The Relationship Between Cognitive and Behavioral Measures of Executive Function in the Context of Elementary School

Cognitive and behavioral measures are used to assess executive functions. Previous research shows that these measures tap different underlying aspects. However, much less is known about this relationship, when assessed in the context of elementary education. The current study aims to contribute to this body of research by examining the relationship between cognitive and behavioral measures (rated by parents and teachers) of executive functioning in an elementary school context, using two study designs. In study 1, the relationship between behavioral measures (using the Behaviour Rating Inventory of Executive Function: BRIEF) and cognitive measures was examined in terms of inhibitory control, planning and organization abilities as well as processing speed using a sample of 51 children (8-10 years old). In study 2, the relationship between behavioral measures and cognitive measures of inhibitory control, cognitive flexibility, and working memory was studied in a sample of 27 children (8-10 years old). Spearman’s rho coefficients were calculated between the BRIEF and neuropsychological tasks measuring the aforementioned cognitive functions. Only processing speed appeared to be positively related to parent- and teacher- rated executive function problems: lower speed of information processing was associated with more executive function problems in daily life. No other correlation between cognitive and behavioral measures of executive functioning was statistically significant. These findings in the elementary school context confirm that cognitive and behavioral measures reflect different but complementary aspects of executive functioning. Furthermore, they suggest that behavior ratings of executive functioning might reflect general problems, such as slower speed of information processing. (AU)

No relations between executive functions and dimensional models of psychopathology or is time the missing link?

Impaired executive functions (EF) have been found within various mental disorders (e.g., attention deficit hyperactivity disorder, autism spectrum disorder, schizophrenia spectrum disorders) as described in DSM-5. However, although impaired EF has been observed within several categories of mental disorders, empirical research on direct relations between EF and broader dimension of psychopathology is still scarce. Therefore, in the current investigation we examined relations between three EF performance tasks and self-reported dimensions of psychopathology (i.e., the internalizing, externalizing, and thought disorder spectra) in a combined dataset of patients with a broad range of mental disorders (N = 440). Despite previously reported results that indicate impaired EF in several categories of mental disorders, in this study no direct relations were found between EF performance tasks and self-reported broader dimensions of psychopathology. These results indicate that relations between EF and psychopathology could be more complex and non-linear in nature. We evaluate the need for integration of EF and dimensional models of psychopathology and reflect on EF as a possible transdiagnostic factor of psychopathology.

Hypertension with hidden causes: the cognitive and behavioral profile of an adult female with chronic stress and 16p11.2 microdeletion.

This case report aims to alert physicians to neuropsychological features and chromosomal variants that may underly resistant hypertension. We present a 35-year-old female patient with hypertensive crisis (BP 260/160 mmHg), initially treated with a combination of calcium antagonists, beta blockers, diuretics and angiotensin-converting enzyme (ACE)-inhibitors, though with little improvement. Cushing's syndrome, Conn's syndrome, and glucocorticoid receptor deficiency were ruled out. Multidisciplinary examination of medical history and (hetero)anamneses including psychosocial factors revealed mild dysmorphic body features, developmental delay, early diagnosis of autism spectrum disorder, a history of being bullied at school, little peer contact, learning disabilities, and special education. Neuropsychological assessment demonstrated below average to low average intelligence quotient, cognitive impairments, and psychopathology. Parallel genetic analyses revealed a rare 16p11.2 microdeletion syndrome. These concurrent examinations explained the patient's life-long high stress levels. After psychological treatment, with additional support at home, her blood pressure lowered to normal levels and antihypertensive drugs were no longer needed.

Measuring Adaptive Behavior in Patients with Mendelian Neurodevelopmental Disorders. Comparison of ABAS-3 and Dutch Vineland Scales.

