scholarly journals Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Hui Guo ◽  
◽  
Elisa Bettella ◽  
Paul C. Marcogliese ◽  
Rongjuan Zhao ◽  
...  
Keyword(s):  
Psychiatric Disorders ◽  
Glial Cells ◽  
Behavioral Problems ◽  
Motor Development ◽  
Statistical Significance ◽  
Behavioral Outcomes ◽  
Protein Product ◽  
Facial Dysmorphism ◽  
Variable Degree ◽  
Restricted Pattern

Abstract Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2—whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.

scholarly journals Correlation of adverse childhood experiences with psychiatric disorders and aggressiveness in adulthood

2010 ◽  
Vol 67 (8) ◽  
pp. 653-658 ◽  
Author(s):  
Ljiljana Samardzic ◽  
Gordana Nikolic ◽  
Grozdanko Grbesa ◽  
Maja Simonovic ◽  
Tatjana Milenkovic
Keyword(s):  
Psychiatric Disorders ◽  
Adverse Childhood Experiences ◽  
Psychotic Disorders ◽  
Psychiatric Patients ◽  
Statistical Significance ◽  
Healthy Individuals ◽  
Childhood Experiences ◽  
Positive Correlation ◽  
Adverse Childhood ◽  
Significant Difference

Background/Aim. Consequences of individual adverse childhood experiences for adult mental health have been precisely studied during past decades. The focus of past research was mainly on childhood maltreatment and neglect. The aim of this paper was to determine association between multiple adverse childhood experiences and psychiatric disorders, as well as their correlation to the degree and type of aggressiveness in adult psychiatric patients. Methods. One hundred and thirteen psychiatric outpatients were divided into three diagnostic groups: psychotics, non-psychotics and alcoholics and compared with fourty healthy individuals. Adverse childhood experiences data were gathered retrospectively, using the Adverse childhood experiences questionnaire and explanatory interview. Aggressiveness was assessed using Buss-Perry Aggression Questionnaire. The Student's t test, ANOVA and correlational analysis were used for evaluation of statistical significance of differences among the groups. A value p < 0.05 was considered statistically significant. Results. Our results showed that the mean number of adverse childhood experiences in each group of psychiatric patients, as well as in the whole group of patients, was statistically significantly higher than in the group of healthy individuals (p < 0.001); there was a statistically significant difference in score of physical aggressiveness between the patients exposed to adverse childhood experiences and those who were not exposed to them (p < 0.05); scores of physical aggressiveness were in positive correlation with the number of adverse childhood experiences (p < 0.05). The highest mean score of adverse childhood experiences was evidenced in the group of patients with psychotic disorders. Conclusion. Multiple adverse childhood experiences are significantly associated with psychotic disorders, nonpsychotic disorders and alcohol dependence in adulthood and their presence is important morbidity risk factor for psychiatric disorders. They are in positive correlation with physical aggressiveness of the patients from these diagnostic groups.

Glial Cells and Pro-inflammatory Cytokines as Shared Neurobiological Bases for Chronic Pain and Psychiatric Disorders

2020 ◽  
pp. 27-49
Author(s):  
Judith A. Strong ◽  
Sang Won Jeon ◽  
Jun-Ming Zhang ◽  
Yong-Ku Kim
Keyword(s):  
Chronic Pain ◽  
Nervous System ◽  
Psychiatric Disorders ◽  
Inflammatory Cytokines ◽  
Glial Cells ◽  
Neuronal Excitability ◽  
Pro Inflammatory Cytokines

This chapter reviews the roles of cytokines and glial cells in chronic pain and in psychiatric disorders, especially depression. One important role of cytokines is in communicating between activated glia and neurons, at all levels of the nervous system. This process of neuroinflammation plays important roles in pain and depression. Cytokines may also directly regulate neuronal excitability. Many cytokines have been implicated in both pain and psychiatric disorders, including interleukin-1β‎ (IL-1β‎), tumor necrosis factor-α‎, and IL-6. More generally, an imbalance between type 1, pro-inflammatory cytokines and type 2, anti-inflammatory cytokines has been implicated in both pain and psychiatric disorders. Activation of the sympathetic nervous system can contribute to both pain and psychiatric disorders, in part through its actions on inflammation and the cytokine profile.

scholarly journals Molecular Mechanisms of Glial Cells Related Signaling Pathways Involved in the Neuroinflammatory Response of Depression

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Junhui Wang ◽  
Jie Qin ◽  
Peng Wang ◽  
Yu Sun ◽  
Qi Zhang
Keyword(s):  
Psychiatric Disorders ◽  
Signaling Pathways ◽  
Glial Cells ◽  
Therapeutic Target ◽  
Molecular Mechanisms ◽  
Pathological Change ◽  
Basic Knowledge ◽  
Pathological Features ◽  
Potential Therapeutic Target ◽  
Neuroinflammatory Response

Dysfunction of the glial cells, such as astrocytes and microglia, is one of the pathological features in many psychiatric disorders, including depression, which emphasizes that glial cells driving neuroinflammation is not only an important pathological change in depression but also a potential therapeutic target. In this review, we summarized a recent update about several signaling pathways in which glial cells may play their roles in depression through neuroinflammatory reactions. We focused on the basic knowledge of these signaling pathways by elaborating each of them. This review may provide an updated image about the recent advances on these signaling pathways that are essential parts of neuroinflammation involved in depression.

