scholarly journals Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies

2020 ◽  
Vol 21 (3) ◽  
pp. 1156 ◽  
Author(s):  
Karolina Pierzynowska ◽  
Lidia Gaffke ◽  
Magdalena Podlacha ◽  
Grzegorz Węgrzyn
Keyword(s):  
Behavioral Disorders ◽  
Behavioral Problems ◽  
Metabolic Diseases ◽  
Behavioral Changes ◽  
Behavioral Disorder ◽  
Rna Seq ◽  
Expression Of Genes ◽  
Mps Iva ◽  
Molecular Base ◽  
Mps I

Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases caused by mutations leading to defective degradation of glycosaminoglycans (GAGs) and their accumulation in cells. Among 11 known types and subtypes of MPS, neuronopathy occurs in seven (MPS I, II, IIIA, IIIB, IIIC, IIID, VII). Brain dysfunctions, occurring in these seven types/subtypes include various behavioral disorders. Intriguingly, behavioral symptoms are significantly different between patients suffering from various MPS types. Molecular base of such differences remains unknown. Here, we asked if expression of genes considered as connected to behavior (based on Gene Ontology, GO terms) is changed in MPS. Using cell lines of all MPS types, we have performed transcriptomic (RNA-seq) studies and assessed expression of genes involved in behavior. We found significant differences between MPS types in this regard, with the most severe changes in MPS IIIA (the type considered as the behaviorally most severely affected), while the lowest changes in MPS IVA and MPS VI (types in which little or no behavioral disorders are known). Intriguingly, relatively severe changes were found also in MPS IVB (in which, despite no behavioral disorder noted, the same gene is mutated as in GM1 gangliosidosis, a severe neurodegenerative disease) and MPS IX (in which only a few patients were described to date, thus, behavioral problems are not well recognized). More detailed analyses of expression of certain genes allowed us to propose an association of specific changes in the levels of transcripts in specific MPS types to certain behavioral disorders observed in patients. Therefore, this work provides a principle for further studies on the molecular mechanism of behavioral changes occurring in MPS patients.

scholarly journals Detection of childhood developmental disorders, behavioral disorders, and depression in a post-earthquake setting

2011 ◽  
Vol 51 (3) ◽  
pp. 133
Author(s):  
Yogi Prawira ◽  
Intan Tumbelaka ◽  
Ali Alhadar ◽  
Erwin Hendrata ◽  
Renno Hidayat ◽  
...  
Keyword(s):  
Behavioral Disorders ◽  
Behavioral Problems ◽  
Developmental Disorders ◽  
Developmental Disorder ◽  
Traumatic Event ◽  
Externalizing Disorders ◽  
Emotional And Behavioral Problems ◽  
Behavioral Disorder ◽  
Post Traumatic Stress ◽  
Internalizing Disorder

Background Disasters, including earthquakes, may strike abruptly without warning. Children may develop psychological damage resulting from experiencing an overwhelmingly traumatic event. They may feel very frightened during a disaster and demonstrate emotional and behavioral problems afterwards.Objective To evaluate the presence of developmental disorders, behavioral disorders, and depression in children after the earthquake at Padang and Pariaman on September 30th, 2009.Methods This was a cross􀁘sectional study using the developmental pre screening questionnaire (KPSP), Pediatric Symptoms Checklist-17 (PSC-17), and Child Depression Inventory (CDI) in children after the Padang and Pariaman earthquake (September 30th, 2009), in Sungai Limau and Sungai Geringging District, Pariaman Region, West Sumatera. Our study was conducted October 15th to November 28th, 2009.Results There were 172 children screened using the KPSP. Forty-two (25%) children scored 7􀁘8 (reason for concern), 18 (10%) children scored <7 (suspected to have a developmental disorder), and the remainder scored as developmentally appropriate. Behavioral disorder screening was perfonned in 339 children using the PSC􀁘 17. Internalizing disorder alone was suspected in 58 (17%) children, externalizing disorder alone in 26 (7.7%), and attention􀁘defidt disorder alone in 5 (1.5%). Eight (2.4%) children were suspected to have both internalizing and attention􀁘defidt disorders, 4 (1.2%) children externalizing and attention􀁘defidt disorders, 22 (6.5%) children internalizing and externalizing disorders, and 15 (4.4%) children all three disorders. From 4 9 children who underwent depression screening using CDI, 15(30.6%) children were suspected to have depression. Conclusion After the Padang and Pariaman earthquake, we found 10% of subjects screened were suspected of having a developmental disorder. The most connnonbehavioral disorder found was internalizing disorder. Possible depression was found in 30.6% of children surveyed. Traumatized children are at risk for developing post traumatic stress disorder. 2011;5' :133-7]. 

