The management of neurofibromatosis type 1 (NF1) in children and adolescents

References

• Plotkin SR, Messiaen L, Legius E, et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genet Med. 2022 Sep;24(9):1967–1977.
   PubMed Web of Science ®Google Scholar
• Lee TJ, Chopra M, Kim RH, et al. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023 Sep 14;18(1):292. doi: 10.1186/s13023-023-02911-2
   PubMed Web of Science ®Google Scholar
• National institutes of health consensus development conference statement: neurofibromatosis. Bethesda, MD., USA, July 13-15, 1987. Neurofibromatosis. 1988;1(3):172–178.
   PubMedGoogle Scholar
• Legius E, Messiaen L, Wolkenstein P, Huson SM, Evans DG, Plotkin SR, International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), et al. Revised diagnostic criteria for neurofibromatosis type 1 and legius syndrome: an international consensus recommendation. Genet Med. 2021 Aug;238:1506–1513. doi: 10.1038/s41436-021-01170-5
   PubMed Web of Science ®Google Scholar
• DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000 Mar;105(3):608–614. doi: 10.1542/peds.105.3.608
   PubMed Web of Science ®Google Scholar
• Nunley KS, Gao F, Albers AC, et al. Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. Arch Dermatol. 2009 Aug;145(8):883–7.
   PubMedGoogle Scholar
• de Blank PMK, Fisher MJ, Liu GT, et al. Optic pathway gliomas in neurofibromatosis type 1: an update: surveillance, treatment indications, and biomarkers of vision. J Neuroophthalmol. 2017 Sep;Suppl 37(Suppl 1):S23–S32. doi: 10.1097/WNO.0000000000000550
   Google Scholar
• Listernick R, Louis DN, Packer RJ, et al. Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 optic pathway glioma task force. Ann Neurol. 1997 Feb;41(2):143.
   PubMed Web of Science ®Google Scholar
• Miller DT, Freedenberg D, Schorry E, et al. Council of genetics: American College of Medical Genetics and Genomics. Health supervision for children with neurofibromatosis type 1. Pediatrics. 2019 May;143(5):e20190660. doi: 10.1542/peds.2019-0660
   PubMed Web of Science ®Google Scholar
• Gutmann DH, Ferner RE, Listernick RH, et al. Neurofibromatosis type 1. Nat Rev Dis Primers. 2017 Feb 23;3(1):17004. doi: 10.1038/nrdp.2017.4
   PubMedGoogle Scholar
• Napolitano F, Dell ‘Aquila M, Terracciano C, et al. Genotype-phenotype correlations in neurofibromatosis type 1: identification of novel and recurrent NF1 gene variants and correlations with neurocognitive phenotype. Genes (Basel). 2022 Jun 23;13(7):1130. doi: 10.3390/genes13071130
   PubMed Web of Science ®Google Scholar
• Listernick R, Mancini AJ, Charrow J. Segmental neurofibromatosis in childhood. Am J Med Genet A. 2003 Aug 30;121A(2):132–5. doi: 10.1002/ajmg.a.20183
   PubMed Web of Science ®Google Scholar
• Tinschert S, Naumann I, Stegmann E, et al. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet. 2000 Jun;8(6):455–9.
   PubMed Web of Science ®Google Scholar
• Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15(6):541–55. doi: 10.1002/1098-1004(200006)15:6<541:AID-HUMU6>3.0.CO;2-N
   PubMed Web of Science ®Google Scholar
• Rojnueangnit K, Xie J, Gomes A, et al. High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation. Hum Mutat. 2015 Nov;36(11):1052–1063. doi: 10.1002/humu.22832
   PubMed Web of Science ®Google Scholar
• Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007 Jan;80(1):140–51.
   PubMed Web of Science ®Google Scholar
• De Raedt T, Brems H, Wolkenstein P, et al. Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet. 2003 May;72(5):1288–92.
   PubMed Web of Science ®Google Scholar
• Kluwe L, Nguyen R, Vogt J, et al. Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions. Genes Chromosomes Cancer. 2012 May;51(5):447–51.