Detailed assessment and risk factor analysis of corticosteroid-induced psychiatric disorders in pediatric, adolescent, and young adult patients undergoing induction or consolidation therapy for hematologic malignancy

2019 ◽  
Vol 26 (5) ◽  
pp. 1041-1051
Author(s):  
Yukiko Staub ◽  
Yukio Suga ◽  
Yasuhiro Ikawa ◽  
Kiyotaka Tsubouchi ◽  
Mikie Hashimoto ◽  
...  
Keyword(s):  
Risk Factors ◽  
Young Adult ◽  
Psychiatric Disorders ◽  
Treatment Regimen ◽  
Behavioral Problems ◽  
Developmental Process ◽  
Hematologic Malignancy ◽  
Adult Patients ◽  
Adolescent And Young Adult ◽  
Emotional And Behavioral Problems

Background Corticosteroid-induced psychiatric disorders (CIPDs) represent an adverse effect that can cause severe emotional and behavioral problems. The aim of the present study was to assess the incidence and risk factors of CIPDs. Methods A retrospective analysis of 92 pediatric and young adult patients with hematologic malignancies was conducted. Results The incidence of CIPDs in patients receiving a treatment regimen with prednisolone or dexamethasone was 64.9% and 77.5%, respectively, both of which were significantly higher than that in patients not receiving corticosteroids. Independent risk factors and adjusted odds ratios (95% confidence intervals) related to severe CIPD were 2.15 (1.11–4.18) for dexamethasone (using prednisolone as the reference) and 0.81 (0.75–0.87) for age, suggesting that the odds increase with decreasing age. Frequently observed symptoms, respectively in terms of behavioral and emotional problems were defiance, crying, psychomotor excitement, dysphoria, irritability, and depression. To our knowledge, this is the first report to mention the risk factors and characteristics for clinical symptoms of CIPDs during the developmental process. Conclusions Healthcare professionals should predict and prepare for psychiatric adverse events prior to chemotherapy in the clinical settings, especially in patients in younger age and receiving a treatment regimen with dexamethasone.

scholarly journals Prognostic Factors for Behavioral Problems and Psychiatric Disorders in Children Born Very Preterm or Very Low Birth Weight

2016 ◽  
Vol 37 (1) ◽  
pp. 88-102 ◽  
Author(s):  
Louise Linsell ◽  
Reem Malouf ◽  
Samantha Johnson ◽  
Joan Morris ◽  
Jennifer J. Kurinczuk ◽  
...  
Keyword(s):  
Prognostic Factors ◽  
Birth Weight ◽  
Low Birth Weight ◽  
Psychiatric Disorders ◽  
Behavioral Problems ◽  
Very Low Birth Weight ◽  
Very Preterm

scholarly journals Rehabilitation and Functional Neuroimaging Dose-Response Trajectories for Clinical Trials

2005 ◽  
Vol 19 (4) ◽  
pp. 276-282 ◽  
Author(s):  
Bruce H. Dobkin
Keyword(s):  
Clinical Trials ◽  
Functional Neuroimaging ◽  
Statistical Significance ◽  
Behavioral Outcomes ◽  
Experimental Treatment ◽  
Clinical Effectiveness ◽  
Additional Treatment ◽  
Dynamic State ◽  
Experimental Therapy ◽  
Behavioral Assessments

Background. In clinical trials, behavioral outcomes and physiological measures of activity-dependent plasticity that evolve with task-oriented therapies may fail to reach statistical significance. When significant, clinical effectiveness may not be robust enough to alter professional practices. Objective. Provide the conceptual basis for a research design to optimize the effect of an experimental treatment. Methods. Literature review. Results. Research designs usually do not take into consideration the dynamic state of each subject’s potential responsiveness to an intervention. Providing a rational, rather than convenient, intensity and duration of therapy may remedy this potential confounder for clinical trials. To determine whether a most effective dose of a therapy exists, investigators could assess subjects before the intervention, administer interim measures at planned intervals, and continue the intervention until the primary behavioral outcomes or functional imaging parameters or both reach a plateau for at least 15 h of additional treatment. Conclusion. Promising interventions ought to be continued in phase II/III trials until subjects reach an asymptote in the primary outcome for behavioral gains. For neuroimaging studies that aim to correlate brain-behavior measures during rehabilitation, the specific intervention should also continue until behavioral gains and cerebral adaptations have attained a persistent plateau. Future trials can investigate whether functional neuroimaging performed in parallel with repeated behavioral assessments can better inform researchers about the optimal duration of an experimental therapy and a subject’s maximal capacity for intervention-induced cerebral reorganization.

