Objective assessment of nasality in flemish adults with neurofibromatosis type 1
نویسندگان
چکیده
منابع مشابه
Objective assessment of nasality in Flemish adults with neurofibromatosis type 1.
When characterizing the speech of a patient with neurofibromatosis type 1 (NF1), hypernasality is often mentioned. As few studies applied technically assisted evaluations of nasality in NF1 patients, the aim of the present study was to document the nasal resonance of adults with NF1 using nasometry. The nasometric data obtained from the NF1 patients were compared with the nasalance scores of a ...
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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, ...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2011
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34314