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AbstractBackground: The SMARCB1 gene encodes a subunit of the BRG1-Associated Factor (BAF) complex, and mutations in this gene have been linked to Coffin-Siris Syndrome (CSS) type 3. CSS is characterized by a range of developmental disabilities, facial dysmorphic features, and feeding difficulties. There’s been noted genotype-phenotype correlation in CSS, with cases involving SMARCB1 mutations often exhibiting more severe language impairment and intellectual disability. Method: We conducted a review of reported CSS type 3 cases and presented the first instance of CSS associated with a SMARCB1 variant wherein the patient exhibited normal intelligence and only mild selective neuropsychological deficits. The patient underwent evaluation for feeding challenges, growth delay, and dysmorphic features during their second year of life. Subsequently, CSS diagnosis was confirmed due to a de novo heterozygous c.568C > T (p.Arg190Trp) variant in the SMARCB1 gene. Due to learning difficulties, the patient underwent a comprehensive neuropsychological assessment, which was related to the retrospective reconstruction of her medical and developmental history. Results: The patient demonstrated normal intelligence and adaptive functioning, with specific deficits in arithmetic and selective difficulties in verbal learning and long-term memory. Feeding difficulties and language delay observed in early childhood showed significant improvement over time. Discussion: We discuss this case in relation to previously reported CSS type 3 cases, emphasizing neuropsychological aspects. It’s evident that neuropsychological features of CSS can vary among affected individuals, highlighting the importance of personalized support and interventions tailored to specific cognitive and emotional needs by healthcare professionals. Our case suggests avenues for future research to identify specific modifiers of phenotypic expression to explain variability in intellect among patients and pinpoint potential targets for gene therapy. [ABSTRACT FROM AUTHOR]

Both self-control and executive dysfunctions have gained theoretical and empirical support in their relation to juvenile delinquency. However, the precise nature of executive dysfunctions is unclear, and recent models suggest a new conceptualization of self-control, in which executive functions play a supporting role. This research attempts to clarify the role of executive dysfunctions in juvenile delinquency and explicitly integrate executive functioning with self-control in predicting juvenile offending. About 34 boys in the juvenile justice system and 36 age- and education-matched control boys participated in this research. Computerized tasks were used to measure executive functions. Self-control and background variables were measured through a survey. No significant differences emerged from group comparisons. A logistic regression model revealed cool executive functioning to be a significant predictor of group. Hot executive functions or self-control were not predictive. Finally, executive functions were not significantly related to self-control scores. These results indicate a potential role of cool executive functioning in the explanation of juvenile delinquency, independent of self-control. [ABSTRACT FROM AUTHOR]

After acquired brain injury (ABI) many patients suffer from persistent cognitive and emotional disturbances. The aim of this study was to investigate the treatment outcome of an integrated intervention, combining neuropsychological and cognitive behavioural therapy (nCBT), against waitlist (WL) in outpatients with ABI. Individuals seeking outpatient treatment for cognitive and emotional problems after ABI were randomly allocated to nCBT (n = 27) or WL (n = 29) and completed assessments at baseline, post-treatment/WL and at six-month follow-up. The primary outcome measures were general psychopathology and functional activity in daily life. The nCBT group showed significant improvement for general psychopathology post-treatment when compared to WL. nCBT was also superior to WL regarding the secondary outcomes, i.e., the reduction of negative affect and the improvement of quality of life. No significant differences for functional activity and community integration were observed. Significant pre–post effect sizes ranged between small for functional activity and medium for quality of life. The positive effects were maintained at follow-up. The majority of patients with cognitive and emotional problems after ABI benefit from an integrated approach that offers cognitive remediation and psychotherapy. However, the heterogeneous sequelae of ABI and the moderate sample sizes in clinical trials present a methodological challenge to ABI research. [ABSTRACT FROM AUTHOR]

