Neuropsychological functioning of adults with PTEN hamartoma tumor syndrome.

PTEN hamartoma tumor syndrome (PHTS) might be associated with a distinct cognitive and psychological profile. However, previous studies are limited, predominantly based on small and pediatric cohorts, likely affected by selection bias, and show a broad range of findings. We aimed to characterize the neuropsychological functioning of adults with PHTS. A total of 40 participants, with intellectual disability as exclusion criterium, completed an extensive clinical neuropsychological assessment including cognitive tasks, questionnaires, and a clinical diagnostic interview. The cognitive tasks and questionnaire data were categorized as below and above average based on 1.5 SD. About 80% of participants showed an average level of intelligence. In addition, 30% and 24% of participants scored below average on immediate memory recall and speed of information processing, respectively. Furthermore, about 25% reported above average scores on the majority of the questionnaires, indicating psychological distress, signs of alexithymia, and cognitive complaints. Personality of participants was characterized by inflexibility, social withdrawal, and difficulties in recognizing and describing their own emotions. Adults with PHTS demonstrate a heterogeneous yet distinct neuropsychological profile that is characterized by slower information processing, psychological problems, and specific personality traits. These findings provide directions on how to optimize the care and daily lives of adults with PHTS.

Robustness of the Maladaptive Personality Plaster: An Investigation of Stability of the PSY-5-r in Adults over 20 Years.

The long-term stability of maladaptive personality traits in the general population has been under-investigated. The current study examined the longitudinal 20-year mean-level stability and rank-order consistency of five maladaptive personality traits-as measured with the Personality Psychopathology-5-r scales. Correlations and regression analysis were conducted to test both types of stability comparing raw scores of scale administrations in a general population sample in both 1992 and 2012 (N = 65). Repeated measures analysis of variance demonstrated significant mean-level stability of the PSY-5-r traits over 20 years. The PSY-5-r scales demonstrated significant rank-order consistency as evidenced by correlational analyses and reliability coefficients. The scales Aggressiveness-r (r = .73), Neuroticism/Negative Emotionality-r (r = .65), Introversion/Low Positive Emotionality-r (r = .63), and Disconstraint-r (r = .56), evidenced strong rank-order stability, whereas Psychoticism-r (r = .3) showed moderate rank-order consistency. The results of the present study indicate that maladaptive personality traits as measured with the PSY-5-r scales are relatively stable over 20 years in an adult community population.

Behavior and cognitive functioning in Witteveen-Kolk syndrome.

Witteveen-Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch-insensitive 3 transcription regulator family member A (SIN3A). Regarding behavioral functioning, Autism Spectrum Disorders (ASD), obsessive-compulsive behaviors, as well as Attention-Deficit/Hyperactivity Disorder symptoms (ADHD) have been suggested. The present study explores various aspects of neurocognitive functioning in five individuals (age range 10-23) with WITKOS. Medical records and results of extensive neuropsychological assessment are used to describe developmental trajectories and neurocognitive profiles. Systematic analysis of medical records displays developmental difficulties described as ASD or ADHD in childhood, sleep problems and internalizing problems during adolescence. Results of cognitive assessments indicate profoundly disabled (n = 1), mildly disabled (n = 2), borderline (n = 1), and average (n = 1) levels of intelligence. Furthermore, results indicate weaknesses in speed of information processing/sustained attention in all participants, and difficulties in planning and maintaining overview in three participants. Furthermore, parent reports of behavioral functioning primarily suggest problems in social functioning. Implications of both cognitive problems and social-emotional vulnerabilities for counseling are discussed and supplemented with suggestions for interventions.

Personality and Psychopathology in Adults with Noonan Syndrome.

