A 35-year experience with syndromic cleft palate repair: operative outcomes and long-term speech function.

BACKGROUND: Associated comorbidities can put syndromic patients with cleft palate at risk for poor speech outcomes. Reported rates of velopharyngeal insufficiency (VPI) vary from 8% to 64%, and need for secondary VPI surgery from 23% to 64%, with few studies providing long-term follow-up. The purpose of this study was to describe our institutional long-term experience with syndromic patients undergoing cleft palatoplasty. METHODS: A retrospective review was conducted of all patients with syndromic diagnoses undergoing primary Furlow palatoplasty from 1975 to 2011. Outcomes included postoperative oronasal fistula (ONF) and need for secondary VPI surgery. Speech scores for verbal patients 5 years or older were collected via the Pittsburgh scale for speech assessment. Aggregate scores categorized the velopharyngeal mechanism as competent, borderline, or incompetent. Outcomes were analyzed by patient and operative factors. RESULTS: One hundred thirty-two patients were included with average age at repair of 20.7 months. Cleft type was 9% submucosal, 16% Veau class I, 50% class II, 12% class III, and 13% class IV. Forty-five syndromes were recorded, most commonly Stickler syndrome (n = 32) and 22q11.2 deletion syndrome [22q11.2DS (n = 19)]. Forty-four patients also had associated Pierre Robin sequence (PRS). The overall ONF rate was 4.5% and was highest in Veau class IV clefts (P = 0.048). Seventy-six patients were included in speech analysis, with an average age at last assessment of 10.4 years. Overall, 60.5% of patients had a competent velopharyngeal mechanism, 23.7% borderline, and 15.8% incompetent mechanism. Fifty percent of 22q11.2DS patients had borderline speech and none had competent speech, compared to 73.3% with Stickler syndrome (P = 0.01) and 71.4% of patients with associated PRS (P = 0.02). Secondary VPI surgery was performed in 11.4% of patients overall. Patients with PRS (13.6%) and with Stickler syndrome (15.6%) had secondary VPI surgery, compared to 31.6% of patients with 22q11.2DS (P = 0.01). CONCLUSIONS: This study demonstrates low rates of postoperative ONF after modified Furlow palatoplasty in syndromic patients. Speech outcomes were comparable to nonsyndromic patients at our institution, but patients with 22q11.2DS consistently had borderline-incompetent speech and a 3-fold higher incidence of secondary VPI surgery.

Perioperative risk factors for adverse airway events in patients undergoing cleft palate repair.

Objective : To establish the incidence of perioperative airway complications in a large series of pediatric patients undergoing palatoplasty and to identify which specific patient, procedural, and provider factors are associated with increased risk for perioperative adverse airway events (AAEs). Design : Retrospective chart review. Setting : Tertiary pediatric hospital. Patients : Included were 300 patients who underwent primary cleft palate repair using the modified Furlow technique between 2008 and 2011. Patients were 2 years or younger at the time of the operation. Main Outcome Measure(s) : Charts were reviewed for perioperative AAEs, which were defined as postoperative airway obstruction, oxyhemoglobin saturation ≤85% for ≥45 seconds, bronchospasm, laryngospasm, reintubation, and unplanned admission to the intensive care unit. Patient-specific factors (diagnosis of a craniofacial syndrome, Veau cleft type, preoperative pulmonary and airway history), procedural factors (operative time, anesthesia time, opioid dose, administration and reversal of neuromuscular blockers), and provider factors (experience, number of providers), were documented, and associations with AAEs were investigated. Results : AAEs occurred in 23% of patients overall and were significantly more common in syndromic patients (P = .003), patients with jaw or tracheal anomalies (P = .001), and patients with a history of difficult airway (P = .001). Other significant factors included prior history of difficult intubation (P = .05), surgeon (P = .02) and anesthesiologist experience (P = .05), and operative time (P = .02). Conclusions : Diagnosis of a craniofacial syndrome, a history of preoperative airway problems, and provider inexperience correlated with increased risk for airway complications after palatoplasty. Recognizing patients at risk for AAEs may permit improved preoperative planning to optimize surgical outcomes and minimize complications.

The Children's Hospital of Philadelphia modification of the Furlow double-opposing z-palatoplasty: long-term speech and growth results.