   PubMed Web of Science ®Google Scholar
• Pacot L, Vidaud D, Sabbagh A, et al. Members of the NF France network, Wolkenstein P, pasmant E. Severe phenotype in patients with large deletions of NF1. Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963
   PubMed Web of Science ®Google Scholar
• Koczkowska M, Chen Y, Callens T, et al. Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848. Am J Hum Genetic. 2018 Jan 4;102(1):69–87. doi: 10.1016/j.ajhg.2017.12.001
   PubMed Web of Science ®Google Scholar
• Koczkowska M, Callens T, Chen Y, et al. Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 Jan;41(1):299–315.
   PubMed Web of Science ®Google Scholar
• Guo X, Pan Y, Gutmann DH. Genetic and genomic alterations differentially dictate low-grade glioma growth through cancer stem cell–specific chemokine recruitment of T cells and microglia. Neuro Oncol. 2019 Oct;21(10):1250–1262. doi: 10.1093/neuonc/noz080
   PubMed Web of Science ®Google Scholar
• Anastasaki C, Wegscheid ML, Hartigan K, et al. Human iPSC-derived neurons and cerebral organoids establish differential effects of germline NF1 gene mutations. Stem Cell Rep. 2020 Apr;14(4):541–550.
   PubMed Web of Science ®Google Scholar
• Morris SM, Gupta A, Kim S, et al. Predictive modeling for clinical features associated with neurofibromatosis type 1. Neurol Clin Pract. 2021 Dec;11(6):497–505.
   PubMedGoogle Scholar
• Lalor L, Davies OMT, Basel D, et al. Café au lait spots: when and how to pursue their genetic origins. Clin Dermatol. 2020 Jul;38(4):421–431.
   PubMed Web of Science ®Google Scholar
• Miraglia E, Moliterni E, Iacovino C, et al. Cutaneous manifestations in neurofibromatosis type 1. Clin Ter. 2020 Sep;171(5):e371–e377.
   PubMed Web of Science ®Google Scholar
• Ragge NK, Falk RE, Cohen WE, et al. Images of Lisch nodules across the spectrum. Eye (Lond). 1993;7(Pt 1):95–101. doi: 10.1038/eye.1993.20
   PubMedGoogle Scholar
• Kurosawa A, Kurosawa H. Ovoid bodies in choroidal neurofibromatosis. Arch Ophthalmol. 1982 Dec;100(12):1939–41. doi: 10.1001/archopht.1982.01030040919010
   PubMedGoogle Scholar
• Parrozzani R, Clementi M, Frizziero L, et al. In vivo detection of choroidal abnormalities related to NF1: feasibility and comparison with standard nih diagnostic criteria in pediatric patients. Invest Ophthalmol Vis Sci. 2015 Sep;56(10):6036–42. doi: 10.1167/iovs.14-16053
   PubMed Web of Science ®Google Scholar
• Chilibeck CM, Shah S, Russell HC, et al. The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1. Ophthalmic Genet. 2021 Jun;42(3):223–229.
   PubMed Web of Science ®Google Scholar
• Guillamo JS, Créange A, Kalifa C, et al. Prognostic factors of CNS tumours in neurofibromatosis 1 (NF1): a retrospective study of 104 patients. Brain. 2003 Jan;126(Pt 1):152–160.
   PubMed Web of Science ®Google Scholar
• Listernick R, Charrow J, Greenwald MJ, et al. Optic gliomas in children with neurofibromatosis type 1. J Pediatr. 1989 May;114(5):788–92.
   PubMed Web of Science ®Google Scholar
• Listernick R, Charrow J, Greenwald M, et al. Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr. 1994 Jul;125(1):63–6.
   PubMed Web of Science ®Google Scholar
• Listernick R, Ferner RE, Piersall L, et al. Late-onset optic pathway tumors in children with neurofibromatosis 1. Neurology. 2004 Nov 23;63(10):1944–6. doi: 10.1212/01.WNL.0000144341.16830.01
   PubMed Web of Science ®Google Scholar
• Listernick R, Ferner RE, Liu GT, et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007 Mar;61(3):189–98.
   PubMed Web of Science ®Google Scholar
• Fisher MJ, Avery RA, Allen JC, et al. Functional outcome measures for NF1-associated optic pathway glioma clinical trials. Neurology. 2013 Nov 19;81(21 Suppl 1):S15–24. doi: 10.1212/01.wnl.0000435745.95155.b8
   PubMed Web of Science ®Google Scholar
• Cambiaso P, Galassi S, Palmiero M, et al. Growth hormone excess in children with neurofibromatosis type-1 and optic glioma. Am J Med Genet A. 2017 Sep;173(9):2353–2358.
