1,370 results match your criteria neurobehavioral abnormalities

The Neurological Manifestations of Phelan-McDermid Syndrome.

Yitzchak Frank

Pediatr Neurol 2021 Jun 16. Epub 2021 Jun 16.

Pediatric Neurologist, Seaver Autism Center for Research & Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:

Phelan-McDermid syndrome (PMS) is a genetic disorder, caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.3. PMS is characterized by neurobehavioral symptoms and signs including intellectual disability, speech and language impairment, autism spectrum disorder (ASD), hypotonia, and other motor abnormalities. Read More

View Article and Full-Text PDF

Clonazepam attenuates neurobehavioral abnormalities in offspring exposed to maternal immune activation by enhancing GABAergic neurotransmission.

Biochem Pharmacol 2021 Jul 26;192:114711. Epub 2021 Jul 26.

State Key Laboratory of Quality Research in Chinese Medicine and Institute of Chinese Medical Sciences, University of Macau, Macao 999078, China. Electronic address:

Ample evidence indicates that maternal immune activation (MIA) during gestation is linked to an increased risk for neurodevelopmental and psychiatric disorders, such as autism spectrum disorder (ASD), anxiety and depression, in offspring. However, the underlying mechanism for such a link remains largely elusive. Here, we performed RNA sequencing (RNA-seq) to examine the transcriptional profiles changes in mice in response to MIA and identified that the expression of Scn1a gene, encoding the pore-forming α-subunit of the brain voltage-gated sodium channel type-1 (Na1. Read More

View Article and Full-Text PDF

Cerebellar Continuous Theta Burst Stimulation Facilitates Auditory-Vocal Integration in Spinocerebellar Ataxia.

Cereb Cortex 2021 Jul 8. Epub 2021 Jul 8.

Department of Rehabilitation Medicine, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

Clinical studies have shown the efficacy of transcranial magnetic stimulation in treating movement disorders in patients with spinocerebellar ataxia (SCA). However, whether similar effects occur for their speech motor disorders remains largely unknown. The present event-related potential study investigated whether and how abnormalities in auditory-vocal integration associated with SCA can be modulated by neuronavigated continuous theta burst stimulation (c-TBS) over the right cerebellum. Read More

View Article and Full-Text PDF


Nat Rev Dis Primers 2021 07 8;7(1):49. Epub 2021 Jul 8.

Division of Psychology and Language Sciences, University College London, London, UK.

Psychopathy is a personality disorder characterized by a constellation of affective, interpersonal, lifestyle and antisocial features whose antecedents can be identified in a subgroup of young people showing severe antisocial behaviour. The prevalence of psychopathy in the general population is thought to be ~1%, but is up to 25% in prisoners. The aetiology of psychopathy is complex, with contributions of both genetic and environmental risk factors, and gene-environment interactions and correlations. Read More

View Article and Full-Text PDF

Pharmacological implications of ipriflavone against environmental metal-induced neurodegeneration and dementia in rats.

Environ Sci Pollut Res Int 2021 Jul 7. Epub 2021 Jul 7.

Biological Screening and Preclinical Trial Laboratory, Department of Biochemistry, Faculty of Science, Alexandria University, Alexandria, Egypt.

Long-term exposure to environmental neurotoxic metals is implicated in the induction of dementia and cognitive decline. The present study aims to illustrate the therapeutic role of ipriflavone as a synthetic isoflavone against environmental metal-induced cognitive impairment in rats. Dementia was induced by a mixture of aluminum, cadmium, and fluoride for 90 days followed by ipriflavone for a further 30 days. Read More

View Article and Full-Text PDF

The -Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer.

Genes (Basel) 2021 Jun 4;12(6). Epub 2021 Jun 4.

Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah P. O. Box 27272, United Arab Emirates.

The -mediated Xq28 duplication syndrome is a rare X-linked intellectual disability syndrome (XLIDS) arising from a duplication of the segment between intron 22 homologous regions 1 and 2, on the q28 subregion of the X chromosome. The main clinical features of the syndrome include intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features. Due to the X-linked nature of the syndrome, affected males exhibit more severe phenotypes compared with heterozygous females. Read More

View Article and Full-Text PDF

Perinatal fluoxetine dose-dependently affects prenatal stress-induced neurobehavioural abnormalities, HPA-axis functioning and underlying brain alterations in rat dams and their offspring.

