Reliability of functional outcome measures in adults with neurofibromatosis 1
نویسندگان
چکیده
منابع مشابه
Constipation in adults with neurofibromatosis type 1
BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times are common in children with NF1. The aim of the present study was to investigate and compare the prevalence of gastrointestinal symptoms in adu...
متن کاملArticulation in schoolchildren and adults with neurofibromatosis type 1.
UNLABELLED Several authors mentioned the occurrence of articulation problems in the neurofibromatosis type 1 (NF1) population. However, few studies have undertaken a detailed analysis of the articulation skills of NF1 patients, especially in schoolchildren and adults. Therefore, the aim of the present study was to examine in depth the articulation skills of NF1 schoolchildren and adults, both p...
متن کاملVoice characteristics in adults with neurofibromatosis type 1.
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by mutations in the NF1 gene, which is located at the long arm of chromosome 17. Major characteristics include multiple café-au-lait spots and neurofibromas. Voice abnormalities have been reported to occur in this patient group. However, most studies relied on subjective measurements only. The present study r...
متن کاملBody composition in adults with neurofibromatosis type 1.
Objective To evaluate the body composition and nutritional status of neurofibromatosis type 1 (NF1) adult patients. Method A cross-sectional study of 60 NF1 patients (29 men, 31 women) aged ≥ 18 years who were evaluated from September 2012 to September 2013 in a Neurofibromatosis Outpatient Reference Center. Patients underwent nutritional assessment including measurements of weight, stature, ...
متن کاملNon-optic glioma in adults and children with neurofibromatosis 1
BACKGROUND Non-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. We aimed to investigate progression, spontaneous regression and the natural history of non-optic gliomas in adults and compare these findings to the results found in children. RESULTS One thousand seven hundred twenty-two brain MRI scans of 562 unselected individuals with NF1 were...
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ژورنال
عنوان ژورنال: SAGE Open Medicine
سال: 2018
ISSN: 2050-3121,2050-3121
DOI: 10.1177/2050312118786860