This is the first controlled study regarding personality and psychopathology in adults with Noonan syndrome (NS). Anxiety, depression, alexithymia and symptoms of Attention Deficit-Hyperactivity Disorder and Autism Spectrum Disorder, have been previously described in NS. More information regarding personality and psychopathology in NS could improve mental health care for this population. Therefore, scores on the Minnesota Multiphasic Personality Inventory-2-Restructured Form (MMPI-2-RF), a widely used self-report questionnaire of personality and psychopathology, were compared between patients with NS (n = 18) and matched, healthy controls (n = 18). Furthermore, correlations between MMPI-2-RF scores and alexithymia, measured by the Toronto Alexithymia Scale-20, were investigated. Patients with NS showed significantly higher scores, with medium effect sizes, on MMPI-2-RF scales reflecting infrequent responses (F-r), somatic and cognitive complaints (FBS-r and RBS-r), internalizing problems (EID), demoralization (RCd) and introversion (INTR-r), although the overall profile in both groups was within the non-clinical range. Alexithymia correlated with internalizing problems and negative emotionality in the patient group. In conclusion, patients with NS showed higher levels of introversion, which may predispose them to internalizing problems. These problems were indeed more frequent in patients with NS, especially higher levels of demoralization. Patients may benefit from psychological interventions aimed to decrease internalizing problems, introversion and alexithymia.

The effect of errorless learning on psychotic and affective symptoms, as well as aggression and apathy in patients with Korsakoff's syndrome in long-term care facilities.

ABSTRACTObjectives:Errorless learning is a promising rehabilitation principle for learning tasks in patients with amnesia, including patients with Korsakoff's syndrome. Errorless learning might possibly also contribute to decreases in behavioral and psychiatric problems, as patients in long-term care facilities become more independent after training. The aim of this study was to examine the effects of errorless learning on potential changes in psychotic and affective symptoms, aggression and apathy, in contrast with a control group who received care as usual. METHODS: The current study is a quasi-experimental study on errorless learning and psychotic and affective symptoms, aggression, and apathy in patients with Korsakoff's syndrome, living in long-term care facilities for patients with Korsakoff's syndrome (KS) in the Netherlands. The GIP-28, HoNOS-ABI, and NVCL-20 were administered to a group of patients with KS who received errorless learning training (n = 51) and a patient control group who received care as usual (n = 31). Wilcoxon Signed-Rank Tests were performed to examine psychotic and affective symptoms, aggression, and apathy at baseline and at follow-up in the errorless learning group and the control group. RESULTS: Errorless learning training effectively reduced psychotic symptoms (including provoked confabulations), affective symptoms, and agitation/aggression. There were no significant changes (increases nor decreases) in the control group. Levels of apathy were stable over time in both groups. CONCLUSIONS: Results with respect to psychotic and affective symptoms, aggression, and apathy are discussed in depth. Patients with KS can become more autonomous in a cared for setting using errorless learning principles. This might also result in decreases in behavioral and psychiatric problems in patients.

Errorless (re)learning of everyday activities in patients with Korsakoff's syndrome: A feasibility study.

Errorless learning has proven to be an effective method for (re)learning tasks in several patient groups with amnesia. However, so far only a handful of studies have examined the effects of errorless learning in patients with Korsakoff's syndrome. The aims of this feasibility study were to (a) examine the effects of errorless learning training on (re)learning tasks in a patient with Korsakoff's syndrome, (b) examine the effects of the nature of the training on the execution of the tasks, and (c) examine characteristics that may mediate learning outcome. Professional caregivers, who were trained in errorless learning principles, taught 51 patients with Korsakoff's syndrome two everyday tasks. Significant improvements in the performance were found after an errorless intervention for different types of trained tasks (activities of daily living, chores, mobility, housekeeping). Moreover, the results of this study suggest that all patients, despite of age, educational level, or level of cognitive functioning, may benefit from errorless learning. The results showed that, despite severe amnesia, patients with Korsakoff's syndrome have the potential to (re)learn everyday skills. Errorless learning might be beneficial for memory rehabilitation in patients with Korsakoff's syndrome in clinical practice. The results of this study are clinically relevant, as successfully learning tasks using errorless learning principles might improve autonomy and independence in the daily lives of patients with Korsakoff's syndrome.

Modification of Automatic Alcohol-Approach Tendencies in Alcohol-Dependent Patients with Mild or Major Neurocognitive Disorder.