Special Considerations in Diagnosing and Treating Attention-Deficit/Hyperactivity Disorder

CNS Spectrums ◽  
2007 ◽  
Vol 12 (S9) ◽  
pp. 1-16 ◽  
Author(s):  
Sharon B. Wigal ◽  
Timothy L. Wigal
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Psychiatric Disorders ◽  
Behavioral Problems ◽  
Attention Deficit ◽  
Patient Population ◽  
Preschool Age ◽  
Expert Review ◽  
School Aged Children ◽  
Hyperactivity Disorder ◽  
Adolescents And Adults

AbstractAttention-deficit/hyperactivity disorder (ADHD) is a prevalent chronic condition that affects people of all ages, including young children, school-aged children, adolescents, and adults. Symptoms can be noted as early as preschool age, tend to progress into functional impairment and behavioral problems in later childhood, and typically persist into adulthood. Contrary to previous belief, the disorder does not resolve with puberty for the majority of children; rather, the symptoms are manifested differently throughout the lifecycle. Presentation in adults is heavily biased toward inattentive symptoms, which are less likely to draw notice than hyperactive or impulsive symptoms and may contribute to the underrecognition of ADHD in this patient population. Diagnosis is particularly difficult due in large part to the pronounced comorbidity of psychiatric disorders in this patient population. Identification may be even more difficult in adults than children as the diagnostic criteria are not as clear, adults have difficulty remembering symptoms prior to 7 years of age, and there is a high prevalence of comorbid psychiatric disorders in adults. Early identification and treatment of symptoms of ADHD in preschool-age children is essential to effective long-term management of the disorder. Both medication and behavioral treatments appear to alleviate the symptoms of ADHD, and evidence suggests that discontinuation of treatment leads to the reemergence of the condition. Efforts are currently continuing toward understanding the genetic underpinnings of ADHD.This expert review supplement will address the prevalence, comorbidity, treatment issues, and special considerations surrounding ADHD management throughout each stage of the lifecycle beginning with ADHD in preschool-aged children, continuing with school-aged children and adolescents, and ending with adulthood.

Clinical, Immunologic, and Molecular Spectrum of Patients with Immunodeficiency, Centromeric instability, and Facial anomalies (ICF) syndrome: a Systematic Review

2020 ◽  
Vol 20 ◽  
Author(s):  
Fatemeh Kiaee ◽  
Majid Zaki-Dizaji ◽  
Nasim Hafezi ◽  
Amir Almasi-Hashiani ◽  
Haleh Hamedifar ◽  
...  
Keyword(s):  
Motor Development ◽  
Fungal Infections ◽  
Disease Free Survival ◽  
Failure To Thrive ◽  
Facial Dysmorphism ◽  
Chronic Infections ◽  
Immune Disorder ◽  
Icf Syndrome ◽  
Facial Anomalies ◽  
Centromeric Instability

Background: Immunodeficiency, centromeric instability and facial dysmorphism )ICF) syndrome is a rare autosomal recessive immune disorder presenting with hypogammaglobulinemia, developmental delay, and facial anomalies. The ICF type 1, type 2, type 3 and type 4 are characterized by mutations in DNMT3B, ZBTB24, CDCA7 or HELLS gene, respectively. This study aimed to present a comprehensive description of the clinical, immunologic and genetic features of patients with ICF syndrome. Methods: PubMed, Web of Science, and Scopus were searched systemically to find eligible studies. Results: Forty-eight studies with 118 ICF patients who met the inclusion criteria were included in our study. Among these patients, 60% reported with ICF-1, 30% with ICF-2, 4% with ICF-3, and 6% with ICF-4. The four most common symptoms reported in patients with ICF syndrome were: delay in motor development, low birth weight, chronic infections, and diarrhea. Intellectual disability and preterm birth among patients with ICF-2 and failure to thrive, sepsis and fungal infections among patients with ICF-1 were also more frequent. Moreover, the median levels of all three immunoglobulins (IgA, IgG, IgM) were markedly reduced within four types of ICF syndrome. Conclusion: The frequency of diagnosed patients with ICF syndrome has increased. Early diagnosis of ICF is important since immunoglobulin supplementation or allogeneic stem cell transplantation can improve the disease-free survival rate.

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