Reprod Toxicol 2021 Jun 26;104:27-43. Epub 2021 Jun 26.

Salari Institute of Cognitive and Behavioral Disorders (SICBD), Karaj, Alborz, Iran. Electronic address:

Both untreated and SSRI antidepressant treated maternal depression during the perinatal period can pose both short-and long-term health risks to the offspring. Therefore, it is essential to have an effective SSRI treatment consisting of the lowest effective dose beneficial to the mother, without causing adverse effects on offspring development. The effects of prenatal stress on neurobehavioral outcomes were studied in the pregnant and lactating rat dam, and her offspring. Read More

View Article and Full-Text PDF

Impact of COVID-19 pandemic on sleep in children and adolescents: a systematic review and meta-analysis.

Sleep Med 2021 Jun 11;84:259-267. Epub 2021 Jun 11.

Department of Cardiology, Amcare Hospital, Zirakpur, Punjab, India.

Objective: This systematic review and meta-analysis were conducted to study the prevalence and pattern of sleep disturbances in children and adolescents during the COVID-19 pandemic.

Methods: MEDLINE, EMBASE, and Web of Science were searched for original studies describing sleep abnormalities in children and adolescents with or without pre-existing neurobehavioral disorders during the COVID-19 pandemic. The pooled estimates for various sleep abnormalities were calculated using a random-effect model. Read More

View Article and Full-Text PDF

Group A streptococcal antigen exposed rat model to investigate neurobehavioral and cardiac complications associated with post-streptococcal autoimmune sequelae.

Animal Model Exp Med 2021 Jun 8;4(2):151-161. Epub 2021 Apr 8.

School of Science & Technology University of New England Armidale NSW Australia.

Background: The neuropsychiatric disorders due to post-streptococcal autoimmune complications such as Sydenham's chorea (SC) are associated with acute rheumatic fever and rheumatic heart disease (ARF/RHD). An animal model that exhibits characteristics of both cardiac and neurobehavioral defects in ARF/RHD would be an important adjunct for future studies. Since age, gender, strain differences, and genotypes impact on the development of autoimmunity, we investigated the behavior of male and female Wistar and Lewis rat strains in two age cohorts (<6 weeks and >12 weeks) under normal husbandry conditions and following exposure to group A streptococcus (GAS). Read More

View Article and Full-Text PDF

Dexmedetomidine alleviates neuroinflammation, restores sleep disorders and neurobehavioral abnormalities in rats with minimal hepatic encephalopathy.

Int Immunopharmacol 2021 Jul 24;96:107795. Epub 2021 May 24.

Department of Anesthesiology, The Affiliated Hospital of Southwest Medical University, Luzhou, PR China. Electronic address:

The occurrence and progress of minimal hepatic encephalopathy (MHE) is closely related to the inflammatory response; however, inflammation contributes to behavioral abnormalities and sleep disorders. Dexmedetomidine has anti-inflammatory effects against various diseases. Whether dexmedetomidine improves MHE and the underlying mechanism is yet unclear. Read More

View Article and Full-Text PDF

Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders.

Biol Psychiatry 2021 Mar 23. Epub 2021 Mar 23.

Department of Psychiatry and Behavioral Neuroscience, University of Chicago, Chicago, Illinois; Department of Psychiatry and Behavioral Sciences, North Shore University Health System, Evanston, Illinois.

Background: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk.

Methods: We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH. Read More

View Article and Full-Text PDF

Alterations in circulating extracellular vesicles underlie social stress-induced behaviors in mice.

FEBS Open Bio 2021 May 27. Epub 2021 May 27.

Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Chronic stress induces peripheral and intracerebral immune changes and inflammation, contributing to neuropathology and behavioral abnormalities relevant to psychiatric disorders such as depression. Although the pathological implication of many peripheral factors such as pro-inflammatory cytokines, hormones, and macrophages has been demonstrated, the roles of circulating extracellular vesicles (EVs) for chronic stress mechanisms remain poorly investigated. Here, we report that chronic social defeat stress (CSDS)-induced social avoidance phenotype, assessed by a previously untested three-chamber social approach test, can be distinguished by multiple pro-inflammatory cytokines and EV-associated molecular signatures in the blood. Read More

View Article and Full-Text PDF

Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report.

