Conradi-Hünerman-Happle Syndrome and Obsessive-Compulsive Disorder: a clinical case report.

BACKGROUND: Obsessive-Compulsive Disorder (OCD) is a common and chronic psychiatric disorder with significant morbidity characterized by intrusive, uncontrollable and reoccurring thoughts (i.e., obsessions) and/or ritualistic behaviours (i.e., compulsions). Conradi-Hünerman-Happle Syndrome (CHHS) is a rare inherited X-linked dominant variant of chondrodysplasia punctata, a heterogeneous group of rare bone dysplasias characterized by punctate epiphyseal calcifications of complex etiology and pathophysiology that remain to be defined. Available literature reveals a lacuna in regards to the coexistence of the entities with no clinical reports described. CASE PRESENTATION: A 12 year old female patient with diagnosis of CHHS, presents to psychiatric consultation due to aggravation of her OCD clinical picture, with aggravation of hand-washing frequency during the Covid-19 pandemic with significant functional impact. Psychopharmacological treatment aimed at OCD with Selective Serotonin Reuptake Inhibitor (SSRI) and antipsychotic was instituted with favourable, albeit partial response. CONCLUSIONS: The authors aim to describe a clinical case in which the patient presents with Conradi-Hünerman-Happle Syndrome and Obsessive-Compulsive Disorder. Clinical descriptions of CHHS and OCD are not available in the literature. Through this case description the authors aim to present a rare case as well as discuss an eventual association between etiology and/or pathophysiology of the two disorders.

What makes tics tick? Insights into Tourette syndrome.

This issue of Biomedical Journal provides the reader with articles concerning the latest understanding of Tourette syndrome (TS), the relation to genetic predisposition, defects in the dopaminergic system, and related comorbidities which further complications like sleep disruption. Treatment approaches for TS, attention deficit hyperactivity disorder and developmental coordination disorder are discussed. The second section of this issue offers insights into inside out integrin activation and its link to T cell activation, demonstrates how polarity in immune cells allows adoption to specialized functions, and describes the endosomal signaling of internalized T cell receptors (TCRs). The link between mutations in TCR signaling and immunodeficiencies is elucidated, as well as the interactions of thymocyte-expressed molecule involved in selection in T cell development. Additionally, we learn about a potential biomarker for colorectal cancer, screening tools for determining frailty in older adults, surgical approaches in spinal metastases, the influence of autophagy on mating behavior, and the effect of nitrite administration on SNARE proteins associated with insulin secretion. Finally, parameters for surgery in breast cancer are discussed, as well as gender and age dependent pain perception in a lysosomal storage disease, and the use of laser meridian massage in opioid use disorder. Three letters complement this issue, one concerning neuroimaging in pediatric COVID-19 patients, and two discussing the role of cancer antigen-125 and renal impairment in ovarian cancer patients.

Excessive reassurance seeking versus compulsive checking in OCD: Comparing implicit motivators and mechanisms.

BACKGROUND AND OBJECTIVES: Excessive reassurance seeking (ERS) in OCD increases following scenarios with high threat and personal responsibility, but the mechanism via which ERS addresses these concerns is unclear. We investigated whether reassurance following OCD-related threats facilitated temporary threat re-appraisal and/or transferred responsibility to others. We also examined the 'checking by proxy' theory of OCD ERS by comparing the functional mechanisms of reassurance and checking behaviour. METHODS: Community participants (N = 398) were recruited through MTurk and randomised to one of four conditions: ambiguous object-derived (checking) information, ambiguous person-derived (reassurance) information, unambiguous object-derived information and unambiguous person-derived information. Participants read scenarios that conveyed a risk of harm or contamination before imagining receiving reassurance or checking information as per their condition. Ratings of personal and external responsibility, threat likelihood and uncertainty were made before and after receiving the information. RESULTS: In support of a checking by proxy hypothesis of ERS, participants in the unambiguous information conditions reported decreased uncertainty, decreased estimated threat likelihood and increased responsibility of others, regardless of whether they imagined checking or receiving reassurance. Those in the ambiguous conditions reported no changes in threat estimation or responsibility beliefs. OCD symptom level moderated responses to ambiguity: unlike low OCD, high OCD participants did not respond differentially to ambiguous versus unambiguous reassurance. LIMITATIONS: The study was performed online due to Covid-19 restrictions and utilised non-clinical participants. CONCLUSIONS: Like checking, reassurance facilitates short-term threat re-appraisal and diffuses responsibility following obsessive threats. Differentiated responses to reassurance ambiguity disappear as OC symptoms increase.

The associations of obsessive-compulsive symptom dimensions and general severity with suicidal ideation in patients with obsessive-compulsive disorder: The role of specific stress responses to COVID-19.

Suicidal ideation is prevalent in patients with obsessive-compulsive disorder (OCD); but, during COVID-19, it may be increased. The present study aimed to examine the effects of obsessive-compulsive (OC) symptom dimensions and OCD severity on suicidal ideation by considering the role of stress responses in reaction to COVID-19 in a clinical sample of patients with OCD. In a cross-sectional study, 304 patients with OCD completed measures of OC symptom dimensions, OCD severity, general mental health (depression and anxiety), and COVID-19-related stress. Results showed that after controlling for depression, anxiety, comorbidity, and lifetime suicide attempts, the OC symptom dimensions of responsibility for harm and unacceptable obsessional thoughts as well as general severity had indirect effects on suicidal ideation through the specific stress responses to COVID-19, including traumatic stress and compulsive checking. The study shows that OCD patients with specific OC symptom dimensions and severe OCD are more likely to have suicidal ideation during the pandemic. Further, the specific stress responses to COVID-19 may be an underlying mechanism. Clinicians should carefully assess suicidal ideation in patients with OCD who experience responsibility for harm and unacceptable thoughts, particularly during the pandemic.