Ellen Wingbermühle

Vincent Van Gogh Voor Geestelijke Gezondheidszorg

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J.I.M. Egger

Vincent Van Gogh Voor Geestelijke Gezondheidszorg

Roy P. C. Kessels

Radboud University Nijmegen

Renée L. Roelofs

Vincent Van Gogh Voor Geestelijke Gezondheidszorg

W.M.A. Verhoeven

Vincent Van Gogh Voor Geestelijke Gezondheidszorg

Anja G. Bos‐Roubos

Vincent Van Gogh Voor Geestelijke Gezondheidszorg

Tjitske Kleefstra

Radboud University Medical Center

Loes van Aken

Vincent Van Gogh Voor Geestelijke Gezondheidszorg

David A. Koolen

Radboud University Nijmegen

Jos Draaisma

Radboud University Nijmegen

L.C.M. van Dongen

Vincent Van Gogh Voor Geestelijke Gezondheidszorg

Cooperative Institutions

Radboud University Nijmegen

Radboud University Medical Center

Istituti di Ricovero e Cura a Carattere Scientifico

University Medical Center

Vincent Van Gogh Voor Geestelijke Gezondheidszorg

University of Milan

Kanagawa Children's Medical Center

Erasmus MC

Bambino Gesù Children's Hospital

Medical Genetics Center

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

American Journal of Medical Genetics Part A (2015)

Renée L. Roelofs Ellen Wingbermühle Kim Freriks C.M. Verhaak Roy P. C. Kessels

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. © 2015 Wiley Periodicals, Inc.

Noonan Syndrome

Assertiveness

Emotion Perception

Social information processing

10.1002/ajmg.a.37006

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Citations (13)

<p>Social cognitive training for adults with Noonan syndrome: a feasibility study</p>

Neuropsychiatric Disease and Treatment (2019)

Renée L. Roelofs Ellen Wingbermühle Roy P. C. Kessels J.I.M. Egger

Noonan syndrome (NS) is a genetic disorder that is associated with social cognitive problems. While treatment aimed at the improvement of social cognition is available for other neuropsychiatric disorders, no such interventions yet exist for NS patients. In this study, the development of the first social cognitive training for NS patients is described and its applicability and feasibility evaluated.Eleven adult patients with NS participated in this controlled proof-of-principle study. Six patients were included in the treatment group and five in the control group. Neuropsychological testing was performed in both groups at baseline and posttreatment. Social cognition was a primary outcome measure and nonsocial cognition and psychopathology secondary outcome measures. Differences between pre- and posttest were investigated with Wilcoxon signed-rank tests, and a process evaluation was performed to aid interpretation of the results.Both groups were comparable with regard to age, estimated intelligence, and baseline performance. Although no significant differences were found between pre- and posttest scores on primary and secondary outcome measures in either group, a medium-large effect size was found on emotion recognition in the treatment group. Also, the process evaluation demonstrated the feasibility of the training.This first social cognitive training for adult patients with NS has proven to be feasible for this population and showed some encouraging results regarding emotion recognition, although the training protocol could be optimized. Further investigation is required using a randomized controlled design in a larger sample, in order to substantiate the overall effectiveness of the training.

Cognitive Training

10.2147/ndt.s179527

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Citations (9)

[Neuropsychiatry as practised in a highly specialised department of a psychiatric teaching hospital: a successful interdisciplinary approach].

PubMed (2013)

W.M.A. Verhoeven J I M Egger Ellen Wingbermühle M K F Schneider

Psychiatric disorders can be interpreted as a general dysregulation of the interplay between brain and behaviour. This is why, since the late 1990’s, the terms biological psychiatry and behavioural neurology have been gradually replaced by the term neuropsychiatry. Neuropsychiatry, when practiced in combination with clinical neuropsychology, have given rise to a paradigm that is not based solely on the usual classification models but is directed primarily towards diagnosis and treatment that are based on a functional-dimensional approach.To discuss the daily practice and organisation in a specialised department for neuro-psychiatry located in a psychiatric teaching hospital.The interdisciplinary approach is explained and analysed on the basis of 10 case studies.Most of the patients referred to the specialised department already had a long history of visits to the health care facilities where they had been treated by a variety of specialists in single disciplines. Often, however, this trajectory did not involve periodical re-evaluation and updating of the original diagnosis. If this strategy had been adopted, then a clear diagnosis with simplified treatment programme might have been devised which could have resulted in a patient’s successful reintegration into society.It is essential that the interdisciplinary approach is adopted in specialised centres for neuropsychiatry because it can make an important contribution to individual patient care and to the spread of specialised knowledge that can benefit the entire field of psychiatry.

Neuropsychiatry

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Table of Contents, Volume 182A, Number 10, October 2020

American Journal of Medical Genetics Part A (2020)

Michal M. Andelman‐Gur Richard J. Leventer Mohammad Hujirat Christos Ganos Keren Yosovich

Table (database)

Table of contents

10.1002/ajmg.a.61245

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

Journal of Clinical Medicine (2022)

Ellen Wingbermühle Renée L. Roelofs Wouter Oomens Jennifer Kramer Jos Draaisma

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.