Am J Case Rep 2021 May 20;22:e930966. Epub 2021 May 20.

Department of Pediatrics, Faculty of Medicine, Health Sciences Center, Kuwait University, Jabriya, Kuwait.

BACKGROUND X-linked intellectual disabilities constitute a group of clinically and genetically heterogeneous disorders that are divided into syndromic and nonsyndromic forms. PAK3 mutations are associated with X-linked nonsyndromic forms of intellectual disability, with the most common clinical features being cognitive deficit, large ears, oral motor hypotonia, and neurobehavioral abnormalities. These mutations have been reported to be associated with either loss of the PAK3 protein or loss of its kinase activity. Read More

View Article and Full-Text PDF

Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Methyl Metabolism and in Sex-Specific Placental Transcription Changes.

Mol Nutr Food Res 2021 07 10;65(14):e2100197. Epub 2021 Jun 10.

Departments of Human Genetics and Pediatrics, McGill University Health Center (MUHC), McGill University, Montreal, Canada.

Scope: Many pregnant women have higher folic acid (FA) intake due to food fortification and increased vitamin use. It is reported that diets containing five-fold higher FA than recommended for mice (5xFASD) during pregnancy resulted in methylenetetrahydrofolate reductase (MTHFR) deficiency and altered choline/methyl metabolism, with neurobehavioral abnormalities in newborns. The goal is to determine whether these changes have their origins in the placenta during embryonic development. Read More

View Article and Full-Text PDF

Improved spatial memory, neurobehavioral outcomes, and neuroprotective effect after progesterone administration in ovariectomized rats with traumatic brain injury: Role of RU486 progesterone receptor antagonist.

Iran J Basic Med Sci 2021 Mar;24(3):349-359

Department of Psychology, Genetic Institute, Islamic Azad University- Zarand Branch, Kerman, Iran.

Objectives: The contribution of classic progesterone receptors (PR) in interceding the neuroprotective efficacy of progesterone (P4) on the prevention of brain edema and long-time behavioral disturbances was assessed in traumatic brain injury (TBI).

Materials And Methods: Female Wistar rats were ovariectomized and apportioned into 6 groups: sham, TBI, oil, P4, vehicle, and RU486. P4 or oil was injected following TBI. Read More

View Article and Full-Text PDF

Prospective and detailed behavioral phenotyping in DDX3X syndrome.

Mol Autism 2021 May 16;12(1):36. Epub 2021 May 16.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1230, New York, NY, 10029, USA.

Background: DDX3X syndrome is a recently identified genetic disorder that accounts for 1-3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characterization of this syndrome has primarily relied on medical record review; in addition, the behavioral dimensions of the syndrome have not been fully explored.

Methods: We carried out multi-day, prospective, detailed phenotyping of DDX3X syndrome in 14 females and 1 male, focusing on behavioral, psychological, and neurological measures. Read More

View Article and Full-Text PDF

Gray matter abnormalities in Tourette Syndrome: a meta-analysis of voxel-based morphometry studies.

Transl Psychiatry 2021 05 14;11(1):287. Epub 2021 May 14.

Huaxi MR Research Center (HMRRC), Department of Radiology, West China Hospital of Sichuan University, Chengdu, 610041, China.

Tourette syndrome (TS) is a neurobehavioral disorder for which the neurological mechanism has not been elucidated. Voxel-based morphometry (VBM) studies have revealed abnormalities in gray matter volume (GMV) in patients with TS; however, consistent results have not been obtained. The current study attempted to provide a voxel wise meta-analysis of gray matter changes using seed-based d mapping (SDM). Read More

View Article and Full-Text PDF

Exposure to sevoflurane results in changes of transcription factor occupancy in sperm and inheritance of autism.

Biol Reprod 2021 May 12. Epub 2021 May 12.

Department of Human Genetics, Emory University School of Medicine, 615 Michael St, Atlanta, GA 30322, USA.

One in 54 children in the U.S. is diagnosed with Autism Spectrum Disorder (ASD). Read More

View Article and Full-Text PDF

[Current state of and challenges in in vivo central nervous system evaluation in safety pharmacology studies-Topic overview and initiatives of the Japanese Safety Pharmacology Society].