   PubMed Web of Science ®Google Scholar
• Listernick R, Charrow J, Greenwald M. Emergence of optic pathway gliomas in children with neurofibromatosis type 1 after normal neuroimaging results. J Pediatr. 1992 Oct;121(4):584–7. doi: 10.1016/S0022-3476(05)81151-5
   PubMed Web of Science ®Google Scholar
• Fisher MJ, Loguidice M, Gutmann DH, et al. Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. Neuro Oncol. 2012 Jun;14(6):790–7. doi: 10.1093/neuonc/nos076
   PubMed Web of Science ®Google Scholar
• Thirunavu VM, Mohammad LM, Kandula V, et al. Vision outcomes for pediatric patients with optic pathway gliomas associated with neurofibromatosis type I: a systematic review of the clinical evidence. J Pediatr Hematol Oncol. 2021 May 1;43(4):135–143. doi: 10.1097/MPH.0000000000002060
   PubMed Web of Science ®Google Scholar
• Abadin SS, Zoellner NL, Schaeffer M, et al. Racial/Ethnic differences in pediatric brain tumor diagnoses in patients with neurofibromatosis type 1. J Pediatr. 2015 Sep;167(3):613–20.e1–2.
   Web of Science ®Google Scholar
• Johnson KJ, Zoellner NL, Gutmann DH. Peri-gestational risk factors for pediatric brain tumors in neurofibromatosis type 1. Cancer Epidemiol. 2016 Jun;42:53–9. doi: 10.1016/j.canep.2016.03.005
   PubMed Web of Science ®Google Scholar
• Porcelli B, Zoellner NL, Abadin SS, et al. Associations between allergic conditions and pediatric brain tumors in neurofibromatosis type 1. Fam Cancer. 2016 Apr;15(2):301–8.
   PubMed Web of Science ®Google Scholar
• Fisher MJ, Loguidice M, Gutmann DH, et al. Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma. Ann Neurol. 2014 May;75(5):799–800.
   PubMed Web of Science ®Google Scholar
• Mahdi J, Shah AC, Sato A, et al. A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1. Neurology. 2017 Apr 18;88(16):1584–1589. doi: 10.1212/WNL.0000000000003881
   PubMed Web of Science ®Google Scholar
• Ullrich NJ, Raja AI, Irons MB, et al. Brainstem lesions in neurofibromatosis type 1. Neurosurgery. 2007 Oct;61(4):762–766. discussion 766-7. doi: 10.1227/01.NEU.0000298904.63635.2D
   PubMed Web of Science ®Google Scholar
• Mahdi J, Goyal MS, Griffith J, et al. Nonoptic pathway tumors in children with neurofibromatosis type 1. Neurology. 1059 [2020 Aug 25];95(8):e1052–e. doi: 10.1212/WNL.0000000000009458
   PubMed Web of Science ®Google Scholar
• Sellmer L, Farschtschi S, Marangoni M, et al. Non-optic glioma in adults and children with neurofibromatosis 1. Orphanet J Rare Dis. 2017 Feb 15;12(1):34. doi: 10.1186/s13023-017-0588-2
   PubMedGoogle Scholar
• Byrne S, Connor S, Lascelles K, et al. Clinical presentation and prognostic indicators in 100 adults and children with neurofibromatosis 1 associated non-optic pathway brain gliomas. J Neurooncol. 2017 Jul;133(3):609–614.
   PubMed Web of Science ®Google Scholar
• Gutmann DH, Rasmussen SA, Wolkenstein P, et al. Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1). Neurology. 2002 Sep 10;59(5):759–61. doi: 10.1212/WNL.59.5.759
   PubMed Web of Science ®Google Scholar
• Griffith JL, Morris SM, Mahdi J, et al. Increased prevalence of brain tumors classified as T2 hyperintensities in neurofibromatosis 1. Neurol Clin Pract. 2018 Aug;8(4):283–291.
