Behavioural phenotype of noonan syndrome in adulthood

2011 ◽  
Vol 26 (S2) ◽  
pp. 820-820
Author(s):  
E. Wingbermuehle ◽  
J.I.M. Egger ◽  
I. van der Burgt ◽  
W.M.A. Verhoeven
Keyword(s):  
Social Cognition ◽  
Neuropsychological Assessment ◽  
Noonan Syndrome ◽  
Repeated Measures ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Affective Processing ◽  
Behavioural Phenotype ◽  
Affective Information Processing ◽  
Affective Information

IntroductionNoonan syndrome (NS) is an autosomal dominant genetic disorder with an estimated incidence of 1:1,500 live births and is characterized by short stature, facial dysmorphisms and congenital heart defects. At present, mutations in seven different genes have been identified. NS is associated with impaired affective processing and subsequently increased levels of anxiety.ObjectivesNeuropsychological investigation of social cognition.AimsThe use of neuropsychological assessment as a tool for studying the contribution of cognition and behaviour to the expression of the Noonan phenotype.MethodsForty adult NS-patients and a matched group of healthy controls underwent extensive neuropsychological assessment. Next to the standard cognitive domains (i.e. intelligence, attention, memory, executive functioning) several tests for social cognition were included to explore affective information processing. Correlation analysis and repeated measures MANCOVA were used.ResultsMarked problems were found in the recognition of own and other's emotions, as well as in the ability to verbally express feelings. Alexithymia was significantly more prevalent in the NS-group. In addition, NS-patients displayed more mood and anxiety complaints than controls. A tendency was found to social desirability and agreeableness.ConclusionsImpairments in social cognition are common elements of NS behavioural phenotype in adults. With neuropsychological assessment, psychosocial immaturity, amenable traits and alexithymia could be identified. The latter increases the vulnerability for the development of mood and anxiety disorders.

Affective functioning and social cognition in Noonan syndrome

2011 ◽  
Vol 42 (2) ◽  
pp. 419-426 ◽  
Author(s):  
E. Wingbermühle ◽  
J. I. M. Egger ◽  
W. M. A. Verhoeven ◽  
I. van der Burgt ◽  
R. P. C. Kessels
Keyword(s):  
Social Cognition ◽  
Emotion Recognition ◽  
Noonan Syndrome ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Recognition Task ◽  
Well Being ◽  
Facial Emotion Recognition ◽  
Facial Emotion ◽  
Clinical Group

BackgroundNoonan syndrome (NS) is a common genetic disorder, characterized by short stature, facial dysmorphia, congenital heart defects and a mildly lowered IQ. Impairments in psychosocial functioning have often been suggested, without, however, systematic investigation in a clinical group. In this study, different aspects of affective processing, social cognition and behaviour, in addition to personal well-being, were assessed in a large group of patients with NS.MethodForty adult patients with NS were compared with 40 healthy controls, matched with respect to age, sex, intelligence and education level. Facial emotion recognition was measured with the Emotion Recognition Task (ERT), alexithymia with both the 20-item Toronto Alexithymia Scale (TAS-20) and the Bermond–Vorst Alexithymia Questionnaire (BVAQ), and mentalizing with the Theory of Mind (ToM) test. The Symptom Checklist-90 Revised (SCL-90-R) and the Scale for Interpersonal Behaviour (SIB) were used to record aspects of psychological well-being and social interaction.ResultsPatients showed higher levels of cognitive alexithymia than controls. They also experienced more social distress, but the frequency of engaging in social situations did not differ. Facial emotion recognition was only slightly impaired.ConclusionsHigher levels of alexithymia and social discomfort are part of the behavioural phenotype of NS. However, patients with NS have relatively intact perception of emotions in others and unimpaired mentalizing. These results provide insight into the underlying mechanisms of social daily life functioning in this patient group.

scholarly journals Assessment Of Psychological Advertising Along Consumer Rights And The Rule On Section 5 Of The Federal Trade Commission, Part 1 Of 2: Unfairness Doctrine