Yoshiki Deguchi

Nihon Yakurigaku Zasshi 2021 ;156(3):171-177

Shin Nippon Biomedical Laboratories, Ltd.

The modified Irwin's method and functional observational battery (FOB)used in non-clinical studies for predicting side effects that may appear in the central nervous system (CNS)in clinical studies consist of mainly macroscopic observation and largely depend on the observer's ability. Therefore, appropriate training for the observer and consistency of findings are extremely important, making it necessary for methods and judgment criteria to be standardized. In addition, because of concern for animal welfare as well as an increase in biopharmaceutical and anticancer drug development, there is increasing opportunity to incorporate safety pharmacological evaluation into general toxicity studies. Read More

View Article and Full-Text PDF

Effects of Early Vocal Contact in the Neonatal Intensive Care Unit: Study Protocol for a Multi-Centre, Randomised Clinical Trial.

Int J Environ Res Public Health 2021 04 8;18(8). Epub 2021 Apr 8.

Neonatal Intensive Care Unit, Department of Medical and Surgical Science of the Mother, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo 41, 41124 Modena, Italy.

Preterm infants are at risk for developing altered trajectories of cognitive, social, and linguistic competences compared to a term population. This is mainly due to medical and environmental factors, as they are exposed to an atypical auditory environment and simultaneously, long periods of early separation from their parents. The short-term effects of early vocal contact (EVC) on an infant's early stability have been investigated. Read More

View Article and Full-Text PDF

NLRP3 inflammasome inhibition by histone acetylation ameliorates sevoflurane-induced cognitive impairment in aged mice by activating the autophagy pathway.

Brain Res Bull 2021 Jul 22;172:79-88. Epub 2021 Apr 22.

Department of Anaesthesiology, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, 430071, China. Electronic address:

Age-related cognitive impairment is associated with diminished autophagy and progressively increased neuroinflammation. Histone acetylation has been shown to be a key process in sevoflurane-induced neurobehavioral abnormalities. Here, we investigated whether histone acetylation regulates the interaction between autophagy and the NLRP3 inflammasome in models of sevoflurane-induced cognitive impairment and explored the underlying molecular mechanisms. Read More

View Article and Full-Text PDF

The effects of maternal SSRI exposure on the serotonin system, prefrontal protein expression and behavioral development in male and female offspring rats.

Neurochem Int 2021 06 6;146:105041. Epub 2021 Apr 6.

School of Rehabilitation, Kunming Medical University, Kunming, China. Electronic address:

Fluoxetine (FLX), a commonly used selective serotonin reuptake inhibitor, is often used to treat depression during pregnancy. However, prenatal exposure to FLX has been associated with a series of neuropsychiatric illnesses. The use of a rodent model can provide a clear indication as to whether prenatal exposure to SSRIs, independent of maternal psychiatric disorders or genetic syndromes, can cause long-term behavioral abnormalities in offspring. Read More

View Article and Full-Text PDF

Genetic Approaches Using Zebrafish to Study the Microbiota-Gut-Brain Axis in Neurological Disorders.

Cells 2021 Mar 5;10(3). Epub 2021 Mar 5.

Disease Target Structure Research Center, KRIBB, 125 Gwahak-ro, Yuseong-gu, Daejeon 34141, Korea.

The microbiota-gut-brain axis (MGBA) is a bidirectional signaling pathway mediating the interaction of the microbiota, the intestine, and the central nervous system. While the MGBA plays a pivotal role in normal development and physiology of the nervous and gastrointestinal system of the host, its dysfunction has been strongly implicated in neurological disorders, where intestinal dysbiosis and derived metabolites cause barrier permeability defects and elicit local inflammation of the gastrointestinal tract, concomitant with increased pro-inflammatory cytokines, mobilization and infiltration of immune cells into the brain, and the dysregulated activation of the vagus nerve, culminating in neuroinflammation and neuronal dysfunction of the brain and behavioral abnormalities. In this topical review, we summarize recent findings in human and animal models regarding the roles of the MGBA in physiological and neuropathological conditions, and discuss the molecular, genetic, and neurobehavioral characteristics of zebrafish as an animal model to study the MGBA. Read More

View Article and Full-Text PDF

Comprehensive characterization of motor and coordination functions in three adolescent wild-type mouse strains.