Of the 261 nonsyndromic patients we studied, over 90% had minimal or absent hypernasality, almost 86% had inconsistent or no nasal emission, and 95% had no articulation errors related to velar function. The patients with a Pittsburgh score indicating an incompetent velopharyngeal mechanism comprised only about 6% of the group. Ninety-four percent had a socially functional speech quality. Secondary surgery was done in 6.5% of patients and was done or was recommended in about 8% of patients. Patients with isolated cleft palate seemed to do less well, although their outcomes were not statistically different from those with complete unilateral and bilateral clefts. Relaxing incisions have kept our fistula rate to an acceptably low rate of 6.8%. No major soft palate dehiscences or hard palate flap losses have occurred. The speech outcomes we are achieving are improved over our historical results and compared with published reports using nondouble reversing z-palatoplasty techniques. Similar outcomes with the Furlow repair have been confirmed. Maxillary growth, occlusion, and the need for orthognathic surgery do not seem to be influenced by the CHOP modification of the Furlow double-opposing z-palatoplasty. These modifications facilitate a tension free-closure and a low fistula rate.

The Children's Hospital of Philadelphia modification of the Furlow double-opposing Z-palatoplasty: 30-year experience and long-term speech outcomes.

BACKGROUND: The purpose of this study was to evaluate the long-term outcomes following modified Furlow palatoplasty over a 30-year experience at a single institution. METHODS: A retrospective review was performed of all nonsyndromic patients undergoing primary modified Furlow palatoplasty at The Children's Hospital of Philadelphia between 1980 and 2011. Surgical success was evaluated by the rate of postoperative oronasal fistula, speech outcomes assessed at a minimum of age 5 years, and the need for secondary surgery for velopharyngeal dysfunction. Results were analyzed by surgeon, Veau cleft type, age at repair, and over time. RESULTS: Eight hundred sixty-nine patients who underwent modified Furlow repair were included in this study. The mean age at palatoplasty was 1.1 years, and the mean length of follow-up was 6.7 years. Repairs were performed by 11 surgeons, with 44.3 percent performed by a single surgeon. The overall oronasal fistula rate was 5.2 percent, and this improved significantly over the 30-year period (p = 0.003). Speech results at age 5 or older were available for 559 patients. Of these 559 patients, 72.4 percent had a competent velopharyngeal mechanism, and 21.5 percent had a borderline mechanism consistent with socially acceptable speech. Secondary pharyngeal surgery was indicated in 8.1 percent of patients. Speech results were stable (p = 0.10), and rates of secondary surgery for velopharyngeal dysfunction declined significantly over the study period (p = 0.005). CONCLUSIONS: The authors' 30-year experience with the modified Furlow palatoplasty shows stable speech results, decreasing rates of secondary surgery, and an acceptable rate of postoperative oronasal fistula.

Midface growth in patients with ectrodactyly-ectodermal dysplasia-clefting syndrome.

BACKGROUND: Ectrodactyly-ectodermal dysplasia-clefting syndrome is an autosomal dominant disorder involving abnormalities of the hands, feet, skin, and teeth and clefts of the lip and palate. Patients with this syndrome have abnormal facial features--namely, clefts of the lip and palate--and abnormal dentition, which could affect the growth of their midface region. The purpose of this study was to describe characteristics of midface growth in patients with this syndrome. METHODS: A retrospective chart review was conducted for eight postoperative patients seen at the cleft clinic at The Children's Hospital of Philadelphia between 1987 and 2004. Clinical notes and operative reports were reviewed. The surgeon's assessment and cephalometric measurements were analyzed. The cephalometric values were compared with Bolton standards for normal facial growth to determine deficiency. RESULTS: All eight patients displayed midface disproportion. Five of the eight were found to have some degree of midface retrusion. The upper anterior facial height was found to be deficient for half of the patients. Six patients had deficient lower facial height and four had deficient total face height. Two of these patients have undergone midface distraction osteogenesis. CONCLUSIONS: The authors' study identified a subset of patients within the cleft clinic who carry the diagnosis of ectrodactyly-ectodermal dysplasia-clefting syndrome. The patients tend to have poor dentition that, coupled with clefts of the lip and palate, inhibits normal midface growth and can require surgical correction. The need for orthognathic surgery seems to be greater than that seen in patients who have clefts of the lip and palate but do not carry the syndrome.

Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.

