How word meaning structure relates to executive functioning and theory of mind in children with developmental language disorder: A multiple case study.

Background and aims: Many children with developmental language disorder (DLD) have difficulties in executive functioning (EF) and theory of mind (ToM). These difficulties might be explained by the theory that children's conceptual understanding changes over five stages of word meaning structure, from concrete and context-dependent to abstract and precise. We present a multiple case study examining how word meaning structure relates to EF and ToM in children with DLD. Methods: Participants were five children with DLD aged 9-12 and five typically developing children matched for age, gender, and nonverbal intelligence. Word meaning structure was assessed using new dynamic test. EF was assessed using the Zoo Map Task and Behavioral Rating Inventory for EF. ToM was assessed using the ToM test, Frith-Happé Animations, and Bermond-Vorst Alexithymia Questionnaire. Behavioral problems were measured using the Child Behavior Checklist. Anamnestic interviews with the parents were conducted to describe the case histories. Results: For the children with DLD, lower scores in the word meaning structure task were observed compared to those observed for their matched peers, with no statistical test applied. Word meaning structure related positively to EF and ToM, but not to behavioral problems. Instances in which word meaning structure dissociates from EF and ToM are discussed in individual case descriptions. Conclusions: By linking language to conceptual development, variations in word meaning structure may explain some EF and ToM difficulties in children with DLD. Implications: The present study offers a basis for future research on the relationships among word meaning structure, EF, and ToM.

Solitary Functioning Kidneys Attenuate Renal Hemodynamics Responses to Angiotensin II in Male But Not in Female Rats.

Backgrounds: People with solitary functioning kidneys (SFK) are prone to renal failure with time. Accordingly, local renin angiotensin system (RAS) and renal functions in subjects with SFK may act differently compared to normal condition. This study was designed to determine the renal hemodynamics responses to angiotensin II (Ang. II) in SFK male and female rats. Methods: Fifty to sixty-day-old male and female Wistar rats were subjected to unilateral renal artery obstruction, and 28 days later basal renal hemodynamic responses to Ang. II were examined in SFK groups compared to sham groups. Results: The findings indicated lower renal vascular resistance (RVR) and renal blood flow (RBF) responses to Ang. II in male SFK compared to sham group. Such observation was not seen in female animals. Conclusions: An increase in renal metabolism due to hyperfunction, especially in SFK male rats, may cause a decrease in RVR. Moreover, the lower RBF response to Ang. II may be related to alteration to Ang. II receptors in the remnant kidneys in SFK rats.

Does the good life feel good? The role of positive emotion in competing conceptions of the good life.

Flourishing refers to one kind of generalized wellbeing. Contemporary flourishing research often privileges positive emotion in the theorization and measurement of the construct, such that flourishing is frequently conceptualized as involving a predominance of positive over negative emotions. Positive emotions are thus, on some views of flourishing, seen as an essential component of "the good life." This paper explores the nuanced variations in conceptions of the good life, focusing on the interplay between positive emotion and flourishing. Through an analysis of contemporary perspectives on flourishing, we underscore the diversity in conceptualizations of flourishing and the implications of this diversity for flourishing theorists. Our review reveals significant disparities in perspectives regarding the significance of positive emotion in the pursuit of a good life. Furthermore, we delineate the theoretical distinctions between objective-list approaches and functional approaches to flourishing, highlighting their respective advantages and limitations. Theoretical dissensus persists regarding whether positive emotion is a necessary constituent of the good life, thus prompting a critical examination of the justification for its inclusion in flourishing models. Finally, we emphasize the need for greater theoretical clarity in defining wellbeing to inform both research endeavors and societal discourse. We suggest that an adequate appreciation of variation in the development and maintenance of flourishing requires admitting for more complex relationships between the construct and both positive and negative emotionality, while embracing the cultural and individual variety that are unavoidable in accurate models of human life.

Reexamination of the relationships among neurocognition, self-defeatist beliefs, experiential negative symptoms, and social functioning in a sample of patients diagnosed with chronic schizophrenia and schizoaffective disorder.

