A novel technique for superior-based pharyngeal flaps: 10-year results with formal speech outcomes assessment.

PURPOSE: Describe a novel technique for superior-based pharyngeal flaps allowing restoration of bulk to the soft palate and intraoperative fine-tuning of lateral port size, while avoiding midline palate-splitting. Validated speech assessment tools are employed for quantitative analysis. METHODS: Retrospective review of all patients who underwent superior-based pharyngeal flap in a 10-year period by a single surgeon. Pittsburgh Weighted Values for Speech Symptoms Associated with VPI and the Goldman-Fristoe Test of Articulation were used for formal speech assessment. RESULTS: 78 patients met inclusion criteria with clinical data up to 10years postoperatively. 31 patients had congenital velopharyngeal insufficiency (VPI), and the remainder acquired VPI after cleft palate repair or adenoidectomy. 37 patients had a recognized syndrome. All patients noted subjective improvement in nasality, and evaluation with the validated speech assessment tools demonstrated statistically significant improvement in speech. Only one flap takedown was required in a patient with severe midface hypoplasia who developed sleep apnea several years postoperatively. CONCLUSIONS: This technique is successful in congenital and acquired VPI, and in patients with complex craniofacial syndromes. Customization of lateral ports based on preoperative nasopharyngoscopy, and avoidance of a midline palate splitting incision, make this an attractive option for superior-based flap surgery.

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. KIF21A and TUBB3 that each plays a pivotal role for microtubule function. In a five-generation pedigree, we identified a heterozygous mutation of TUBB6, a gene encoding a class V tubulin which has not been linked to a human hereditary disease so far. The missense mutation (p.Phe394Ser) affects an amino acid residue highly conserved in evolution, and co-segregates with a phenotype characterized by congenital non-progressive bilateral facial palsy and congenital velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia, impaired gag reflex and bilateral ptosis. Expression of the mutated protein in yeast led to an impaired viability compared to wildtype cells when exposed to the microtubule-poison benomyl. Our findings enlarge the spectrum of tubulinopathies and emphasize that mutations of TUBB6 should be considered in patients with congenital non-progressive facial palsy. Further studies are needed to verify whether this phenotype is indeed part of the CCDD spectrum.

Perioperative risk factors in patients with 22q11.2 deletion syndrome requiring surgery for velopharyngeal dysfunction.

Objective : To determine the prevalence of cardiac, cervical spine, and carotid artery abnormalities in patients with 22q11.2 deletion syndrome (22q11.2DS) undergoing surgery for velopharyngeal dysfunction (VPD), associations between the presence of these abnormalities, and whether these abnormalities caused changes in surgical management or perioperative complications. Design : Retrospective review. Setting : Tertiary pediatric hospital. Patients : Seventy patients with 22q11.2DS with complete preoperative cervical vascular and spine imaging and cardiac evaluation between 1998 and 2011. Main Outcome Measures : Incidence of cardiac, cervical spine, and vascular abnormalities; related perioperative complications; and resulting changes in surgical, anesthetic, or perioperative management plan. Results : Cardiac abnormalities occurred in 45 patients (64.3%), and 8 patients required cardiac anesthesia. Thirty-eight patients (54.3%) had at least one vascular abnormality of the neck, and 14% had medial deviation of the internal carotid artery. Surgery was not performed in one patient, and the surgical plan was altered in three patients because of carotid anomalies. Cervical spine abnormalities were found in 24 patients (34.3%); 8 patients demonstrated radiographic evidence of cervical instability and were treated with spinal precautions during surgery. The presence of one anomaly was not predictive of any other finding, and there were no complications related to the heart, cervical spine, or carotid arteries. Conclusions : Anomalies of the heart, cervical spine, and cervical vasculature occur frequently in 22q11.2DS, vary drastically in severity, and are impossible to predict based on other features of the syndrome. Preoperative diagnosis of these comorbidities with routine imaging can minimize the risk of avoidable surgical complications.

Severe congenital hypoglossia: a case report.

Hypoglossia is referred to a small volume and/or size of the tongue. It is a rare congenital condition caused by failed embryogenesis of the lateral lingual swellings and tuberculum impar during the fourth to eighth weeks of gestation. The anomaly has often occurred in association with limb abnormalities and various syndromes, and it affects facial and mandibular growth. The present report describes a case of severe congenital hypoglossia in a female infant, her systemic and dentofacial features, and the initial management.

Management of velopharyngeal insufficiency in the presence of enlarged tonsils: comparing a one-stage versus two-stage treatment result.

