OBJECTIVES: Rare diseases have a substantial impact on the Quality of Life (QoL) of patients, yet there is limited knowledge about the QoL of Moroccan patients with rare diseases. Our objective was to evaluate the influence of rare diseases on the overall QoL of Moroccan children with such conditions.

METHODS: We conducted a prospective descriptive study from June 17th, 2023, to july 19th, 2023. The study population consisted of children with rare diseases who sought genetic consultation at the Center of Consultations and External Explorations of the Children's Hospital at Ibn Sina University Hospital in Rabat, Morocco. The study sample included children who met the inclusion criteria and whose parents provided informed consent. Socio-demographic data were collected, and QoL was assessed using the PedsQL ^TM 4.0 Generic Core Scales.

RESULTS: The study included a total of 16 patients aged 2 to 18 years. The mean age of the participants were 2.31±1.25 years, with 43,8% falling into the toddler age group. Out of the total patients, 62.5% (n=10) were male. Additionally, 43.8% (n=7) of the children were consanguineous. 11 parents completed the PedsQL as proxy-reporters for their children. The patients exhibited lower scores in physical (mean: 49.80), emotional (mean: 63.43), social (65.31), and school functioning (mean: 31.42). When comparing QoL scores between girls and boys, boys had lower scores on all PedsQL subscales except for emotional functioning.

CONCLUSIONS: QoL is recognized as a crucial measure of well-being. This study provided evidence of notable declines in QoL among children with rare diseases. These findings should assist health policymakers in providing targeted and improved support for children affected by rare diseases.