The current paper introduces concise neuropsychological assessment as an essential tool for studying the contribution of cognition and behavior in the expression of genetic syndromes, like Noonan syndrome (NS). Cognitive and behavioral findings in NS show intelligence scores across a wide range, with a mildly lowered average level. Language and motor development are often delayed, but no longer dysfunctional in adulthood. Continuing mild problems in selective and sustained attention are noted, as well as suboptimal organization skills and compromised abilities to structure complex information. These problems seem to culminate in learning difficulties, requiring attention for special needs in education. It seems that a complex of psychosocial immaturity, alexithymia and amenable traits is typical of NS patients. Consequently, psychopathology or psychological problems in leading a self-serving life may often remain underreported. This is why the authors advocate the integration of the domain of social cognition and personality in NS assessment.
Although there is scarce literature on the cognitive and social functioning of patients with Noonan syndrome (NS), some evidence exists for a characteristic pattern of deficits in emotion identification and emotion verbalisation, which seems to be not attributable to intelligence. It has been suggested that this pattern could be best captured with the concept of alexithymia.The present study examines convergent and discriminant validity of two well-known alexithymia measures, i.e., the Toronto Alexithymia Scale (TAS-20) and the Bermond-Vorst Alexithymia Questionnaire (BVAQ) in a sample of 28 patients with Noonan Syndrome (NS). To enable interpretative refinement, results were related to intelligence and to measures of empathy and motivational drive.It was hypothesised that TAS-20 and BVAQ would show strong positive intercorrelations, independent of intelligence levels. Inverse correlations between alexithymia and both motivational drive and empathy were expected.In line with expectations, TAS-20 and BVAQ showed positive intercorrelations, although convergence typically was found to be stronger for the cognitive aspects of alexithymia than for the affective aspects. As expected, empathy correlated negatively with alexithymia. However, intelligence nor motivational drive seemed to be related to alexithymia.The present results lend support to the validity of alexithymia assessment in NS-patients. Interestingly, while empathy and motivational drive can be seen as executive aspects, results also suggest the adoption of a neuropsychological perspective when studying the alexithymia concept.
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.
ObjectiveKBG 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.AimAim 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.ResultsIn 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.ConclusionsThe 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.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.