Alterations in velopharyngeal function after removal of enlarged tonsils were noted. However, the changes varied from previous reports. The purposes of this study were to examine the effect of tonsillectomy on velopharyngeal function and to look for proper management of velopharyngeal insufficiency in the presence of enlarged tonsils. Thirty patients who received tonsillectomy at one craniofacial centre were reviewed. The influence of tonsillectomy on velopharyngeal function was examined and correlations to nasopharyngoscopic or videofluoroscopic findings were made. The outcomes between simultaneous and staged tonsillectomy and velopharyngeal surgery were compared. Tonsillectomy was found to either improve or impair velopharyngeal function in a small proportion of patients; however, it did not alter the surgical management of velopharyngeal insufficiency. Nasopharyngoscopic or videofluoroscopic findings did not predict the influence of tonsillectomy on velopharyngeal function. Finally, simultaneous tonsillectomy and velopharyngeal surgery had an efficacy and complication rate comparable to that of the staged approach.

Middle ear disease in children with congenital velopharyngeal insufficiency.

OBJECTIVE: To examine the incidence and natural history of middle ear disease in children with congenital velopharyngeal insufficiency (VPI) without cleft palate. SETTING AND SUBJECTS: Children with congenital VPI attending the combined cleft clinic at a tertiary cleft center. The diagnosis of congenital VPI in all cases was confirmed be the observation of hypernasality, nasal air escape, or both by a speech and language therapist and the demonstration of incompetence of the velopharyngeal sphincter by means of nasoendoscopy or videofluoroscopy. Children with overt cleft palate or postsurgical VPI were excluded. DESIGN: The children's medical records were reviewed, and a questionnaire regarding history of ear problems was sent to all parents. Children were divided into those with Pruzansky type I VPI (showing bifid uvula, midline diastasis of soft palate, or submucous cleft of the hard palate) and Pruzansky type II VPI (no visible stigmata). MAIN OUTCOME MEASURES: Incidence of reported ear problems, ear infections, hearing loss, and surgical intervention for middle ear disease in the whole group and in each of the subgroups. RESULTS: Seventy-one parents returned completed questionnaires. The overall incidence of middle ear disease was 63%, with 28% reported to have below-normal hearing. There was no significant difference between children with Pruzansky types I and II VPI with respect to incidence of otopathology or hearing loss. CONCLUSIONS: Irrespective of the presence of any visible palatal abnormalities, children with congenital VPI showed a substantial incidence of otopathology and should thus be closely monitored.

Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations.

The Velo-Cardio-Facial Syndrome (VCFS), caused by a submicroscopic deletion in the long arm of chromosome 22, has a broad clinical spectrum of ENT manifestations including for instance velopharyngeal dysfunction, hearing problems and laryngotracheal anomalies. In the current report we present guidelines for diagnosis, treatment and follow-up of the ENT manifestations in patients with a deletion 22q11, based on our experience and the literature.

[The Tübingen palatal plate--an innovative therapeutic concept in Pierre-Robin sequence]. / Die Tübinger Gaumenplatte--Ein innovatives Therapiekonzept bei Pierre-Robin-Sequenz.

Infants with Pierre-Robin sequence (PRS) may suffer severe upper airway obstruction resulting in hypoxemia that is difficult to treat. We are currently evaluating a new therapeutic approach involving an oral appliance that widens the pharynx by pulling the base of the tongue forward using a preepiglottic baton. Here we present a patient treated with this device who showed a decrease in his desaturation index from 50 to < 1.

[Study of congenital velopharyngeal insufficiency and hypernasality].

OBJECTIVE: To evaluate 27 congenital veloparyngeal insufficiency(CVPI) subjects and 6 normal articulation subjects with airflow pressure techniques. METHODS: A compare analysis was performed in two groups (CVPI subjects and normal articulation subjects) during speech production of /hemper/ and /papa/. RESULTS: There wasn't statistical significance between two groups in oral air pressure and velopharyngeal orifice areas, however, CVPI group differed significant in nasal airflow on the articulation of /hemper/ and /papa/. CONCLUSIONS: When the degree of CVPI subject's VP opening was small, hypernasality appeared to be related to duration of the opening-closing movements.

[A study on the treatment of congenital velopharyngeal insufficiency].

OBJECTIVE: To evaluate the effectiveness of speech therapy after pharyngoplasty in patients with congenital velopharyngeal insufficiency (CVPI). METHODS: Seven patients with CVPI had received pharyngoplasty and speech therapy. The blowing test and the Chinese articulation clear degree test were measured before and after speech therapy. RESULTS: The treatment results of seven patients appeared to be reasonably satisfactory after speech therapy. Both the index of blowing test and the Chinese articulation clear degree test increased significantly after speech therapy. CONCLUSION: Pharyngoplasty combined with speech therapy is effective in the treatment of patients with CVPI.

Spectral properties and quantitative evaluation of hypernasality in vowels.

A new technique for evaluating hypernasality using an acoustic approach is presented. In a preliminary study using this technique, nasal resonance was assessed in 17 normal subjects and 16 subjects judged to be hypernasal. Analyses of the one-third-octave power spectra revealed an increase in power level between the first and second formant, and a reduction in the power level in second and third formant regions among utterances judged to be hypernasal. Factor analysis of the perceptual ratings revealed that the consensus perception of hypernasality accounted for 71% of the total variance. An additional 8% was accounted for by individual differences. Multiple regression analysis revealed a high correlation between the consensus perception of hypernasality and the variance in two acoustic-power levels, these being the power level between the first and second formant and the power level of the second and third formant regions.