PURPOSE: This study proposed and evaluated a theoretical model for exploring the relationships between neurocognition, self-defeatist beliefs, experiential negative symptoms, and social functioning in individuals with chronic schizophrenia. METHOD: The study recruited 229 individuals given a diagnosis of schizophrenia and schizoaffective disorders from outpatient clinics and the day ward of a mental health hospital. After informed consent was obtained, the participants underwent assessments using the backward digit span, the digit symbol, and measures of self-defeatist beliefs, experiential negative symptoms, and social functioning. A structural equation model was applied to assess the fitness of the hypothesized model, with indices such as the goodness-of-fit index, comparative fit index, root mean square error of approximation, and standardized root mean square residual being used for model evaluation. RESULTS: The hypothesized model had an adequate fit. The study findings indicated that neurocognition might indirectly influence self-defeatist beliefs through its effect on experiential negative symptoms. Contrary to expectations, the study did not observe a direct influence of neurocognition, self-defeatist beliefs, or negative symptoms on social functioning. The revised model revealed the role of experiential negative symptoms in mediating the association between neurocognition and social functioning. However, self-defeatist beliefs did not significantly affect social functioning. DISCUSSION: Before modifying negative thoughts, enhancement of self-awareness ability can help improve negative symptoms and thereby improve the performance of social functions. Future research should develop a hierarchical program of negative symptoms, from cognition rehabilitation to enhancement of self-awareness, and end with modifying maladaptive beliefs.

N-Acetylcysteine and a Specialized Preventive Intervention for Individuals at High Risk for Psychosis: A Randomized Double-Blind Multicenter Trial.

Background and Hypothesis: Clinical high risk for psychosis (CHR-P) offers a window of opportunity for early intervention and recent trials have shown promising results for the use of N-acetylcysteine (NAC) in schizophrenia. Moreover, integrated preventive psychological intervention (IPPI), applies social-cognitive remediation to aid in preventing the transition to the psychosis of CHR-P patients. Study Design: In this double-blind, randomized, controlled multicenter trial, a 2 × 2 factorial design was applied to investigate the effects of NAC compared to placebo (PLC) and IPPI compared to psychological stress management (PSM). The primary endpoint was the transition to psychosis or deterioration of CHR-P symptoms after 18 months. Study Results: While insufficient recruitment led to early trial termination, a total of 48 participants were included in the study. Patients receiving NAC showed numerically higher estimates of event-free survival probability (IPPI + NAC: 72.7 ±â€…13.4%, PSM + NAC: 72.7 ±â€…13.4%) as compared to patients receiving PLC (IPPI + PLC: 56.1 ±â€…15.3%, PSM + PLC: 39.0 ±â€…17.4%). However, a log-rank chi-square test in Kaplan-Meier analysis revealed no significant difference of survival probability for NAC vs control (point hazard ratio: 0.879, 95% CI 0.281-2.756) or IPPI vs control (point hazard ratio: 0.827, 95% CI 0.295-2.314). The number of adverse events (AE) did not differ significantly between the four groups. Conclusions: The superiority of NAC or IPPI in preventing psychosis in patients with CHR-P compared to controls could not be statistically validated in this trial. However, results indicate a consistent pattern that warrants further testing of NAC as a promising and well-tolerated intervention for CHR patients in future trials with adequate statistical power.

Path analysis of self-care amongst community-dwelling pre-ageing and older adults with chronic diseases: A salutogenic model.

With the trend towards ageing population globally, the salutogenic model can be integrated in interventions for pre-ageing and older adults to better support healthy ageing. However, there is limited research examining the salutogenic model's pathway amongst pre-ageing and older adults. Hence, this study aims to investigate pathways of the salutogenic model amongst pre-ageing and older adults with chronic diseases. Two hundred and eight pre-ageing and older adults were recruited from 11 Senior Activity Centres in Singapore. Data was collected using a self-reported questionnaire and analysed using path analyses. The indirect pathway from Subjective Cognitive Complaints to self-care abilities via sense of coherence and health practices were significant. Participants with higher sense of coherence may have increased capacities to execute more complex forms of self-care. Future interventions integrating the salutogenic model could enhance pre-ageing and older adults' self-care abilities to cope with chronic diseases and contribute to healthy ageing.