   PubMedGoogle Scholar
• Poplausky D, Young JN, Tai H, et al. Dermatologic manifestations of neurofibromatosis type 1 and emerging treatments. Cancers (Basel). 2023 May 16;15(10):2770. doi: 10.3390/cancers15102770
   PubMed Web of Science ®Google Scholar
• Waggoner DJ, Towbin J, Gottesman G, et al. Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. Am J Med Genet. 2000 May 15;92(2):132–5. doi: 10.1002/(SICI)1096-8628(20000515)92:2<132:AID-AJMG10>3.0.CO;2-6
   PubMed Web of Science ®Google Scholar
• Fisher MJ, Blakeley JO, Weiss BD, et al. Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol. 2022 Nov 2;24(11):1827–1844. doi: 10.1093/neuonc/noac146
   PubMed Web of Science ®Google Scholar
• Miettinen MM, Antonescu CR, Fletcher CDM, et al. Histopathological evaluation of atypical neurofibromatous tumours and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis type 1 – a consensus overview. Hum Pathol. 2017 Sep;67:1–10.
   PubMed Web of Science ®Google Scholar
• Uusitalo E, Leppavirta J, Koffert A, et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol. 2015 Mar;135(3):904–906.
   PubMed Web of Science ®Google Scholar
• Prudner BC, Ball T, Rathore R, et al. Diagnosis and management of malignant peripheral nerve tumors: Current practice and future perspectives. Neurooncol Adv. 2019 Nov 14;2(Suppl 1):i40–i49. doi: 10.1093/noajnl/vdz047
   PubMedGoogle Scholar
• Vogel AC, Gutmann DH, Morris SM. Neurodevelopmental disorders in children with neurofibromatosis type 1. Dev Med Child Neurol. 2017 Nov;59(11):1112–1116. doi: 10.1111/dmcn.13526
   PubMed Web of Science ®Google Scholar
• Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 2005 Oct 11;65(7):1037–44. doi: 10.1212/01.wnl.0000179303.72345.ce
   PubMed Web of Science ®Google Scholar
• Arnold SS, Payne JM, McArthur G, et al. Profiling the word reading abilities of school-age children with neurofibromatosis type 1. J Int Neuropsychol Soc. 2021 May;27(5):484–496.
   PubMed Web of Science ®Google Scholar
• Vernet M, Jover M, Bellocchi S, et al. Visual-processing deficits in children with neurofibromatosis type 1: a clinical marker of reading difficulties. Eur J Paediatr Neurol. 2022 May;38:25–32.
   PubMed Web of Science ®Google Scholar
• Beaussart-Corbat ML, Barbarot S, Farges D, et al. Executive functions in preschool-aged children with neurofibromatosis type 1: value for early assessment. J Clin Exp Neuropsychol. 2021 Mar;43(2):163–175.
   PubMed Web of Science ®Google Scholar
• Lidzba K, Granström S, Lindenau J, et al. The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1. Dev Med Child Neurol. 2012 Oct;54(10):892–7.
   PubMed Web of Science ®Google Scholar
• Haebich KM, Dao DP, Pride NA, et al. The mediating role of ADHD symptoms between executive function and social skills in children with neurofibromatosis type 1. Child Neuropsychol. 2022 Apr;28(3):318–336.
   PubMed Web of Science ®Google Scholar
• Payne JM, Haebich KM, MacKenzie R, et al. Cognition, ADHD symptoms, and functional impairment in children and adolescents with neurofibromatosis type 1. J Atten Disord. 2021 Jun;25(8):1177–1186.
   PubMed Web of Science ®Google Scholar
• Stavinoha PL, Solesbee C, Swearer SM, et al. Risk factors for bullying victimization in children with neurofibromatosis type 1 (NF1). Children (Basel). 2021 Feb 15;8(2):145. doi: 10.3390/children8020145
   PubMed Web of Science ®Google Scholar
• Barton B, North K. Social skills of children with neurofibromatosis type 1. Dev Med Child Neurol. 2004 Aug;46(8):553–63. doi: 10.1017/S0012162204000921
   PubMed Web of Science ®Google Scholar
• Noll RB, Reiter-Purtill J, Moore BD, et al. Social, emotional, and behavioral functioning of children with NF1. Am J Med Genet A. 2007 Oct 1;143A(19):2261–73. doi: 10.1002/ajmg.a.31923
   PubMed Web of Science ®Google Scholar
• Payne JM, Porter M, Pride NA, et al. Theory of mind in children with neurofibromatosis type 1. Neuropsychology. 2016 May;30(4):439–48.