Objective: Several instruments are available for measuring (aspects of) adaptive functioning, but knowledge is lacking about which is best to use to monitor patients with etiologically homogeneous neurodevelopmental disorders. In this study we compare the use of the Vineland-Z and ABAS-3 adaptive behavior scales in such a specific group. Method: Of patients with a molecularly confirmed diagnosis of Kleefstra syndrome, 34 were assessed with both the Vineland-Z and ABAS-3 of which 12 (35,3%) males and 22 (64,7%) females. Raw scores and developmental ages were calculated and a comparison between the instruments was done via correlation analysis. Results: Biological age ranged from 12 to 50 years old (median age of 23,1 ± 9,6 years). Pearson r correlation analyses show that the Vineland-Z and ABAS-3 assessments are highly interchangeable in this population. However, there are practical issues which require attention: (i) the use of ABAS-3 needs several versions to cover the whole adaptive spectrum, and (ii) the Vineland-Z discriminates more at the lower end of the adaptive functioning spectrum compared to the ABAS-3, but less at the higher end. An ideal instrument for this specific purpose is not yet available. Conclusions: We recommend that either the Vineland-Z, with modification of the dated items, the abridged version of the Vineland III, or a merge of the 0-4/517 ABAS-3 versions would work best to assess the entire spectrum of adaptive functioning adequately.

A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.

Objective: The chromosome region 22q11.2 is highly susceptible to genomic rearrangements. It has become clear that genomic instability extends distally to the commonly deleted/duplicated region (Low Copy Repeats [LCR] A-D) and that a clear difference exists between the phenotypic presentation of patients with rearrangements in the common region versus that in the distal region (LCR D-H), particularly with respect to developmental and somatic issues. Microdeletions in the 22q11.2 distal region are typically associated with congenital heart defects whereas distal 22q11.2 microduplications are infrequently described and present with a smaller duplicated region and a rather unspecified phenotype. Method: The present paper provides detailed assessments of a middle-aged male with mild intellectual disability, elsewhere diagnosed with autism spectrum disorder. Because of persisting functional complaints, he was referred for second opinion to a specialized outpatient department. Results: High resolution SNP-based array analysis demonstrated a ~1.5 Mb distal microduplication in chromosome 22 flanked by LCR region 22C and LCR22E encompassing among others the disease gene MAPK1. No remarkable facial dysmorphisms were noticed. Autism spectrum disorder was ruled out and it was concluded that the patient was primarily suffering from mild intellectual disability and social cognitive dysfunctions with anxieties and suspicious social interactions, to be understood as a disorder within the anxiety spectrum. Conclusions: The pattern of psychological and psychiatric phenomena was discussed against the background of findings on psychopathology in the chromosome 22 region demarcated by LCR breakpoints C and E. It was suggested that alterations in the MAPK1 gene due to either a deletion or a duplication enhance the vulnerability to develop a psychiatric disorder within the anxiety spectrum.

Impaired Executive Functioning Associated with Alcohol-Related Neurocognitive Disorder including Korsakoff's Syndrome.

(1) Background: chronic alcohol use is consistently associated with impaired executive functioning, but its profile across the spectrum from mild to major alcohol-related cognitive impairment is, to date, unclear. This study aims to compare executive performances of patients with alcohol-induced neurocognitive disorder, including Korsakoff's syndrome (KS), by using a computerized assessment battery allowing a fine-grained and precise neuropsychological assessment; (2) Methods: performances of 22 patients with alcohol-related cognitive impairment (ARCI) and 20 patients with KS were compared to those of 22 matched non-alcoholic controls. All participants were diagnosed in accordance with DSM-5-TR criteria and were at least six weeks abstinent from alcohol prior to assessment. Executive function was evaluated using four subtests of Cambridge Neuropsychological Test Automated Battery (CANTAB®); (3) Results: significant differences between groups were found on spatial working memory (updating), sustained attention and inhibitory control, set shifting, and planning. Healthy controls performed significantly better than both patient groups (Games-Howell post hoc; p < 0.05), but no differences in performance were found between the ARCI and KS group; (4) Conclusions: ARCI and KS patients showed significant executive impairments, most prominent in updating, set-shifting and general planning abilities. Findings suggest equivalent levels of executive function in ARCI and KS patients. Our results highlight executive function as a significant hallmark of alcohol-induced neurocognitive disorder and stipulate the importance of early assessment and evaluation of skills to guide treatment.

Neurocognitive Recovery in Abstinent Patients with Alcohol Use Disorder: A Scoping Review for Associated Factors.