Attributional style in Borderline personality disorder is associated with self-esteem and loneliness.

BACKGROUND: Attributions are the processes by which individuals explain the causes of positive and negative events. A maladaptive attributional style has been associated with reduced self-esteem, psychosocial functioning, and mental health. Although many psychosocial interventions target an individual's attributional style in mental disorders, studies of its alterations in Borderline Personality Disorder (BPD) are sparse. This study aimed to investigate the attributional style in patients with BPD in comparison to healthy control individuals (HC) and its association with self-esteem and psychosocial functioning. METHODS: The participants (32 patients with a diagnosis of BPD, 32 HC, groups were balanced for sex, age and education) assessed their attributional style in regard to locus of control, stability and globality for positive and negative scenarios. Attributional style was compared between groups and linked to self-reports of self-esteem, loneliness and psychosocial functioning in different social domains while controlling for BPD and depressive symptom severity. RESULTS: Individuals diagnosed with BPD reported a maladaptive attributional style for both positive and negative events. This was found to be strongly related with lower self-esteem and higher levels of loneliness, but not with psychosocial dysfunctions assessed in different social domains. The severity of BPD and depressive symptoms did not fully explain the association of attributional style with self-esteem and loneliness. In contrast, correcting for acute psychopathology actually strengthened the relationship between self-esteem and maladaptive inferring causality for positive events. CONCLUSION: The differential association of attributional style for positive and negative events with self-esteem and psychosocial functioning highlights the importance of considering the different facets of inferring causality during psychosocial interventions. Our findings suggest that the significance of cognitive alterations may change with remission of acute BPD and depressive psychopathology, depending on the valence of an event.

Attention and executive functioning in children and adolescents treated for high-risk acute lymphoblastic leukemia: A report from the Children's Oncology Group (COG).

OBJECTIVES: Survivors of childhood B-acute lymphoblastic leukemia (B-ALL) are at risk for difficulties with attention and executive functioning (EF) as a late effect of treatment. The present study aimed to identify treatment and demographic factors associated with risk for difficulties with EF in youth treated for high-risk B-ALL. METHOD: Children and adolescents with B-ALL treated on Children's Oncology Group (COG) protocol AALL0232 were randomized to high-dose or escalating-dose methotrexate (MTX), and either dexamethasone or prednisone during the induction phase. Neuropsychological functioning was evaluated via protocol AALL06N1, including performance-based and parent-report measures, for 177 participants (57% female, 81% white; mean age at diagnosis = 8.4 years; SD = 5.0) 8-24 months following treatment completion. RESULTS: Mean scores for all attention and EF measures were within the average range, with no significant differences as a function of MTX delivery or steroid treatment (all p > 0.05). In multivariable models, participants with US public insurance exhibited significantly greater parent-reported EF difficulties than those with US private or non-US insurance (p ≤ 0.05). Additionally, participants diagnosed under 10 years of age performed significantly more poorly on measures of attention (i.e., continuous performance task, p ≤ 0.05) and EF (i.e., verbal fluency and tower planning task, p ≤ 0.05). CONCLUSIONS: For survivors of pediatric B-ALL, treatment-related factors were not associated with attention or EF outcomes. In contrast, outcomes varied by demographic characteristics, including age and insurance type, an indicator of economic hardship. Future research is needed to more directly assess the contribution of socioeconomic status on cognitive outcomes in survivors.

Effectiveness of Psychosocial Intervention and Psychoeducation in Improving Psychological Well-being and Cognitive Functioning in Caregivers of Substance Use Issues: A Pilot Study.

