Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research.

Craniofacial microsomia (CFM) is a complex condition associated with microtia, mandibular hypoplasia, and preauricular tags. It is the second most common congenital facial condition treated in many craniofacial centers and requires longitudinal multidisciplinary patient care. The purpose of this article is to summarize current recommendations for clinical management and discuss opportunities to advance clinical research in CFM.

Cleft palate speech and velopharyngeal insufficiency: surgical approach.

Velopharyngeal insufficiency is the main morbidity associated with clefting of the secondary palate. Therefore, it is important to monitor speech production in all children with a history of cleft palate. Diagnosis and management of velopharyngeal insufficiency is an important function of the cleft palate team. The surgical approach used in the Craniofacial Center at Children's Hospital and Regional Medical Center, Seattle, Washington, USA is presented. Assessment of velopharyngeal function, as it relates to surgical intervention and measurement of outcome, is reviewed. Surgical management using Furlow palatoplasty and sphincter pharyngoplasty is discussed.

Rapid changes in protein synthesis and cell size in the cochlear nucleus following eighth nerve activity blockade or cochlea ablation.

Destruction of the cochlea causes secondary changes in the central auditory pathway through transynaptic regulation. These changes appear to be mediated by an activity-dependent process and can be detected in the avian auditory system as early as 30 minutes after deafferentation. We compared the early changes in cochlear nucleus neurons following deafferentation by cochlea ablation with those seen following activity deprivation by perilymphatic tetrodotoxin (TTX) exposure. Protein synthesis and size of large spherical cells in the anteroventral cochlear nucleus (AVCN) of 14-day-old gerbils were measured during the first 48 hours after the manipulations. Both cochlea ablation and TTX produced a reliable decrease in protein synthesis by AVCN neurons (30-40%) by 1 hour. The magnitude of change in tritiated leucine incorporation was similar at all survival times, in both experimental groups. In contrast to the rapid changes in protein synthesis, the decrease in cell size was first evident 18 hours after TTX exposure and 48 hours after cochlea ablation. There was no significant change in protein synthesis or cell size in control groups at any of the survival times. These findings are consistent with changes in the avian auditory system in response to deafferentation and TTX exposure. Cochlea ablation and TTX exposure induced similar transneuronal changes, supporting the hypotheses that activity of auditory afferents in young mammals plays a regulatory role in the metabolism and morphology of their target neurons in the central auditory pathway, and that early changes following destruction of the peripheral receptor are due to reduction of activity-dependent interactions of presynaptic and postsynaptic cells.

Cisplatin ototoxicity in developing gerbils.

This experimental study was undertaken to investigate the dose-related effect of cisplatin exposure in young gerbils (2 weeks of age) and explore the relationship between different methods used to monitor auditory function after exposure to cisplatin. Four groups of animals, including a control group, were used. The treatment groups, D1 (n = 6), D2 (n = 7) and D3 (n = 6), received one, two, and three doses of cisplatin (5 mg/kg/dose), respectively, at weekly intervals. Treated animals were first exposed to cisplatin at 2 weeks of age. Distortion product otoacoustic emissions (DPOAE) and auditory brainstem responses (ABR) were measured in treated and control animals at 6 weeks of age. The effects of dose and frequency on the DPOAE amplitude, as well as the relationship between the DPOAE and the ABR thresholds were analyzed. Animals in the D1 and D3 groups demonstrated significant elevation of DPOAE and ABR thresholds. Interestingly, animals in the D2 group demonstrated a bimodal distribution of DPOAE and ABR responses, with four animals severely affected and three not showing an effect. A tendency for a bimodal distribution of DPOAE and ABR responses was also observed in the D1 group, at frequencies below 8 kHz.

Age-related sensitivity to cisplatin ototoxicity in gerbils.

This study was undertaken to define the developmental period of maximal sensitivity to cisplatin ototoxicity in gerbils. Five groups were established based upon post-natal age (P) at exposure to cisplatin, P10 (n = 8), P14 (n = 8), P18 (n = 6), P22 (n = 7) and P42 (n = 7). Animals were given cisplatin, 1 mg/kg/day intraperitoneal for 4 days. In the first four groups, P10, P14, P18 and P22, distortion product otoacoustic emissions were measured at 45 days of age, when responses were expected to be developmentally stable. Distortion product grams and input-output functions were measured. There was a statistically significant difference only between P14 and P42 (P<0.01). There was a significant interaction of age and frequency in the P14 group only (P<0.01). A secondary analysis compared distortion product grams of P14 animals, exposed to cisplatin, and age-matched saline-treated animals (n = 6). There was a significant treatment effect. In summary, there was an effect of age on the cisplatin ototoxicity in gerbils. Also, there was an effect of the frequency on DPOAE levels in P14 gerbils. These data support the presence of a 'sensitive' period to cisplatin ototoxicity in gerbils.

