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Войти в исследования Journal of medical genetics · 2025
Identifying the unmet needs of patients with neurofibromatosis type 1 in Singapore.
СтатьяНазвание и аннотация: Перевод в очереди
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Lim Agnes, Chua Zi Yang, Loh Celestine, Suresh Priyadharshini D/O, Yuen Jeanette, Kartikeyan Manasadevi, Zewen Zhang, Chiang Jianbang, Koh Mark Jean Aan, Fong Nikki Wen Yan, Tan Ee Shien, Ngeow Joanne
Аннотация
BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with tumour predisposition, and patients often face neuropsychiatric and psychosocial challenges. This study aimed to identify unmet needs of NF1 patients in Singapore to enhance patient care and service delivery.
METHODS: 20 patients who were clinically or genetically diagnosed with NF1 were recruited for in-depth interviews. Interviews were transcribed verbatim and analysed using thematic analysis.
RESULTS: Five themes emerged from thematic analysis: (1) NF1 trajectory begins from childhood; (2) Coming to terms with body and self; (3) Perceived acceptance drives disclosure patterns; (4) Need for specialised NF1 care; (5) Building local awareness and connections. Six key unmet needs were identified, namely the need for: (1) Optimised multidisciplinary NF1 care; (2) Management of neurological symptoms; (3) Management of cutaneous lesions; (4) Financial coverage for NF1; (5) Early NF1 screening; (6) Local awareness and support groups.
CONCLUSION: Addressing these needs can lead to actionable steps for improving care and quality of life for NF1 patients in Singapore.
METHODS: 20 patients who were clinically or genetically diagnosed with NF1 were recruited for in-depth interviews. Interviews were transcribed verbatim and analysed using thematic analysis.
RESULTS: Five themes emerged from thematic analysis: (1) NF1 trajectory begins from childhood; (2) Coming to terms with body and self; (3) Perceived acceptance drives disclosure patterns; (4) Need for specialised NF1 care; (5) Building local awareness and connections. Six key unmet needs were identified, namely the need for: (1) Optimised multidisciplinary NF1 care; (2) Management of neurological symptoms; (3) Management of cutaneous lesions; (4) Financial coverage for NF1; (5) Early NF1 screening; (6) Local awareness and support groups.
CONCLUSION: Addressing these needs can lead to actionable steps for improving care and quality of life for NF1 patients in Singapore.