Quality of Life Evaluation Using the Kidslife Scale in Individuals with Cornelia de Lange Syndrome

Abstract

Abstract Background Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder with multisystemic involvement. Despite numerous clinical and molecular studies, there is a paucity of research specifically addressing the evaluation of quality of life (QoL) and its relationship with syndrome-specific risk factors. Methods The QoL of 33 individuals diagnosed with CdLS, aged between 4 and 21 years, was evaluated through the Kidslife questionnaire. This study specifically examined the impact of 14 identified risk factors on the overall QoL and its eight domains. Results The study revealed below-median QoL at 45.3 percentile, with the most affected domains being physical well-being, personal development, and self-determination. Upon classifying our cohort according to QoL percentiles (Low: < p33, Medium: p33-p66, and High: > p66), the main risk factors identified included variants in the NIPBL gene, clinical scores ≥ 11, and severe behavioral and communication issues. Conclusions The Kidslife scale has demonstrated its utility as a valuable tool for assessing QoL in individuals diagnosed with CdLS. According to our findings, we highlight the necessity of applying specific therapies for behavioral problems after ruling out underlying causes such as pain or gastroesophageal reflux, and implementing measures that facilitate communication and promote social interaction in individuals with CdLS.