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The association of medially positioned internal carotid arteries and velocardiofacial (Shprintzen) syndrome was first made in 1987. This is also the most common syndrome associated with facial clefting. The potentially dangerous implications in children with this syndrome requiring pharyngoplasty for velopharyngeal incompetence and stigmatized hypernasal speech involve potential damage to these vessels. This three-part study was undertaken to analyze this anatomic variant. First, a group of 25 children with velocardiofacial syndrome, velopharyngeal incompetence, and obvious posterior pharyngeal pulsations seen on nasendoscopy was studied by CT angiography to determine the degree of this abnormal vascular pattern. This technique, together with three-dimensional reconstructions, made it possible to determine the precise location of these abnormally positioned vessels. Second, our routine superiorly based pharyngeal flap was measured by lateral cervical x-ray to show the distal tip of the flap. The variance was minimal and demonstrated the tip of most flaps to be at the disk between the C2 and C3 vertebrae. By correlating this information with the CT angiography, the risk of surgery can be determined on strict anatomic grounds, allowing customized flap design in some unilateral cases. In this series of children, routine superiorly based pharyngoplasty would be safe in 52 percent, while in 28 percent a pharyngeal flap would be safe if custom designed, and in the remaining 20 percent surgery should not be attempted because the risk of damage to the carotid arteries is too great. Third, in a double-blind study, velocardiofacial children with obvious pulsations seen on nasendoscopy were grouped with other children with palatal dysfunction. When only endoral examination was performed by plastic surgeons and plastic surgical residents, no vascular pulsations were ever seen. This indicates another important role of nasendoscopy in the preoperative assessment of children for palatopharyngoplasty.

Eight patients with Down syndrome, aged 9 years and 10 months to 25 years and 4 months, underwent partial glossectomy. Preoperative and postoperative videotaped samples of spoken words and connected speech were randomized and rated by two groups of listeners, only one of which knew of the surgery. Aesthetic appearance of speech or visual acceptability of the patient while speaking was judged from visual information only. Judgments of speech intelligibility were made from the auditory portion of the videotapes. Acceptability and intelligibility also were judged together during audiovisual presentation. Statistical analysis revealed that speech was significantly more acceptable aesthetically after surgery. No significant difference was found in speech intelligibility preoperatively and postoperatively. Ratings did not differ significantly depending on whether the rater knew of the surgery. Analysis of results obtained in various presentation modes revealed that the aesthetics of speech did not significantly affect judgment of intelligibility. Conversely, speech acceptability was greater in the presence of higher levels of intelligibility.

A characteristic pattern of velopharyngeal movement is associated with hypernasality. Nasendoscopic examination can identify the patterns of movement of the velopharynx during connected speech. The nasendoscopic observations provide a safe, objective way of assessing the anatomic dysfunction that causes hypernasality. These observations provide a clearer rationale for the design and placement of pharyngoplasty surgery. Recognition of distinct dysfunctional patterns opens the door to nonsurgical correction of hypernaslity in selected patients using the nasendoscope and video display.

Twenty-three children with Down's syndrome, aged between 3.7 and 17.5 years, underwent partial glossectomy for improvement of cosmetic appearance. Improved speech was also expected. Preoperative and postoperative audiotaped samples of spoken words and connected speech on a standardized articulation test were rated by three lay and three expert listeners on a five-point intelligibility scale. Five subjects were eliminated from both tasks and another four from connected-speech testing because of inability to complete the experimental tasks. Statistical analyses of ratings for words in 18 subjects and connected speech in 14 of them revealed no significant difference in acoustic speech intelligibility preoperatively and postoperatively. The findings suggest that a wedge-excision partial glossectomy in children with Down's syndrome does not result in significant improvement in acoustic speech intelligibility; in some patients, however, there may be an aesthetic improvement during speech.

The development of articulation before surgical closure of the hard palate was compared in 75 preschool children with cleft lip and palate and 40 preschool children born without clefts. The children were aged 2 years to 5 years 11 months. The patients had significantly poorer articulation skills than the controls at each age level. Substitutions were the most frequent error, and they did not decrease with age in the patients. Fistula size and a history of speech therapy were significant factors in the articulation error scores only in 5-year-olds. No advantage in articulation proficiency was found for those who had worn a prosthesis to occlude the hard-palate defect.

Internal carotid arteries of unusual size and tortuosity were found before or at the time of pharyngeal flap surgery in three children who had the velocardiofacial syndrome with velopharyngeal insufficiency. In two cases, medial displacement of the arteries prevented surgery, and in the other, hypernasality persisted because only a narrow, asymmetrical flap could be raised. Medial displacement of the internal carotid arteries inhibits surgical treatment of velopharyngeal insufficiency, necessitating treatment with a prosthetic speech device in such children. Since displacement and tortuosity may be associated findings in the velocardiofacial syndrome, the exact location of the internal carotids should be ascertained when pharyngeal flap surgery is planned.