Background: Family caregivers of individuals with substance use disorder (SUD) face significant challenges that can impact their well-being, coping abilities, and cognitive functioning. However, the empowerment of these caregivers often goes unnoticed, highlighting the need for supportive interventions. Purpose: To develop and evaluate the effectiveness of a one-on-one intervention program for family caregivers of SUD patients using pre-test and post-test assessments. Methods: A pilot study was conducted using a randomized controlled trial design with 40 family caregivers of individuals with SUD. Through a lottery method, participants were randomly assigned to either the control or experimental groups, with each group consisting of 20 caregivers. The intervention program consisted of 12 one-on-one sessions. Pre-test and post-test assessments utilized the Ryff Psychological Well-being Scale, Ways of Coping, revised by Lazarus and Folkman, the Hamilton Anxiety Rating Scale, and the Kingston Caregiver Stress Scale. Descriptive and inferential statistics were analyzed using SPSS software. Results: Significant differences were observed between the control and experimental groups in psychological well-being, cognitive functioning, coping, anxiety, and stress (p < .01). The one-on-one intervention program significantly improved well-being and coping skills while reducing anxiety and stress levels. Consequently, the program empowered caregivers and enhanced their psychological resilience in the caregiving process. Conclusion: The findings support the effectiveness of the one-on-one intervention program in enhancing the well-being, coping skills, cognitive functioning, anxiety, and stress levels of family caregivers of individuals with SUD. This intervention program has the potential to empower caregivers and enable them to better cope with the challenges they face in providing care.

Examining the content validity of the Comprehensive Assessment of Functioning for Mental Illness-Subjective Version (CAMI-S) with reference to the framework of the International Classification of Functioning, Disability, and Health (ICF).

Aim: To support the achievement of life goals and social participation of persons with mental illness, based on the World Health Organization's International Classification of Functioning, Disability, and Health (ICF), we generated items, identified domains, and examined the content validity of the Comprehensive Assessment of Functioning for Mental Illness-Subjective Version (CAMI-S). The purpose was to assess patients' strengths and weaknesses by incorporating the patient and public involvement perspective. Methods: Focus group interviews on the items to be included were conducted with Group A. A draft scale was constructed by extracting articles mentioning factors for social participation and recovery for each ICF component from PubMed. Group B participants rated themselves using the draft and highlighted items they considered inappropriate. Experts then rated the importance of the items through the Delphi method. Lastly, Group C participants evaluated whether the draft scale would help in understanding their strengths and weaknesses. Results: The interviews revealed subjective experience items. The draft scale had 81 items (physical and mental functions, 10; activities, 23; participation, 24; environment, 12; individuals, six; and subjective experience, six). Through the Delphi method, the number of items was reduced to 34 in six domains. Most participants (N = 50) indicated that it helped them ascertain patients' strengths and weaknesses (mean = 2.11 ± .714). Completion time for the scale was 56 min, including the 60-item face sheet (20-110 min). Conclusion: The CAMI-S helped participants ascertain patients' strengths and weaknesses. Its reliability and validity will be verified through a large-scale survey in the future.

Applying the PRECEDE-PROCEED model to develop MommaConnect: a digital healthcare platform for addressing postpartum depression and improving infant well-being.

The PRECEDE-PROCEED model is a comprehensive planning and theoretical framework that incorporates epidemiological, environmental, behavioral, and social factors systematically to design, implement, and evaluate health promotion programs. As such, PRECEDE-PROCEED is a highly effective tool for addressing complex and significant public health concerns like postpartum depression (PPD). PPD negatively impacts mothers and their infants, with studies showing that approximately one in eight mothers experience PPD, leading to adverse effects on maternal functioning and infant development. However, access to specialized evidence-based treatment remains significantly limited due to barriers including social determinants of health. This paper explores the application of the PRECEDE-PROCEED model as a planning and theoretical framework for the design and development of MommaConnect, an innovative digital healthcare platform aimed at reducing PPD symptoms and improving maternal-infant interaction while overcoming barriers to treatment. Key components of the MommaConnect design and development process are mapped onto the steps of the PRECEDE-PROCEED model. MommaConnect features are aligned with specific stages of the model, from assessing, predisposing, enabling, and reinforcing factors to designing, implementing, and evaluating the intervention. By leveraging this model, MommaConnect represents a promising innovative approach to address PPD to improve maternal functioning and infant health in a digitally-enabled era. This paper underscores the importance of utilizing a framework like the PRECEDE-PROCEED model in the design and development of innovative healthcare solutions.

Factorial Trial to Optimize an Internet-Delivered Intervention for Sexual Health After Breast Cancer: Protocol for the WF-2202 Sexual Health and Intimacy Enhancement (SHINE) Trial.

