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Background: To test the functional implications of impaired white matter (WM) connectivity among patients with schizophrenia and their relatives, we examined the heritability of fractional anisotropy (FA) measured on diffusion tensor imaging data acquired in Pittsburgh and Philadelphia, and its association with cognitive performance in a unique sample of 175 multigenerational non-psychotic relatives of 23 multiplex schizophrenia families and 240 unrelated controls (total = 438). Methods: We examined polygenic inheritance (h2r) of FA in 24 WM tracts bilaterally, and also pleiotropy to test whether heritability of FA in multiple WM tracts is secondary to genetic correlation among tracts using the Sequential Oligogenic Linkage Analysis Routines. Partial correlation tests examined the correlation of FA with performance on eight cognitive domains on the Penn Computerized Neurocognitive Battery, controlling for age, sex, site and mother's education, followed by multiple comparison corrections. Results: Significant total additive genetic heritability of FA was observed in all three-categories of WM tracts (association, commissural and projection fibers), in total 33/48 tracts. There were significant genetic correlations in 40% of tracts. Diagnostic group main effects were observed only in tracts with significantly heritable FA. Correlation of FA with neurocognitive impairments was observed mainly in heritable tracts. Conclusions: Our data show significant heritability of all three-types of tracts among relatives of schizophrenia. Significant heritability of FA of multiple tracts was not entirely due to genetic correlations among the tracts. Diagnostic group main effect and correlation with neurocognitive performance were mainly restricted to tracts with heritable FA suggesting shared genetic effects on these traits. [ABSTRACT FROM AUTHOR]

Purpose: The aim was to investigate sexual function and fertility in female adults operated on for anorectal malformations (ARM)., Methods: This was a cross-sectional questionnaire-based study including female adult patients treated for ARM at our institution between 1994 and 2003. Sexual function in females was assessed using the Profile of Sexual Function (PFSF). Additional questions regarding fertility were answered by the participants. Patient characteristics were retrospectively retrieved from the medical records and descriptive statistics were used for analysis. Sexual function outcomes were compared to a control group from a previously published group of females. Composite outcome analysis was performed using previously published data to determine the potential impact of bowel function and health-related quality of life on sexual function. The ethics review authorities approved the study., Results: A total of 14 of 30 (46.7%) females responded to the questionnaires and had a mean age of 21.1 years (range 18-26). No association was found between PFSF and age or bowel function (Bowel Function Score), however, a strong correlation was found between PFSF and health-related quality of life (HRQoL) with a Spearman correlation of ρ 0.82 (p = 0.0011). The general satisfaction question was strongly associated with their total PFSF score (ρ = 0.71, p = 0.0092). Except for the "desire" item, the females in this cohort did not have significantly worse sexual function than the control population(p = 0.015). Ten of fourteen (71.4%) females had had their sexual debut at a mean age of 16.3 years and two of these women (20%) have been pregnant. All females had had menarche at a mean age of 12.7 years., Conclusion: Sexual function in adult females was comparable to healthy controls except for the "desire" item where the cohort reported poorer outcomes. The cohort's sexual function had a direct association with their reported HRQoL where individuals with worse HRQoL also reported poorer sexual function., Level of Evidence: III., (© 2024. The Author(s).)

