ABSTRACT
This review investigates the association between neurodevelopmental disorders (NDD) and variations of the gene HNF1B. Heterozygous intragenetic mutations or heterozygous gene deletions (17q12 microdeletion syndrome) of HNF1B are the cause of a multi-system developmental disorder, termed renal cysts and diabetes syndrome (RCAD). Several studies suggest that in general, patients with genetic variation of HNF1B have an elevated risk for additional neurodevelopmental disorders, especially autism spectrum disorder (ASD) but a comprehensive assessment is yet missing. This review provides an overview including all available studies of patients with HNF1B mutation or deletion with comorbid NDD with respect to the prevalence of NDDs and in how they differ between patients with an intragenic mutation or 17q12 microdeletion. A total of 31 studies was identified, comprising 695 patients with variations in HNF1B, (17q12 microdeletion N = 416, mutation N = 279). Main results include that NDDs are present in both groups (17q12 microdeletion 25.2% vs. mutation 6.8%, respectively) but that patients with 17q12 microdeletions presented more frequently with any NDDs and especially with learning difficulties compared to patients with a mutation of HNF1B. The observed prevalence of NDDs in patients with HNF1B variations seems to be higher than in the general population, but the validity of the estimated prevalence must be deemed insufficient. This review shows that systematical research of NDDs in patients with HNF1B mutations or deletions is lacking. Further studies regarding neuropsychological characteristics of both groups are needed. NDDs might be a concomitant of HFN1B-related disease and should be considered in clinical routine and scientific reports.
ABSTRACT
OBJECTIVES: Although emotional instability and problems in emotion regulation (ER) are known to be linked to the formation and maintenance of psychosis and paranoia, it remains unclear whether the use of specific ER strategies is associated with it. The first aim of the study was to explore the association between emotional instability and paranoia. The second and third aims were to investigate whether the use of maladaptive ER strategies leads to paranoia in patients with psychosis in daily life and whether the use of more adaptive ER strategies reduces paranoia. DESIGN: A prospective momentary assessment study over the course of 6 days was performed. METHOD: Participants with psychosis (n = 32) reported repeatedly over six consecutive days on the presence and instability of positive and negative emotions, their use of adaptive (reappraisal, acceptance, distraction, social sharing, reflection) and maladaptive ER strategies (rumination, expressive suppression) and momentary paranoia in their daily life. RESULTS: Hierarchical linear regression analysis revealed that patients with psychosis who presented pronounced instability of negative emotions showed more severe levels of state paranoia. In addition, patients with psychosis who used expressive suppression when confronted with negative emotions at one point in time presented more pronounced levels of state paranoia at the following point in time. CONCLUSION: The results presented here suggest that both emotional instability and the use of expressive suppression might cause state paranoia and thus add to our understanding of causal mechanisms related to paranoia such as instability of negative emotions and the use of less adaptive ER strategies. PRACTITIONER POINTS: Maladaptive emotion regulation strategies and more pronounced instability of negative emotions are relevant to paranoia in patients with psychosis and should be a special focus of CBTp interventions. Future interventions designed for patients suffering from paranoia should promote coping with unstable negative emotions and replacing or reducing maladaptive emotion regulation strategies with adaptive ones.