scholarly journals A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report

BMC Neurology ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Meliza Angelica J. de Leon ◽  
Raymond L. Rosales ◽  
Christine Klein ◽  
Ana Westenberger

Abstract Background Myoclonus-dystonia is a rare movement disorder with an autosomal dominant inheritance pattern characterized by a combination of myoclonic jerks and dystonia that may have psychiatric manifestations. Our aim is to present neurologic and psychiatric phenotypic characteristics in the first Filipino bi-ethnic myoclonus-dystonia patient and her father. Case presentation We investigated a Filipino myoclonus-dystonia patient with a positive family history. This 21-year-old woman of mixed Filipino-Greek ethnicity presented with involuntary jerking movements of her upper extremities, head, and trunk. Her symptoms affected her activities of daily living which led her to develop moderate depression, mild to moderate anxiety, and mild obsessive-compulsive disorder (OCD). Her 49-year-old Greek father suffered from adolescence-onset myoclonus-dystonia. Conclusion Genetic testing revealed a novel epsilon-sarcoglycan (SGCE) gene nonsense mutation c.821C > A; p.Ser274* that confirmed our clinical diagnosis. For co-morbid anxiety, depression, and OCD, this patient was given duloxetine, in addition to clonazepam for the myoclonus and dystonia.

Medicina ◽  
2021 ◽  
Vol 57 (8) ◽  
pp. 793
Author(s):  
Laura Orsolini ◽  
Simone Pompili ◽  
Virginio Salvi ◽  
Umberto Volpe

Background and Objectives: The Internet is widely used and disseminated amongst youngsters and many web-based applications may serve to improve mental health care access, particularly in remote and distant sites or in settings where there is a shortage of mental health practitioners. However, in recent years, specific digital psychiatry interventions have been developed and implemented for special populations such as children and adolescents. Materials and Methods: Hereby, we describe the current state-of-the-art in the field of TMH application for young mental health, focusing on recent studies concerning anxiety, obsessive-compulsive disorder and affective disorders. Results: After screening and selection process, a total of 56 studies focusing on TMH applied to youth depression (n = 29), to only youth anxiety (n = 12) or mixed youth anxiety/depression (n = 7) and youth OCD (n = 8) were selected and retrieved. Conclusions: Telemental Health (TMH; i.e., the use of telecommunications and information technology to provide access to mental health assessment, diagnosis, intervention, consultation, supervision across distance) may offer an effective and efficacious tool to overcome many of the barriers encountering in the delivery of young mental health care.


2021 ◽  
Vol 12 ◽  
pp. 215013272110167
Author(s):  
Tara Rava Zolnikov ◽  
Tanya Clark ◽  
Tessa Zolnikov

Anxiety and fear felt by people around the world regarding the coronavirus pandemic is real and can be overwhelming, resulting in strong emotional reactions in adults and children. With depressive and anxiety disorders already highly prevalent in the general population (300 million worldwide), depression and/or anxiety specifically because of the pandemic response is likely. Moreover, the current state of panic in the face of uncertainty is apt to produce significant amounts of stress. While this situation has the potential to cause psychological disorders in previously unaffected populations, perhaps more impactful is the exacerbation of symptoms of many existing disorders including anxiety, depression, post-traumatic stress disorder (PTSD), obsessive-compulsive disorder (OCD) and hoarding disorder.


2021 ◽  
pp. 105413732110239
Author(s):  
G. Brewer ◽  
L. Centifanti ◽  
J. Castro Caicedo ◽  
G. Huxley ◽  
C. Peddie ◽  
...  

The psychological impact of the COVID-19 pandemic on coronavirus patients, health care workers, and the general population is clear. Relatively few studies have, however, considered the impact of the pandemic on those with pre-existing mental health conditions. Therefore, the present study investigates the personal experiences of those with anxiety, depression, and obsessive-compulsive disorder during COVID-19. We conducted a qualitative study utilising Reddit discussion forum posts. We conducted three separate thematic analyses from 130 posts in subreddit forums aimed for people identifying with anxiety, depression, and obsessive-compulsive disorder. We identified a number of similar discussion forum themes (e.g., COVID-19 intensifying symptoms and a lack of social support), as well as themes that were unique to each forum type (e.g., hyperawareness and positive experiences during the pandemic). Findings should guide future practice and the support provided to those living with mental distress.


