Background Neurofibromatosis 1 (NF1) has a significant impact on quality of life (QoL).
Objectives To evaluate QoL in NF1 according to phenotype from the viewpoint of children and proxy.
Methods One hundred and forty families with a child aged between 8 and 16 years, seen consecutively at the National Academic Paediatric Referral Centre for NF1 for a phenotype evaluation, were contacted by mail. Families agreeing to participate were sent two questionnaires, the DISABKIDS for children and proxy and the cartoon version of the Children’s Dermatology Life Quality Index (CDLQI). QoL scores were compared with those in other major diseases and were analysed according to age, gender and phenotype.
Results Eighty families agreed to participate, and 79 returned the questionnaires. Using DISABKIDS, NF1 had a higher impact on health-related QoL than asthma (mean ± SD 75·18 ± 18·22 vs. 79·78 ± 13·41; P = 0·005). The total score was more altered when assessed by proxy than by children (71·20 ± 17·94 vs. 75·18 ± 18·22; P = 0·002). Orthopaedic manifestations, learning disabilities and presence of at least two plexiform neurofibromas were independently associated with a higher impact (P < 0·01). The CDLQI score was slightly altered (11·3%). Dermatological signs, such as café-au-lait spots and freckling, did not have a significant impact.
Conclusions Orthopaedic manifestations, learning disabilities and plexiform neurofibromas are the main complications impacting on QoL during childhood NF1. QoL could be considered as an endpoint for intervention studies in this context.