Objective: Studies have reported inconsistent results regarding the extent to which neurocognitive recovery occurs in abstinent patients with alcohol use disorder (AUD). In addition to abstinence, other factors may have influenced this process and contributed to the inconsistencies. This review examines the factors investigated in this regard and describes the possible influence of each factor based on the evidence collected. Methodology: PubMed was systematically searched for articles published between January 2000 and July 2023. Longitudinal humane studies investigating neurocognitive recovery in abstinent adult AUD patients were included. Studies with a cross-sectional design were excluded, as were studies that did not classify AUD according to the DSM-IV or 5 criteria, only examined binge use, did not report neuropsychological outcomes or duration of abstinence, or where neurological disorders were present. Results: Sixteen categories of factors were distinguished from 31 full-text articles. Consistent patterns were found, indicating an association between neurocognitive recovery and the "smoking" and 'brain volume" factors. Consistent patterns were also found indicating that there is no relationship with "quantities of alcohol used" and "education level." A similar consistent pattern was also found for "polysubstance use", "gender" and "verbal reading", but the number of studies is considered limited. The association with "age" is studied frequently but with inconsistent findings. The remaining eight factors were regarded as understudied. Conclusion: The clearest patterns emerging from the evidence are a predominantly negative influence of smoking on neurocognitive recovery, associations between changes in brain area volume and neurocognitive recovery, and no association between neurocognitive recovery and the amount of alcohol consumed, as measured by self-report, nor with educational attainment. Future research on the understudied factors and factors with inconsistent evidence is needed, preferably through longitudinal designs with multiple assessment periods starting after at least two weeks of abstinence.

Forensically relevant challenging behaviors and the genetics domain.

Impulsive and aggressive behaviors along with intellectual disabilities often manifest in the context of genetic disorders and are a persisting challenge to professionals in the forensic psychiatric and psychological setting. The following chapter comprises an overview of relevant factors in the gene-context-behavior interaction such as monoamine oxidase A activity and specific epileptic phenomena. It presents several examples of monogenetic disorders with behaviors from the aggression spectrum and summarizes emerging strategies for treatment and clinical management thereof. The final part focuses on challenges and future developments in this field with relevance for the judicial and forensic systems. It is concluded that the relationship between a genetic syndrome and forensically relevant and/or violent behaviors should typically be addressed within a multidisciplinary framework that also includes the application of modern genetic techniques.

A time-series perspective on executive functioning: The benefits of a dynamic approach to random number generation.

OBJECTIVES: Executive functioning (EF) is a key topic in neuropsychology. A multitude of underlying processes and constructs have been suggested to explain EF, which are measured by at least as many different neuropsychological tests. However, these tests often refer to summary statistics to quantify the construct under study, failing to capture the dynamic nature of EF. An alternative to these summary statistics is a time-series approach that quantifies all the available temporal information. METHODS: We used recurrence quantification analysis (RQA) to quantify the characteristics of any temporal pattern in random number generation data and we compared RQA to the traditional and static analysis of random number sequences. RESULTS: The traditional measures yield inconsistent results with increasing sequences length, both for computer-generated and human-generated sequences, whereas the RQA measures do not. CONCLUSION: The results suggest that a time-series approach does a better job at modelling what is happening on different time-scales, and, therefore, is better at explaining how EF is changing in the course of the random number generation task. We argue that it is likely that these findings also apply to other neuropsychological EF tests, and that a time-series approach is an important addition to the study of EF.

Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient.

