Search

Contains fulltext : 306295.pdf (Publisher’s version ) (Open Access), 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., 15 mei 2024, 11 p.

Contains fulltext : 299358.pdf (Publisher’s version ) (Open Access), 9 p.

Contains fulltext : 281795.pdf (Publisher’s version ) (Open Access)

Contains fulltext : 221392.pdf (publisher's version ) (Open Access), 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.

Radboud University, 17 december 2020, Promotor : Egger, J.I.M. Co-promotores : Kleefstra, T., Wingbermühle, P.A.M., Contains fulltext : 227290.pdf (publisher's version ) (Open Access)

Item does not contain fulltext, Major advances have been made in the identification of genetic neurodevelopmental disorders and psychological (dis)functioning among persons with intellectual disabilities. This chapter first provides an overview of developments on the topic. Thereafter, our preference to study "dual diagnosis" from a neuropsychological perspective is described, building upon the increasing opportunities in genetic testing and beyond classificatory diagnosis of psychiatric conditions (e.g., DSM, ICD) in genetic neurodevelopmental disorders. This implies a multimethod assessment of cognitive functioning and understanding behavior from a contextual perspective, across the life span. Applying this neuropsychological clinical research strategy provides opportunities for developing and implementing (multidisciplinary) treatment strategies, as is shown in the syndrome descriptions in Chap. 4. Common conditions such as Fragile X syndrome and Noonan syndrome are reviewed as well as several rare genetic syndromes (e.g., Kleefstra syndrome, KBG syndrome, and Phelan-McDermid syndrome) with typically co-occurring mental health disorders and/or challenging behaviors. Special attention is paid to Prader-Willi syndrome, because it typically illustrates the complex interplay of the syndrome-bound phenomena and the great benefits of interdisciplinary study thereof. Resulting clinical strategies that may emerge from the advocated genetic neuropsychological paradigm are shortly addressed, including future vistas on this dynamic and rapidly developing field.

Contains fulltext : 203341.pdf (publisher's version ) (Open Access), Background: Kabuki syndrome (KS) is a Mendelian disorder, characterised by short stature, facial dysmorphisms and developmental delay and/or intellectual disability. Clarification of the neurocognitive profile in KS may provide directions for education and treatment interventions for KS. Previous studies on cognitive functioning in KS are scarce and have mainly focused on the general level of intelligence. The few more extensive studies suggested weaknesses in language skills, visuoconstruction, perceptual reasoning and speed of information processing. Other relevant domains such as memory, executive functioning and social cognition have not been studied yet. Method: This is the first study in which cognitive functioning within multiple domains is systematically explored in 29 participants with KS (age range: 5-48 years) and compared to both norm groups (healthy population) and an appropriate control group of 15 individuals with other genetic syndromes (age range: 6-28 years). Results: Compared to the norm groups of the cognitive test manuals, as expected, participants with KS show a weaker performance on all cognitive tests. Comparison with the more appropriate genetic control group indicates weaknesses in visuoconstruction and visual memory and no weaknesses in planning, cognitive flexibility or social cognition. Verbal memory seems to be a relative strength. Conclusions: Individuals with KS suffer from specific weaknesses in visuoconstruction, in addition to their intellectual disability/developmental delay. These impairments in visuoconstruction plausibly result from problems in visual perceptual processing, which highlight the importance of the use of auditory cues instead of visual cues in targeted educational support and psychosocial interventions.

Contains fulltext : 202749.pdf (publisher's version ) (Open Access), KBG syndrome is a neurodevelopmental disorder, caused by dominant mutations in ANKRD11, that is characterized by developmental delay/intellectual disability, mild craniofacial dysmorphisms, and short stature. Behavior and cognition have hardly been studied, but anecdotal evidence suggests higher frequencies of ADHD-symptoms and social-emotional impairments. In this study, behavioral and cognitive profile of KBG syndrome will be investigated in order to examine if and how cognitive deficits contribute to behavioral difficulties. A total of 18 patients with KBG syndrome and a control group consisting of 17 genetic patients with comparable intelligence levels, completed neuropsychological assessment. Age-appropriate tasks were selected, covering overall intelligence, attention, memory, executive functioning, social cognition and visuoconstruction. Results were compared using Cohen’s d effect sizes. As to behavior, fewer difficulties in social functioning and slightly more attentional problems, hyperactivity, oppositional defiant behavior and conduct problems were found in the KBG syndrome group. Regarding cognitive functioning, inspection of the observed differences shows that patients with KBG syndrome showed lower scores on sustained attention, cognitive flexibility, and visuoconstruction. In contrast, the KBG syndrome group demonstrated higher scores on visual memory, social cognition and emotion recognition. The cognitive profile of KBG syndrome in this sample indicates problems in attention and executive functioning, that may underlie the behavior profile which primarily comprises impulsive behavior. Contrary to expectations based on previous (case) reports, no deficits were found in social cognitive functioning. These findings are important for counseling purposes, for tailored education planning, and for the development of personalized intervention.

