiological underpinnings of atypical attention orienting in preclinical mouse models. OBJECTIVE: The current study tested mice expressing the autism-associated R451C gene mutation in neuroligin-3 (NL3) on the mouse-Posner (mPosner) task...
January 3, 2024: Psychopharmacology
https://read.qxmd.com/read/38166458/genetic-association-of-lipids-and-lipid-lowering-drug-target-genes-with-attention-deficit-hyperactivity-disorder
#14
JOURNAL ARTICLE
Detong Guo, Wenchao Sheng, Yingzi Cai, Jianbo Shu, Chunquan Cai
BACKGROUND: Lipid metabolism plays an essential role in nervous system development. Cholesterol deficiency leads to a variety of neurodevelopmental disorders, such as autism spectrum disorder and fragile X syndrome. There have been a lot of efforts to search for biological markers associated with and causal to ADHD, among which lipid is one possible etiological factor that is quite widely studied. We aimed to evaluate the causal relationship between lipids traits, lipid-lowering drugs, and attention deficit hyperactivity disorder (ADHD) outcomes using Mendelian randomization (MR) studies...
January 3, 2024: Journal of Attention Disorders
https://read.qxmd.com/read/38134649/clinical-phenotype-and-genetic-characteristics-of-szt2-related-diseases-a-case-report-and-literature-review
#15
REVIEW
Xin Zhang, Yuzeng Han, Li Yang, Na Xu, Liping Zhu, Shiyan Qiu, Yufen Li, Liyun Xu, Xixi Yu
PURPOSE: Seizure threshold 2 protein homolog gene (SZT2, MIM: 615463) related diseases are extremely rare autosomal recessive disorders with a wide spectrum of clinical phenotypes ranging from mild intellectual impairment to severe developmental epileptic encephalopathy (DEE). Most SZT2 related diseases are accompanied by craniofacial malformation and corpus callosum malformation. This study attempts to analyze and summarize the clinical phenotype and genetic characteristics of SZT2 related diseases, providing a basis for early diagnosis, treatment, and prognosis...
January 2024: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/38123724/disrupted-extracellular-matrix-and-cell-cycle-genes-in-autism-associated-shank3-deficiency-are-targeted-by-lithium
#16
JOURNAL ARTICLE
Valentin Ioannidis, Rakshita Pandey, Helen Friedericke Bauer, Michael Schön, Jürgen Bockmann, Tobias M Boeckers, Anne-Kathrin Lutz
The Shank3 gene encodes the major postsynaptic scaffolding protein SHANK3. Its mutation causes a syndromic form of autism spectrum disorder (ASD): Phelan-McDermid Syndrome (PMDS). It is characterized by global developmental delay, intellectual disorders (ID), ASD behavior, affective symptoms, as well as extra-cerebral symptoms. Although Shank3 deficiency causes a variety of molecular alterations, they do not suffice to explain all clinical aspects of this heterogenic syndrome. Since global gene expression alterations in Shank3 deficiency remain inadequately studied, we explored the transcriptome in vitro in primary hippocampal cells from Shank3∆11(-/-) mice, under control and lithium (Li) treatment conditions, and confirmed the findings in vivo...
December 20, 2023: Molecular Psychiatry
https://read.qxmd.com/read/37974187/perampanel-effectiveness-in-treating-rogdi-related-kohlsch%C3%A3-tter-t%C3%A3-nz-syndrome-first-reported-case-in-china-and-literature-review
#17
JOURNAL ARTICLE
Linxue Meng, Dishu Huang, Lingling Xie, Xiaojie Song, Hanyu Luo, Jianxiong Gui, Ran Ding, Xiaofang Zhang, Li Jiang
PURPOSE: This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases. METHODS: This patient was registered at the Children's Hospital of Chongqing Medical University. The patient's symptoms and treatments were recorded in detail, and the patient was monitored for six years. We employed a combination of the following search terms and Boolean operators in our search strategy: Kohlschütter-Tönz syndrome, KTS, and ROGDI...
November 16, 2023: BMC Medical Genomics
https://read.qxmd.com/read/37964718/integrated-workflow-for-the-identification-of-new-gaba-positive-allosteric-modulators-based-on-the-in-silico-screening-with-further-in-vitro-validation-case-study-using-enamine-s-stock-chemical-space
#18
JOURNAL ARTICLE
Alexey Rayevsky, Maksym Platonov, Oleksandr Maximyuk, Olena Iegorova, Vasyl Hurmach, Yuliia Holota, Bulgakov Elijah, Andrii Cherninskyi, Karpov Pavel, Sergey Ryabukhin, Oleg Krishtal, Dmitriy Volochnyuk
Numerous studies reported an association between GABA A R subunit genes and epilepsy, eating disorders, autism spectrum disorders, neurodevelopmental disorders, and bipolar disorders. This study was aimed to find some potential positive allosteric modulators and was performed by combining the in silico approach with further in vitro evaluation of its real activity. We started from the GABA A R-diazepam complexes and assembled a lipid embedded protein ensemble to refine it via molecular dynamics (MD) simulation...
November 14, 2023: Molecular Informatics
https://read.qxmd.com/read/37964487/de-novo-variants-in-kcna3-cause-developmental-and-epileptic-encephalopathy
#19
JOURNAL ARTICLE
Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Ilenio Servettini, Francesca Pietrunti, Giorgio Belperio, Steffen Syrbe, Maurizio Taglialatela, Johannes R Lemke
OBJECTIVE: Variants in several potassium channel genes, including KCNA1 and KCNA2, cause Developmental and Epileptic Encephalopathies (DEEs). We investigated whether variants in KCNA3, another mammalian homologue of the Drosophila shaker family and encoding for Kv1.3 subunits, can cause DEE. METHODS: Genetic analysis of study individuals was performed by routine exome or genome sequencing, usually of parent-offspring trios. Phenotyping was performed via a standard clinical questionnaire...
November 14, 2023: Annals of Neurology
https://read.qxmd.com/read/37946245/a-single-center-observational-study-on-long-term-neurodevelopmental-outcomes-in-children-with-tuberous-sclerosis-complex
#20
JOURNAL ARTICLE
D Mammadova, J Vecko, M Hofmann, S C Schüssler, L Deiters, A Canda, A K Wieland, S Gollwitzer, H Hamer, Regina Trollmann
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by mutations in the TSC1 or TSC2 gene. More than 90% of patients with TSC develop neurological and/or neuropsychiatric manifestations. The aim of the present study was to determine the developmental and cognitive long-term outcomes of pediatric TSC patients. METHODS: This cross-sectional, monocenter study included pediatric TSC patients who received multidisciplinary long-term care with a last visit between 2005 and 2019...
November 9, 2023: Orphanet Journal of Rare Diseases
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