Ophthalmological assessment of children with neurofibromatosis type 1

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Ophthalmological manifestations in segmental neurofibromatosis type 1.

AIMS To study the ophthalmological manifestations in individuals with the typical features of neurofibromatosis type 1 (NF1) circumscribed to one or more body segments, usually referred to as segmental NF1. METHODS Visual acuity and colour tests, visual field examination, slit lamp biomicroscopy of the anterior segment, and a detailed examination of the retina by indirect ophthalmoscopy were ...

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Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

BACKGROUND Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in seizures pathogenesis in a cohort of children with NF1 and seizures. METHODS The medical records of 437 children (0-18 years old) with NF1 w...

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Prevalence of Sleep Disturbances in Children With Neurofibromatosis Type 1.

Children with neurodevelopmental disorders are at increased risk for sleep issues, which affect quality of life, cognitive function, and behavior. To determine the prevalence of sleep problems in children with the common neurodevelopmental disorder neurofibromatosis type 1, a cross-sectional study was performed on 129 affected subjects and 89 unaffected siblings, age 2 to 17 years, using the Sl...

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Neurocognitive profiles of learning disabled children with neurofibromatosis type 1

Neurofibromatosis 1 (NF1) is a genetic condition generally associated with intellectual deficiency and learning disabilities. Although there have been groundbreaking advances in the understanding of the molecular, cellular, and neural systems underlying learning deficits associated to NF1 in animal models, much remains to be learned about the spectrum of neurocognitive phenotype associated with...

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ژورنال

عنوان ژورنال: European Journal of Pediatrics

سال: 2013

ISSN: 0340-6199,1432-1076

DOI: 10.1007/s00431-013-2145-x