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AimOur study aims to explore the relationship between anxiety, depressive symptoms, and family functioning about quality of life in children diagnosed with neurofibromatosis type 1.MethodsA total of 51 participants, including 24 children in the neurofibromatosis type 1 group and 27 age- and gender-matched controls, aged between 8 and 18 years, were included. A pediatric neurologist confirmed each neurofibromatosis type 1 diagnosis. A semi-structured clinical interview (KSADS-PL) and psychometric evaluation were performed by a unique child psychiatrist. A sociodemographic form and psychometric scales assessing family functioning, quality of life, and children's anxiety and depressive symptoms were administered.ResultsAttention-deficit hyperactivity disorder and/or specific learning disorder were identified in 12 cases (50.0%). Parent-reported psychosocial subscores and total quality of life scores were significantly lower in the neurofibromatosis type 1 group compared with controls. Affective involvement subscores in family functioning were significantly higher in the neurofibromatosis type 1 group than in controls. The total quality of life scores reported by both children and parents, along with parent-reported psychosocial quality of life subscores, showed a moderate positive correlation with age at neurofibromatosis type 1 diagnosis. In contrast to the control group, problem-solving subscores in family functioning in the neurofibromatosis type 1 group showed a moderate positive correlation with depression scores and a moderate negative correlation with child-reported psychosocial quality of life subscores. Additionally, in the neurofibromatosis type 1 group, general family functioning exhibited a moderate positive correlation with total anxiety scores and a moderate negative correlation with child-reported psychosocial quality of life subscores.ConclusionsAddressing family functioning and integrating psychosocial support into neurofibromatosis type 1 management may enhance adaptation, mental health, and long-term quality of life for affected children and their families.