Introduction: Patients with obstructive sleep apnea (OSA) suffer from several neurocognitive deficits. We investigated the cognitive and socio-cognitive profiles of patients with severe OSA, controlling for potentially relevant mediating variables (i.e. age, body-mass index, cognitive reserve and depression). Moreover, we studied the neuropsychological profile of a high-risk OSA phenotype characterized by severe OSA and severe nocturnal hypoxemia. Method: We assessed 29 previously untreated severe OSA patients with a mean age of 55.6 (± 9.9 years) and a mean apnea-hypopnea index (AHI) of 53.1 (± 17.4). A control group of 34 healthy participants was also enrolled. Participants completed an extensive neuropsychological battery that included social cognition, a relatively new investigation area among OSA patients. Data analysis: Data were analyzed with a Bayesian approach. Specifically, Bayesian ANCOVA was used to investigate whether the grouping variable could predict test performance. Age, body-mass index, cognitive reserve and state of depression were added as covariates to the null model to weight the effects of these potential confounding factors. Three groups were analyzed: healthy controls (H), OSA with severe apnea and severe nocturnal oxygen desaturation (D+), and OSA with severe apnea non-desaturators (D−). Performances on the various neuropsychological tests were treated as the dependent variables. Results: The results indicate that non-verbal reasoning, the theory of mind skills, and mental shifting ability were impaired in OSA patients. Patients with severe nocturnal hypoxemia underperformed compared to patients with the same severity of apnea but non-desaturators. Additionally, we observed a trend toward a worse performance among OSA desaturator patients in the following abilities: constructional ability, short term verbal memory, phonological fluency, and the ability to inhibit automatic and dominant responses. Conclusion: The data suggest a key role of hypoxemia in affecting cognitive functioning in OSA patients. Executive functions and the concomitant involvement of social cognition are particularly affected. [ABSTRACT FROM AUTHOR]

Few studies have identified factors that may promote criminal persistence. One such influence may be acquired neuropsychological deficits, or subtle changes to brain structure or functioning stemming from detrimental experiences. Head injuries represent one source of acquired neuropsychological deficits that have been linked to increased levels of offending and are differentially concentrated within justice involved populations. Making use of the Pathways to Desistance study (1,336 individuals across 84 months), this study examines the impact of head injuries on criminal persistence. The results of multilevel longitudinal models revealed that within-individual changes in head injury were associated with increases in self-reported offending, and violent offending in particular. A less consistent pattern was observed for arrest and nonviolent offending, indicating that head injury may differentially impact specific forms of criminal persistence. These results provide preliminary evidence suggesting acquired neuropsychological deficits, and head injuries more directly, result in prolonged periods of criminal persistence. [ABSTRACT FROM AUTHOR]

Objective: The coronavirus class of respiratory viruses - including Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), which causes coronavirus disease 2019 (COVID-19) - has been associated with central nervous system (CNS) disease. In fact, multiple mechanisms of CNS involvement have been proposed, making it difficult to identify a unitary syndrome that can be the focus of clinical work and research. Neuropsychologists need to understand the potential cognitive and psychological sequelae of COVID-19 and the impact of the interventions (e.g., ICU, ventilation) that have been used in treating patients with severe forms of the illness. Method: We briefly review the literature regarding the neurological and neuropsychological effects of similar coronaviruses, the limited information that has been published to date on COVID-19, and the literature regarding the long-term cognitive and psychological effects of undergoing treatment in the intensive care unit (ICU). Results: We discuss the roles that neuropsychologists can play in assessing and treating the cognitive difficulties and psychiatric symptoms described. Conclusions: At this time, the mechanisms, correlates, and effects of COVID-19 are poorly understood, but information gleaned from the literature on similar viruses and utilized interventions should help inform neuropsychologists as they begin to work with this population. [ABSTRACT FROM AUTHOR]