1989 ◽  
Vol 155 (S8) ◽  
pp. 15-24 ◽  
Author(s):  
D. L. Murphy ◽  
J. Zohar ◽  
C. Benkelfat ◽  
M. T. Pato ◽  
T. A. Pigott ◽  
...  

Involvement of the brain serotonin (5-HT) neurotransmitter system in obsessive-compulsive disorder (OCD) was originally suggested on the basis of therapeutic effects found with the semi-selective serotonin uptake inhibitor, clomipramine. More recent studies directly comparing clomipramine with non-selective or norepinephrine-selective uptake inhibitors, such as desipramine or nortriptyline, as well as studies with new, more selective serotonin uptake inhibitors, including fluvoxamine and fluoxetine, have supported that hypothesis. Clomipramine's antiobsessional effect has been augmented with the serotonin precursor, L-tryptophan, or with lithium, which has prominent serotonergic effects. Patients whose OCD symptoms improved on clomipramine worsened when the drug was discontinued (regardless of duration of therapy) and improved when clomipramine was reinstituted. OCD symptoms also worsened when metergoline, a 5-HT antagonist, was given to patients who had improved with clomipramine. Metergoline given alone had no effect. Administration of m-chlorophenylpiperazine (m-CPP), a 5-HT receptor agonist, to untreated OCD patients increased their anxiety, depression, and dysphoria, and exacerbated their OC symptoms. After 4 months of clomipramine therapy, m-CPP failed to produce the same behavioural effects, suggesting an alteration of a 5-HT subsystem (possibly downregulation of some 5-HT receptors). The data reviewed suggest an important role for an abnormal brain 5-HT subsystem in patients with OCD.


Author(s):  
Deepika Srivastav ◽  
Tej Bahadur Singh

Comorbidity refers to presence of one or more additional disorders along with a primary disorder. It affects the prognosis and course of treatment. It is often difficult for clinician to make correct diagnosis in presence of various disorders. The clinical picture of various disorders interferes with treatment process and the outcome. There are some disorders in psychiatry, known as chronic illness. These are schizophrenia, bipolar disorder and obsessive-compulsive disorder. All these three disorder have a major effect on individual's life. Anxiety, depression, substance abuse and panic symptoms are common in schizophrenia; hence the clinical picture changes frequently. While the literature suggests that presence of two or three disorders make treatment worse, hence multidisciplinary treatment need to be used.


2019 ◽  
Vol 44 (1) ◽  
pp. 120-135 ◽  
Author(s):  
Tamara Leeuwerik ◽  
Kate Cavanagh ◽  
Clara Strauss

Abstract Little is known about the role of mindfulness and self-compassion in obsessive-compulsive disorder. This cross-sectional study examined associations of mindfulness and self-compassion with obsessive-compulsive disorder symptoms and with the obsessive beliefs and low distress tolerance thought to maintain them. Samples of treatment-seeking adults (N = 1871) and non-treatment-seeking adults (N = 540) completed mindfulness, self-compassion, obsessive-compulsive disorder, anxiety, depression, obsessive beliefs and distress tolerance questionnaires. Participants with clinically significant obsessive-compulsive disorder symptoms reported lower trait mindfulness and self-compassion compared to participants with clinically significant anxiety/depression and to non-clinical controls. Among the clinical sample, there were medium-large associations between mindfulness and self-compassion and obsessive-compulsive disorder symptoms, obsessive beliefs and distress tolerance. Mindfulness and self-compassion were unique predictors of obsessive-compulsive disorder symptoms, controlling for depression severity. Once effects of obsessive beliefs and distress tolerance were controlled, a small effect remained for mindfulness (facets) on obsessing symptoms and for self-compassion on washing and checking symptoms. Directions for future research and clinical implications are considered in conclusion.


2017 ◽  
Vol 41 (S1) ◽  
pp. s844-s844
Author(s):  
K. Vrbova ◽  
J. Prasko ◽  
A. Cinculova ◽  
B. Krnacova ◽  
B. Talova ◽  
...  