   PubMed Web of Science ®Google Scholar
• Lewis AK, Porter MA, Williams TA, et al. Attention to faces in social context in children with neurofibromatosis type 1. Dev Med Child Neurol. 2019 Feb;61(2):174–180.
   PubMed Web of Science ®Google Scholar
• Garg S, Green J, Leadbitter K, et al. Neurofibromatosis type 1 and autism spectrum disorder. Pediatrics. 2013 Dec;132(6):e1642–8.
   PubMed Web of Science ®Google Scholar
• Morris SM, Acosta MT, Garg S, et al. Disease burden and symptom structure of autism in neurofibromatosis type 1: a study of the international NF1-ASD consortium team (INFACT). JAMA Psychiatry. 2016 Dec 1;73(12):1276–1284. doi: 10.1001/jamapsychiatry.2016.2600
   PubMed Web of Science ®Google Scholar
• Plasschaert E, Descheemaeker MJ, Van Eylen L, et al. Prevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet. 2015 Jan;168B(1):72–80.
   PubMedGoogle Scholar
• Janusz JA, Klein-Tasman BP, Payne JM, et al. REiNS international collaboration. Recommendations for social skills end points for clinical trials in neurofibromatosis type 1. Neurology. 2021 Aug 17;97(7 Suppl 1):S73–S80. doi: 10.1212/WNL.0000000000012422
   PubMed Web of Science ®Google Scholar
• Wessel LE, Gao F, Gutmann DH, et al. Longitudinal analysis of developmental delays in children with neurofibromatosis type 1. J Child Neurol. 2013 Dec;28(12):1689–93.
   PubMed Web of Science ®Google Scholar
• Toro G, Santoro C, Ambrosio D, et al. Natural history of scoliosis in children with NF1: an observation study. Healthcare. 2021 Jul 13;9(7):881.10.3390/healthcare9070881
   Web of Science ®Google Scholar
• Khong PL, Goh WHS, Wong VCN, et al. MR imaging of spinal tumors in children with neurofibromatosis 1. AJR Am J Roentgenol. 2003 Feb;180(2):413–417.
   PubMed Web of Science ®Google Scholar
• Ramachandran M, Tsirikos AI, Lee J, et al. Whole-spine magnetic resonance imaging in patients with neurofibromatosis type 1 and spinal deformity. J Spinal Disord Tech. 2004 Dec;17(6):483–91.
   PubMedGoogle Scholar
• Elefteriou F, Kolanczyk M, Schindeler A, et al. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A. 2009 Oct;149A(10):2327–38.
   PubMed Web of Science ®Google Scholar
• Brekelmans C, Hollants S, De Groote C, et al. Neurofibromatosis type 1-related pseudarthrosis: beyond the pseudarthrosis site. Hum Mutat. 2019 Oct;40(10):1760–1767.
   PubMed Web of Science ®Google Scholar
• Chauvel-Picard J, Lion-Francois L, Beuriat PA, et al. Craniofacial bone alterations in patients with neurofibromatosis type 1. Childs Nerv Syst. 2020 Oct;36(10):2391–2399.
   PubMed Web of Science ®Google Scholar
• Lehman LL, Ullrich NJ. Cerebral vasculopathy in children with neurofibromatosis type 1. Cancers (Basel). 2023 Oct 23;15(20):5111. doi: 10.3390/cancers15205111
   PubMed Web of Science ®Google Scholar
• Licis AK, Vallorani A, Gao F, et al. Prevalence of sleep disturbances in children with neurofibromatosis type 1. J Child Neurol. 2013 Nov;28(11):1400–1405.
   PubMed Web of Science ®Google Scholar
• Ejerskov C, Krogh K, Ostergaard JR, et al. Gastrointestinal symptoms in children and adolescents with neurofibromatosis type 1. J Pediatr Gastroenterol Nutr. 2018 Jun;66(6):872–875.
   PubMed Web of Science ®Google Scholar
• Carton C, Evans DG, Blanco I, et al. ERN GENTURIS NF1 tumour management guideline team. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. EClinicalMedicine. 2023 Jan;56:101818.