OBJECTIVE: To evaluate potential modifiers of the palatal phenotype in individuals with the 22q11.2 deletion syndrome. DESIGN: Data from 356 subjects enrolled in a study of the 22q11.2 deletion syndrome were used to evaluate potential modifiers of the palatal phenotype. Specifically, subjects with and without velopharyngeal inadequacy and/or structural malformations of the palate were compared with respect to gender, race, and genotype for variants of seven genes that may influence palatal development. METHODS: The chi-square test or Fisher exact test was used to evaluate the association between palatal phenotype and each potential modifier. Odds ratios and their associated 95% confidence intervals were used to measure the magnitude of the association between palatal phenotype, subject gender and race, and each of the bi-allelic variants. RESULTS: The palatal phenotype observed in individuals with the 22q11.2 deletion syndrome was significantly associated with both gender and race. In addition, there was tentative evidence that the palatal phenotype may be influenced by variation within the gene that encodes methionine synthase. CONCLUSIONS: Variation in the palatal phenotype observed between individuals with the 22q11.2 deletion syndrome may be related to personal characteristics such as gender and race as well as variation within genes that reside outside of the 22q11.2 region.

Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis.

OBJECTIVE: 22q11.2 deletion syndrome is the most common genetic cause of velopharyngeal dysfunction (VPD). Magnetic resonance imaging (MRI) is a promising method for noninvasive, three-dimensional (3D) assessment of velopharyngeal (VP) anatomy. The purpose of this study was to assess VP structure in patients with 22q11.2 deletion syndrome by using 3D MRI analysis. DESIGN: This was a retrospective analysis of magnetic resonance images obtained in patients with VPD associated with a 22q11.2 deletion compared with a normal control group. SETTING: This study was conducted at The Children's Hospital of Philadelphia, a pediatric tertiary care center. PATIENTS, PARTICIPANTS: The study group consisted of 5 children between the ages of 2.9 and 7.9 years, with 22q11.2 deletion syndrome confirmed by fluorescence in situ hybridization analysis. All had VPD confirmed by nasendoscopy or videofluoroscopy. The control population consisted of 123 unaffected patients who underwent MRI for reasons other than VP assessment. INTERVENTIONS: Axial and sagittal T1- and T2-weighted magnetic resonance images with 3-mm slice thickness were obtained from the orbit to the larynx in all patients by using a 1.5T Siemens Visions system. OUTCOME MEASURES: Linear, angular, and volumetric measurements of VP structures were obtained from the magnetic resonance images with VIDA image-processing software. RESULTS: The study group demonstrated greater anterior and posterior cranial base and atlanto-dental angles. They also demonstrated greater pharyngeal cavity volume and width and lesser tonsillar and adenoid volumes. CONCLUSION: Patients with a 22q11.2 deletion demonstrate significant alterations in VP anatomy that may contribute to VPD.

Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion?

OBJECTIVE: The purpose of this study was to examine the efficacy of tongue-lip adhesion (TLA) in the management of clinically significant airway obstruction associated with Pierre Robin sequence. DESIGN: The records of all children admitted to The Children's Hospital of Philadelphia with a diagnosis of Pierre Robin sequence were reviewed. Charts were reviewed for birth data, diagnosis, preoperative airway management methods, and surgical intervention. Records of infants undergoing TLA were analyzed for timing of surgery, operative technique, postoperative complications, length of hospital stay, and treatment outcome. RESULTS: Over the 28-year period 1971 to 1999, 107 patients (47 boys, 60 girls) meeting the criteria for Pierre Robin sequence were admitted for treatment. Of these, 74 (69.2%) were successfully managed by positioning alone. Surgical management of the airway was performed in the remaining 33 (30.8%) patients, 29 of whom underwent TLA and 4 of whom underwent tracheostomy. Dehiscence of the adhesion occurred in five patients (17.2%), two of whom subsequently required tracheostomy. Within the group of patients who underwent mucosal adhesion alone, the dehiscence rate was 41.6%. When the adhesion included muscular sutures, however, dehiscence was not observed in any patient. Of the 24 patients in whom primary TLA healed uneventfully, airway obstruction was successfully relieved in 20 (83.3%). Failure of a healed TLA to relieve the airway obstruction resulted in conversion to a tracheostomy in four patients. Six patients who underwent TLA (20.7%) ultimately required a tracheostomy; five of these patients (83.3%) were syndromic. Of patients requiring preoperative intubation, 42.9% ultimately required tracheostomy. CONCLUSION: TLA successfully relieves airway obstruction that is unresponsive to positioning alone in the majority of patients with Pierre Robin sequence and should therefore play an important role in the management of these infants.