IntroductionA recent reviews of published researchers suggest, that up to 25% of schizophrenia patients suffer from obsessive-compulsive symptoms (OCs) and about 12% fulfill the diagnostic criteria for obsessive-compulsive disorder (OCD). Recently, the interest in this issue has significantly increased, probably due to the finding, that second generation antipsychotics, especially clozapine, might induce or aggravate OCs.ObjectiveThe aim of our study was to investigate and clarify the literature data about the extent to which comorbid OCs affects the severity and course of schizophrenia.MethodsThe articles were identified by the keywords “schizophrenia comorbidity” and “obsessive compulsive disorder”, using the medline and web of science search. Additional information was obtained by studying the references of summaries of relevant articles.ResultsObsessive-compulsive symptoms or fully expressed obsessive-compulsive disorder leads to more severe overall psychopathology and poorer treatment outcomes in patients with schizophrenia. This comorbidity is accompanied by increased neurocognitive impairment, high levels of anxiety, depression, and suicidality, less favorable levels of social and vocational functioning, and greater social and health service utilization.ConclusionsIn clinical practice, schizophrenia patients should be carefully monitored for OCs, which may occur at any time during the schizophrenia disease. Early recognition and targeted treatment of this comorbidity reduce patient's distress; positively influence the course of illness and overall treatment outcome.Disclosure of interestThe authors have not supplied their declaration of competing interest.


Assessment ◽  
2017 ◽  
Vol 26 (6) ◽  
pp. 1084-1104 ◽  
Author(s):  
Lauren E. Szkodny ◽  
Michelle G. Newman

Worry, rumination, and obsessive thinking are theorized to differ on temporal orientation, positive perceived function, degree of intrusiveness, and discordance with one’s self-concept. However, prior findings with respect to such differences may be due to method variance of the measures used and/or inclusion of items confounded by diagnostic symptoms. Accurately capturing differences between types of perseverative thought linked to psychopathology and understanding whether such aspects are common across disorders or specific to some may be important to designing effective treatments for them. Two studies are presented detailing the development and validation of the Perseverative Cognitions Questionnaire (PCQ). The PCQ is a 45-item self-report measure that assesses six dimensional characteristics of worry, rumination, and obsessive thinking previously found to discriminate these thought styles: Lack of Controllability, Preparing for the Future, Expecting the Worst, Searching for Causes/Meaning, Dwelling on the Past, and Thinking Discordant with Ideal Self. Factor structure of the PCQ was established using principal components, exploratory factor, and confirmatory factor analyses. PCQ scales exhibited differential convergence with measures of perseverative thought and psychopathology. The PCQ also demonstrated acceptable retest correlations across 1- and 2-week periods, and incremental validity when predicting symptoms of anxiety, depression, and obsessive compulsive disorder.


2021 ◽  
Vol 4 (4) ◽  
pp. 55-98
Author(s):  
Ali Mahmud Shoeib ◽  
◽  
Ereny Samir Gobrial ◽  

The aims of this study were to identify the correlation between Depersonalization - Derealization Disorder (DPDR), anxiety, depression, and obsessive-compulsive disorders and to propose a constructive model of anxiety, depression and obsessive- compulsive disorders related to Depersonalization Derealization Disorder of university students. The sample consisted of 344 students (325 female and 19 male), with a mean age of (24.4) years. The study applied the following scales: structured clinical interview for depersonalization-derealization spectrum, Cambridge Depersonalization Scale, Generalised anxiety scale (GAD-7), Hamilton Depression Rating Scale and Maudsley Obsessional–Compulsive Inventory. Results indicated that obsessive-compulsive disorder and depression played a major role in developing DPDR due to a significant positive effect of these disorders, while anxiety had a weak correlation. The study developed a constructive model of variables related to DPDR based on AMOS software. The results illustrated that the contribution of obsessive-compulsive and depression as independent variables in predicting PDRD was 61.8 and 44.9, respectively, while no effect of anxiety was recorded. The findings also developed a model for the causal relationships between anxiety, depression, and obsessive-compulsive influence on DPDR disorder. The results of the causal model test indicated that the obsessive-compulsive variable is hypothesized to be a mediator in influencing the DPDR disorder as it is affected by both anxiety and depression.


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