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Neuropediatrics 2023; 54(06): 430-432
DOI: 10.1055/s-0043-1768988
Short Communication

Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study

Sarah Hofmann
1   Division of Pediatric Neurology, Department of Pediatric and Adolescent Medicine, Medical University of Innsbruck, Innsbruck, Austria
,
Sandra Winkler
1   Division of Pediatric Neurology, Department of Pediatric and Adolescent Medicine, Medical University of Innsbruck, Innsbruck, Austria
,
Matthias Baumann
1   Division of Pediatric Neurology, Department of Pediatric and Adolescent Medicine, Medical University of Innsbruck, Innsbruck, Austria
,
Herta Zellner
1   Division of Pediatric Neurology, Department of Pediatric and Adolescent Medicine, Medical University of Innsbruck, Innsbruck, Austria
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Abstract

This article obtains an overview of the health status of children and adolescents with neurofibromatosis type 1 (NF1) with a focus on the clinical course of the disease, neuropsychodiagnostic findings, and their impact on quality of life (QoL). In this observational study, data were collected from 24 children and adolescents with NF1 who were cared for at the University Hospital in Innsbruck, Austria, from 2008 to 2022. Data were collected every 6 to 12 months from routine check-ups, including clinical features and imaging findings. Results of neuropsychodiagnostic tests and the KINDL questionnaire to assess QoL were included. Of 24 patients, 15 underwent a neuropsychological examination. Attention performance was examined in 11 of them. Eight of 11 (72%) showed an attention deficit. Assessment for specific developmental disorders showed visual-spatial difficulties in 12/15 (80%) patients. The KINDL questionnaire values ranged from 58.22 to 97.92 (0 stands for reduced QoL, 100 for very good QoL). Patients with scoliosis had a lower range of QoL (56.33–73.96). No trend in QoL was observed in children and adolescents with plexiform neurofibromas, below-average intelligence or optic gliomas. NF1 patients show very different clinical courses. Regular neuropsychological assessment especially with regard to visual-spatial skills and attention deficits is necessary to offer appropriate support, promote children's development, and thus improve their QoL.

Keywords

neurofibromatosis type 1 - quality of life - attention deficit - visual-spatial difficulties


Publication History

Received: 16 February 2023

Accepted: 18 April 2023

Article published online:
15 June 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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