Usefulness of screening investigations in neurofibromatosis type 1. A study of 152 patients

Wolkenstein, Pierre

doi:10.1001/archderm.132.11.1333

Cited by 20 publications

(19 citation statements)

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“…The incidence of plexiform neurofibromas was 40%, similar to the findings of Riccardi (15), but higher than the percentage of 15-32% reported by others (13,14,16,(21)(22)(23)(24)(25). We also found IQ scores below 70 in 35% of the cases (14 of 40).…”

Section: Discussionsupporting

confidence: 88%

“…Other studies have reported mental retardation frequencies ranging from 3 to 14% (12,15,(26)(27)(28)(29)(30)(31)(32)(33). Learning difficulties were also reported in 38 of 50 (76%) patients in our study, a value higher than the percentage of 30-62% reported by others (13,14,16,(22)(23)(24)(26)(27)(28)(29)(30)(31)(33)(34)(35). Three children in the preschool age and two illiterate patients were excluded from the analyses because of learning difficulties.…”

Section: Discussioncontrasting

confidence: 66%

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High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

Trovó-Marqui

Goloni-Bertollo

Valerio

et al. 2005

Braz J Med Biol Res

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Section: Discussionsupporting

confidence: 88%

Section: Discussioncontrasting

confidence: 66%

High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

Trovó-Marqui

Goloni-Bertollo

Valerio

et al. 2005

Braz J Med Biol Res

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“…3,9 Each patient with NF1 was offered a clinical follow-up according to the standard protocol described previously. 7 One annual standardized clinical examination was recommended, unless a particular symptom or a complication required more frequent consultation and/or further investigations. 6 Among the 433 patients with NF1 in the database, those with a follow-up of more than 1 year were included in the present study.…”

Section: Patients Data Description and Definitionsmentioning

confidence: 99%

“…6,7 Therefore, clinical predictive factors for mortality would be helpful to target the follow-up for susceptible patients. We designed a study to identify the main clinical features associated with mortality.…”

mentioning

confidence: 99%

Clinical Risk Factors for Mortality in Patients With Neurofibromatosis 1

Khosrotehrani¹,

Bastuji‐Garin²,

Zeller³

et al. 2003

Arch Dermatol

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“…Several studies have assessed whether screening of individuals already known to have NF1 for complications is helpful. A recent paper suggests that the vast majority of abnormalities identified through a comprehensive screening program (consisting of ophthalmologic consultation with slit-lamp examination, chest radiograph, abdominal ultrasonography, neuroimaging, and analysis of catecholamine levels) did not result in therapeutic action (53). Studies such as these have led many NF1 experts to suggest that a careful clinical evaluation for NF1 complications on an annual basis (or more often, if necessary) by a physician familiar with NF1 is optimal for affected individuals (16).…”

Section: Population Testingmentioning

confidence: 99%

Analysis of Phenotypic Variability in Neurofibromatosis Type I (NF1)

Friedman¹

2001

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Public reporting burden for this collection of information is estimated to average 1 hour per response, including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing this collection of information. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing this burden to Washington Headquarters Services, Directorate for Information Operations and Reports, 1215 Jefferson Davis Highway, Suite 1204, Arlington, VA 22202-4302, and This project was designed to characterise the sources of phenotypic variability in neurofibromatosis 1 (NF1) by a combination of clinical, statistical, epidemiological, and molecular genetic methods. We have analysed associations found in clinical and genetic data from the NNFF International Database and two other databases with logistic regression and generalized estimating equations. We then extended these methods to use multivariate probit models on familial data. These are novel statistical techniques that have not been used in this way before and yielded interesting results about the sources of phenotypic variability. We were able to determine that the presence of some features of NF1 are more influenced by variability in the NF1 allele, others by the normal NF1 allele and still others by unlinked modifying genes. We have set up, and tested the screening protocol to identify the constitutional mutations of NF1 and have obtained a number of blood samples. We have results for one of our phenotypic subgroups and are completing the analysis at the present time.14. SUBJECT TERMS Neurofibromatosis Body 5 Key Research Accomplishments 26 Reportable Outcomes 27Conclusions 31 Appendices 32 INTRODUCTIONThe natural history of neurofibromatosis 1 (NF1) is incompletely understood. It exhibits extreme clinical variability and is progressive over the course of an affected individual's life. However, the rate of progression and the occurrence of serious complications vary greatly between different patients of the same age, different affected members of a single family, and even a single affected individual at different times in life. This variability and concomitant uncertainty greatly increases the burden for affected families.The purpose of this project is to characterize the sources of phenotypic variability in NF1. The studies were performed on the world's largest NF clinical databases, together including over 5000 individuals, and used a variety of statistical and genetic epidemiological methods. Our goal was to determine if a set of clinical phenotypes exists for which allelic differences at the NF1 locus appear to be important determinants of phenotype. The molecular component of this study (undertaken by Dr. D. Viskochil, University of Utah) was to develop a molecular screening process to enable us to identify the nature of the mutations within these putative phenotypes. BODY Data used in these studies:Most of the initial analy...

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Usefulness of screening investigations in neurofibromatosis type 1. A study of 152 patients

Cited by 20 publications

References 0 publications

High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1

Clinical Risk Factors for Mortality in Patients With Neurofibromatosis 1

Analysis of Phenotypic Variability in Neurofibromatosis Type I (NF1)

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