scholarly journals The Association between Behavioral Problems with SelfEsteem and Self-Concept in Pediatric Patients with Thalassemia

2021 ◽  
Author(s):  
Seyed Mohamad Kazem Nourbakhsh ◽  
Minoo Atamanesh ◽  
Mohammad Effatpanah ◽  
Mona Salehi ◽  
Morteza Heidari
Keyword(s):  
Correlation Coefficient ◽  
Behavioral Disorders ◽  
Behavioral Problems ◽  
Thalassemia Major ◽  
Self Esteem ◽  
Cross Sectional Study ◽  
Behavioral Disorder ◽  
Self Concept ◽  
P Value ◽  
Cross Sectional

Objective: High prevalence of behavioral and psychological disorders in children with thalassemia can be associated with a decrease in the self-esteem of patients and can completely alter the person's self-concept. The aim of this study was to determine the prevalence of behavioral problems and its relationship with self-esteem and self-concept in patients with thalassemia major aged 6 to 18 years. Method: In a cross-sectional study, 30 patients with thalassemia major at the age of 6 to 18 years were enrolled. behavioral problems, self-esteem, and self-concept were evaluated by the child's behavioral check list at the ages of 6 to 18 years (CBCL 6-18), the Coopersmith's Self-Esteem Inventory, and the Piers-Harris Children's Self-Concept Scale. Results: A total of 10.0% of patients had behavioral disorders, 3 (10.0%) desirable self-esteem, 15 (50.0%) moderate self-esteem, and 12 (40.0%) poor self-esteem. There was a strong but adverse correlation between behavioral disorder score and both self-esteem score (correlation coefficient equal to -0.886, p value = 0.001) and self-concept score (correlation coefficient equal to -0.498, p value = 0.001), and thus those patients with behavioral disorder had less appropriate self-esteem and self-concept. Conclusion: The incidence of behavioral disorders is associated with decreased self-esteem and poor self-concept in these patients. Therefore, improvement in behavioral disorders can be expected by improving self-esteem and selfconcept in such patients.

scholarly journals Evaluating Behavioral Changes Prevalence Among Primary and Preschool Children Due to COVID-19 Epidemic

2022 ◽  
Vol 18 (4) ◽  
Author(s):  
Ali Dashtgard ◽  
Hossein Dehghani ◽  
Seyed Mostafa Mohsenizadeh ◽  
Hadi Zare Marzouni ◽  
Mohammad Alinezhad Moqaddam
Keyword(s):  
Behavioral Disorders ◽  
Underlying Disease ◽  
Cross Sectional Study ◽  
Behavioral Changes ◽  
Behavioral Disorder ◽  
Cross Sectional ◽  
Demographic Indicators ◽  
Demographic Questionnaire ◽  
Anxiety Depression ◽  
New Situation

Background: The COVID-19 pandemic and its subsequent changes in the community lifestyle can be associated with problems and complications. It seems very important to identify the problems caused by the COVID-19 pandemic accurately. Objectives: This study aimed to investigate behavioral changes in children due to the COVID-19 pandemic in South Khorasan in 2021. Methods: In this cross-sectional study, 312 children were studied. Inclusion criteria included all children under 12 years of age without apparent mental disorders and chronic diseases affecting behavioral changes. Exclusion criteria were parental separation, experiencing natural disasters in the last two years, losing a first-degree family member in the last two years, and any underlying disease in the child and first-degree family members. The questionnaires included a demographic questionnaire and the Ruther Children's Behavior Questionnaire, completed by parents online due to the COVID-19 epidemic and the new situation. Results: The results showed that the behavioral disorder prevalence was 37.2% (n = 116). The mean scores were 3.10 ± 2.23 for aggression-hyperactivity, 3.11 ± 3.08 for anxiety-depression, 2.65 ± 1.79 for social maladaptation, 2.34 ± 1.83 for antisocial behavior, and 1.59 ± 1.29 for attention deficit. There was no significant relationship between demographic indicators and behavioral disorders (P > 0.05). Conclusions: The results indicated an increase in the prevalence of behavioral disorders in children during the COVID-19 pandemic. Therefore, it seems necessary to identify influencing factors and find appropriate solutions to prevent such disorders.

scholarly journals Indicators of Social Competence and Social Participation Among US Children With Tourette Syndrome

