Management and Treatment of “Complex Neurofibromatosis 1”

Ferner, Robin E; Huson, Susan M.

doi:10.1007/978-3-642-32864-0_3

Cited by 5 publications

(6 citation statements)

References 23 publications

(28 reference statements)

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“…The optimum strategy could be a NF1 adult center of expertise closely linked to the NF1 pediatric service, which provides coordinated care to all areas and facilitates links with local clinicians . A useful model is the Nationally Commissioned ‘Complex NF1’ Service in England that encompasses centralized care, with a hub and spoke approach that enables outlying clinics to manage patients with less severe disease; patients move between complex and local services as their clinical needs change . This ensures equal access to care, the avoidance of diagnostic and treatment delays, and unwarranted treatments .…”

Section: Discussionmentioning

confidence: 99%

“…A useful model is the Nationally Commissioned ‘Complex NF1’ Service in England that encompasses centralized care, with a hub and spoke approach that enables outlying clinics to manage patients with less severe disease; patients move between complex and local services as their clinical needs change . This ensures equal access to care, the avoidance of diagnostic and treatment delays, and unwarranted treatments . A useful parallel strategy could be an NF1 Genetic Register, where patients consent to health screening recall .…”

Section: Discussionmentioning

confidence: 99%

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Uptake of health monitoring and disease self‐management in Australian adults with neurofibromatosis type 1: strategies to improve care

et al. 2015

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Lifelong health monitoring is recommended in neurofibromatosis type 1 (NF1) because of the progressive and unpredictable range of disabling and potentially life-threatening symptoms that arise. In Australia, strategies for NF1 health surveillance are less well developed for adults than they are for children, resulting in inequalities between pediatric and adult care. The aims of this study were to determine the uptake of health monitoring and capacity of adults with NF1 to self-manage their health. Australian adults with NF1 (n = 94, 18-40 years) participated in a semi-structured interview. Almost half reported no regular health monitoring. Thematic analysis of interviews identified four main themes as to why: (i) did not know where to seek care, (ii) unaware of the need for regular monitoring, (iii) futility of health monitoring as nothing can be done for NF1, and (iv) feeling healthy, therefore monitoring unnecessary. Overall, there were low levels of patient activation, indicating that adults with NF1 lacked knowledge and confidence to manage their health and health care. Findings are discussed in the context of service provision for adults with NF1 in New South Wales, Australia.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Uptake of health monitoring and disease self‐management in Australian adults with neurofibromatosis type 1: strategies to improve care

et al. 2015

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“…The disease results from a germline mutation in the NF1 gene (17q11.2). Neurofibromas are the most frequent cutaneous neural neoplasms 1 . In NF1, most cutaneous neurofibromas do not become apparent until puberty and it has been estimated that 84 % of patients have at least one neurofibroma by the age of 20 2 .…”

Section: Introductionmentioning

confidence: 99%

“…These cells are arranged in sheaths of fusiform cells. The use of imaging techniques is essential to assess the extent and progression of subcutaneous and plexiform neurofibromas 1 . Cutaneous ultrasound is a simple and harmless technique that is extremely useful in the study of subcutaneous tumors in children.…”

Section: Introductionmentioning

confidence: 99%

Clinical and Sonographic Classification of Neurofibromas in Children with Neurofibromatosis Type 1 – A Cluster Analysis

et al. 2021

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Purpose High-frequency ultrasound allows the accurate identification of neurofibromas in neurofibromatosis type 1 (NF1). This study aimed to analyze the ultrasound features of neurofibromas in children with NF1, to establish a classification based on the clinical and sonographic patterns of the different types of neurofibromas, and to evaluate the interobserver correlation coefficient (κ) of this classification. Materials and Methods In this prospective, single referral center observational study, clinical and ultrasound findings of neurofibromas in children diagnosed with NF 1 were analyzed. To identify the ultrasound patterns, a cluster analysis allowing the inclusion of both clinical and ultrasound data was designed. The κ coefficient was calculated using 9 external evaluators. Results 265 ultrasound scans were performed on a total of 242 neurofibromas from 108 children diagnosed with NF1. Cluster analysis allowed the identification of 9 patterns (Snedecorʼs F, P < 0.001) classified as “classic” cutaneous neurofibroma, blue-red neurofibroma, pseudoatrophic neurofibroma, nodular subcutaneous neurofibroma, diffuse subcutaneous neurofibroma, congenital cutaneous neurofibroma, congenital plexiform neurofibroma, congenital diffuse and plexiform neurofibroma, and subfascial neurofibroma. The κ coefficient of the interobserver ratings was 0.82. Conclusion Patterns identified in the cluster analysis allow neurofibromas to be classified with a very high interobserver correlation.

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“…With a prevalence of 1:3000, NF1 is 1 of the more common rare diseases. Fifty percent of NF1 cases are inherited from a parent and 50% are due to de novo mutations in the NF1 gene (2,3). The diagnosis can be identified clinically and the diagnostic features develop during childhood.…”

mentioning

confidence: 99%

Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1

Ejerskov

Krogh

Østergaard

et al. 2018

J. pediatr. gastroenterol. nutr.

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Management and Treatment of “Complex Neurofibromatosis 1”

Cited by 5 publications

References 23 publications

Uptake of health monitoring and disease self‐management in Australian adults with neurofibromatosis type 1: strategies to improve care

Uptake of health monitoring and disease self‐management in Australian adults with neurofibromatosis type 1: strategies to improve care

Clinical and Sonographic Classification of Neurofibromas in Children with Neurofibromatosis Type 1 – A Cluster Analysis

Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1

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