Sphincter pharyngoplasty: speech outcome and complications.

OBJECTIVES: To assess the speech outcomes and complications in children who had undergone sphincter pharyngoplasty (SP) for management of velopharyngeal insufficiency (VPI). STUDY DESIGN: Retrospective chart review. METHODS: Charts from patients who had sphincter pharyngoplasty between January 1993 and June 1996 were reviewed. Syndrome diagnosis and presence of repaired cleft palate were reviewed. Preoperative speech assessment, videofluoroscopic and nasopharyngoscopic evaluations, age at time of surgery, and postoperative speech assessments were reviewed for all patients. Postoperative videofluoroscopy and nasopharyngoscopy were performed for those patients who had persistent VPI. Obstructive sleep symptoms were also assessed. RESULTS: Thirty patients were identified; six patients had no follow-up evaluation, leaving 24 patients included in this study. Average follow-up was 11.7 months (range, 2-35 mo). Velocardiofacial syndrome (VCFS) was the most commonly identified syndrome. Postoperatively, 15 of 24 patients (62.5%) had complete resolution of their VPI; five of 24 (20.8%) had significant improvement; one of 24 (4.2%) had minimal to no change; and three of 24 (12.5%) were hyponasal. Of the six patients with some degree of persistent VPI, three underwent revision surgery. All three patients had complete resolution of their VPI after revision surgery, resulting in an overall success rate of 18 of 24 (75%). CONCLUSIONS: Sphincter pharyngoplasty has wide application in the management of children with VPI, including those with VCFS. The procedure is readily modified to accommodate an individual patient's needs as determined by preoperative VPI evaluation. A modification of the procedure is described to minimize the risk of postoperative airway obstruction and hyponasality, both regarded as airway complications of sphincter pharyngoplasty.

Lymphatic malformations of the head and neck. A proposal for staging.

OBJECTIVE: To propose a staging system for patients with lymphatic malformations of the head and neck. DESIGN: Retrospective chart review. PATIENTS: Fifty-six patients were treated for lymphatic malformations from 1983 to 1993 at Children's Hospital and Medical Center, Seattle, Wash. The charts were reviewed for anatomic location of the lesion, preoperative and postoperative complications, number of procedures to control disease, long-term sequelae, and persistence of disease. Lesions were characterized as being unilateral or bilateral and suprahyoid and/or infrahyoid. The five patient groups were then compared with respect to the above categories. RESULTS: Preoperative complications reviewed include preoperative infection, respiratory embarrassment necessitating airway intervention, and feeding difficulties. Postoperative complications assessed were cranial nerve injury, wound infection, and seroma formation. Long-term sequelae included malocclusion, speech delay, and cosmetic deformity. The rate of persistent disease was also assessed. A staging system was developed based on a progression of extent of disease. Stage I patients (n = 12) had unilateral infrahyoid disease and a 17% incidence of complications overall. Stage II patients (n = 17) had unilateral suprahyoid disease and a 41% incidence of complications. Stage III patients (n = 15) had unilateral suprahyoid and infrahyoid disease and a complication rate of 67%. Stage IV patients (n = 5) with bilateral suprahyoid disease had a complication rate of 80%, while stage V patients (n = 6) with bilateral suprahyoid and infrahyoid disease had a 100% incidence of complications. CONCLUSION: Anatomic location of lymphatic malformations of the head and neck can be used to predict prognosis and outcome of surgical intervention.

Pseudoaneursym of the external carotid artery after tonsillectomy. A rare complication.

Tonsillectomy is one of the most common major surgical procedures performed in children in the United States. Otolaryngologists should be cognizant of the potential complications associated with the procedure. We report a case of a pseudoaneurysm of the external carotid artery that developed in a boy after elective adenotonsillectomy for management of obstructive sleep symptoms.

Cholesteatoma in children.

Cholesteatoma in children falls into two main categories: congenital and acquired. Though they present in different ways, both are potentially destructive lesions that are managed surgically. The goals of treatment are to eradicate keratinizing squamous epithelium from the temporal bone and to preserve or restore hearing. These children need to be followed closely by the pediatric otolaryngologist to prevent and control recurrent disease.

Changes in otoacoustic emissions and auditory brain stem response after cis-platinum exposure in gerbils.