2020 ◽  
Vol 35 (9) ◽  
pp. 612-620 ◽  
Author(s):  
Rebecca H. Bitsko ◽  
Melissa L. Danielson ◽  
Rebecca T. Leeb ◽  
Brita Bergland ◽  
Morgan J. Fuoco ◽  
...  
Keyword(s):  
Social Skills ◽  
Social Competence ◽  
Tourette Syndrome ◽  
Behavioral Disorders ◽  
Behavioral Problems ◽  
Behavioral Disorder ◽  
P Value ◽  
Social Activities ◽  
Chi Square ◽  
Emotional Or Behavioral Disorders

Children with Tourette syndrome often have behavioral and social difficulties, which may be associated with co-occurring mental, emotional, or behavioral disorders. This study investigated social competence, including behavioral problems and social skills, and social activities between children with and without Tourette syndrome using a nationally representative sample. In the 2007 National Survey of Children’s Health, parents reported on health care provider diagnosis of Tourette syndrome, co-occurring mental, emotional, or behavioral disorders, and indicators of social competence. Children aged 6-17 years with and without Tourette syndrome were compared. Most (78.7%) children with Tourette syndrome had a co-occurring mental, emotional, or behavioral disorder. Children with Tourette syndrome had significantly lower social competence, exhibited by higher levels of behavior problems (mean score 11.6 for Tourette syndrome and 9.0 for no Tourette syndrome) and lower levels of social skills (mean 15.3) than children without a Tourette syndrome diagnosis (mean 17.1); however, these associations were no longer significant after controlling for co-occurring mental, emotional, or behavioral disorders. Moderate to severe Tourette syndrome was associated with the highest ratings of behavioral problems and the lowest ratings of social skills. Children with and without Tourette syndrome were equally likely to participate in social activities; the difference for children with moderate to severe Tourette syndrome being less likely to participate in activities compared to children with mild Tourette syndrome had a chi-square test P value of .05. In conclusion, Tourette syndrome was associated with lower social competence, particularly for children with moderate to severe Tourette syndrome. Monitoring social functioning and co-occurring conditions among children with Tourette syndrome, and referral for evidence-based interventions when needed, may benefit overall health and functioning.

Commentary

2008 ◽  
Vol 13 (6) ◽  
pp. 8-8
Author(s):  
Richard T. Katz
Keyword(s):  
Mental Illness ◽  
Behavioral Disorders ◽  
Rating Scale ◽  
Behavioral Disorder ◽  
Sixth Edition ◽  
Diagnostic And Statistical Manual ◽  
Brief Psychiatric Rating Scale ◽  
Psychiatric Rating ◽  
Psychiatric Rating Scale ◽  
Mental And Behavioral Disorders

Abstract The author, who is the editor of the Mental and Behavioral Disorders chapter of the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), Sixth Edition, comments on the previous article, Assessing Mental and Behavioral Disorder Impairment: Overview of Sixth Edition Approaches in this issue of The Guides Newsletter. The new Mental and Behavioral Disorders (M&BD) chapter, like others in the AMA Guides, is a consensus opinion of many authors and thus reflects diverse points of view. Psychiatrists and psychologists continue to struggle with diagnostic taxonomies within the Diagnostic and Statistical Manual of Mental Disorders, but anxiety, depression, and psychosis are three unequivocal areas of mental illness for which the sixth edition of the AMA Guides provides M&BD impairment rating. Two particular challenges faced the authors of the chapter: how could M&BD disorders be rated (and yet avoid an onslaught of attorney requests for an M&BD rating in conjunction with every physical impairment), and what should be the maximal impairment rating for a mental illness. The sixth edition uses three scales—the Psychiatric Impairment Rating Scale, the Global Assessment of Function, and the Brief Psychiatric Rating Scale—after careful review of a wide variety of indices. The AMA Guides remains a work in progress, but the authors of the M&BD chapter have taken an important step toward providing a reasonable method for estimating impairment.