BACKGROUND: Although most survivors of breast cancer report substantial sexual concerns following treatment, few receive support for these concerns. Delivering sexual health care to survivors of breast cancer via the internet could overcome many of the barriers to in-person treatment. Even when delivered remotely, survivor time constraints remain a leading barrier to sexual health intervention uptake. OBJECTIVE: Guided by the multiphase optimization strategy methodological framework, the primary objective of this study is to identify the most efficient internet-delivered sexual health intervention package that is expected to provide survivors of breast cancer the greatest benefit with the fewest (and least-intensive) intervention components. This study aims to determine how intervention components work (mediators) and for whom they work best (moderators). METHODS: Partnered, posttreatment adult female survivors of breast cancer (N=320) experiencing at least 1 bothersome sexual symptom (ie, pain with sex, vaginal dryness, low sexual desire, and difficulty with orgasm) related to their breast cancer treatment will be enrolled. Clinic-based recruitment will be conducted via the Wake Forest National Cancer Institute Community Oncology Research Program (NCORP) Research Base. Participants will be randomly assigned to 1 of 16 combinations of four intervention components with two levels each in this factorial trial: (1) psychoeducation about cancer-related sexual morbidity (receive either enhanced vs standard versions); (2) communication skills training for discussing concerns with health care providers (received vs not received); (3) communication skills training for discussing concerns with a partner (received vs not received); and (4) intimacy promotion skills training (received vs not received). Cores will be fully automated and implemented using a robust internet intervention platform with highly engaging elements such as animation, video, and automated email prompts. Survivors will complete web-based assessments at baseline (prerandomization time point) and again at 12 and 24 weeks later. The primary study aim will be achieved through a decision-making process based on systematically evaluating the main and interaction effects of components on sexual distress (Female Sexual Distress Scale-Desire, Arousal, Orgasm) and sexual functioning (Female Sexual Function Index) using a generalized linear model approach to ANOVA with effect coding. Mediation analyses will be conducted through a structural equation modeling approach, and moderation analyses will be conducted by extending the generalized linear model to include interaction effects. RESULTS: This protocol has been reviewed and approved by the National Cancer Institute Central Institutional Review Board. Data collection is planned to begin in March 2024 and conclude in 2027. CONCLUSIONS: By identifying the combination of the fewest and least-intensive intervention components likely to provide survivors of breast cancer the greatest sexual health benefit, this study will result in the first internet intervention that is optimized for maximum impact on the undertreated, prevalent, and distressing problem of breast cancer-related sexual morbidity. TRIAL REGISTRATION: ClinicalTrials.gov NCT06216574; https://clinicaltrials.gov/study/NCT06216574. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/57781.

Cross-domain diversity effects: linking diatom species richness, intraspecific richness, and biomass production to host-associated bacterial diversity.

Interactions between bacteria and microalgae are important for the functioning of aquatic ecosystems, yet interactions based on the biodiversity of these two taxonomic domains have been scarcely studied. Specifically, it is unclear whether a positive biodiversity-productivity relationship in phytoplankton is largely facilitated by niche partitioning among the phytoplankton organisms themselves or whether associated bacterial communities play an additional role in modifying these diversity effects. Moreover, the effects of intraspecific diversity in phytoplankton communities on bacterial community diversity have not been tested. To address these points, we factorially manipulated both species and intraspecific richness of three diatoms to test the effects of diatom species/strain diversity on biomass production and bacterial diversity in algae-bacteria communities. The results show that diatom intraspecific diversity has significant positive effects on culture biomass and the diversity of the associated free-living bacterial community (0.2-3 µm size fraction), which are comparable in magnitude to species diversity effects. However, there were little to no effects of diatom diversity on host-associated bacterial diversity (>3 µm size fraction), or of bacterial diversity on biomass production. These results suggest a decoupling of bacterial diversity from the diatom diversity-productivity relationship and provide early insights regarding the relations between diversity across domains in aquatic ecosystems.

The benefits and hazards of psychodrama in the management of mental illness: qualitative study linked to nidotherapy.

Drama therapy is a popular form of management in mental illness, as it reaches out beyond many other therapies. Few studies have examined both the advantages and disadvantages of this medium. This qualitative study examines both, and finds gains and hazards.