   PubMedGoogle Scholar
• Lipkin PH, Macias MM, Norwood KW. Council on children with disabilities, section on developmental and behavioral pediatrics. Promoting optimal development: identifying infants and young children with developmental disorders through developmental surveillance and screening. Pediatrics. 2020 Jan;145(1):e20193449. doi: 10.1542/peds.2019-3449
   PubMed Web of Science ®Google Scholar
• Soucy EA, Wessel LE, Gao F, et al. A pilot study for evaluation of hypotonia in children with neurofibromatosis type 1. J Child Neurol. 2015 Mar;30(3):382–5.
   PubMed Web of Science ®Google Scholar
• Wessel LE, Albers AC, Gutmann DH, et al. The association between hypotonia and brain tumors in children with neurofibromatosis type 1. J Child Neurol. 2013 Dec;28(12):1664–7.
   PubMed Web of Science ®Google Scholar
• King A, Listernick R, Charrow J, et al. Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome. Am J Med Genet A. 2003 Oct 1;122A(2):95–9. doi: 10.1002/ajmg.a.20211
   PubMed Web of Science ®Google Scholar
• Packer RJ, Ater J, Allen J, et al. Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. J Neurosurg. 1997 May;86(5):747–54.
   PubMed Web of Science ®Google Scholar
• Ater JL, Xia C, Mazewski CM, et al. Nonrandomized comparison of neurofibromatosis type 1 and non-neurofibromatosis type 1 children who received carboplatin and vincristine for progressive low-grade glioma: a report from the children’s oncology group. Cancer. 2016 Jun 15;122(12):1928–1936. doi: 10.1002/cncr.29987
   PubMed Web of Science ®Google Scholar
• Rakotonjanahary J, Gravier N, Lambron J, et al. Long-term visual acuity in patients with optic pathway glioma treated during childhood with up-front BB-SFOP chemotherapy-analysis of a French pediatric historical cohort. PloS One. 2019 Mar 8;14(3):e0212107. doi: 10.1371/journal.pone.0212107
   PubMed Web of Science ®Google Scholar
• Kotch C, Avery R, Getz KD, et al. Risk factors for treatment-refractory and relapsed optic pathway glioma in children with neurofibromatosis type 1. Neuro Oncol. 2022 Aug 1;24(8):1377–1386. doi: 10.1093/neuonc/noac013
   PubMed Web of Science ®Google Scholar
• Luyster R, Gotham K, Guthrie W, et al. The Autism Diagnostic Observation Schedule-toddler module: a new module of a standardized diagnostic measure for autism spectrum disorders. J Autism Dev Disord. 2009 Sep;39(9):1305–1320.
   PubMed Web of Science ®Google Scholar
• Chlebowski C, Green JA, Barton ML, et al. Using the childhood autism rating scale to diagnose autism spectrum disorders. J Autism Dev Disord. 2010 Jul;40(7):787–99.
   PubMed Web of Science ®Google Scholar
• Hyman SL, Levy SE, Myers SM. COUNCIL on CHILDREN with DISABILITIES, SECTION on DEVELOPMENTAL and BEHAVIORAL PEDIATRICS. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020 Jan;145(1):e20193447. doi: 10.1542/peds.2019-3447
   PubMed Web of Science ®Google Scholar
• Wolraich ML, Hagan JF Jr, Allan C, et al. Subcommittee on children and adolescents with attention-deficit/hyperactive disorder. Clinical practice guideline for the diagnosis, evaluation, and treatment of attention-deficit/Hyperactivity disorder in children and adolescents. Pediatrics. 2019 Oct;144(4):e20192528.
   PubMed Web of Science ®Google Scholar
• Moscoso A, Julien A, Tanet A, et al. Clinical management of children and adolescents with neurofibromatosis type 1 like phenotypes and complex behavioural manifestations: a multidisciplinary and dimensional approach. Case Rep Psychiatry. 2019 Dec 31;2019:1–12.
   Google Scholar
• Mautner VF, Kluwe L, Thakker SD, et al. Treatment of ADHD in neurofibromatosis type 1. Dev Med Child Neurol. 2002 Mar;44(3):164–70.