BACKGROUND: To examine the applicability of an alcohol-avoidance training procedure in patients with alcohol dependence and alcohol-induced neurocognitive disorders (NDs), we trained 2 groups that differed in the degree of cognitive impairment: One group fulfilled the DSM-5 criteria for alcohol-induced mild ND, and 1 group was diagnosed with Korsakoff's syndrome (KS) (alcohol-induced major ND, confabulatory/amnesic subtype; DSM-5). The intervention is assumed to match the preserved cognitive capacity for implicit learning in both groups. METHODS: Fifty-one inpatients with a mild ND and 54 inpatients with KS were trained. Six training sessions (including pre- and posttests) of a computerized implicit alcohol approach-avoidance task were applied. Neurocognitive variables were available from the standard assessment procedure of the clinic. RESULTS: Training of alcohol-avoidance tendencies is feasible in a population with alcohol-related NDs. The alcohol-approach bias decreased for both groups in each session. Better learning results over time were obtained in participants with a larger baseline alcohol-approach tendency. Learning effects were positively related to age and implicit (nondeclarative) memory functioning. No relation between training effects and executive or explicit memory functions was found. CONCLUSIONS: Training of an alcohol-avoidance tendency can be successfully applied in patients with alcohol dependence including those with alcohol-induced NDs.

Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.

Detailed neurobehavioural profiles are of major value for specific clinical management, but have remained underexposed in the population with intellectual disabilities (ID). This was traditionally classified based on IQ level only. Rapid advances in genetics enable etiology based stratification in the majority of patients, which reduces clinical heterogeneity. This paper illustrates that specific profiles can be obtained for rare syndromes with ID. Our main aim was to study (mal)adaptive functioning in Kleefstra Syndrome (KS) by comparing and contrasting our findings to three other subgroups: Koolen-de Vries Syndrome, GATAD2B-related syndrome, and a mixed control group of individuals with ID. In total, we studied 58 individuals (28 males, 30 females) with ID; 24 were diagnosed with KS, 13 with Koolen-de Vries Syndrome, 6 with the GATAD2B-related syndrome, and 15 individuals with undefined neurodevelopmental disorders. All individuals were examined with a Vineland Adaptive Behavior Scale, mini PAS-ADD interview, and an Autism Diagnostic Observation Schedule to obtain measures of adaptive and maladaptive functioning. Each of the three distinctive genetic disorders showed its own specific profile of adaptive and maladaptive functioning, while being contrasted mutually. However, when data of the subgroups altogether are contrasted to the data of KS, such differences could not be demonstrated. Based on our findings, specific management recommendations were discussed for each of the three syndromes. It is strongly suggested to consider the genetic origin in individuals with congenital neurodevelopmental disorders for individual based psychiatric and behavioral management.

Fluid intelligence and executive functioning more alike than different?

OBJECTIVE: Fluid intelligence (Gf) has been related to executive functioning (EF) in previous studies, and it is also known to be correlated with crystallized intelligence (Gc). The present study includes representative measures of Gf, Gc, and EF frequently used in clinical practice to examine this Gf-EF relation. It is hypothesised that the Gf-EF relation is higher than the Gc-EF relation, and that working memory in particular (as a measure of EF) shows a high contribution to this relation. METHOD: Confirmatory factor analysis was performed on a mixed neuropsychiatric and non-clinical sample consisting of 188 participants, using the Kaufman Adolescent and Adult Intelligence Test, and three executive tasks of the Cambridge Neuropsychological Test Automated Battery, covering working memory, planning skills, and set shifting. RESULTS: The model fitted the data well [χ²(24)=35.25, p=0.07, RMSEA=0.050]. A very high correlation between Gf and EF was found (0.91), with working memory being the most profound indicator. A moderate to high correlation between Gc and EF was present. Current results are consistent with findings of a strong relation between Gf and working memory. CONCLUSION: Gf and EF are highly correlated. Gf dysfunction in neuropsychiatric patients warrants further EF examination and vice versa. It is discussed that results confirm the need to distinguish between specific versus general fluid/executive functioning, the latter being more involved when task complexity and novelty increase. This distinction can provide a more refined differential diagnosis and improve neuropsychiatric treatment indication.

Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values < 0.001), whereas women with NS had more trouble recognizing angry facial expressions in comparison with controls (P = 0.01). No significant group differences were found for the frequency of social assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans.