Aim

Our study aims to explore the relationship between anxiety, depressive symptoms, and family functioning about quality of life in children diagnosed with neurofibromatosis type 1.

Methods

A 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.

Results

Attention-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.

Conclusions

Addressing 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.