Background: Controlled outcomes into adulthood for females with anorectal malformation (ARM) are still scantily studied. The primary aim was to investigate bowel function, bladder function and health-related quality of life (HRQoL) in females operated for ARM., Methods: A cross-sectional questionnaire-based observational study was performed including females treated for ARM at our institution between 1994 and 2017. The bowel function was assessed with bowel function score (BFS) and urinary tract function with lower urinary tract symptoms (LUTS) questionnaires. HRQoL was investigated with validated age-dependent questionnaires. Patient characteristics were retrospectively retrieved from the medical records and descriptive statistics were used for analysis. HRQoL outcomes were compared with normative data whilst bowel and bladder function outcomes were compared to age-matched female controls., Results: Forty-four (41.5 %) of 106 females responded to the questionnaires. Ten of 29 patients (34.5 %) aged 4-17 years and 4 of 14 patients (28.6%) aged ≥18 years, reported a well-preserved bowel function (BFS≥17). Constipation issues decreased with age. BFS was similar in patients with perineal and vestibular fistulas. Thirty-six (83.7%) of the patients had at least one LUTS. No adult patients had issues with involuntary urinary leakage. Adults scored significantly (p = 0.004) lower than normative data regarding HRQoL, while children and adolescents scored comparably to norm data., Conclusions: Only 28.6 % of the adult patients reported a well-preserved bowel function, similar to the proportion reported by children 4-17 years of age. Adult patients appear to have a diminished HRQoL, however the correlation with BFS was weak., Level of Evidence: III., Competing Interests: Conflicts of interest The authors have no actual or potential conflict of interest in relation to this manuscript., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Purpose: There is a knowledge gap regarding long-term outcomes for males undergoing surgery for an anorectal malformation (ARM). The purpose of this study was to investigate bowel function, bladder function, and health-related quality of life (HRQoL) in male patients with an anorectal malformation., Methods: This cross-sectional questionnaire-based study included males treated for ARM at our institution between 1994 and 2017. Bowel function was assessed with bowel function score (BFS) while urinary tract function was assessed with lower urinary tract symptoms (LUTS) questionnaires. Health-related quality of life (HRQoL) was investigated using age-relevant questionnaires (KIDSCREEN and PGWBI). Patient characteristics were retrospectively collected from the medical records and descriptive statistics were used for analysis. Functional outcomes were compared with gender and age-matched controls while HRQoL was compared to normative data. The study was approved by ethics review authorities., Results: A total of 58 (44.6%) of 130 males responded to the questionnaires. Regarding bowel function, 24 (42.1%) of 57 patients and 81 (95.3%) of 85 controls, respectively, reported a well-preserved bowel function represented by a BFS ≥ 17 (p < 0.001). Soiling issues and 'feels urge' items improved significantly with age. In a linear regression model, BFS increased significantly with age. For most parameters, the proportion of ARM patients with lower urinary tract symptoms was larger, though not significantly, compared to the controls. However, straining and stress incontinence were reported significantly more often by ARM patients. In patients and controls, voiding outcomes in terms of prevalence of having symptoms and the number of cumulative symptoms drop with increasing age. Children and adults reported similar or, in some domains, better HRQoL outcomes when compared to normative European data., Conclusion: Bowel function is impaired in male patients with ARM but significantly improves with age. Urinary tract function was affected, but overall comparable to the controls. HRQoL was unaffected. No significant association between the studied outcomes could be shown., Level of Evidence: III., (© 2024. The Author(s).)

Background: Autonomic dysfunction is prevalent in Parkinson's disease (PD) and can worsen quality of life. We examined: (a) whether specific autonomic symptoms were more strongly associated with anxiety or depression in PD and (b) whether overall autonomic dysfunction predicted mood trajectories over a 5-year period., Methods: Newly diagnosed individuals with PD ( N = 414) from the Parkinson's Progression Markers Initiative completed self-report measures of depression, anxiety, and autonomic symptoms annually. Cross-sectional linear regressions examined relationships between specific autonomic subdomains (gastrointestinal, cardiovascular, thermoregulatory, etc.) and mood. Multilevel modeling examined longitudinal relationships with total autonomic load., Results: Gastrointestinal symptoms were associated with both higher anxiety ( b = 1.04, 95% CI [.55, 1.53], P < .001) and depression ( b = .24, 95% CI [.11, .37], P = .012), as were thermoregulatory symptoms (anxiety: b = 1.06, 95% CI [.46, 1.65], P = .004; depression: b = .25, 