   PubMed Web of Science ®Google Scholar
• Lion-François L, Gueyffier F, Mercier C, et al. The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial. Orphanet J Rare Dis. 2014 Sep 10;9(1):142. doi: 10.1186/s13023-014-0142-4
   PubMedGoogle Scholar
• Gross AM, Singh G, Akshintala S, et al. Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1. Neuro Oncol. 2018 Nov 12;20(12):1643–1651. doi: 10.1093/neuonc/noy067
   PubMed Web of Science ®Google Scholar
• Dombi E, Solomon J, Gillespie AJ, et al. NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. Neurology. 2007 Feb 27;68(9):643–7. doi: 10.1212/01.wnl.0000250332.89420.e6
   PubMed Web of Science ®Google Scholar
• Armstrong AE, Belzberg AJ, Crawford JR, et al. Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas. BMC Cancer. 2023 Jun 16;23(1):553. doi: 10.1186/s12885-023-10996-y
   PubMed Web of Science ®Google Scholar
• Gross AM, Dombi E, Wolters PL, et al. Long-term safety and efficacy of selumetinib in children with neurofibromatosis type 1 on a phase 1/2 trial for inoperable plexiform neurofibromas. Neuro Oncol. 2023 Oct;25(10):1883–1894.
   PubMed Web of Science ®Google Scholar
• Habiby R, Silverman B, Listernick R, et al. Precocious puberty in children with neurofibromatosis type 1. J Pediatr. 1995 Mar;126(3):364–7.
   PubMed Web of Science ®Google Scholar
• Ostendorf AP, Gutmann DH, Weisenberg JL. Epilepsy in individuals with neurofibromatosis type 1. Epilepsia. 2013 Oct;54(10):1810–1814. doi: 10.1111/epi.12348
   PubMed Web of Science ®Google Scholar
• Crawford AH, Herrera-Soto J. Scoliosis associated with neurofibromatosis. Orthop Clin North Am. 2007 Oct;38(4):553–62. vii. doi: 10.1016/j.ocl.2007.03.008
   PubMed Web of Science ®Google Scholar
• Tsirikos AI, Saifuddin A, Noordeen MH. Spinal deformity in neurofibromatosis type-1: diagnosis and treatment. Eur Spine J. 2005 Jun;14(5):427–39. doi: 10.1007/s00586-004-0829-7
   PubMed Web of Science ®Google Scholar
• Radtke HB, Berger A, Skelton T, et al. Neurofibromatosis type 1 (NF1): addressing the transition from pediatric to adult care. Pediatric Health Med Ther. 2023 Feb 9;14:19–32. doi: 10.2147/PHMT.S362679
   PubMed Web of Science ®Google Scholar
• Weisman AG, Haws T, Lee J, et al. Transition readiness assessment in adolescents and young adults with neurofibromatosis type 1 (NF1). Compr Child Adolesc Nurs. 2023 Sep;46(3):223–229.
   PubMedGoogle Scholar
• Yan K, Gao Y, Heller SL. Breast cancer screening utilization and outcomes in women with neurofibromatosis type 1. Clin Breast Cancer. 2023 Jun;23(4):e200–205. doi: 10.1016/j.clbc.2023.02.005
   PubMed Web of Science ®Google Scholar
• Madanikia SA, Bergner A, Ye X, et al. Increased risk of breast cancer in women with NF1. Am J Med Genet. 2012 Dec;158A(12):3056–3060.
   PubMed Web of Science ®Google Scholar
• Gutmann DH, Blakeley JO, Korf BR, et al. Optimizing biologically targeted clinical trials for neurofibromatosis. Exp Opin Investig Drugs. 2013 Apr;22(4):443–462. doi: 10.1517/13543784.2013.772979
   PubMed Web of Science ®Google Scholar
• Hartman LLR, Crawford JR, Makale MT, et al. Pediatric phase II trials of poly-ICLC in the management of newly diagnosed and recurrent brain tumors. J Pediatr Hematol Oncol. 2014 Aug;36(6):451–457.
   PubMed Web of Science ®Google Scholar
• Anastasaki C, Mo J, Chen J-K, et al. Neuronal hyperexcitability drives central and peripheral nervous system tumor progression in models of neurofibromatosis-1. Nat Commun. 2022 May;13(1):2785.
   PubMed Web of Science ®Google Scholar