Velopharyngeal Incompetence Suspected Symptom to Congenital Myopathy: a Case Report

Document Type : Case Report

Authors

1 Student of MSc.Department of Speech Therapy, School of Rehabilitation Sciences, Isfahan University of Medical Scienses, Isfahan, Iran.

2 Craniofacial Anomalies and Cleft Palate Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

3 Lecturer of Speech Therapy.Department of Speech Therapy, Iranian Stuttering Research Center, School of Rehabilitation Sciences, Isfahan University of Medical Scienses, Isfahan, Iran.

Abstract

Background and Objective:Although cleft palate is the most common cause of velopharyngeal dysfunction (VPD), other disorders can also cause hypernasality and/or nasal emission. Velopharyngeal incompetence (VPI) is one of the VPD. VPI is usually associated with a cleft palate but it can occur without a cleft palate. Congenital myopathy (CM) is a muscular disorder that recognizes early onset of the disease, muscle weakness, hypotonia and delayed motor development. Yet do not specify the effect of VPI due to CM, on speech. The purpose of this paper was to describe a case of VPI as one of the main clinical manifestations in a patient with a congenital myopathy.
Case presentation: The patient was a four years old female. There was no family history of cleft palate or lip. The only complaint of the family was unclear speech and her hypernasality. After perceptual assessment and diagnosis of severe hypernasality, endoscopy was performed. Endoscopy showed that in the absence of structural abnormalities, soft palate and pharynx walls were moveless. there was a medium gap too.
Discussion: Patient speech errors in high-pressure consonants, were severe hypernasality, posterior-nasal fricative and nasal emission. These errors are special features of cleft palate, but in device evaluation, she had no obvious or even submucosal cleft palate. With reference to the neurologist, specify the VPI symptoms, resulting from congenital myopathy. The report emphasizes the need to suspect to a neuromuscular disease when a VPI is diagnosed and there is no evidence of an upper abdominal ulcer and abdominal endoscopic cleft.

Keywords

References

1-Kummer AW, Clark SL, Redle EE, Thomsen LL, Billmire DA. Current practice in assessing and reporting speech outcomes of cleft palate and velopharyngeal surgery: a survey of cleft palate/craniofacial professionals. The Cleft Palate-Craniofacial Journal. 2012;49(2):146-52.
2-Kummer AW, Marshall JL, Wilson MM. Non-cleft causes of velopharyngeal dysfunction: Implications for treatment. Int J Pediatr Otorhinolaryngol. 2015;79(3):286-95.
3-Hodgins N, Hoo C, McGee P, Hill C. A survey of assessment and management of velopharyngeal incompetence (VPI) in the UK and Ireland. J Plast Reconstr Aesthet Surg. 2015;68(4):485-91.
4-            Mojiri F, Moazeni A, Derakhshandeh F, Nouri N, Hoseini SM. Compare acoustic analysis in children with VPI and normal. Journal Of Research In Rehabilitation Sciences. 2011;7(4):540-8.
5-Derakhshandeh F, Poorjavad M. The Study of Speech Disorders and Middle Ear Diseases Following Primary Palatoplasty in Children with Cleft Palate. Journal of Isfahan Medical School. 2011;29(130).
6-Rezaei P, Sadeghi S, Samani M, Yazdi M, Derakhshandeh F, Memarzadeh M. The relationship between timing of primary palatal surgery, cleft type and hypernasality in 3-6 years old children with cleft palate. Journal Of Research In Rehabilitation Sciences. 2014;10(2):228-38.
7-Bettens K, Wuyts FL, Van Lierde KM. Instrumental assessment of velopharyngeal function and resonance: A review. J Commun Disord. 2014;52:170-83.
8-Silva-Rojas A, Ysunza A, Diaz-Torres D, Bardales-Lazcano M, Pamplona MC. Velopharyngeal insufficiency as the initial manifestation of a Myotonic Dystrophy type 1: A case report. Int J Pediatr Otorhinolaryngol Extra. 2012;7(4):190-2.
9-Kahrizi K, Shafaghati Y, Keyhani E, Hassanzad M, Azimiyan M, Layeqi F, et al. Classification of neuromuscular disease based on clinical criteria, molecular and immunohistochemical analysis in Iranian patients. J Rehabil. 2005;6(3):44-8.
10-Romero N, Clarke N. Congenital myopathies. Handbook of clinical neurology. 2012;113:1321-36. https://doi.org/10.1016/B978-0-444-59565-2.00004-6.
11-Bezak BJ, Arce KA, Jacob A, Van Ess J. Orthognathic Surgery in Patients With Congenital Myopathies and Congenital Muscular Dystrophies: Case Series and Review of the Literature. J Oral Maxillofac Surg. 2016;74(3):601-9.
12-Jungbluth H. Central core disease. Orphanet J Rare Dis. 2007;2(1):25.
13-Amirian A, Derakhshandeh F, Salehi A, Soleimani B. Evaluating intra- and inter-rater reliability for "cleft palate speech assessment test based on universal parameters system- in persian". Journal Of Research In Rehabilitation Sciences. 2011;7(4):470-6.
Jundishapur Scientific Medical Journal
Volume 16, Issue 5 - Serial Number 110
November and December 2017
Pages 591-598

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History

  • Receive Date: 16 May 2016
  • Revise Date: 09 August 2017
  • Accept Date: 11 January 2018

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