2020 ◽  
Vol 36 (4) ◽  
pp. 153-170
Author(s):  
Michelle Alarcon ◽  
Joseph Ha
Keyword(s):  
Consumer Choice ◽  
Free Choice ◽  
Federal Trade Commission ◽  
Affective Processing ◽  
Consumer Rights ◽  
Legal Implications ◽  
Or Practice ◽  
Affective Information Processing ◽  
Affective Information ◽  
Brain Processing

Over a century of research and empirical findings have linked advertising with consumer choice based on affective information processing, which many researchers emphasized as unconscious brain processing. This paper examines a variety of empirical findings and historical data on psychological or affective processing which provides evidence that psychological advertising affects consumer behavior and choice. Thereafter, building on existing research and literature, we analyze the legal implications of psychological advertising to stimulate affective or unconscious decisions that impairs rational choice and thus harmful. Based on this argument, we analyze the current federal consumer protection law regulating advertising under Section 5 of the Federal Trade Commission Act (“FTC Act”) which bans unfair and deceptive practices, then present rationales for change followed by a framework for revision. The objectives of such change is to ensure that this regulation upholds consumer rights and provide a consumercentric process that respects free choice. One outcome of this proposal will be a ban on advertising practices that utilize psychological stimuli. The framework will focus on expanding the “unfairness” doctrine of the FTC Act. The Federal Trade Commission (“FTC”) states that “unfair acts or practices injure both consumers and competitors because consumers who would otherwise have selected a competitor’s product are wrongly diverted by the unfair act or practice,” thus an effective customer-centric regulation could postulate a healthier economy.

The neurocognition of alexithymia: evidence from neuropsychological and neuroimaging studies

2012 ◽  
Vol 24 (2) ◽  
pp. 67-80 ◽  
Author(s):  
Ellen Wingbermühle ◽  
Hanneke Theunissen ◽  
Willem M. A. Verhoeven ◽  
Roy P. C. Kessels ◽  
Jos I. M. Egger
Keyword(s):  
Social Cognition ◽  
Emotional Processing ◽  
Empirical Studies ◽  
Brain Structures ◽  
Neural Substrates ◽  
Neural Representation ◽  
Affective Information Processing ◽  
Expression Of Emotions ◽  
Affective Information ◽  
Psychiatric Problems

Objective: Alexithymia refers to an ineffective regulation and expression of emotions. It constitutes a major risk factor for a range of medical and psychiatric problems, including chronic pain, somatisation, anxiety and depression. Alexithymia is a multi-faceted concept, described in terms of cognitive and affective aspects. From a neuropsychological perspective, alexithymia can be defined as a disturbance in affective information processing and social cognition. As the growing literature on brain structures involved in alexithymia is fragmented and sometimes even contradictory, the aim of this article was to review findings on neural substrates with regard to their convergence.Methods: A narrative review was performed, including both early neuropsychological and more recent imaging studies, in order to achieve a better understanding of the aetiology of alexithymia.Results: Corpus callosum, cingulate cortex and insula are clearly involved in alexithymia. The amygdala and the orbitofrontal part of the cortex appear to be implicated as mediators, because of their broader involvement in emotional processing and executive control.Conclusion: Notwithstanding the diffuse neural representation, the alexithymia construct can be usefully applied in the clinical and empirical studies of social cognition, particularly when adopting a dimensional neuropsychological approach.

Noonan syndrome and pregnancy outcomes

2022 ◽  
pp. 1-5
Author(s):  
Christopher A. Chow ◽  
Katherine H. Campbell ◽  
Josephine C. Chou ◽  
Robert W. Elder
Keyword(s):  
Caesarean Section ◽  
Noonan Syndrome ◽  
Neonatal Intensive Care ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Pulmonary Stenosis ◽  
Retrospective Chart Review ◽  
Maternal Complications ◽  
Cardiac Procedures

Abstract Background: Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis, atrial septal defect and hypertrophic cardiomyopathy. Scarce data exists regarding the safety of pregnancy in patients with Noonan syndrome, particularly in the context of maternal cardiac disease. Study design: We performed a retrospective chart review of patients at Yale-New Haven Hospital from 2012 to 2020 with diagnoses of Noonan syndrome and pregnancy. We analysed medical records for pregnancy details and cardiac health, including echocardiograms to quantify maternal cardiac dysfunction through measurements of pulmonary valve peak gradient, structural heart defects and interventricular septal thickness. Results: We identified five women with Noonan syndrome (10 pregnancies). Three of five patients had pulmonary valve stenosis at the time of pregnancy, two of which had undergone cardiac procedures. 50% of pregnancies (5/10) resulted in pre-term birth. 80% (8/10) of all deliveries were converted to caesarean section after a trial of labour. One pregnancy resulted in intra-uterine fetal demise while nine pregnancies resulted in the birth of a living infant. 60% (6/10) of livebirths required care in the neonatal intensive care unit. One infant passed away at 5 weeks of age. Conclusions: The majority of mothers had pre-existing, though mild, heart disease. We found high rates of prematurity, conversion to caesarean section, and elevated level of care. No maternal complications resulted in long-term morbidity. Our study suggests that women with Noonan syndrome and low-risk cardiac lesions can become pregnant and deliver a healthy infant with counselling and risk evaluation.

scholarly journals A Rare Mutation In Noonan Syndrome

2020 ◽  
Vol 7 (3) ◽  
pp. 1-4
Author(s):  
Vasco Carvalho ◽  
Keyword(s):  
Short Stature ◽  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Facial Features ◽  
Rare Mutation ◽  
Live Births ◽  
Increased Risk

Noonan Syndrome (NS) is a genetic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. The incidence is estimated to be between 1:1000 and 1:2500 live births. Mutations in PTPN11 (12q24.13) are seen in 50% of cases.

Noonan Syndrome

2010 ◽  
Author(s):  
Ellen Wingbermüuhle ◽  
Ineke van der Burgt
Keyword(s):  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Tyrosine Phosphatase ◽  
Older Age ◽  
Diagnostic Process ◽  
Age Related

Noonan syndrome (NS) is a genetic disorder characterized by short stature, typical facial dysmorphology, and congenital heart defects. Noonan syndrome may occur on a sporadic basis or in a pattern consistent with autosomal dominant inheritance, with a predominance of maternal transmission (Noonan 1994). In approximately 50% of the patients with definite NS, a missense mutation is found in the PTPN11 gene on chromosome 12. PTPN11 is one of the genes of the Ras-MAPK pathway, a signal transduction cascade that has been studied extensively for its role in human oncogenesis. The signaling cascade regulates cell proliferation, differentiation, and survival. PTPN11 encodes the nonreceptor protein tyrosine phosphatase SHP-2. The mutations associated with NS result in a gain of function of SHP-2 (Tartaglia and Gelb 2005). Recently, activating mutations in other genes of the Ras-MAPK pathway (SOS1, KRAS, RAF1) were found as the causative dominant mutations in NS. These findings establish hyperactive Ras as a cause of the developmental abnormalities seen in NS (Schubbert et al. 2007). The diagnosis is made on clinical grounds, by observation of key features. Establishing the diagnosis can be very difficult, especially at an older age. There is great variability in expression, and mild expression is likely to be overlooked. Improvement of the phenotype occurs with increasing age. The age-related change of facial appearance can be subtle, especially at older age. Several scoring systems have been devised to guide the diagnostic process). The most recent scoring system was developed in 1994 (Van der Burgt et al. 1994). The incidence of NS is estimated to be between 1:1,000 and 1:2,500 live births (Mendez and Opitz 1985). Further details on the various medical aspects of NS (e.g., congenital heart defects, skeletal and urethrogenital abnormalities, growth delay) can be found in Van der Burgt (2007). A number of conditions have phenotypes strikingly similar to NS. The first is Turner syndrome (45, X0), a well-known chromosomal abnormality in girls. A group of distinct syndromes with partially overlapping phenotypes also exist in which causative mutations are also found in genes of the RAS-MAPK pathway.

