ArticleOrphanet journal of rare diseases2024
Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- In vivo analysis of iridocorneal angle parameters with spectral-domain optical coherence tomography in children with Neurofibromatosis type 1.Eye (London, England) · 2025Article
- Family history does not influence stress or major coping styles in adults with neurofibromatosis type 1.Journal of genetic counseling · 2025Article
- Typical presentation of neurofibromatosis type I in a patient with giant cutaneous neoplasm and café au lait spots: A case report.Biomedical reports · 2025Article
- Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility.Children (Basel, Switzerland) · 2024Article
- Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?Trends in neurosciences · 2024Review
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
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Abstract
backgroundNeurofibromatosis type 1 (NF1) is one of the most common RASopathies predisposing affected patients to melanic lesions and benign tumors. NF1 is associated with considerable esthetic and functional burden negatively affecting the patient's quality of life (QoL). This study aims to assess the clinical features of NF1 patients and evaluate their impact on QoL. We identified NF1 patients from a public health database of a region in Spain. All patients underwent clinical and ophthalmological evaluation for NF1 features. We measured QoL using the Spanish version of the Skindex-29.
resultsForty patients fulfilled the NF1 National Institute of Health criteria when we recruited patients. The median age was 42.00 years (IQR 26.5 -53.75). The median total Skindex-29 score was 12.3 (IQR 5.9-22.4); (emotion: 15.0, IQR 5.0-37.5; symptoms 8.9, IQR 0.0-17.9 and functioning 8.3; IQR 0.5-18.3). Women and NF1 patients with lower educational levels were associated with poorer QoL scores. We identified itching and sleep troubles to influence NF1 patients' QoL negatively.
conclusionNF1 considerably influences the psychological well-being of NF1 patients. We observed that female and low-educated patients scored higher on the emotional dimension of the Skindex-29 and could, therefore, be more at risk of depression. We also pointed out some "minor symptoms" that negatively impact NF1 patients' QoL such, as itching and sleep troubles which doctors could treat if sought by doctors.
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