Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.

Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these phenotypes has been studied, the frequency of deletions in patients presenting with velopharyngeal insufficiency (VPI) is unknown. We performed fluorescence in situ hybridization for locus D22S75 within the 22q11 region on 23 patients with VPI (age range 5-42 years) followed in the Craniofacial Clinic at the University of Florida. The VPI occurred either as a condition of unknown cause (n=16) or as a condition remaining following primary cleft palate surgery (n=7). Six of sixteen patients with VPI of unknown cause and one of seven with VPI following surgery had a deletion in the region. This study documents a high frequency of 22q11 deletions in those presenting with VPI unrelated to overt cleft palate surgery and suggests that deletion testing should be considered in patients with VPI.

Team acceptance of specific recommendations for the treatment of VPI as provided by speech pathologists.

This retrospective study describes the frequency of one team's acceptance of speech pathologists' recommendations for specific secondary treatment procedures for the correction of VPI for 100 consecutive patients. In addition, assessment was made of the level of success in eliminating VPI relative to treatments utilized that were recommended by speech pathologists versus level of success when treatment other than that recommended by speech pathologists were used. For the 78 patients who received the treatment procedure recommended by speech pathologists, only 10 percent continued to demonstrate any clinically significant residual speech problem associated with VPI. However, for the 22 patients who received treatment other than that which had been recommended, 32 percent continued to demonstrate clinically significant speech problems associated with VPI. Data is presented on the success rate for correcting VPI relative to specific treatment recommendations including pharyngeal flap, palatal pushback, pharyngeal wall implant, tonsillectomy, prosthetic palatal lifts, and speech therapy.

Velopharyngeal function for speech after the Frolova primary palatoplasty technique.

OBJECTIVE: This study was undertaken by several members of the University of Florida Craniofacial Center to assess the results of palatoplasty performed by the method devised by Larisa Y. Frolova, M.D. in 1971. DESIGN: The assessment was based on evaluation of each subject's speech and velopharyngeal function through perceptual measures, nasometry, and video-nasendoscopy. SETTING: The study took place at the National Pediatric Center for Congenital Maxillofacial Pathology, Moscow, Russia, under the auspices and with the cooperation of Dr. Frolova, director of the program. SUBJECTS: One hundred twelve children (40 girls and 72 boys; age range, 4 to 10 years; mean age, 7.5 years) with repaired cleft palate who had undergone palatoplasty 2 to 4 years earlier and had no secondary surgery were randomly selected from the center's clinical files by the staff. Subjects with known conditions that could jeopardize normal speech development were excluded. METHODS: Each subject was assessed for speech and velopharyngeal function with a battery of perceptual measures and videonasendoscopy. RESULTS: The percentage of subjects judged to have normal resonance was 55.5%. An additional 9.5% of the subjects judged to be hyponasal increased the rate of nonhypernasal outcome to 64%. CONCLUSIONS: The Furlow double-Z palatoplasty has had an increasing rate of success (up to 87%), whereas the Frolova technique has a success rate of only 55% to 65%.

A methodology report of a randomized prospective clinical trial to assess velopharyngeal function for speech following palatal surgery.

Cleft lip and palate occurs in approximately 1 in every 750 live human births, making it one of the most common congenital malformations. Surgical closure of the palatal cleft does not always result in a velopharyngeal port capable of supporting normal speech. The University of Florida (UF), in collaboration with the University of São Paulo (USP), is engaging in a 5-year prospective, randomized controlled study to compare velopharyngeal function for speech outcomes between patients undergoing palatoplasty for complete unilateral cleft lip and palate performed using the von Langenbeck procedure with intravelar velarplasty and those receiving the Furlow double-reversing Z-plasty palatoplasty. The von Langenbeck procedure was selected as the time-tested standard against which the Furlow procedure could be judged. The Furlow procedure, a relatively new operation, has been reported to yield substantially higher rates of velopharyngeal competency for speech than have most other reported series and theoretically should result in less disturbance to midfacial growth. A total of 608 patients will be entered into one of two age categories. Inclusion of two age groups will allow a comparison of results between patients having surgery before 1 year of age (9-12 months) and patients undergoing surgery at approximately 1.5 years of age (15-18 months). Speech data will be collected and will be available for definitive analysis throughout the last 3 years of the study. Collection of preliminary growth data will require more than 5 years; growth analysis is anticipated to continue until all patients have reached maturity. The Hospital for Research and Rehabilitation of Patients with Cleft Lip and Palate at the University of São Paulo (USP-HPRLLP) in Bauru, Brazil, is uniquely situated for conducting this study. The well-equipped and modern facilities are staffed by well-trained specialists representing all disciplines in cleft-palate management. In addition, an already existing social services network throughout Brazil will ensure excellent follow-up of study cases. The clinical caseload at this institution currently exceeds 22,000, and more than 1200 new cases are added annually. This project represents a unique opportunity to obtain prospective data from a large number of subjects while controlling the variables that have traditionally plagued cleft-palate studies. This study is designed to determine which of the two proposed surgical procedures is superior in constructing a velum capable of affecting velopharyngeal competency for the development of normal speech.