Neuropsychological and Behavioral Aspects of Noonan Syndrome

Abstract

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.

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

“…One study reported a 34 % rate of clinically significant externalizing symptoms in a sample of children with NS (Alfieri et al 2014), but the threshold for significance was not described and scores were not compared to a control sample. In contrast, other studies have not found that aggressive behaviors and other externalizing symptoms are observed more frequently in individuals with NS than in typically developing individuals (Pierpont et al 2015;Wingbermühle et al 2009). …”

“…Individuals with NS have been described as having tendencies toward social immaturity, reduced interaction with peers, and diminished insight in social situations (Wingbermühle et al 2009;Sarimski 2000), although many of these characteristics have not been examined in depth. With respect to social cognitive processing, no studies have directly investigated whether children with NS have impairments on behavioral tasks assessing emotion perception, social attribution of meaning, or other aspects of social cognition.…”

“…A handful of adult case reports have reported co-occurrence of NS and other psychiatric diagnoses including alcohol abuse, anorexia nervosa, bipolar disorder panic disorder, obsessivecompulsive disorder, and schizophrenia (Arvaniti et al 2014;Noonan 2005;Wingbermühle et al 2009). Nevertheless, given the dearth of these types of published reports, there is no clear evidence to suggest that serious mental illness is more common in NS than in the general population.…”

“…A growing body of research reveals that neuropsychological impairments are quite common in NS (Wingbermühle et al 2009). Indeed, for individuals who do not experience significant medical complications, concerns related to cognitive, social, or behavioral functioning could be the most significant component of having NS affecting their lives.…”

Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade

“…Moreover, studies in individuals with NS, LS and other clinically related condition (i.e., cardiofaciocutaneous syndrome and Costello syndrome) associated with different mutations in genes of the RAS-MAPK cascade indicated that the heterogeneity in cognitive abilities observed in these patients was at least partially attributable to the individual affected genes and type of mutation involved (Cesarini et al 2009;Pierpont et al 2009). A further study in NS reported general Intelligence Quotient (IQ) and language scores in the low average range with mildly delayed motor and global development (Wingbermuehle et al 2009). Our studies also reported that visual and visuoperceptual abilities are commonly impaired in NS and LS (Alfieri et al 2008).…”