Velopharyngeal valving during speech, in patients with velocardiofacial syndrome and patients with non-syndromic palatal clefts after surgical and speech pathology management

Ysunza, Antonio; Pamplona, María Carmen; Morales, M A Santiago

doi:10.1016/j.ijporl.2011.07.001

Cited by 19 publications

(20 citation statements)

References 24 publications

(54 reference statements)

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“…Over 180 clinical features have been reported as a consequence of the microdeletion. The inheritance pattern has been confirmed to be autosomal dominant since the early reports in the eighties [14][15][16]24]. Its genetic pattern was found in 1992 when a microdeletion of chromosome 22 at band q11.2 was demonstrated [16,24].…”

Section: Q112dsmentioning

confidence: 84%

“…An isolated submucous cleft or nonsyndromicsubmucous cleft causes VPI only in around 10% of the cases. In contrast, a submucous cleft associated with a chromosomal syndrome causes VPI in over 50% of the cases [11][12][13][14][15].…”

Section: Cleft Palate and Submucous Cleft Palatementioning

confidence: 99%

“…PRS includes a micrognatia or underdevelopment of the mandible which causes glossoptosis, a relatively enlarged tongue relative to the space within the oral cavity. The glossoptosis interferes with the fusion of the palatal shelves during the early embryonic period (4 -12 weeks) resulting in a sub -total cleft of the secondary palate [12][13][14][15][16][17][18][19][20][21][22].…”

Section: Cleft Palate and Submucous Cleft Palatementioning

confidence: 99%

“…Finally, it has also been described that tonsils are commonly enlarged in patients with VCFS. In some cases, when tonsil tissue grows in the superior aspect, it can interfere with velopharyngeal closure during speech [14][15][16][23][24][25].…”

Section: Q112dsmentioning

confidence: 99%

“…Good outcomes have been reported in cases of non -syndromic cases, using a Secondary Furlow's "Z" palatoplasty, that is, an especial repair of the levatorveli palatine after an unsuccessful primary repair of the palate. In contrast, it has been described that syndromic cases usually require an additional procedure such as a tailor -made pharyngeal flap or a sphincter pharyngoplasty [14,15,19]. However, considering the information provided by VNP and MVVF, particularly the size of the closure gap and the palatal and lateral pharyngeal wall motion during speech, a muscular repair such as the one performed during a Furlow's "Z" palatoplasty, in some cases, this simpler surgical technique has been reported to be sufficient to restore velopharyngeal function during speech.…”

Section: Management Of Velopharyngeal Insufficiency In Syndromic Casesmentioning

confidence: 99%

See 4 more Smart Citations

Diagnosis and Management of Velopharyngeal Insufficiency Associated with Chromosomal Syndromes

Ysunza

Craniofacial²,

Lozon³

2013

Clon Transgen

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All congenital structural defects in the body are the result of an error in morphogenesis. Morphogenesis takes place around 25 to 29 days of intrauterine life. Chromosomal syndromes involve a phenotypically significant structural and/or numerical chromosomal abnormality.An insufficient function of the velopharyngeal sphincter induces excessive nasal resonance during speech. This abnormal resonance is called hypernasality. A deficient seal of the velopharyngeal sphincter creates an airflow leaking into the rhinopharynx, resulting in abnormal air turbulence through the nasal cavities which can be easily perceived and is called nasal emission. Hypernasality and nasal emission are the clinical signs of velopharyngeal insufficiency (VPI). In other words, VPI is the velopharyngeal inability to create an efficient seal during speech.Most chromosomal syndromes cause VPI as a consequence of a cleft palate. However, when patients with a chromosomal abnormality and VPI are being clinically assessed, it is essential to keep in mind that an apparently and morphologically intact uvula and velum do not rule out the possibility of a sub mucous cleft palate.Several chromosomal syndromes can be associated with VPI, including: 22q11.2 deletion syndrome (22q11.2DS) or velocardiofacial syndrome among other names, Opitz G/BBB syndrome (OS), Kabuki syndrome (KS) and Jacobsen syndrome (JS). Pierre -Robin sequence (PRS) can be associated with some chromosomal syndromes. In these cases, PRS is referred as syndromic PRS.In this paper, the diagnosis and management of VPI in the most common chromosomal syndromes is discussed.

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