Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge

American Journal of Medical Genetics, Part A

Volumn 161, Issue 4, 2013, Pages 659-666

  Oates, Emily C ^a,b   Payne, Jonathan M ^a,b   Foster, Sheryl L ^c,d   Clarke, Nigel F ^a,b   North, Kathryn N ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b University of Sydney   (Australia)

^c WESTMEAD HOSPITAL   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Complication; Disease knowledge; Health surveillance; Healthcare; Malignancy; Neurofibromatosis 1; Neurofibromatosis syndrome; Nf1 neurofibromatosis 1; Plexiform neurofibroma

Indexed keywords

ADULT; ARTICLE; ATTITUDE TO HEALTH; BACKACHE; BRAIN MALFORMATION; CHRONIC PAIN; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONGENITAL HEART MALFORMATION; DISEASE SURVEILLANCE; FEMALE; HEALTH CARE ACCESS; HEALTH CARE NEED; HUMAN; HYPERTENSION; KIDNEY ARTERY STENOSIS; MALE; NEUROFIBROMA; NEUROFIBROMATOSIS; PRIORITY JOURNAL; QUALITY OF LIFE; RISK ASSESSMENT; RISK FACTOR; SCOLIOSIS; SPINAL CORD COMPRESSION;

ADULT; AGE FACTORS; AUSTRALIA; BRAIN; COMORBIDITY; DISEASE MANAGEMENT; FEMALE; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HEALTH SERVICES ACCESSIBILITY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; NEUROFIBROMATOSIS 1; POSITRON-EMISSION TOMOGRAPHY; SPINAL CORD;

EID: 84875541187     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35840     Document Type: Article

References (39)