The present study aimed at improving our understanding of the role of neuropsychological deficits in preschool Attention Deficit Hyperactivity Disorder (ADHD). The study included 52 children in the ADHD group and 72 controls (age 4-6 years). Both laboratory measures and teacher reports of executive deficits (i.e., working memory, inhibition, and shifting), delay-related behaviors (i.e., the preference for minimizing delay), and emotional functions (i.e., emotion recognition and regulation) were included. Variable-oriented analyses were complemented with person-oriented analyses (i.e., identifying the proportion of patients considered impaired). Results showed that the ADHD group differed from controls with regard to all measures of executive functioning and most measures of delay-related behaviors, but few differences were found for emotional functioning. A substantial subgroup (23%) of children with ADHD did not have a neuropsychological deficit in any domain. There were subgroups with executive or delay-related deficits only, but no pure emotional subgroup. The overlap between different neuropsychological deficits was much larger when teacher reports were used as opposed to laboratory measures. Regarding functional impairments, large mean differences were found between the ADHD group and controls. However, neuropsychological deficits were not able to explain individual variations in daily life functioning among children with ADHD. In conclusion, the present study identified some important methodological and theoretical issues regarding the role of neuropsychological functioning in preschool ADHD. [ABSTRACT FROM AUTHOR]

Abstract: Objective: Attention deficit/hyperactivity disorder (ADHD) is one of the most prevalent psychiatric disorders that often persist into adulthood. ADHD is associated with a high percentage of comorbid psychiatric disorders. Studies indicate that ADHD is prevalent among inmates. The aim of the present study was to evaluate the executive functions (EFs), that is, inhibition and working memory among inmates with and without ADHD after controlling for comorbidity effects. Method: Through stratified sampling method, 60 adult male inmates (30 with ADHD and 30 without ADHD) were selected on a voluntary basis and were matched for age and education. We compared the groups on measures of neuropsychological tests battery and self‐rated comorbidities. Results: Prior to controlling for the effects of comorbid disorders, the ADHD and non‐ADHD groups showed significant differences on several measures of attention; however, only the classic Stroop test interference score remained significant after controlling for the effect of the comorbid disorders. The group comparisons on the measures of memory remained unaffected from before to after controlling for the effects of the six comorbid disorders. Conclusions: Specific comorbid disorders may exacerbate the poor performance of prison inmates with ADHD on the tests of attention, but their performance on the tests of memory could remain unaffected by their comorbidity symptoms. We recommend replicating the study with ADHD participants with no criminal history. [ABSTRACT FROM AUTHOR]

A cultural analysis of a case that presented with features of Physio-Kundalini Syndrome and prominent cultural, spiritual and religious preoccupations of a short-lasting duration is discussed here. Interestingly, there were moderate neuropsychological deficits, which may throw light on the localization of such spiritual preoccupations. [ABSTRACT FROM AUTHOR]

This study examines differences between children with attention-deficit/ hyperactivity disorder combined type (ADHD-C) and normal controls on verbal and visuospatial working-memory (WM) tasks. The extent to which WM deficits in children with ADHD-C are independent of impaired inhibitory control was also examined. Two groups of 7- to 12-year-old boys participated in this study. The first group included 31 boys diagnosed with ADHD-C, and the second group included 34 boys without ADHD. Various verbal and visuospatial WM tasks and two inhibitory control tasks—prepotent response inhibition and interference control—were used. Overall, our results suggest impaired verbal and visuospatial WM processes in children with ADHD-C, as well as a lower level of performance on prepotent response inhibition. WM deficits in ADHD have previously been suggested to be particularly salient in the spatial domain; our results instead showed the largest effect for a verbal WM task thought to put heavy load on the executive or attentional control component of the WM system. An interpretation of this finding is that it is variation in terms of difficulty level or load on the executive WM processes, rather than variation in modality (verbal versus visuospatial), that is important in demonstrating WM deficits in ADHD-C. Finally, findings from logistic regression analyses showed that deficits in WM and inhibitory control seem to be semi-independent in children with ADHD-C, at least with regard to the elementary school age. [ABSTRACT FROM AUTHOR]