Craig W. Senders

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Sagittal craniosynostosis is the most common form of craniosynostosis, affecting approximately one in 5,000 newborns. We conducted, to our knowledge, the first genome-wide association study for nonsyndromic sagittal craniosynostosis (sNSC) using 130 non-Hispanic case-parent trios of European ancestry (NHW). We found robust associations in a 120-kb region downstream of BMP2 flanked by rs1884302 (P = 1.13 × 10−14, odds ratio (OR) = 4.58) and rs6140226 (P = 3.40 × 10−11, OR = 0.24) and within a 167-kb region of BBS9 between rs10262453 (P = 1.61 × 10−10, OR = 0.19) and rs17724206 (P = 1.50 × 10−8, OR = 0.22). We replicated the associations to both loci (rs1884302, P = 4.39 × 10−31 and rs10262453, P = 3.50 × 10−14) in an independent NHW population of 172 unrelated probands with sNSC and 548 controls. Both BMP2 and BBS9 are genes with roles in skeletal development that warrant functional studies to further understand the etiology of sNSC.

Laser supraglottoplasty for laryngomalacia: are specific anatomical defects more influential than associated anomalies on outcome?

OBJECTIVE To evaluate different CO2 laser procedures on children with various types of laryngomalacia and determine the role of associated anomalies on the outcome. DESIGN Retrospective chart review. SETTING Academic tertiary referral center. PATIENTS Twenty-three children who underwent laser supraglottoplasty for laryngomalacia between 1991 and 1998 at the UC Davis Medical Center. INTERVENTIONS CO2 laser vaporization of redundant supraglottic mucosa of the aryepiglottic fold, arytenoid, and the epiglottis, or modification of the latter, either individually or in combination, based on the obstructing anatomy. OUTCOME MEASURES Immediate, short term, intermediate and long term relief of respiratory symptoms, feeding difficulties, effect of associated anomalies on outcome, effect of specific anatomic obstructing site and surgical procedure performed on outcome, and the incidence of complications inherent to the procedure. RESULTS Children without associated anomalies invariably did very well, with 78% immediately resolving their respiratory symptoms and 100% within a week. Twelve of the 14 patients with unfavorable immediate results (P<0.01) and all ten with short term unfavorable results (P<0.05) had neurologic or anatomic associated anomalies. Seven patients, all with associated anomalies, were considered surgical failures (P<0.05). These patients also had a significantly longer hospital stay (P<0.01). The presence of associated anomalies was significant (P<0.01) in determining surgical treatment of reflux or the need for an NG tube in treating feeding problems. The anatomic site of abnormality and the specific procedure performed did not affect the outcome. There were no serious complications inherent to this procedure. CONCLUSIONS Laser supraglottoplasty, in its different modalities, is a safe and effective treatment for all types of laryngomalacia, but children with associated neurologic or anatomic anomalies will have a more complicated immediate and short term course, as well as a significant incidence of failure. Gastroesophageal reflux is an important associated condition that requires investigation in these patients, and in severe cases will merit surgical procedures to manage. The high incidence of associated neuromuscular anomalies suggests that this component has an important role in the etiology of laryngomalacia.

Cleft palate and craniofacial teams in the United States and Canada : A national survey of team organization and standards of care