Family Therapy for Kosovar Mothers Who Experienced Conflict-Related Sexual Violence and Their Children in Postwar Times: A Pilot Randomised Waitlist-Controlled Trial.

Women who have experienced conflict-related sexual violence report significant long-term effects, including posttraumatic stress disorder (PTSD), depression and relationship difficulties. Research has demonstrated that maternal trauma is associated with children's behavioural difficulties and challenges in family functioning, such as impaired communication and harsh parenting. This pilot study is aimed at evaluating the preliminary effectiveness of family therapy for Kosovar mothers who experienced conflict-related sexual violence in 1998-1999 and later developed PTSD and their children in improving family functioning and reducing behavioural difficulties in postwar times. Sixty-four mothers were randomised to an intervention group or a waitlist control group. Data was collected during a screening phase, at baseline before intervention initiation, after the intervention group completed family therapy and once the waitlist control group received the intervention. Generalised linear mixed models were used to analyse group differences in family functioning and children's behaviours over time. At follow-up, mothers in the intervention group reported improved family functioning. However, mothers in the waitlist control group reported significantly fewer behavioural difficulties than mothers in the intervention group before the control group had started family therapy. There was no significant interaction between group condition and time for child-rated family functioning. Overall, this pilot study suggests that family therapy could be effective in reducing the effects of intergenerational trauma related to PTSD and conflict-related sexual violence. Future research should evaluate the long-term effects of family therapy to assess if immediate effects were maintained.

The influence of adolescents' self-perception of social relationships on personality functioning in the context of inclusive education.

Introduction: Adolescence is a special phase of life in which fundamentals of psychosocial functioning are formed. The present study investigates how adolescents' self-perception of social relationships in inclusive classes affect personality functioning. Furthermore, we examine whether the association between self-perceived social relationships and personality functioning is stronger for students with special educational needs in the domains of learning (SEN L) and social -emotional development (SED) than for students without SEN. Methods: At two measurement points questionnaire data was collected from 927 sixth- and seventh-graders from 20 primary and 20 comprehensive inclusive classes in Germany. Results: Results of longitudinal multilevel analyses show partially different results for sixth- and seventh-graders. Overall, students' perceived social relatedness predicted personality functioning. Students who perceived their social relationships more positively showed healthier personality functioning. Further, SEN SED represents a potential risk factor for personality functioning. But, we observed that differences in personality functioning between seventh-graders with SEN L or SED and those without SEN decreased over time. Furthermore, SEN does not appear to reinforce the association between low self-perception of social relationships and risky personality functioning. Discussion: The findings are discussed in the context of inclusive education and implications for future research as well as practice are given. Overall, our findings contribute to a better understanding of students' psychosocial development in inclusive learning environments.

Hashimoto encephalopathy: a literature review and case report with comprehensive neuropsychological evaluation.

Objective: Hashimoto's encephalopathy (HE), a rare immune-mediated disorder, manifests as altered mental state, cognitive and psychological dysfunction, seizures, and myoclonus. Little is known, however, about the neuropsychological profiles of individuals with HE due to the sparse amount of research. This report overviews HE, summarizes findings from available published neuropsychological evaluations, and details neuropsychological examinations of a 57-year-old White woman with a confirmed HE diagnosis evidencing persistent neuropsychological impairment at two discrete timepoints. Method: An extensive literature search was conducted on PubMed and Google Scholar for studies including neuropsychological evaluations of HE cases. Our neuropsychological evaluation included chart review, diagnostic clinical interview, performance-based neurocognitive assessment, and measures of personality and psychopathology. Results: Our assessment revealed a largely subcortical pattern of neurocognitive impairment and impactful neuropsychiatric symptoms that, together, significantly impacted the patient's quality of life and functional status. The patient's performance improved during a six-month re-evaluation within the domains of cognition, psychological functioning, and functional independence. Conclusions: This article highlights the complexity and possible long-term sequela of HE. Complex medical history (including autoimmune disorders) and psychiatric presentation at onset may be factors related to longer-term cognitive dysfunction. Neuropsychology and psychology can serve important and unique roles in assessing long-term functioning and response to treatment in such cases.