Contains fulltext : 173921.pdf (publisher's version ) (Closed access), Last December, Dr. Havdahl et al. highlighted the use of autism spectrum disorder (ASD) symptom measurements in specific groups in their article "Multidimensional Influences on Autism Symptom Measures: Implications for Use in Etiological Research". This is an important and timely topic, because public attention is currently tuned to the increasing prevalence of ASD. Dr. Havdahl et al. carefully mapped which of the tested instruments was most sensitive to detect actual ASD symptoms and to distinguish these from other typical comorbid neurodevelopmental disorders, such as intellectual disability (ID) and attention-deficit/hyperactivity disorder.

Contains fulltext : 180763.pdf (publisher's version ) (Open Access), KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay/ intellectual disability and several specific facial dysmorphisms. In addition, both ADHD- and ASS-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n=18) were compared with a control group comprising patients with NDD caused by various other genetic defects (n=17), by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome.

Contains fulltext : 173890.pdf (publisher's version ) (Closed access), 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.

Contains fulltext : 174236.pdf (Publisher’s version ) (Closed access), Objective: KBG syndrome is caused by a mutation in the ANKRD11 gene, characterized by short stature and specific dental, craniofacial and skeletal anomalies. Scarce literature on the phenotypical presentation mention delayed speech and motor development as well as mild to moderate intellectual disabilities. As to psychopathology, often, autism and ADHD are mentioned but not yet substantiated in terms of neurocognitive variables. Aim: Aim of the current study was to investigate neurocognitive aspects of KBG syndrome. Participants and Methods: Seventeen patients (aged 6–66 years; ten females) with a proven ANKRD11 mutation were compared with two different groups of patients with a genetic disorder and similar developmental ages (n = 14 and n = 10). Neuropsychological assessment was performed focusing on the level of intellectual functioning and on attention, memory, executive functioning, and social cognition. Results: In KBG patients, mild to moderate intellectual disabilities (WAIS IV Total IQ = 63.5 ± 10.7, range: 45-84) were established with a mental age that was lower than mean chronological age (6.4 ± 2.6 years versus 11 ± 5.7 years, respectively). When compared to both control groups, results indicated a relatively strong processing speed and social cognitive functioning of patients with KBG while direct recall of auditory memory was relatively poor most probably due to attentional dysfunction. Conclusions: The cognitive profile of this group of 17 patients with KBG is characterized by mild intellectual disability and diminished sustained attention in verbal tasks. Implications for diagnostic procedures and clinical management of the syndrome are discussed, also with regard to the question how this relates to classificatory diagnosis of ADHD.

Contains fulltext : 175905.pdf (publisher's version ) (Open Access), The current professional interest brief aims to outline the feasibility of using the Implicit Relational Assessment Procedure (IRAP) in a pilot study of individuals who heard voices and of whom the majority had been given a diagnosis of psychosis, and a comparison sample of non-voice hearing controls against which the clinical data could be compared (clinical voice hearers, N=9; controls, N=9). The IRAP assessed acceptance and avoidance of positively versus negatively valenced voices. All clinical participants completed the IRAP in terms of reaching the standard accuracy and latency criteria, thus demonstrating that a clinical (specifically psychosis) sample can complete content-specific IRAPs. Indeed, some procedural modifications were required and these have been outlined in the current manuscript. Preliminary results at both the group and individual levels appear to be in a meaningful direction for the psychosis sample, but not for the controls, which was consistent with our predictions. Our preliminary data support the view that the IRAP may be used effectively with a resident in-patient population.