Ototoxicity associated with cis-platinum administration commonly presents as hearing loss and tinnitus. The hearing loss is usually an irreversible, high-frequency sensorineural loss. Histologic studies in humans and animals suggest that the outer hair cells (OHCs) are most susceptible to cis-platinum. Evoked otoacoustic emissions (EOAE), as a measure of outer hair cell function, are potentially useful in following ototoxic insults involving OHCs. Distortion-product otoacoustic emissions (DPOAE) test frequency-specific regions of the cochlea and therefore may be particularly well suited for monitoring ototoxic injuries. We measured distortion product otoacoustic emissions, at f2 = 2, 4, 6, 8, 10, and 12 kHz, in gerbils after a single large dose of cis-platinum. Animals treated with saline served as controls. The findings were compared to auditory brain stem evoked response (ABR) thresholds, using tone pips of the same frequencies. The DPOAE and ABR thresholds were measured before treatment and again 2, 5, and 14 days after drug administration. The changes in DPOAE were compared with the changes in ABR. No treatment effect was noted in the 2-day group. Animals treated with cis-platinum demonstrated significant elevation of DPOAE and ABR thresholds compared with control animals at 5 and 14 days. There was no significant difference between the threshold changes in the 5- and 14-day groups.

Osteomyelitis of the skull base, etiology unknown.

OSB can occur in the absence of an obvious contiguous source of infection. When a patient has persistent unilateral headache, elevated ESR, and radiographic evidence of a lytic skull-base lesion, the clinician should consider OSB as a potential diagnosis. A baseline gallium scan should be obtained before biopsy, since surgery or trauma can also produce positive results on radionuclide scans. Technetium-phosphate bone scans should also be performed before any surgical manipulation. However, positive results from a gallium or technetium scan in this setting are not conclusive evidence of infection. At biopsy, the otolaryngologist-head and neck surgeon should consider sending a specimen to the microbiology department for culture in addition to the specimen sent for routine pathologic study; this procedure could minimize delay in diagnosis. Establishing the diagnosis in these patients without obvious contiguous infection can be difficult, demanding perseverance and an appropriate index of suspicion. Once the diagnosis is confirmed, intravenous antibiotic therapy should begin immediately. The duration of therapy must be individualized; patients may require from 4 weeks to several months of treatment. Response to therapy is indicated by resolution of symptoms, normalization of ESR, and reversal of abnormalities on radionuclide scans. Serial gallium scans are particularly useful in following response to treatment.

Results with Furlow palatoplasty in management of velopharyngeal insufficiency.

A retrospective study was undertaken to assess speech outcomes in patients undergoing Furlow palatoplasty. Since 1994, the authors have used the position of the levator veli palatini musculature to determine type of surgical intervention recommended for the management of velopharyngeal insufficiency. Furlow palatoplasty has been used in patients with clinical evidence of sagittally oriented levator veli palatini musculature. Forty-eight patients who underwent a Furlow palatoplasty between June of 1994 and August of 1998 were included. All patients underwent preoperative and postoperative perceptual speech analyses to describe velopharyngeal insufficiency severity, nasal air emissions, and resonance, and preoperative nasendoscopy to assess velopharyngeal gap size and palatal and lateral pharyngeal wall movement. Other patient characteristics considered included gender, age at time of surgery, previously repaired cleft palate, submucous cleft palate, and syndrome diagnosis. Speech outcomes were determined on the basis of postoperative perceptual speech analyses and were categorized in one of three ways: (1) complete resolution of velopharyngeal insufficiency, (2) substantial improvement of velopharyngeal insufficiency, and (3) audible residual velopharyngeal insufficiency. Complete resolution of velopharyngeal insufficiency was defined as normal resonance and an absence of nasal air emissions. Substantial improvement of velopharyngeal insufficiency was defined as an improvement of at least two categories in velopharyngeal insufficiency severity in those patients without complete resolution. Audible residual velopharyngeal insufficiency refers to patients with postoperative velopharyngeal insufficiency severity ratings of mild, moderate, or severe. The male:female ratio in the study was 27:21. Twelve patients were syndromic; three had velocardiofacial syndrome. The median age at surgery was 6.5 years (range, 2 to 22 years). The average duration of follow-up was 14.7 months (range, 1.3 to 58.6 months). Postoperatively, the severity of velopharyngeal insufficiency was rated as none in 19 of the 48 patients (39.6 percent), minimal in eight (16.7 percent), mild in six (12.5 percent), moderate in nine (18.75 percent), and severe in six (12.5 percent). Substantial improvement was seen in seven of the 29 patients without complete resolution. There was a significant association between male gender and complete resolution of velopharyngeal insufficiency (p < 0.05). Presence of syndrome and female gender was associated with audible residual velopharyngeal insufficiency (p < 0.05). The main complication was palatal fistula (two cases). In conclusion, most patients who underwent a Furlow palatoplasty had a complete resolution or substantial improvement of velopharyngeal insufficiency postoperatively, and there were few surgical complications.

Subglottic hemangioma: ten years' experience with the carbon dioxide laser.

