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

This study looked at 42 children and young adults with Noonan syndrome to understand their mental health and daily functioning. Most had normal intelligence, but many experienced challenges: 1 in 5 had ADHD-like symptoms, and 1 in 10 showed signs of autism or significant behavioral problems. When children had more mental health difficulties, their daily living skills were worse and family quality of life suffered. The good news is that conditions like ADHD can be treated to help improve functioning.

This cross-sectional study examined psychopathology and adaptive functioning in 42 children, adolescents, and young adults with Noonan syndrome (NS). Participants showed average nonverbal intelligence (mean IQ 99.4), with only 8% having cognitive impairment. However, psychopathology was common: 20% had clinical-range ADHD symptoms, 10% showed clinical-range behavioral problems, and 10% had autism spectrum disorder symptoms. Importantly, higher psychopathology scores were significantly correlated with poorer adaptive functioning and reduced family quality of life.

The findings suggest that while cognitive abilities are typically preserved in NS, attention and behavioral difficulties are prevalent and impact daily functioning.

Regular mental health screening is essential for individuals with Noonan syndrome, particularly for ADHD and autism spectrum symptoms. Early identification and treatment of psychopathology may improve adaptive functioning and family quality of life. Clinicians should not assume cognitive impairment based on syndrome diagnosis alone.

Single cross-sectional study with relatively small sample size (n=42). No control group for comparison. Study type unclear from metadata. Limited generalizability due to sample characteristics and potential selection bias from clinical recruitment.

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. Forty-two subjects affected by NS (23 males and 19 females), aged 5 to 21 years (mean 12.6 ± SD 5.1), were assessed for nonverbal cognitive abilities, with dimensional measures of psychopathology, adaptive functioning, and family quality of life. The nonverbal intelligence quotient (IQ) mean was 99.4 ± 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 = -0.63, 95% CI, -0.78 to -0.40 and r = -0.48, 95% CI, -0.69 to -0.20, respectively). 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.