Neurocognitive subtypes in patients with bipolar disorder and their unaffected siblings.

BACKGROUND: Our previous work revealed substantial heterogeneity in the cognitive profile of bipolar disorder (BD) due to the presence of three underlying cognitive subgroups characterized as: globally impaired, selectively impaired, or cognitively intact. In an effort to determine whether these subgroups are differentially related to genetic risk for the illness, we investigated whether cognitive deficits were more pronounced in unaffected siblings (UAS) of BD probands within identified clusters. METHODS: Cluster analysis was used to identify cognitive clusters in BD (N = 60). UAS (N = 49) were classified into groups according to their proband sibling's cluster assignment; comparisons were made across all clusters and healthy controls (HCs; N = 71). RESULTS: Three cognitive clusters in BD emerged: a globally impaired (36.7%), a selectively impaired (30%), and a cognitively intact cluster (33.3%). UAS showed a qualitatively similar pattern to their BD siblings; UAS of the globally impaired BD cluster showed verbal memory and general cognitive impairments relative to HCs. In contrast, UAS of the other two clusters did not differ from HCs. CONCLUSIONS: This study corroborates findings from prior work regarding the presence of cognitive heterogeneity in BD. UAS of subjects in the globally impaired BD cluster presented with a qualitatively similar cognitive profile to their siblings and performed worse than all other BD clusters and UAS groups. This suggests that inherited risk factors may be contributing to cognitive deficits more notably in one subgroup of patients with BD, pointing toward differential causes of cognitive deficits in discrete subgroups of patients with the disorder.

Abnormally increased and incoherent resting-state activity is shared between patients with schizophrenia and their unaffected siblings.

BACKGROUND: Several resting-state neuroimaging studies in schizophrenia indicate an excessive brain activity while others report an incoherent brain activity at rest. No direct evidence for the simultaneous presence of both excessive and incoherent brain activity has been established to date. Moreover, it is unclear whether unaffected siblings of schizophrenia patients who share half of the affected patient's genotype also exhibit the excessive and incoherent brain activity that may render them vulnerable to the development of schizophrenia. METHODS: 27 pairs of schizophrenia patients and their unaffected siblings, as well as 27 healthy controls, were scanned using gradient-echo echo-planar imaging at rest. By using amplitude of low-frequency fluctuations (ALFF) and regional homogeneity (Reho), we investigated the intensity and synchronization of local spontaneous neuronal activity in three groups. RESULTS: We observed that increased amplitude and reduced synchronization (coherence) of spontaneous neuronal activity were shared by patients and their unaffected siblings. The key brain regions with this abnormal neural pattern in both patients and siblings included the middle temporal, orbito-frontal, inferior occipital and fronto-insular gyrus. CONCLUSIONS: This abnormal neural pattern of excessive and incoherent neuronal activity shared by schizophrenia patients and their healthy siblings may improve our understanding of neuropathology and genetic predisposition in schizophrenia.

Handing the pen to the patient: reflective writing for children and families affected by genetic conditions.

Genetic diagnoses impact the Quality of Life (QoL) of patients and their families. While some patients and families report a positive impact on QoL, others are affected negatively by a genetic diagnosis. No matter the impact, it is clear that social support is needed for this population. Genetic healthcare providers should be aware of the need for psychosocial support and be equipped to provide or direct patients and families to the appropriate resources. Reflective writing offers a unique opportunity for families and health care providers to engage in self-reflection and expression, activities which have the potential to enhance QoL in a positive manner. The therapeutic potential of writing has been studied in many populations, from caregivers of elderly individuals with dementia, to cancer survivors, to survivors of traumatic experiences. Some of these interventions have shown promise for improving participants' QoL. However, reflective writing has never been studied in patients and families affected by genetic conditions. We propose that reflective writing therapy is a feasible, reproducible, and enjoyable approach to providing psychosocial support for our patients. Get it Write is a reflective writing workshop pilot project for those who have a personal or family history of a genetic diagnosis. Our hypothesis is that reflective writing will help engender acceptance and alleviate feelings of isolation. Get it Write does not focus on the stressful factors in the participants' lives, rather it serves to facilitate interactions with peers facing the same struggles, and with medical students in a non-medical context.

Subcortical Deformities in Schizophrenic Patients and Unaffected Siblings / 신경정신의학

OBJECTIVES: Abnormalities in various subcortical regions have been reported in previous structural neuroimaging studies for schizophrenia. To understand the subcortical abnormalities as a whole, all subcortical regions should be explored in each subject unlike most previous studies. Here, we explored major subcortical structures using volume measurement and shape analysis for schizophrenic patients (SZ), their unaffected siblings (Sib) and healthy controls without affected sibling (HC). METHODS: Structural magnetic resonance images were acquired from 24 SZ, 24 Sib and 19 HC. Both segmentation and shape analysis for subcortical structures was performed using FMRIB Integrated Registration and Segmentation Tool integrated within the FSL software. The group comparison of subcortical volumes was performed with multivariate analysis of variance (MANOVA). RESULTS: In SZ group, shape deformities were observed in the left nucleus caudates, left thalamus, left putamen and bilateral pallidus were increased compared with HC group. In Sib group, shape deformities were observed in the left pallidus, left putamen and left putamen was decreased compared with HC group. In Sib group, left nucleus accumbens was increased compared with SZ group. CONCLUSION: The result of this study using volume measurement and shape analysis suggest that subcortical structural abnormalities in cortico-striato-pallido-thalamic and reward circuits are related with both the pathology of schizophrenia and genetic predisposition.