The nature of speech and language impairment in adults with neurofibromatosis 1

Lorch, Marjorie Perlman; Ferner, Robin E; Golding, John F.; Whurr, Renata

doi:10.1016/s0911-6044(99)00012-3

Cited by 29 publications

(32 citation statements)

References 18 publications

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“…The higher occurrence of articulation disorders and abnormal loudness and fluency is in line with the findings of White et al (1986) and Lorch et al (1999). Concerning resonance, both White et al (1986) and Lorch et al (1999) stated that the speech of patients with NF1 is characterized by hypernasality. However, we did not find a significant difference in nasality between the NF1 patients and the normal population.…”

Section: Discussionsupporting

confidence: 76%

“…In addition, White et al (1986) stated that the speech of a patient with NF1 is characterized by hypernasality, a deliberate paced rhythm, poor strength, and lisping articulations. Lorch et al (1999) confirmed some of these findings. Speech samples of 30 adults with NF1 ranging in age from 17 to 73 years were collected and rated by a neurolinguist, a neurologist, and a speech therapist.…”

Section: Introductionsupporting

confidence: 68%

See 1 more Smart Citation

Speech disorders in neurofibromatosis type 1: a sample survey

Cosyns

Vandeweghe

Janssens

et al. 2010

Intl J Lang & Comm Disor

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Section: Discussionsupporting

confidence: 76%

Section: Introductionsupporting

confidence: 68%

Speech disorders in neurofibromatosis type 1: a sample survey

Cosyns

Vandeweghe

Janssens

et al. 2010

Intl J Lang & Comm Disor

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“…A number of authors report the presence of fluency problems. These have been characterized as disorders in speech rate (Lorch, Ferner, Golding, & Whurr, 1999;Riccardi, 1981;Solot et al, 1990), speech rhythm (Solot et al, 1990;White, Smith, Brooke, Bigler, & Schauer, 1986) and stuttering (Köhler, 1990;Rondal, 2001). None of these studies, however, provides further details of the nature of the disorder or information about the pathogenesis.…”

Section: Neurofibromatosis Type Imentioning

confidence: 99%

Fluency disorders in genetic syndromes

Borsel

Tetnowski

2007

Journal of Fluency Disorders

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Section: Communication Disorders Are Different In Nf1 and Nf2mentioning

confidence: 99%

“…They may present with articulation disorders, hypernasality (inability to obtain adequate closure of the velopharyngeal port during sound production), stuttering, fast rate of speech, hoarseness, atypically loud volume, harshness or creak, weakness and breathiness 33 . These features may derive from various problems such as poor coordination of articulatory muscles and breathing control and/or inability to synchronize the complex motor patterns required for speech 34 .Individuals with NF1 show delayed language development and slow acquisition of vocabulary with syntactic, semantic and phonological errors. A study with Brazilian individuals with NF1 showed auditory processing disorder in 100% of the patients, which was correlated with learning deficits 35 .…”

mentioning

confidence: 99%

Neurofibromatosis: part 2 – clinical management

Batista

Goloni-Bertollo

Costa

et al. 2015

Arq. Neuro-Psiquiatr.

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Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.Keywords: neurofibromatosis, neurofibromatosis type 1, neurofibromatosis type 2, schwannomatosis, Legius syndrome. resumo A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.Palavras-chave: neurofibromatoses, neurofibromatose 1, neurofibromatose 2, schwannomatose, síndrome de Legius. 532Arq Neuropsiquiatr 2015;73(6): [531][532][533][534][535][536][537][538][539][540][541][542][543] Part 1 of this guideline addressed differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH) 1 . This second part aims to offer some practical suggestions on the clinical management of NF.NF shares some features, such as the genetic origin of the neural tumors, cutaneous manifestations, heterogeneous phenotype and unpredictable and usually progressive natural course. However, they differ in age of onset, progression of the symptoms and prognosis. Moreover, NF clinical presentation and severity vary among patients and even between twins carrying the same NF gene mutation 2 . The wide range of NF clinical manifestations and the difficulties to predict the onset or the severity of new features, consequences, o...

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The nature of speech and language impairment in adults with neurofibromatosis 1

Cited by 29 publications

References 18 publications

Speech disorders in neurofibromatosis type 1: a sample survey

Speech disorders in neurofibromatosis type 1: a sample survey

Fluency disorders in genetic syndromes

Neurofibromatosis: part 2 – clinical management

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