Assessing Mental and Behavioral Disorder Impairment: Overview of Sixth Edition Approaches

2008 ◽  
Vol 13 (6) ◽  
pp. 1-7
Author(s):  
Norma Leclair ◽  
Steve Leclair ◽  
Robert Barth
Keyword(s):  
Mental Disorders ◽  
Behavioral Disorders ◽  
Psychotic Disorders ◽  
Behavioral Disorder ◽  
Behavioral Impairment ◽  
Central Nervous System Damage ◽  
Brain Functioning ◽  
Sixth Edition ◽  
Diagnostic And Statistical Manual ◽  
Mental And Behavioral Disorders

Abstract Chapter 14, Mental and Behavioral Disorders, in the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), Sixth Edition, defines a process for assessing permanent impairment, including providing numeric ratings, for persons with specific mental and behavioral disorders. These mental disorders are limited to mood disorders, anxiety disorders, and psychotic disorders, and this chapter focuses on the evaluation of brain functioning and its effects on behavior in the absence of evident traumatic or disease-related objective central nervous system damage. This article poses and answers questions about the sixth edition. For example, this is the first since the second edition (1984) that provides a numeric impairment rating, and this edition establishes a standard, uniform template to translate human trauma or disease into a percentage of whole person impairment. Persons who conduct independent mental and behavioral evaluation using this chapter should be trained in psychiatry or psychology; other users should be experienced in psychiatric or psychological evaluations and should have expertise in the diagnosis and treatment of mental and behavioral disorders. The critical first step in determining a mental or behavioral impairment rating is to document the existence of a definitive diagnosis based on the current edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders. The article also enumerates the psychiatric disorders that are considered ratable in the sixth edition, addresses use of the sixth edition during independent medical evaluations, and answers additional questions.

scholarly journals Identification of Potential Key lncRNAs in the Context of Mouse Myeloid Differentiation by Systematic Transcriptomics Analysis

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 630
Author(s):  
Yongqing Lan ◽  
Meng Li ◽  
Shuangli Mi
Keyword(s):  
Transcription Factor ◽  
Cell Model ◽  
Myeloid Differentiation ◽  
Rna Seq ◽  
Hematopoietic Differentiation ◽  
Granulocytic Differentiation ◽  
Expression Of Genes ◽  
Non Coding Rnas

Hematopoietic differentiation is a well-orchestrated process by many regulators such as transcription factor and long non-coding RNAs (lncRNAs). However, due to the large number of lncRNAs and the difficulty in determining their roles, the study of lncRNAs is a considerable challenge in hematopoietic differentiation. Here, through gene co-expression network analysis over RNA-seq data generated from representative types of mouse myeloid cells, we obtained a catalog of potential key lncRNAs in the context of mouse myeloid differentiation. Then, employing a widely used in vitro cell model, we screened a novel lncRNA, named Gdal1 (Granulocytic differentiation associated lncRNA 1), from this list and demonstrated that Gdal1 was required for granulocytic differentiation. Furthermore, knockdown of Cebpe, a principal transcription factor of granulocytic differentiation regulation, led to down-regulation of Gdal1, but not vice versa. In addition, expression of genes involved in myeloid differentiation and its regulation, such as Cebpa, were influenced in Gdal1 knockdown cells with differentiation blockage. We thus systematically identified myeloid differentiation associated lncRNAs and substantiated the identification by investigation of one of these lncRNAs on cellular phenotype and gene regulation levels. This study promotes our understanding of the regulation of myeloid differentiation and the characterization of roles of lncRNAs in hematopoietic system.

Unusual increase of Scd1 and Elovl6 expression in rat inguinal adipose tissue

2012 ◽  
Vol 7 (2) ◽  
pp. 192-200
Author(s):  
Jacek Turyn ◽  
Adriana Mika ◽  
Piotr Stepnowski ◽  
Julian Swierczynski
Keyword(s):  
Adipose Tissue ◽  
Food Restriction ◽  
Metabolic Diseases ◽  
Quantitative Polymerase Chain Reaction ◽  
Mrna Levels ◽  
Gene Expressions ◽  
Tissue Mass ◽  
Expression Of Genes ◽  
Fat Deposits ◽  
Rat Adipose Tissue

AbstractIt is generally accepted that the location of body fat deposits may play an important role in the risk of developing some endocrine and metabolic diseases. We have studied the effect of food restriction and food restriction/refeeding, often practiced by individuals trying to lose body weight, on the expression of genes which are associated with obesity and certain metabolic disorders in inguinal, epididymal, and perirenal rat white adipose tissues. Gene expression was analyzed by real time semi-quantitative polymerase chain reaction and by Western blot. We found that prolonged food restriction caused a significant decrease of body and adipose tissue mass as well as the increase of Scd1 and Elovl6 gene expressions in all main rat adipose tissue deposits. Food restriction/refeeding caused increases of: a) Scd1 and Elovl6 mRNA levels in adipose tissue, b) Scd1 protein level and c) desaturation index in adipose tissue. The increased expression of both genes was unusually high in inguinal adipose tissue. The results suggest that the increase of Scd1 and Elovl6 gene expressions in white adipose tissue by prolonged food restriction and prolonged food restriction/refeeding may contribute to accelerated fat recovery that often occurs in individuals after food restriction/refeeding.