Comparing Performance Across In-person and Videoconference-Based Administrations of Common Neuropsychological Measures in Community-Based Survivors of Stroke

2020 ◽  
pp. 1-14
Author(s):  
Jodie E. Chapman ◽  
Betina Gardner ◽  
Jennie Ponsford ◽  
Dominique A. Cadilhac ◽  
Renerus J. Stolwyk
Keyword(s):  
Neuropsychological Assessment ◽  
Language Impairment ◽  
Repeated Measures ◽  
Verbal Learning ◽  
Intraclass Correlation ◽  
Correlation Coefficients ◽  
Preliminary Evidence ◽  
Service Access ◽  
Community Based ◽  
Neuropsychological Measures

Abstract Objective: Neuropsychological assessment via videoconference could assist in bridging service access gaps due to geographical, mobility, or infection control barriers. We aimed to compare performances on neuropsychological measures across in-person and videoconference-based administrations in community-based survivors of stroke. Method: Participants were recruited through a stroke-specific database and community advertising. Stroke survivors were eligible if they had no upcoming neuropsychological assessment, concurrent neurological and/or major psychiatric diagnoses, and/or sensory, motor, or language impairment that would preclude standardised assessment. Thirteen neuropsychological measures were administered in-person and via videoconference in a randomised crossover design (2-week interval). Videoconference calls were established between two laptop computers, facilitated by Zoom. Repeated-measures t tests, intraclass correlation coefficients (ICCs), and Bland–Altman plots were used to compare performance across conditions. Results: Forty-eight participants (26 men; M age = 64.6, SD = 10.1; M time since stroke = 5.2 years, SD = 4.0) completed both sessions on average 15.8 (SD = 9.7) days apart. For most measures, the participants did not perform systematically better in a particular condition, indicating agreement between administration methods. However, on the Hopkins Verbal Learning Test – Revised, participants performed poorer in the videoconference condition (Total Recall Mdifference = −2.11). ICC estimates ranged from .40 to .96 across measures. Conclusions: This study provides preliminary evidence that in-person and videoconference assessment result in comparable scores for most neuropsychological tests evaluated in mildly impaired community-based survivors of stroke. This preliminary evidence supports teleneuropsychological assessment to address service gaps in stroke rehabilitation; however, further research is needed in more diverse stroke samples.

scholarly journals Effect of acute citalopram on self-referential emotional processing and social cognition in healthy volunteers

BJPsych Open ◽  
2020 ◽  
Vol 6 (6) ◽  
Author(s):  
Catherine Hobbs ◽  
Susannah E. Murphy ◽  
Lucy Wright ◽  
James Carson ◽  
Indra Van Assche ◽  
...  
Keyword(s):  
Social Cognition ◽  
Healthy Volunteers ◽  
Antidepressant Treatment ◽  
Affective Learning ◽  
The Self ◽  
Affective Processing ◽  
Antidepressant Effect ◽  
Acute Administration ◽  
Double Blind ◽  
Prosocial Behaviours

Background Depression is characterised by negative views of the self. Antidepressant treatment may remediate negative self-schema through increasing processing of positive information about the self. Changes in affective processing during social interactions may increase expression of prosocial behaviours, improving interpersonal communications. Aims To examine whether acute administration of citalopram is associated with an increase in positive affective learning biases about the self and prosocial behaviour. Method Healthy volunteers (n = 41) were randomised to either an acute 20 mg dose of citalopram or matched placebo in a between-subjects double-blind design. Participants completed computer-based cognitive tasks designed to measure referential affective processing, social cognition and expression of prosocial behaviours. Results Participants administered citalopram made more cooperative choices than those administered placebo in a prisoner's dilemma task (β = 20%, 95% CI: 2%, 37%). Exploratory analyses indicated that participants administered citalopram showed a positive bias when learning social evaluations about a friend (β = 4.06, 95% CI: 0.88, 7.24), but not about the self or a stranger. Similarly, exploratory analyses found evidence of increased recall of positive words and reduced recall of negative words about others (β = 2.41, 95% CI: 0.89, 3.93), but not the self, in the citalopram group. Conclusions Participants administered citalopram showed greater prosocial behaviours, increased positive recall and increased positive learning of social evaluations towards others. The increase in positive affective bias and prosocial behaviours towards others may, at least partially, be a mechanism of antidepressant effect. However, we found no evidence that citalopram influenced self-referential processing.

Sign in / Sign up

Export Citation Format

Share Document