Sci Rep 2021 Mar 22;11(1):6497. Epub 2021 Mar 22.

Interdisciplinary Neurobehavioral Core, Heidelberg University, Heidelberg, Germany.

Neuropsychiatric disorders are often associated with motor and coordination abnormalities that have important implications on the etiology, pathophysiology, and management of these disorders. Although the onset of many neuropsychiatric disorders including autism spectrum disorder, schizophrenia, and attention-deficit hyperactivity disorder emerges mainly during infancy and adolescence, most of the behavioral studies in mice modeling neuropsychiatric phenotypes are performed in adult animals, possibly missing valuable phenotypic information related to the effect of synaptic maturation during development. Here, we examined which behavioral tests assessing both motor and coordination functions can be performed in mice at two different adolescent stages. Read More

View Article and Full-Text PDF

Abnormal theta oscillation aggravated by chronic stress in the CA1 may mediate the deterioration of fear memory impairment induced by lipopolysaccharide.

Brain Res Bull 2021 Jun 19;171:172-182. Epub 2021 Mar 19.

Department of Anesthesiology, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, China. Electronic address:

Both environmental stress and immune challenge can induce abnormal neurobehavior. However, the impact of chronic stress on immune challenge-related neurobehavioral abnormalities is still controversial. Hence, we aimed to investigate the effects of chronic stress on immune challenge-related neurobehavioral abnormalities and explore the possible underlying mechanisms. Read More

View Article and Full-Text PDF

Neuroimaging of Supraventricular Frontal White Matter in Children with Familial Attention-Deficit Hyperactivity Disorder and Attention-Deficit Hyperactivity Disorder Due to Prenatal Alcohol Exposure.

Neurotox Res 2021 Aug 22;39(4):1054-1075. Epub 2021 Mar 22.

Division of Child & Adolescent Psychiatry, Jane & Terry Semel Instutute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.

Attention-deficit hyperactivity disorder (ADHD) is common in patients with (ADHD+PAE) and without (ADHD-PAE) prenatal alcohol exposure (PAE). Many patients diagnosed with idiopathic ADHD actually have covert PAE, a treatment-relevant distinction. To improve differential diagnosis, we sought to identify brain differences between ADHD+PAE and ADHD-PAE using neurobehavioral, magnetic resonance spectroscopy, and diffusion tensor imaging metrics that had shown promise in past research. Read More

View Article and Full-Text PDF

Detection of prenatal alcohol exposure using machine learning classification of resting-state functional network connectivity data.

Alcohol 2021 06 11;93:25-34. Epub 2021 Mar 11.

Department of Neurosciences, University of New Mexico School of Medicine, 1 University of New Mexico, Albuquerque, NM 87131, United States; Department of Psychology, University of New Mexico, 1 University of New Mexico, Albuquerque, NM 87131, United States.

Fetal Alcohol Spectrum Disorder (FASD), a wide range of physical and neurobehavioral abnormalities associated with prenatal alcohol exposure (PAE), is recognized as a significant public health concern. Advancements in the diagnosis of FASD have been hindered by a lack of consensus in diagnostic criteria and limited use of objective biomarkers. Previous research from our group utilized resting-state functional magnetic resonance imaging (fMRI) to measure functional network connectivity (FNC), which revealed several sex- and region-dependent alterations in FNC as a result of moderate PAE relative to controls. Read More

View Article and Full-Text PDF

Neuropsychological Assessment Should Always be Considered in Myotonic Dystrophy Type 2.

Cogn Behav Neurol 2021 03 3;34(1):1-10. Epub 2021 Mar 3.

First Department of Neurology, Medical School, Aeginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Myotonic dystrophies (DMs) are hereditary, multisystem, slowly progressive myopathies. One of the systems they affect is the CNS. In contrast to the well-established cognitive profile of myotonic dystrophy type 1 (DM1), only a few studies have investigated cognitive dysfunction in individuals with myotonic dystrophy type 2 (DM2), and their findings have been inconsistent. Read More

View Article and Full-Text PDF

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.

Hum Brain Mapp 2021 Feb 21. Epub 2021 Feb 21.

Center for Neuroimaging, Genetics and Genomics, School of Psychology, NUI Galway, Galway, Ireland.

The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. Read More

View Article and Full-Text PDF
February 2021