Quality of life in adults with Noonan syndrome

Contains fulltext : 166253.pdf (publisher's version ) (Open Access)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