Abstract
Objective: Noonan syndrome (NS) is a genetic disorder related to mutations in the RAS-MAPK pathway. Cardinal features include short stature, facial dysmorphia, congenital heart defects, subtle cognitive decrements and a slightly lowered mean IQ (≈ 90). These characteristics may bring about lowered levels of quality of life (QoL). In this study, QoL was evaluated in adults with NS. Participants and Methods: Forty-five adult patients with NS and 26 IQ-matched, healthy controls completed the Dutch version of the Lancashire Quality of Life Profile (LQoLP), a comprehensive structured interview covering nine domains of QoL, as well as global measures on wellbeing. Groups were compared using ANOVA and chi-square tests. Results: Patients with NS demonstrated significantly lower levels of QoL on two out of four general outcome measures (Happiness with life and Cantril's ladder, p<0.05). Contrary to the controls, the majority of patients did not have a relationship (p<0.05). A history of being bullied in youth was more prevalent in the NS group (p<0.01,) and patients presented with significantly lower levels of self-esteem (p<0.05). No difference was found in satisfaction with health, in spite of the medical burden in the NS group. Conclusions: The QoL profile of adult NS patients differs from that of controls with respect to both subjective measures, such as happiness with life and self-esteem, and objective measures like relationship status. Lowered QoL in NS may be moderated by neurocognitive deficit, such as slower speed of information processing and alexithymic traits, which have been demonstrated in this group before.