Introduction: Diagnostic exome sequencing has yielded over the past decades a great number of molecular diagnoses for genetic disorders in which both intellectual disability and epilepsy are present. One of these syndromes is myoclonic-atonic epilepsy (MAE) that is caused by pathogenic variants in the SLC6A1 gene located at 3p25.3. The most relevant clinical characteristics are intellectual disability, several forms of mostly treatment-resistant epilepsy starting at young age, serious disinhibitory behavioural problems, language impairment, higher pain tolerance, and symptoms from the autism spectrum, all in the absence of any consistent dysmorphism or malformation. Methods: After an overview of the literature, here, the developmental trajectory of a 55-year-old severely intellectually disabled male with therapy-resistant epilepsy and aggressive outburst is reported in detail, in whom no etiological diagnosis had been performed. Next to genetic, neurological, and neuropsychiatric examination, psychological assessment with validated instruments was performed. Results: Exome sequencing and targeted analysis of the patient and both his parents demonstrated a de novo missense variant in the SLC6A1 gene which was never before described in the literature nor in control databases. The phenotypical presentation of the patient with treatment-resistant epilepsy, especially absences and myoclonic seizures, as well as sleep disturbances and autism, corresponds with a diagnosis of MAE. Discussion: This case stresses that exome sequencing should be the first-tier diagnostic test for patients with unexplained neurodevelopmental disorders, regardless of their age, and that as yet the most suitable approach is the formation of an interdisciplinary team for treatment design and clinical management.

The structure of dimensions of psychopathology in normative and clinical samples: Applying causal discovery to MMPI-2-RF scales to investigate clustering of psychopathology spectra and p-factors.

We applied a Bayesian Constraint-based Causal Discovery method (BCCD) to examine the hierarchical structure of the Minnesota Multiphasic Personality Inventory-2-Restructured Form (MMPI-2-RF) Restructured Clinical (RC) scales. Two different general psychopathology super spectra (p-factor) scales were extracted from (1) all RC scales and (2) all RC scales except the RCd (Demoralization) scale. These p-factor scales were included in separate models to investigate the structure of dimensions of psychopathology in a normative (n = 3,242) and clinical (n = 2,466) sample, as well as the combined normative/clinical sample (N = 5,708), by applying the BCCD algorithm to obtain a data-driven reconstruction of the internal hierarchical structure of the MMPI-2-RF. Research on the underlying structure of the MMPI-2-RF has clinical relevance as well as conceptual relevance in the context of the HiTOP model. Results demonstrated that the syndromes measured with the RC-scales-in presence of a p-factor-cluster into six spectra: internalizing, disinhibited-externalizing, antagonistic-externalizing, thought disorder, detachment, and somatoform. These results may support a super spectrum construct, as it was necessary for obtaining a bottom-up reconstruction of this six-spectrum structure. We found support for superiority of a broad super spectrum with additional variance over and above demoralization, as it resulted in the clearest structure (i.e., clustering of the RC scales). Furthermore, our results indicate independent support for the bifactor structure model of psychopathology.

An Exploratory Study of MMPI-2-RF Personality and Psychopathology Profiles of Adults with Autism Spectrum Disorder without Intellectual Disability.

Objective: More empirical research is needed to disentangle the phenotypes of autism spectrum disorder (ASD) and cluster C personality symptomatology (CCPD), as both show similarities in their clinical presentation. We explored personality and psychopathology dimensions as conceptualized in contemporary dimensional taxonomies (i.e., hierarchical taxonomy of psychopathology; HiTOP) in adults with ASD without intellectual disability operationalized by the Minnesota Multiphasic Personality Inventory-2-Restructured Form (MMPI-2-RF). Method: Applying secondary analytic processes using clinical data, we cross-examined the MMPI-2-RF profiles of adults with ASD (n = 28) compared to adults with Cluster C personality disorders (CCPD; n = 28) and a control group (n = 28) by conducting nonparametric tests and assessing effect sizes. Results: The profiles of the ASD and CCPD groups evidenced to be similar, and both average clinical profiles diverged from the average control group profiles by elevated levels of demoralization, internalizing, and somatization symptomatology. There were small differences between the average profiles of adults with ASD and adults with CCPD. Additional research using dimensional measures of psychopathology could elucidate the dimensional phenotypes of ASD and CCPD. Conclusions: Based on the results in this study, the MMPI-2-RF may not meaningfully discriminate between the two clinical presentations, with the exception of various externalizing scales.

Assessing Psychological Inflexibility Pertaining to Self in Patients With Posttraumatic Stress Disorder Using an Indirect Measure of (Nonassociative) Propositions.