Patients with subglottic hemangioma present with biphasic stridor during infancy. The natural history of this lesion is characterized by progressive airway obstruction during the proliferative phase of the lesion, followed by resolution of symptoms during the subsequent involutive phase. Although this is a benign neoplasm, it can be associated with a fatal outcome. Treatment options have been directed at maintaining airway patency during the proliferative phase. The senior author (G.B.H.) originally described the role of the carbon dioxide laser in management of these patients in 1980. Thirty-one patients were treated for subglottic hemangioma at The Children's Hospital, Boston, between 1980 and 1990. The 10-year experience of management of subglottic hemangioma with endoscopic vaporization using the carbon dioxide laser is reviewed to assess the efficacy of this technique.

Hemangiomas and vascular malformations of the airway.

Hemangiomas are the most common neoplastic growth affecting the pediatric airway. The expected natural history includes a period of rapid growth followed by spontaneous involution. These patients often require treatment of the hemangioma in order to avoid the consequences of airway obstruction. In contrast, vascular malformations do not undergo spontaneous resolution. The clinical course and treatment options for children with vascular malformations are quite different from those with hemangioma. The clinical presentation, evaluation, management options, and expected outcomes for both of these lesions are discussed in this article.

Acute right heart failure due to adenotonsillar hypertrophy.

A case is presented in which a child with underlying chronic lung disease, developed cor pulmonale and severe pulmonary hypertension as a result of adenotonsillar hypertrophy. His cardiac function acutely decompensated with an upper respiratory infection which exacerbated his obstructive sleep symptoms. Pre and postoperative documentation of cardiopulmonary function was critical in the peri-operative management of this patient. His severe pulmonary hypertension was stabilized using a nasopharyngeal airway and medications pre-operatively, in order to minimize his risk of anesthesia. He continued to require careful monitoring and manipulation of his medications after adenotonsillectomy and bronchoscopy. Serial echocardiograms documented the effects of the various interventions implemented in this patient. Severe acute right heart failure is an unusual complication of obstructive sleep apnea. However, this may become more common as more children survive prematurity and its associated chronic lung disease. These children may have subclinical lung disease and/or chronic pulmonary hypertension even after they no longer require supplemental oxygen and bronchodilators. Because these children are often tenuous, with regard to their cardiopulmonary function, they may be at increased risk to develop significant complications related to obstructive sleep apnea. It is important that a physician familiar with the management of pulmonary hypertension be involved in the care of these patients.

Results with sphincter pharyngoplasty and pharyngeal flap.

OBJECTIVE: To evaluate speech outcomes and complications of sphincter pharyngoplasty and pharyngeal flap performed for management of velopharyngeal insufficiency (VPI). DESIGN: Case series. SETTING: Tertiary care children's hospital. PATIENTS: All patients who underwent pharyngeal flap or sphincter pharyngoplasty from 1990 to 1995. METHODS: Perceptual speech analysis was used to assess severity of VPI, presence of nasal air emissions and quality of nasal resonance (hyper, hypo, or normal). Pre-operative measures of velopharyngeal function were based upon nasendoscopy and videofluoroscopic speech assessment. Recommendations for management were made by the attending surgeon. Complications of hyponasality and obstructive sleep symptoms (OSS) were noted. Patient characteristics were compared using univariate analysis. RESULTS: Sixteen patients underwent sphincter pharyngoplasty and 18 patients underwent superiorly based pharyngeal flap. Patients were similar in terms of lateral pharyngeal wall medial motion and palatal elevation. The groups were also similar with regard to VPI severity, though there was a trend for more severe VPI in patients undergoing sphincter pharyngoplasty than pharyngeal flap (50 vs. 33.3%, respectively). Patients with pharyngoplasty had a higher rate of resolution of VPI than those who had pharyngeal flap (50 vs. 22.2%, respectively), although this was not statistically significant. Post-operative hyponasality and obstructive sleep symptoms were present in both groups. However, only patients who underwent PF and had postoperative OSS had obstructive sleep apnea (OSA). CONCLUSIONS: There were no detectable anatomic differences between treatment groups implying that treatment selection during the study period was not guided by strict anatomic criteria. Sphincter pharyngoplasty may have a higher success rate with a lower risk of OSS.

Airway management in children with craniofacial anomalies.

Craniofacial anomalies (CFA) predispose children to airway obstruction. A retrospective study was conducted to describe airway intervention required to manage patients with craniofacial syndromes and diseases involving the midface and mandible (i.e., Pierre Robin, Apert, Treacher Collins, Saethre-Chotzen, CHARGE, Nager, Stickler, Goldenhar, and Pfeiffer). The type of airway intervention, duration of intervention, and associated physical and medical conditions were evaluated. One hundred nine patients had charts available for review and met inclusion criteria. Sixty-five of these patients required airway management, most commonly in the first month of life, ranging from positioning to tracheotomy. Nineteen patients required a tracheotomy. Associated medical conditions and feeding difficulties were associated with airway obstruction. This study evaluates factors that predispose children with CFA to have airway problems that need treatment, as well as the types of airway management that are necessary.