95% CI [.09, .42], P = .013), while cardiovascular ( b = .36, 95% CI [.10, .62], P = .012) and urinary symptoms ( b = .10, 95% CI [.01, .20], P = .037) were associated only with depression. Longitudinally, higher total autonomic load was associated with increases in both depression ( b = .01, 95% CI [.00, .02], P = .015) and anxiety ( b = .04, 95% CI [.01, .06], P < .001) over time, as well as occasion-to-occasion fluctuations (depression: b = .08, 95% CI [.05, .10], P < .001; anxiety: b = .24, 95% CI [.15, .32], P < .001)., Conclusion: Findings suggest autonomic dysfunction, particularly gastrointestinal and thermoregulatory symptoms, may be an indicator for elevated anxiety/depression and a potential treatment target early on in PD., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: The Cognitive Change Index (CCI-20) is a validated questionnaire that assesses subjective cognitive complaints (SCCs) across memory, language, and executive domains. We aimed to: (a) examine the internal consistency and construct validity of the CCI-20 in patients with movement disorders and (b) learn how the CCI-20 corresponds to objective neuropsychological and mood performance in individuals with Parkinson's disease (PD) or essential tremor (ET) seeking deep brain stimulation (DBS)., Methods: 216 participants ( N = 149 PD; N = 67 ET) underwent neuropsychological evaluation and received the CCI-20. The proposed domains of the CCI-20 were examined via confirmatory (CFA) and exploratory (EFA) factor analyses. Hierarchical regressions were used to assess the relationship among subjective cognitive complaints, neuropsychological performance and mood symptoms., Results: PD and ET groups were similar across neuropsychological, mood, and CCI-20 scores and were combined into one group who was well educated ( m = 15.01 ± 2.92), in their mid-60's ( m = 67.72 ± 9.33), predominantly male (63%), and non-Hispanic White (93.6%). Previously proposed 3-domain CCI-20 model failed to achieve adequate fit. Subsequent EFA revealed two CCI-20 factors: memory and non-memory ( p < 0.001; CFI = 0.924). Regressions indicated apathy and depressive symptoms were associated with greater memory and total cognitive complaints, while poor executive function and anxiety were associated with more non-memory complaints., Conclusion: Two distinct dimensions were identified in the CCI-20: memory and non-memory complaints. Non-memory complaints were indicative of worse executive function, consistent with PD and ET cognitive profiles. Mood significantly contributed to all CCI-20 dimensions. Future studies should explore the utility of SCCs in predicting cognitive decline in these populations.

Introduction: Dispositional traits of wellbeing and stress-reaction are strong predictors of mood symptoms following stressful life events, and the COVID-19 pandemic introduced many life stressors, especially for healthcare workers., Methods: We longitudinally investigated the relationships among positive and negative temperament group status (created according to wellbeing and stress-reaction personality measures), burnout (exhaustion, interpersonal disengagement), COVID concern (e.g., health, money worries), and moral injury (personal acts, others' acts) as predictors of generalized anxiety, depression, and post-traumatic stress symptoms in 435 healthcare workers. Participants were employees in healthcare settings in North Central Florida who completed online surveys monthly for 8 months starting in October/November 2020. Multidimensional Personality Questionnaire subscale scores for stress-reaction and wellbeing were subjected to K-means cluster analyses that identified two groups of individuals, those with high stress-reaction and low wellbeing (negative temperament) and those with the opposite pattern defined as positive temperament (low stress-reaction and high wellbeing). Repeated measures ANOVAs assessed all time points and ANCOVAs assessed the biggest change at timepoint 2 while controlling for baseline symptoms., Results and Discussion: The negative temperament group reported greater mood symptoms, burnout, and COVID concern, than positive temperament participants overall, and negative participants' scores decreased over time while positive participants' scores increased over time. Burnout appeared to most strongly mediate this group-by-time interaction, with the burnout exhaustion scale driving anxiety and depression symptoms. PTSD symptoms were also related to COVID-19 health worry and negative temperament. Overall, results suggest that individuals with higher stress-reactions and more negative outlooks on life were at risk for anxiety, depression, and PTSD early in the COVID-19 pandemic, whereas individuals with positive temperament traits became more exhausted and thus more symptomatic over time. Targeting interventions to reduce mood symptoms in negative temperament individuals and prevent burnout/exhaustion in positive temperament individuals early in an extended crisis may be an efficient and effective approach to reduce the mental health burden on essential workers., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Gertler, Dale, Tracy, Dorsett, Sambuco, Guastello, Allen, Cuffe and Mathews.)