Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience

Kokkinou, Eleftheria; Roka, Kleoniki; Alexopoulos, A.; Tsina, Efthymia; Nikas, Ioannis; Krallis, Panagiotis; Thanopoulou, I; Nasi, L.; Makrygianni, Evanthia A.; Tsoutsou, Eirini; Kosma, Konstantina; Tsipi, Maria; Tzetis, Maria; Frysira, Helen; Kattamis, Antonis; Pons, Roser

doi:10.1080/00325481.2019.1659708

Cited by 13 publications

(15 citation statements)

References 38 publications

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“…But there are more factors to consider. Similar to the observation in our cohort, a significant number of children with NF1 and OPG remain asymptomatic and do not require any treatment throughout their entire clinical course ( 16 ). A study by Listernick et al in 1989 demonstrated that, if all children with NF1 undergo screening neuroimaging, 15% of them will have radiographic evidence of OPG with only half of these children developing symptoms or signs related to the OPG ( 59 ).…”

Section: Discussionsupporting

confidence: 86%

“…Other sequalae of OPG may include endocrinological deficits as well as primary or secondary neuropsychological limitations. Because of the varying features and clinical heterogeneity inherent to this condition, advocacy for a multidisciplinary approach to care and complex decision making has increased recently ( 8 , 15 , 16 ). However, the number of specialists involved may interfere with coordinated information exchange, referrals and follow up, thus posing dilemmas in the diagnosis and management of these patients.…”

Section: Introductionmentioning

confidence: 99%

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Optic Pathway Glioma in Children with Neurofibromatosis Type 1: A Multidisciplinary Entity, Posing Dilemmas in Diagnosis and Management Multidisciplinary Management of Optic Pathway Glioma in Children with Neurofibromatosis Type 1

et al. 2022

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IntroductionNeurofibromatosis type 1 (NF1) has an incidence of 1 in 2,000 to 3,000 individuals and in 15% is associated with optic pathway glioma (OPG). Given the variability in clinical presentation and related morbidity, a multidisciplinary approach for diagnosis and management of children with NF1 and OPG is required, but often lacks coordination and regular information exchange. Herein we summarize our experience and describe the care pathways/network provided by a multidisciplinary team. The role of the distinct team members is elucidated as well as the care amendments made over time.MethodsWe performed a retrospective single-center observational study, including children treated at our institution between 1990 and 2021. Inclusion criteria were clinical diagnosis of NF1, radiographic and/or histopathological diagnosis of OPG and age below 18 years. Patients being treated elsewhere were excluded from the study. Data was abstracted from each child’s health record using a standardized data collection form. Characteristics of children with NF1 and OPG were described using means (SD) and percentages. Outcomes were determined using Kaplan-Meier estimates.ResultsFrom 1990 to 2021, 1,337 children were followed in our institution. Of those, 195 were diagnosed with OPG (14.6%), including 94 (48.21%) females and 101 (51.79%) males. Comprehensive data were available in 150 patients. The mean (SD) age at diagnosis was 5.31(4.08) years (range: 0.8–17.04 years). Sixty-two (41.3%) patients remained stable and did not undergo treatment, whereas 88 (58.7%) patients required at least one treatment. The mean (SD) duration of follow up was 8.14 (5.46) years (range: 0.1–25.9 years; median 6.8 years). Overall survival was of 23.6 years (±1.08), comprising 5 deaths. A dedicated NF clinic, including pediatricians and a nurse, provides regular follow up and plays a central role in the management of children with NF1, identifying those at risk of OPG, coordinating referrals to Neuroradiology and other specialists as indicated. All children are assessed annually by Ophthalmology. Comprehensive care was provided by a multidisciplinary team consisting of Dermatology, Genetics, Neuro-oncology, Neuroradiology, Neurosurgery, Ophthalmology and Pediatrics.ConclusionsThe care of children with NF1 and OPG is optimized with a multidisciplinary team approach, coordinated by a central specialty clinic.

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Section: Discussionsupporting

confidence: 86%

Section: Introductionmentioning

confidence: 99%

Optic Pathway Glioma in Children with Neurofibromatosis Type 1: A Multidisciplinary Entity, Posing Dilemmas in Diagnosis and Management Multidisciplinary Management of Optic Pathway Glioma in Children with Neurofibromatosis Type 1

et al. 2022

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“…6,9 The patient has also been followed at the multidisciplinary NF clinic, according to NF1 age-adjusted surveillance recommendations. 2,11 The delayed diagnosis of SCD in our patient is attributed to the lack of proper maternal and pediatric follow-up. The Thalassemia Prevention Program in Greece focuses on prenatal identification of affected fetuses.…”

Section: E T T E R T O T H E E D I T O R Ischemic Stroke In a Pediatr...mentioning

confidence: 86%

Ischemic stroke in a pediatric patient with very rare coexistence of sickle‐cell/β‐thalassemia and neurofibromatosis type 1

Roka

Solomou

Glentis

et al. 2023

Pediatric Blood & Cancer

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“…A recent report has stressed the importance of MDT work in neurocutaneous syndromes, and especially in NF1 syndrome, and emphasized the challenges of close surveillance of potential clinical complications even in the given multidisciplinary outpatient clinic [14].…”

Section: Discussionmentioning

confidence: 99%

Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome

Toledano‐Alhadef

Mautner

Gugel³

et al. 2020

Childs Nerv Syst

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Purpose Neurofibromatosis type 1 (NF1) syndrome is a common rare/orphan disease that manifests itself early in the paediatric age. It imposes a considerable burden upon patients as well as on caregivers. Decisions regarding optimal care often rely on several medical instances working together as a team. Methods The authors reviewed the literature and supplied a description of their own clinical work at the NF1 centres. Results The experience of a multidisciplinary teamwork of three NF centres was summarized in order to enhance awareness for possible multidisciplinary ways of delivery of health and health-related aspects of care to NF1 patients. Both population-focused research centres and family-focused centres were reviewed. Conclusions Chronic rare diseases that start in the paediatric age mandate long-term follow-up most often by several disciplines. NF1 syndrome is an example of a multidisciplinary centre in order to enhance the quality of care.

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Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience

Cited by 13 publications

References 38 publications

Optic Pathway Glioma in Children with Neurofibromatosis Type 1: A Multidisciplinary Entity, Posing Dilemmas in Diagnosis and Management Multidisciplinary Management of Optic Pathway Glioma in Children with Neurofibromatosis Type 1

Optic Pathway Glioma in Children with Neurofibromatosis Type 1: A Multidisciplinary Entity, Posing Dilemmas in Diagnosis and Management Multidisciplinary Management of Optic Pathway Glioma in Children with Neurofibromatosis Type 1

Ischemic stroke in a pediatric patient with very rare coexistence of sickle‐cell/β‐thalassemia and neurofibromatosis type 1

Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome

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