PTPN11

Noonan Syndrome

Costello syndrome

HRAS

10.3390/jcm11164735

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MMPI-2 clusters of alcohol-dependent patients and the relation to Cloninger’s temperament-character inventory

Acta Neuropsychiatrica (2007)

J.I.M. Egger Marian Gringhuis Marinus A. Breteler H.R.A. De Mey Ellen Wingbermühle

Psychometric research in the field of alcohol dependence has concentrated on identifying certain (personality) characteristics (i.e. typologies). This paper is aimed to identify such typologies and studies the relation of the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) and Cloninger's temperament-character inventory (TCI).To find MMPI-2 scales associated with maximization of group differences between 222 DSM-IV alcohol dependent inpatients and a control group of 222 normal subjects, discriminant analysis was used. In addition, a cluster analysis was performed with these scales, and the MMPI-2 mean scale values of the resulting patient clusters were examined for their TCI-correlates.The discriminant analyses showed several MMPI-2 scales that could clearly distinguish between alcohol-dependent patients and the normal controls. Cluster analysis resulted in semantically different MMPI-2 profiles implying qualitatively different groups of patients. When related to TCI scales, these differences revealed harm avoidance, self-directedness, and persistence, amongst others, as important elements in the description of the clusters.Evidence for the validity of MMPI-2 constructs as well as those of the TCI in the assessment of alcohol-dependent patients was provided.

Reward dependence

Personality test

Persistence (discontinuity)

10.1111/j.1601-5215.2007.00188.x

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Citations (16)

Fluid intelligence and executive functioning more alike than different?

Acta Neuropsychiatrica (2015)

Loes van Aken Roy P. C. Kessels Ellen Wingbermühle William M. van der Veld J.I.M. Egger

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 [χ 2 (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.

Executive summary

10.1017/neu.2015.46

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Citations (54)

Cognition and behavior in adults with neurofibromatosis type 1

Frontiers in Neurology (2024)

Anja G. Bos‐Roubos Hanneke van Leeuwen Ellen Wingbermühle Louisa van den Bosch Lindsey Ossewaarde

Neurofibromatosis Type 1 (NF1) is a congenital neurocutaneous disorder. As NF1 is incurable and presents with a wide range of physical and mental symptoms, knowledge of neurocognitive and behavioral functioning can be an important aid in understanding their functional impact, and developing treatment options. To date, studies in children with NF1 have shown dysfunction in several domains, but much less is known about cognition and behavior in adults with NF1. The present study describes the neuropsychological phenotype of adults with NF1 based on comprehensive clinical examination of cognition and behavior across multiple functions.

Neurofibromatosis type 2

10.3389/fneur.2024.1476472

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Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review

Orphanet Journal of Rare Diseases (2021)

Dagmar K. Tiemens Jacqueline Nugteren Erika Leenders Ellen Wingbermühle C.A.C.M. Pittens

Abstract Background Noonan syndrome spectrum disorders are a group of disorders caused by mutations in several genes of the RAS/MAPK pathway. Because of a highly heterogeneity and variable phenotypical manifestations of the disorders, these children and adults have a variable number of symptoms. Inclusion of their perceived experience of their health and developmental problems in research (design) could contribute to increased relevance of the research process and outcomes. The aim of this study is to get insight in what way patients with a Noonan syndrome spectrum disorder have been involved in the research process in order to learn for future engagement practices. Methods and results To that end, the degree of engagement was measured by the eight levels of the participation ladder of Arnstein. Using a scoping review approach, 18 articles were selected in which patient engagement in the design of studies in patients with Noonan syndrome spectrum disorders was described over the past twenty years. Six of these articles reported engagement on the level of informing (level 3), 8 on the level of consultation (level 4), 2 on the level of placation (level 5)and 2 on the level of partnership (level 6). Conclusions The current results do show a positive albeit still modest development of patient engagement over the last few years. A promising way to stimulate engagement is aiming to yield insights in the most important patients’ needs by developing a patient guided research agenda. However, this is not automatically followed by patient engagement at higher levels of participation in subsequent research steps. For this reason, in the Netherlands for example, a Dutch Noonan syndrome spectrum disorders research agenda is being developed, in a collaboration between the Dutch Noonan Syndrome Foundation and national scientific and clinical professionals.

Noonan Syndrome

10.1186/s13023-021-02083-x

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Exploring the incorporation of executive functions in intelligence testing: Factor analysis of the WAIS-III and traditional tasks of executive functioning.

International journal of applied psychology (2014)

Loes van Aken Roy P. C. Kessels Ellen Wingbermühle M. Wiltink Paul T. van der Heijden

The aim of this study was to examine the relationship between subtests of the Wechsler Adult Intelligence Scale – third edition (WAIS-III) and executive functions. The Behavioural Assessment of the Dysexecutive Syndrome, Wisconsin Card Sorting Test, and Stroop Color-Word Test were administered to a heterogeneous group of 234 psychiatric patients and 24 healthy volunteers. Maximum likelihood procedures with promax rotation were applied to two, three and four factor solutions. The four factor model fitted the data best, confirming the four factor indices of the WAIS-III. All three executive tasks had their highest loading on the factor corresponding to the perceptual organization index (POI) of the WAIS-III. Results confirm the overload of crystallized intelligence in the subtests and EF involvement in the POI of the WAIS-III. Results are discussed as to the need for an integrated, multifaceted view on cognitive disorders and intellectual (dis) abilities.

Stroop effect

Dysexecutive syndrome

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Citations (8)