Physicians' adherence to published guidelines regarding the outpatient care of pediatric patients with neurofibromatosis type 1

Autor: Eugen-Matthias Strehle, Sarah R. Hill
Rok vydání: 2020
Předmět:
Zdroj: Gene Reports. 20:100697
ISSN: 2452-0144
DOI: 10.1016/j.genrep.2020.100697
Popis: Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder characterized by cafe-au-lait spots (CALS), freckling, Lisch nodules, optic gliomas, neurofibromas, bone deformities and learning difficulties. The aim of this observational study was the adherence of clinical outpatient care to published NF1 guidelines including genetic testing. Patients and outpatient appointments were identified from a hospital database over an 8-year-period. Clinic letters were used as a source of information. Eight clinical parameters for comparison were chosen from the guidelines published by the Neuro Foundation (Nerve Tumours UK). In total, 60 young patients (mean/median age 8 years) attended 293 outpatient appointments. Seventy-seven percent of patients were seen more than once during the study period. The mean appointment number per patient was 4.9 (median 5). Six of the eight recommended clinical parameters were checked in over 50% of patients. Neurodevelopment was checked in 76%. Fundoscopy and pubertal assessment were least commonly performed (8% and 12%, respectively). Twenty-two percent of patients had a genetic test and 12% tested positive for NF1. In conclusion, a genetic diagnosis of NF1 is still uncommon, and there is room for improvement in the long-term care of NF1 patients. Ideally, follow up should take place in a designated NF1 clinic.
Databáze: OpenAIRE
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