Comparing the new concept of impairment in personality functioning with borderline personality disorder: differential psychosocial and psychopathological correlates in a clinical adolescent sample.

Borderline personality disorder (BPD) is an established diagnosis in adolescence with high comorbidity and psychosocial impairment. With the introduction of the alternative model for personality disorders in DSM-5 (AMPD), personality functioning is operationalized using the Level of Personality Functioning Scale (LPFS), which has been shown to be associated with severity of personality pathology. The present study aimed at examining differential psychopathological and psychosocial correlates of LPFS and BPD. A total of 526 adolescent in- and outpatients were interviewed with the STiP-5.1 (LPFS) and the SCID-II. Mixed linear regression was used to investigate the associations between the two interviews with measures of psychopathology and psychosocial impairment. 11.4% met the diagnostic threshold of both interviews, 16.1% only of the LPFS, and 64.1% were below the diagnostic threshold in both interviews (no PD). The BPD only group was larger than expected-8.4% of patients who met criteria for BPD did not fulfill criteria for significant impairment in the LPFS. The highest burden was found in individuals concurrently showing significant impairment in LPFS and fulfilling BPD diagnosis (LPFS + BPD). Differences between the LPFS only group and the BPD only group were found in risk behavior and traumatic experiences, with higher prevalence in the BPD group. Findings confirm the high psychopathological burden and psychosocial impairment associated with both BPD and LPFS. Those exceeding the diagnostic threshold of LPFS in combination with a BPD diagnosis are characterized by greatest disability. Not all adolescents fulfilling formal BPD diagnosis showed a clinically significant impairment in LPFS, which may refer to a distinct diagnostic group.

Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome.

KAT6B and KAT6A belong to the MYST family of lysine acetyltransferases, and regulate gene expression via histone modification. Although both proteins share similar structure and epigenetic regulatory functions, it remains unclear if KAT6A/6B mutation disorders, both very rare conditions, yield the same neurocognitive presentation and thus benefit from similar treatment approaches. This study provides a preliminary overview of neuropsychological functioning of 13 individuals with KAT6B disorder (Mean age = 9.01 years, SD = 5.46), which was compared to that of a recently published sample of 15 individuals with KAT6A syndrome (Mean age = 10.32 years, SD = 4.12). Participants completed a neuropsychological test battery to assess non-verbal cognition, and caregivers completed a series of standardized rating inventories to assess daily behavioral functioning. Results reveal those with KAT6B disorders present with severe adaptive deficits (92.3%) and autism-related behaviors (83.3%), juxtaposed with relatively low concerns with externalizing behaviors (7.6%), a pattern shared by the KAT6A group. Those with KAT6B disorders present with high levels of autistic features, including reduced affiliative interest, whereas social motivation is less affected within the KAT6A group. Overall, the levels of impairment in nonverbal cognition and receptive language were comparable among those with KAT6B disorders, a trend also seen in the KAT6A group. In brief, KAT6B and KAT6A disorders yield analogous neuropsychological profiles. Findings implicate common molecular pathophysiological mechanisms for these epigenetic disorders, such that similar therapies may have shared effect across diseases.

Differential contributions of performance-based and parental reports of executive functioning on memory in pediatric focal and generalized epilepsies.

Children with epilepsy often experience deficits in both executive functioning (EF) and memory. However, how these two domains interact and relate to specific epilepsy types remains unclear. This study compared two groups of children: those with localization-related epilepsy (LRE) and those with genetic generalized epilepsy (GGE). We aimed to understand how performance-based and parent-reported EF differentially contribute to understanding memory function in each group. We examined neuropsychological measures assessing memory and EF in 75 children with LRE and 91 with GGE. Multiple linear regressions explored the impact of EF on memory performance. Performance-based EF scores accounted for greater variance in memory scores than parental EF reports. However, performance-based EF measures explained much more variance in visual memory for LRE than GGE and explained much more variance in verbal memory for the GGE group. Parental reports of EF contributed marginally to understanding variance. These findings suggest differential relationships between EF and memory based on epilepsy type. Performance-based EF measures appear more reliable at understanding memory variance than did parent reports. Our results have potential clinical implications for tailoring neuropsychological assessment and intervention for children with different epilepsy types.