Congenital velopharyngeal incompetence in Kabuki make-up syndrome.

The Kabuki make-up syndrome is characterized by peculiar cranio-facial abnormalities, including cleft lip and palate. A case with velopharyngeal incompetence in a 7-year-old boy is reported. The significance of a possible association of this syndrome with congenital velopharyngeal incompetence is also discussed.

Nasal and paranasal sinus disease in patients with congenital velopharyngeal insufficiency.

OBJECTIVE: To investigate nasal and paranasal disease in patients with congenital velopharyngeal insufficiency (CVPI). DESIGN: Case series. SETTING: Patients with CVPI or cleft palate were investigated at Kyoto (Japan) University Hospital. PATIENTS AND OTHER PARTICIPANTS: Consecutive sample (60 patients with CVPI and 333 with cleft palate). No eligibility criteria or sociodemographic features. Random sample (normal subjects). MAIN OUTCOME MEASURES: The incidence of sinusitis and septal deviation, nasal airway resistance, nasal mucociliary function by saccharin test, and ciliary beating frequency were examined. These findings in patients with cleft palate and normal subjects were compared to clarify the features of nasal disease in CVPI. RESULTS: The incidence of sinusitis in CVPI was 46.7% and approximately equal to that in cleft palate (44.1%). The incidence of septal deviation in CVPI (26.7%) was low and nasal airway resistance was almost normal. In contrast, in patients with bilateral, unilateral, or incomplete cleft palate, the incidence of septal deviation was significantly more frequent (78.9%) than that in CVPI (P < 0.001), and nasal airway resistance was significantly higher than that in CVPI (P < .0001). In patients with submucosal cleft, septal deviation was found in 40.8% and nasal airway resistance was significantly higher than that in CVPI (P < .02). Although saccharin time was significantly prolonged (P < .001) and ciliary beating frequency was significantly lower (P < .005) in patients with cleft palate than in normal subjects, values for these tests in patients with CVPI were normal. CONCLUSIONS: The incidence of sinusitis was high in CVPI. However, the frequency of septal deviation and nasal airway resistance was almost normal. Nasal mucociliary function (saccharin time and ciliary beating frequency) was also normal.

[Otitis media with effusion in patients with cleft palate and congenital velopharyngeal insufficiency].

The incidences of otitis media with effusion (OME), otoscopic findings of the ear drum, hearing acuity and tympanometric findings were evaluated in 56 cases of cleft palate (CP), 33 cases of submucous cleft palate (SMCP) and 25 cases of congenital velopharyngeal insufficiency without cleft (CVPI). In all the cases, the incidences of OME, the pathological findings in otoscopy and the hearing test were far poorer in the group 8 years old and up than in the younger group. In the younger age group, the incidence of OME was 69% among the CP group, 62% in the SMCP group and showed significantly less incidence in the CVPI group (28%). The incidence of pathological findings in the ear drum was significantly less in the CVPI group than in either the CP group or the SMCP group. Hearing impairment was more frequent in the CP group than in both the SMPC and CVPI groups, while fewer incidences of abnormal tympanogram were found in the CVPI group than in the other two groups. Nearly 14% of the younger CP group developed pathological findings after surgery for velopharyngeal improvement. Most cases were found after push back operations, but rare after pharyngeal flap operations.

Otologic manifestations in congenital velopharyngeal insufficiency.

A study of ear disease in children with congenital velopharyngeal insufficiency (VPI) was undertaken. A retrospective chart analysis of 80 cases of VPI formed the basis of this review. Thirty-seven percent of the children had evidence of middle ear disease, with middle ear effusion and recurrent otitis media being the most frequent findings. Thirty-one percent had abnormal audiograms, with 20% having a conductive or mixed hearing loss. Overall, 46% of the children had otologic manifestations, indicating the need for the pediatrician and the otolaryngologist together to be actively involved in the evaluation and treatment of this group of children, starting in early infancy.

Functional palatal incompetence in the fetal anticonvulsant syndrome.

We report two children with mild mental retardation and appreciable articulation difficulties whose mothers took phenobarbitone and phenytoin throughout their pregnancies. The speech difficulties in both children were due to malfunction of an anatomically normal palate.

A rationale for modifying the site of insertion of the orticochea pharyngoplasty.

A modification of the insertion level of Orticochea flaps is proposed. The purpose of the modification is to place the pharyngoplasty at a higher site, in the area of attempted velopharyngeal contact. The site of velopharyngeal contact can be identified using lateral radiographic techniques. A success rate of 93 percent was achieved in improved oral-nasal resonance balance when the pharyngoplasty was placed at a site in the nasopharynx.