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Speech in patients with neurofibromatosis type 1

Marjan Cosyns (UGent)
(2011)
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(UGent) and (UGent)
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Abstract
Introduction. Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, characterized by multiple café-au-lait macules and neurofibromas. With a prevalence of 2 to 3 individuals per 10,000, it is the most common single gene disorder to affect the human nervous system. NF1 is caused by mutations in the NF1 gene, which is localized on the long arm of chromosome 17 and encodes the protein neurofibromin. While the NF1-related medical issues and cognitive impairment, including language deficits, are well-described and a frequent subject of research, few studies investigated in depth the occurrence of speech disorders associated with this genetic disorder using objective measurement techniques. Goal of this doctoral thesis. This doctoral thesis aimed to further explore the speech of NF1 patients, preferably using objective measures. In a pilot study, key issues in the speech of NF1 patients as perceived by themselves were identified. Subsequently, a series of six studies were set up to document speech fluency, voice, nasal resonance, and articulation in NF1 patients. Results. The speech of NF1 patients as a group was characterized by dysprosody, including disfluencies not identical to stuttering, limitations in laryngeal possibilities, inconsistent hypernasality, and mild articulation disorders. Statistically significant gender differences were observed but not in every aspect of speech production. Adult men displayed more disfluencies and a narrower voice range profile than adult women. In children, girls tended to exhibit more severe articulation problems than boys. Further, children presented with significantly more articulation difficulties than adults. Conclusion. Speech abnormalities are a common finding in NF1 patients, reflecting difficulties with speech motor control. Mechanical factors alone cannot explain these near-constant findings from one patient to the next, and a neurological basis is proposed. It is hypothesized that subcortical dysfunction, a mechanism that has been linked to the occurrence of learning deficits in this population, might explain the speech abnormalities in NF1 patients.

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Citation

Please use this url to cite or link to this publication:

Chicago
Cosyns, Marjan. 2011. “Speech in Patients with Neurofibromatosis Type 1”. Ghent, Belgium: Ghent University. Faculty of Medicine and Health Sciences.
APA
Cosyns, Marjan. (2011). Speech in patients with neurofibromatosis type 1. Ghent University. Faculty of Medicine and Health Sciences, Ghent, Belgium.
Vancouver
1.
Cosyns M. Speech in patients with neurofibromatosis type 1. [Ghent, Belgium]: Ghent University. Faculty of Medicine and Health Sciences; 2011.
MLA
Cosyns, Marjan. “Speech in Patients with Neurofibromatosis Type 1.” 2011 : n. pag. Print.
@phdthesis{1944915,
  abstract     = {Introduction. Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, characterized by multiple caf{\'e}-au-lait macules and neurofibromas. With a prevalence of 2 to 3 individuals per 10,000, it is the most common single gene disorder to affect the human nervous system. NF1 is caused by mutations in the NF1 gene, which is localized on the long arm of chromosome 17 and encodes the protein neurofibromin. While the NF1-related medical issues and cognitive impairment, including language deficits, are well-described and a frequent subject of research, few studies investigated in depth the occurrence of speech disorders associated with this genetic disorder using objective measurement techniques.
Goal of this doctoral thesis. This doctoral thesis aimed to further explore the speech of NF1 patients, preferably using objective measures. In a pilot study, key issues in the speech of NF1 patients as perceived by themselves were identified. Subsequently, a series of six studies were set up to document speech fluency, voice, nasal resonance, and articulation in NF1 patients.
Results. The speech of NF1 patients as a group was characterized by dysprosody, including disfluencies not identical to stuttering, limitations in laryngeal possibilities, inconsistent hypernasality, and mild articulation disorders. Statistically significant gender differences were observed but not in every aspect of speech production. Adult men displayed more disfluencies and a narrower voice range profile than adult women. In children, girls tended to exhibit more severe articulation problems than boys. Further, children presented with significantly more articulation difficulties than adults.
Conclusion. Speech abnormalities are a common finding in NF1 patients, reflecting difficulties with speech motor control. Mechanical factors alone cannot explain these near-constant findings from one patient to the next, and a neurological basis is proposed. It is hypothesized that subcortical dysfunction, a mechanism that has been linked to the occurrence of learning deficits in this population, might explain the speech abnormalities in NF1 patients.},
  author       = {Cosyns, Marjan},
  language     = {eng},
  pages        = {149},
  publisher    = {Ghent University. Faculty of Medicine and Health Sciences},
  school       = {Ghent University},
  title        = {Speech in patients with neurofibromatosis type 1},
  year         = {2011},
}