Orphanet Journal of Rare Diseases (May 2022)
Transition to adult care of young patients with neurofibromatosis type 1 and cognitive deficits: a single-centre study
Abstract
Abstract Background The transition of adolescents to adult care is known to be challenging. Studies indicate that patients with a chronic disease and cognitive deficits are at risk of inadequate transition to adult care, which eventually may result in disease deterioration. This study investigated the transition process for patients with neurofibromatosis type 1 (NF1) and discussed whether patients with NF1 and cognitive deficits should receive additional attention in their transitional period. Method A self-reported online questionnaire assessing disease severity, cognitive deficits, psychiatric diagnoses as well as transition experiences was completed by patients with NF1 aged 15–25-years. Patients were assigned to a national NF1 expert centre covering the western part of Denmark. Furthermore, a retrospective medical chart review was performed, and data were collected to estimate the prevalence of psychiatric diagnoses. Results The questionnaire was completed by 41/103 (39%), median age 20 [range 15; 25] years. Medical chart review was performed in 103 patients, median age 20 [range 15; 25]. Participants reporting the transition as difficult all received special needs education, six reported executive function deficits and three out of seven had a psychiatric diagnosis. Fifteen (37%) questionnaire participants reported a wish for more information about the natural history and the prognosis of NF1. The prevalence of psychiatric diagnoses was 24% in the questionnaire survey and 30% in the medical chart review. Conclusion This study suggests a need of additional care for patients with NF1 and cognitive deficits including psychiatric disorders during their transition to adult care. In addition, it suggests a need for more information on and education in long-term prospects and mental health issues for patients with NF1.
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