Update from the 2013 international neurofibromatosis conference

Plotkin, Scott R.; Albers, Anne C.; Babovic‐Vuksanovic, Dusica; Blakeley, Jaishri O.; Breakefield, Xandra O.; Dunn, Courtney M.; Evans, D. Gareth; Fisher, Michael J.; Friedman, Jan M.; Giovannini, Marco; Gutmann, David H.; Kalamaridès, Michel; McClatchey, Andrea I.; Messiaen, Ludwine; Morrison, Helen; Parkinson, David B.; Stemmer‐Rachamimov, Anat; Raamsdonk, Catherine D. Van; Riccardi, Vincent M.; Rosser, Tena; Schindeler, Aaron; Smith, Miriam J.; Stevenson, David A.; Ullrich, Nicole J.; Vaart, Thijs van der; Weiss, Brian; Widemann, Brigitte C.; Zhu, Yuan; Bakker, Annette; Lloyd, Alison C.

doi:10.1002/ajmg.a.36754

Cited by 17 publications

(12 citation statements)

References 40 publications

(41 reference statements)

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“…[43][44][45] The authors discussed an important role of merlin in neuronal cell types with regard to neuromorphogenesis, axon structure maintenance, and communication between axons and Schwann cells. Therefore, it is possible that NF2-related neuropathy has a multifactorial origin (as commented on by Morrison in the study by Plotkin et al 46 . Also, there may be a combination of several factors.…”

Section: Discussionmentioning

confidence: 99%

Muscle action potential scans and ultrasound imaging in neurofibromatosis type 2

et al. 2016

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Section: Discussionmentioning

confidence: 99%

Muscle action potential scans and ultrasound imaging in neurofibromatosis type 2

et al. 2016

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“…impact in the quality of life. Some speci c de cits have been reported to NF1: visual-spatial de cits [39], speech and language de cits, motor skill de cits [40], social skill de cits [5,41] and attentional de cits [8,42]. All may lead to learning disabilities and further emotional su ering.…”

Section: Nf1 and Emotionalmentioning

confidence: 99%

“…ese problems represent the most signi cant cause of lifetime morbidity associated with the disease [5,6]. Even though some phenotypic patterns have been suggested in the past, a more in-depth analysis reinforces the need to tailor the diagnosis and the treatment of these patients.…”

Section: Introductionmentioning

confidence: 99%

Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach

Moscoso¹,

Julien²,

Tanet³

et al. 2019

Case Reports in Psychiatry

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Introduction. Cognitive and behavioural problems associated with Neurofibromatosis type 1 (NF1) are common sources of distress and the reasons behind seeking help. Here we describe patients with NF1 or NF1-like phenotypes referred to a Tier 3 Child and Adolescent Psychiatry Department and highlight the benefits of a multidisciplinary assessment. Methods. Prospective data were gathered from NF1 patients aged 7–15 years, referred by the NF1 Referral Centre due to additional difficulties either in management or diagnosis. For the selected cases, we performed a psychiatric assessment, a tailored neuropsychological evaluation based on clinical demands and history, broad speech and motor skills evaluations if there were concerns regarding language, motor abilities and/or learning difficulties and autism specific evaluations, if clinically relevant. No exclusion criteria were applied. Results. Complex NF1 cases represented only 5% of the patients (11/224). Assessments revealed the complexity of NF1 phenotype and a variety of problems including learning difficulties, emotional problems and autism spectrum disorders. Specific evaluations of language, motor, attentional and neurovisual domains were essential to guide tailored intervention strategies. Conclusions. In terms of clinical implications, the heterogeneity of NF1 phenotypical manifestations needs to be considered when developing assessment and remediation approaches for children with complex NF1.

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“…In accordance with the literature, intractable pain is the major surgical indication because chronic pain is a common occurrence in patients affected by schwannomatosis. 7,8 Due to the tumor location and size, we opted for a minimally invasive approach using retroperitoneoscopy, with the collaboration of the urologic team. The technique used was as described by Gaur 9,10 with some modifications.…”

Section: Case Reportmentioning

confidence: 99%

Retroperitoneoscopic Resection of a Lumbosacral Plexus Schwannoma: Case Report and Literature Review

Freitas

Figueiredo

Carrerette

et al. 2017

J Neurol Surg A Cent Eur Neurosurg

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Update from the 2013 international neurofibromatosis conference

Cited by 17 publications

References 40 publications

Muscle action potential scans and ultrasound imaging in neurofibromatosis type 2

Muscle action potential scans and ultrasound imaging in neurofibromatosis type 2

Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach

Retroperitoneoscopic Resection of a Lumbosacral Plexus Schwannoma: Case Report and Literature Review

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