scholarly journals Associations among child abuse, mental health, and epigenetic modifications in the proopiomelanocortin gene (POMC): A study with children in Tanzania

2016 ◽  
Vol 28 (4pt2) ◽  
pp. 1401-1412 ◽  
Author(s):  
Tobias Hecker ◽  
Karl M. Radtke ◽  
Katharin Hermenau ◽  
Andreas Papassotiropoulos ◽  
Thomas Elbert
Keyword(s):  
Mental Health ◽  
Child Abuse ◽  
Behavioral Problems ◽  
Mental Health Problems ◽  
Epigenetic Modifications ◽  
Behavioral Changes ◽  
Emotional And Behavioral Problems ◽  
High Exposure ◽  
Low Exposure ◽  
Altered Gene

AbstractChild abuse is associated with a number of emotional and behavioral problems. Nevertheless, it has been argued that these adverse consequences may not hold for societies in which many of the specific acts of abuse are culturally normed. Epigenetic modifications in the genes of the hypothalamus–pituitary–adrenal axis may provide a potential mechanism translating abuse into altered gene expression, which subsequently results in behavioral changes. Our investigation took place in Tanzania, a society in which many forms of abuse are commonly employed as disciplinary methods. We included 35 children with high exposure and compared them to 25 children with low exposure. Extreme group comparisons revealed that children with high exposure reported more mental health problems. Child abuse was associated with differential methylation in the proopiomelanocortin gene (POMC), measured both in saliva and in blood. Hierarchical clustering based on the methylation of the POMC gene found two distinct clusters. These corresponded with children's self-reported abuse, with two-thirds of the children allocated into their respective group. Our results emphasize the consequences of child abuse based on both molecular and behavioral grounds, providing further evidence that acts of abuse affect children, even when culturally acceptable. Furthermore, on a molecular level, our findings strengthen the credibility of children's self-reports.

Abstract MP259: The Role Of Sertad4 In Pathological Cardiac Remodeling

2021 ◽  
Vol 129 (Suppl_1) ◽  
Author(s):  
Matthew Stratton ◽  
Ashley Francois ◽  
Oscar Bermeo-Blanco ◽  
Alessandro Canella ◽  
Lynn Marcho ◽  
...  
Keyword(s):  
Cardiac Remodeling ◽  
Cardiac Fibrosis ◽  
Systolic Function ◽  
Myocardial Infarct ◽  
Proteasome Inhibition ◽  
Rna Seq ◽  
Expression Of Genes ◽  
M Phase ◽  
Tgf Β1

Over 6 million Americans suffer from heart failure (HF) while the 5-year mortality rate following first admission for HF is over 40%. Cardiac fibrosis is a clinical hallmark of HF, regardless of the initiating pathology and is thought to contribute to disease progression. Using an epigenomics discovery approach, we uncovered a nuclear protein, Sertad4, as a potential anti-fibrotic target. Our data indicate that Sertad4 is a positive regulator of fibroblast activation. Specifically, cultured cardiac fibroblast experiments demonstrate that Sertad4 targeting with shRNAs blocks fibroblast proliferation and causes cells to arrest in the G2/M phase of the cell cycle. Also, shRNA targeting of Sertad4 dramatically blocked activation of myofibroblast differentiation genes (αSMA/POSTN/COL1A1). Mechanistically, these effects appear to be mediated by Sertad4 regulation of SMAD2 protein stability in the presence of TGF-β1 stimulation as demonstrated by proteasome inhibition experiments. RNA-seq analysis indicate that Sertad4 also regulates the expression of genes involved in ubiquitination and proteasome degradation. Next, we sought to determine the effect of global Sertad4 knockout on post-myocardial infarct (MI) remodeling and cardiac function in mice. After 4 weeks of permanent LAD ligation, echocardiography was performed to measure systolic function. Relative to wild-type (WT) controls, the Sertad4 KO mice showed preserved systolic function as evident by improved ejection fraction (WT 14.4 +/- 3.6 vs. KO 33.9+/-5.9, p=0.035) and fractional shortening (WT 6.5 +/- 1.7 vs. KO 16.4 +/- 3.4, p=0.046). β-gal staining in the Sertad4/LacZ reporter mouse subjected to MI showed robust Sertad4/LacZ expression in the ischemic scar and boarder-zone with almost no expression in control hearts. This data supports the notion that Sertad4 has a key role in cardiac remodeling in response to ischemic injury.

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