Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome

Abstract

Objective: The objective of this study was to examine psychopathology and its impact on adaptive functioning in a sample of patients affected by Noonan syndrome (NS), a genetically heterogeneous condition with systemic manifestations. Method: Forty-two subjects affected by NS (23 males and 19 females), aged 5 to 21 years (mean 12.6 6 SD 5.1), were assessed for nonverbal cognitive abilities, with dimensional measures of psychopathology, adaptive functioning, and family quality of life. Results: The nonverbal intelligence quotient (IQ) mean was 99.4 6 SD 22.2, with 3 subjects (8%, 95% confidence interval [CI], 1.6%-20.9%) showing cognitive impairment (IQ<70). The Parent Child Behavior Checklist (CBCL) total psychopathology score was in the clinical range in 10% of sample and borderline in another 10%. On the Conners' Parent Rating Scales, scores suggestive of attention-deficit/hyperactivity disorder (ADHD) were in the clinical range in 20%. On the autism quotient, autism spectrum disorder symptoms were reported in 10%. Higher scores on the Adaptive Behavioral Assessment System-Second Edition and on the World Health Organization Quality of Life (26 items) were associated with lower problems on the CBCL (r 5 20.63, 95% CI, 20.78 to 20.40 and r 5 20.48, 95% CI, 20.69 to 20.20, respectively). Conclusion: Psychopathology was common in patients with NS and negatively correlated with global functioning and family quality of life. Treatable psychopathology, such as ADHD, may constitute a treatment target for improving adaptive functioning.

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

“…In adults, “only” a lower speed of information processing and social cognitive impairments have been demonstrated in case-control studies [ 10 , 11 ]. With respect to behavior and psychopathology, children with NSSDs tend to display more symptoms of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) than do typically developing children, which is in line with deficits found in attention and social cognition [ 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 ]. A higher risk of internalizing problems has been repeatedly described for both juveniles [ 13 , 14 , 20 , 21 ] and adults [ 10 , 22 , 23 , 24 ].…”

Emotional dysregulation, alexithymia and neuroticism: a systematic review on the genetic basis of a subset of psychological traits

“…There is also evidence that global and social functioning is negatively correlated with family quality of life and a negative environment (neglect) (Davico et al, 2022), pointing out that environmental factors, in this case, play a relevant role. A single GWAS was found studying alexithymia (Mezzavilla et al, 2015).…”

Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome

“…For instance, depression has been reported in around 49% of individuals with NS (Roberts et al, 2013 ). During adolescence and adulthood, people with NS may exhibit demoralization, low degree of life satisfaction, and low adaptive functioning with significant issues during daily life (Davico et al, 2022 ). Additionally, regarding NS psychopathology in children, affective and behavioral dysregulation symptoms have been reported (Wingbermühle et al, 2012 ) as well as anxiety, low self‐esteem, irritability, rapid speech, and hyperactivity (Alfieri et al, 2021 ).…”