Relational frame theory (RFT) is a modern behavioral account of human language and cognition, which focuses on relations or propositions, rather than associations, as core explanatory constructs. In an attempt to measure such propositions, RFT researchers have developed the implicit relational assessment procedure (IRAP). It has been argued that the size of an IRAP effect may provide a metric for psychological inflexibility. The current study aimed to determine whether psychological inflexibility, as measured by the self-focused Natural Language-IRAP (NL-IRAP), would be higher in a clinical sample of individuals with a diagnosis of PTSD (N = 29) when compared to a nonclinical sample. Subsequently, the study investigated whether the self-focused NL-IRAP could be used to predict the presence of a clinical diagnosis, using a ROC analysis. As predicted, higher levels of psychological inflexibility were observed for the clinical group. The self-focused NL-IRAP also correctly classified the presence of PTSD (AUC = 76%) with a sensitivity level of 79.3% and a specificity level of 59.2%. Overall, the use of the IRAP as a nonassociative clinical measure appears promising.

Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants.

Cognitive difficulties are argued to be common in patients with Noonan syndrome spectrum disorders (NSSDs), but findings are based on studies in which patients with variants in PTPN11 (prevalence ~50%) were overrepresented. The current study, using a structured clinical approach, describes the cognitive phenotype and psychopathology of 100 patients (aged 6 to 61 years) with nine different gene variants in the Ras/MAPK pathway underlying NSSDs (PTPN11n = 61, PTPN11 Noonan syndrome with multiple lentigines n = 3, SOS1n = 14, KRASn = 7, LZTR1n = 5, RAF1n = 4, SHOC2n = 2, CBLn = 2, SOS2n = 2). After weighted assessment and bootstrapping of the results of individual neuropsychological assessments and measures of psychopathology, cognitive performances in most variant groups were within the ranges of expectation. IQs were significantly lower in patients with variants in PTPN11, KRAS, RAF1, and SHOC2, but no specific cognitive impairments were found. The performances of younger participants (<16 years of age) did not differ from those of adults. Alexithymia and internalizing problems were more frequent in patients with variants in PTPN11 and SOS1, while PTPN11 patients also showed higher levels of externalizing problems. These results stress the need to take intelligence into account when interpreting lower cognitive performances in individual neuropsychological assessments, which is crucial for an adequate understanding and guidance of patients with NSSDs.

Family Matters: Trauma and Quality of Life in Family Members of Individuals With Prader-Willi Syndrome.

Background: Prader-Willi syndrome (PWS) is a potentially life threatening, genetic developmental disorder that requires lifelong medical treatment and behavioral management. PWS has a major impact on the patient's social environment. In this study, we have explored traumatic life events and symptoms of posttraumatic stress disorder (PTSD) in family members of individuals with PWS. We have also assessed quality of life in relation to trauma manifestations. In addition, we have evaluated demographic characteristics such as living setting of PWS patients as well as PWS symptom severity. Methods: Data of this observational study were obtained by means of the Life Events Checklist DMS-5, the Posttraumatic Stress Disorder Checklist DSM-5, the abbreviated World Health Organization Quality of Life questionnaire, the Lancashire Quality of Life Profile questionnaire, and a short demographic inventory. The study sample includes 98 adults aged 19 to 80 years (M = 49, SD = 15), who are relatives of 69 individuals with PWS aged 0 to 58 years (M = 19, SD = 13). Participants were recruited via the two Dutch patient associations PWS and the Dutch Digital Center of Expertise PWS. Results: Life time prevalence of traumatic events (93%) was higher in family members of PWS patients ("PWS relatives") than in the general Dutch population (81%). Of those who reported any traumatic event, almost half reported PWS-related events. The prevalence of probable PTSD was higher in PWS relatives (12.1%) than the general lifetime prevalence of PTSD (worldwide, and in the Netherlands 7.4%). Predominant trauma symptoms in PWS relatives were "negative changes in arousal and reactivity" and "negative changes in cognition and mood;" both significantly negatively related to quality of life. Symptom severity of PWS individuals, as well as the associated trauma symptom severity of their relatives increased with age of the PWS individual. The presence of trauma symptoms was less frequent among relatives of PWS individuals living in a care facility. Conclusions: Having a relative with PWS is associated with higher prevalence of traumatic experiences and greater vulnerability to PTSD. Raising awareness in health care professionals of trauma symptoms in PWS relatives may contribute to effective treatment of their psychosocial stress. In addition, timely interventions might prevent family members from developing psychopathology like PTSD.