1. Airewele GE, Sigurdson AJ, Wiley KJ, Frieden BE, Caldarera LW, Riccardi VM, Lewis RA, Chintagumpala MM, Ater JL, Plon SE, Bondy ML. 2001. Neoplasms in neurofibromatosis 1 are related to gender but not to family history of cancer. Genet Epidemiol 20:75-86.
2. Anon. 1988. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 45:575-578.
3. Barton B, North K. 2004. Social skills of children with neurofibromatosis type 1. Dev Med Child Neurol 46:553-563.
4. Creange A, Zeller J, Rostaing-Rigattieri S, Brugieres P, Degos JD, Revuz J, Wolkenstein P. 1999. Neurological complications of neurofibromatosis type 1 in adulthood. Brain 122:473-481.
5. Dulai S, Briody J, Schindeler A, North KN, Cowell CT, Little DG. 2007. Decreased bone mineral density in neurofibromatosis type 1: Results from a pediatric cohort. J Pediatr Orthop 27:472-475.
6. Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. 2002. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 39:311-314.
7. Evans DG, O'Hara C, Wilding A, Ingham SL, Howard E, Dawson J, Moran A, Scott-Kitching V, Holt F, Huson SM. 2011. Mortality in neurofibromatosis 1: In North West England: An assessment of actuarial survival in a region of the UK since 1989. Eur J Hum Genet 19:1187-1191.
8. Ferner RE, Hughes RA, Weinman J. 1996. Intellectual impairment in neurofibromatosis 1. J Neurol Sci 138:125-133.
9. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A. 2007. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44:81-88.
10. Friedman JM, Birch PH. 1997. Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1, 728 patients. Am J Med Genet 70:138-143.
11. Guillamo JS, Creange A, Kalifa C, Grill J, Rodriguez D, Doz F, Barbarot S, Zerah M, Sanson M, Bastuji-Garin S, Wolkenstein P. 2003. Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): A retrospective study of 104 patients. Brain 126:152-160.
12. Huson SM, Compston DA, Clark P, Harper PS. 1989. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 26:704-711.
13. Hyman SL, Shores A, North KN. 2005. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology 65:1037-1044.
14. Hyman SL, Arthur Shores E, North KN. 2006. Learning disabilities in children with neurofibromatosis type 1: Subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Dev Med Child Neurol 48:973-977.
15. Hyman SL, Gill DS, Shores EA, Steinberg A, North KN. 2007. T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry 78:1088-1091.
16. Jett K, Friedman JM. 2010. Clinical and genetic aspects of neurofibromatosis 1. Genet Med 12:1-11.
17. Joy P, Roberts C, North K, de Silva M. 1995. Neuropsychological function and MRI abnormalities in neurofibromatosis type 1. Dev Med Child Neurol 37:906-914.
18. Kossler N, Stricker S, Rodelsperger C, Robinson PN, Kim J, Dietrich C, Osswald M, Kuhnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M. 2011. Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 20:2697-2709.
19. Lammert M, Kappler M, Mautner VF, Lammert K, Storkel S, Friedman JM, Atkins D. 2005. Decreased bone mineral density in patients with neurofibromatosis 1. Osteoporos Int 16:1161-1166.
20. Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, Armfield Uhas K, Sigorini M, Virdis R, Romano C, Bonioli E, Wolkenstein P, Pivnick EK, Lawrence M, Friedman JM. 2000. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet 95:108-117.
21. Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D. 2011. Mortality associated with neurofibromatosis type 1: A study based on Italian death certificates (1995-2006). Orphanet J Rare Dis 6:11.
22. Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Hogel J, Spori H, Cooper DN, Kehrer-Sawatzki H. 2010. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4Mb type-1 NF1 deletions. J Med Genet 47:623-630.
23. McCaughan JA, Holloway SM, Davidson R, Lam WW. 2007. Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1. J Med Genet 44:463-466.
24. Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E. 2009. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA 302:2111-2118.
25. NHMRC. 2009. Australian guidelines to reduce health risks from drinking alcohol. nhmrc.publications@nhmrc.gov.au
26. North K, Joy P, Yuille D, Cocks N, Mobbs E, Hutchins P, McHugh K, de Silva M. 1994. Specific learning disability in children with neurofibromatosis type 1: Significance of MRI abnormalities. Neurology 44:878-883.
27. North K, Hyman S, Barton B. 2002. Cognitive deficits in neurofibromatosis 1. J Child Neurol 17:605-612; discussion 627-629, 646-651. Review.
28. Payne JM, Pickering T, Porter M, Oates EC, Walia N, Prelog K, North KN. (submitted). Longitudinal assessment of cognition and T2-hyperintensities in N F1: an 18 year study.
29. Rasmussen SA, Yang Q, Friedman JM. 2001. Mortality in neurofibromatosis 1: An analysis using U.S. death certificates. Am J Hum Genet 68:1110-1118.
30. Rodriguez FJ, Perry A, Gutmann DH, O'Neill BP, Leonard J, Bryant S, Giannini C. 2008. Gliomas in neurofibromatosis type 1: A clinicopathologic study of 100 patients. J Neuropathol Exp Neurol 67:240-249.
31. Souza J, Passos R, Guedes A, Rezende N, Rodrigues L. 2009. Muscular force is reduced in neurofibromatosis type 1. J Musculoskelet Neuronal Interact 9:15-17.
32. Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M. 2009. SPRED1 mutations (Legius syndrome): Another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet 46:431-437.
33. Tonsgard JH, Yelavarthi KK, Cushner S, Priscilla Short M, Lindgren V. 1997. Do NF1 gene deletions result in a characteristic phenotype? Am J Med Genet 73:80-86.
34. Tucker T, Schnabel C, Hartmann M, Friedrich RE, Frieling I, Kruse HP, Mautner VF, Friedman JM. 2009. Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). J Med Genet 46:259-265.
35. Van Es S, North KN, McHugh K, De Silva M. 1996. MRI findings in children with neurofibromatosis type 1: A prospective study. Pediatr Radiol 26:478-487.
36. Walker L, Thompson D, Easton D, Ponder B, Ponder M, Frayling I, Baralle D. 2006. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer 95:233-238.
37. Yohay K. 2009. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep 9:247-253.
38. Zoller M, Rembeck B, Akesson HO, Angervall L. 1995. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol 75:136-140.
39. Zoller ME, Rembeck B, Oden A, Samuelsson M, Angervall L. 1997. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer 79:2125-2131.