A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype.

Klinefelter syndrome is a chromosomal disorder in which one extra X chromosome is present (47,XXY). Several other numeric variants of this syndrome are described that comprise one or more additional sex chromosomes such as 48,XXXY, 48,XXYY and 49,XXXXY. These rare conditions are often associated with increased risk for congenital malformations, additional medical problems, and a more complex psychological phenotype. Since 1963, apart from two infants, only four adult patients with a XXXYY pentasomy have been published as case report. The present paper critically reviews the existing literature and provides detailed assessments of a 25-year-old male with intellectual disability and autism. For the first time, this very rare pentasomy is now recorded using all information about developmental history as well as findings from genetic, somatic, endocrinological and neuropsychological examination. It is concluded that children born with abnormalities of the external genitalia should always be evaluated for genetic abnormalities in order to avoid unwanted delay of appropriately designed multidisciplinary medical and psychological treatment.

Social cognitive performance in posttraumatic stress disorder: A meta-analysis.

BACKGROUND: Social support represents a key factor in the development of post-traumatic stress disorder (PTSD). Social cognition - the ability to perceive, interpret, and respond to other people - is considered fundamental in making use of social support. Gaining knowledge on the link between PTSD and social cognition is therefore essential. Whilst social cognitive difficulties in patients with PTSD are documented, an understanding of which particular social cognitive processes might be affected more than others, is lacking. The current meta-analysis was therefore aimed to examine social cognitive functioning in four underlying social cognitive domains (mentalization, emotion recognition, social perception, and attributional style) in PTSD diagnosed patients versus controls. METHODS: Meta-analyzes were conducted on studies examining performance on at least one social cognitive domain in PTSD diagnosed patients compared to controls. RESULTS: 19 studies were included, involving 565 patients and 641 controls. Relative to controls, the PTSD group scored lower on overall social cognitive functioning (SMD = -0.42), specifically on mentalization (SMD = -0.81) and social perception (SMD = -0.30), whilst the latter should be interpreted with caution as only one study was found pertaining to this domain. No emotion recognition and attributional style differences were found. LIMITATIONS: There was evidence of moderate heterogeneity in the results of the included studies for overall social cognition and attributional style. CONCLUSIONS: Findings indicate that social cognition represents a potential important clinical factor in PTSD and underscore the importance of differentiating between underlying social cognitive processes in research and treatment of PTSD.

Reviewing the availability, efficacy and clinical utility of Telepsychology in dialectical behavior therapy (Tele-DBT).

BACKGROUND: Telepsychology is increasingly being implemented in mental health care. We conducted a scoping review on the best available research evidence regarding availability, efficacy and clinical utility of telepsychology in DBT. The review was performed using PRISMA-ScR guidelines. Our aim was to help DBT-therapists make empirically supported decisions about the use of telepsychology during and after the current pandemic and to anticipate the changing digital needs of patients and clinicians. METHODS: A search was conducted in PubMed, Embase, PsycARTICLES and Web of Science. Search terms for telepsychology were included and combined with search terms that relate to DBT. RESULTS: Our search and selection procedures resulted in 41 articles containing information on phone consultation, smartphone applications, internet delivered skills training, videoconferencing, virtual reality and computer- or video-assisted interventions in DBT. CONCLUSIONS: The majority of research about telepsychology in DBT has focused on the treatment mode of between-session contact. However, more trials using sophisticated empirical methodologies are needed. Quantitative data on the efficacy and utility of online and blended alternatives to standard (i.e. face-to-face) individual therapy, skills training and therapist consultation team were scarce. The studies that we found were designed to evaluate feasibility and usability. A permanent shift to videoconferencing or online training is therefore not warranted as long as face-to-face is an option. In all, there is an urgent need to compare standard DBT to online or blended DBT. Smartphone apps and virtual reality (VR) are experienced as an acceptable facilitator in access and implantation of DBT skills. In addition, we have to move forward on telepsychology applications by consulting our patients, younger peers and experts in adjacent fields if we want DBT to remain effective and relevant in the digital age.