Objective This study is the first comprehensive national survey of the organization, function, and composition of cleft palate and craniofacial teams in the U.S. and Canada. Complete descriptions of cleft and craniofacial teams are not currently provided in the literature, and this study will provide an overview for health services research and policy use. Conducted by a national organization, this study examines teams in detail using a pretested and standardized methodology. Design All known (n = 296) North American cleft palate and craniofacial teams were contacted for team listing purposes using a self-assessment method developed by an interdisciplinary committee of national stature. Team clinical leaders classified their teams into several possible categories and provided data on team care. The response rate was 83.4% (n = 247). Results The distribution of listed teams was: 105 (42.5%) cleft palate teams, 102 (41.3%) craniofacial teams (including craniofacial teams that are both cleft palate and craniofacial teams), 12 (4.9%) geographically listed teams, and 28 (11.3%) other teams (including interim cleft palate teams, low-density cleft palate teams, and evaluation and treatment review cleft palate teams). Eighty-five percent of all teams systematically collected and stored clinical data on their teams patient population in the past year. Furthermore, 50% of all teams had a quality assurance program in place to measure treatment outcomes. Other findings presented include the annual number of face-to-face team meetings; new and follow-up patient censuses; and surgical rates for initial repair of cleft lip/palate, orthognathic/osteotomy procedures, and intracranial/craniofacial procedures. Conclusions Two of five North American teams classify themselves as having the capacity to provide both cleft palate and craniofacial care. An additional two of five teams limit their primary role to cleft palate care. Issues are raised regarding the distribution of teams, the regionalization of craniofacial services, health policy, and resource allocation.

Pathologic Analysis of Routine Tonsillectomy and Adenoidectomy Specimens

OBJECTIVES: Recent literature has suggested that histopathologic analysis of routine tonsillectomy and adenoidectomy (T&A) specimens may be unnecessary. This study investigates T&A specimen handling practices in the United States between 1989 and 1999. METHODS: Surveys were sent to 4715 members of the American Academy of Otolaryngology. Surveys assessed practice type, pathologic processing practices (full, gross, no pathology), and reasons for change. The authors also performed a retrospective analysis of 1583 pediatric T&A specimens for evidence of occult malignancy. RESULTS: Practice types were 80% private, 12% academic, 6% salaried, and 2% military. Chi squared analysis revealed a significant increase (P < 0.001) in respondents ordering “gross only” and “no pathology.” The retrospective analysis found no occult malignancies. CONCLUSIONS: There is a statistically significant increase in the number of otolaryngologists sending routine T&A specimens for “gross only” and “no pathology.” There was no correlation between the type of practice and changes in pathologic analysis performed.

Multicenter Interrater and Intrarater Reliability in the Endoscopic Evaluation of Velopharyngeal Insufficiency

OBJECTIVE To explore interrater and intrarater reliability (R (inter) and R (intra), respectively) of a standardized scale applied to nasoendoscopic assessment of velopharyngeal (VP) function, across multiple centers. DESIGN Multicenter blinded R (inter) and R (intra) study. SETTING Eight academic tertiary care centers. PARTICIPANTS Sixteen otolaryngologists from 8 centers. MAIN OUTCOME MEASURES Raters estimated lateral pharyngeal and palatal movement on nasoendoscopic tapes from 50 different patients. Raters were asked to (1) estimate gap size during phonation and (2) note the presence of the Passavant ridge, a midline palatal notch on the nasal surface of the soft palate, and aberrant pulsations. Primary outcome measures were R (inter) and R (intra) coefficients for estimated gap size, lateral wall, and palatal movement; kappa coefficients for the Passavant ridge, a midline palatal notch on the nasal soft palate, and aberrant pulsations were also calculated. RESULTS The R (inter) coefficients were 0.63 for estimated gap size, 0.41 for lateral wall movement, and 0.43 for palate movement; corresponding R (intra) coefficients were 0.86, 0.79, and 0.83, respectively. Interrater kappa values for qualitative features were 0.10 for the Passavant ridge; 0.48 for a notch on the nasal surface of the soft palate, 0.56 for aberrant pulsations, and 0.39 for estimation of gap size. CONCLUSIONS In these data, there was good R (intra) and fair R (inter) when using the Golding-Kushner scale for rating VP function based on nasoendoscopy. Estimates of VP gap size demonstrate higher reliability coefficients than total lateral wall, mean palate estimates, and categorical estimate of gap size. The reliability of rating qualitative characteristics (ie, the presence of the Passavant ridge, aberrant pulsations, and notch on the nasal surface of the soft palate) is variable.

Pediatric tracheotomy: Indications and decannulation outcomes

The objective of this study was to determine if there are differences in decannulation rates and duration of cannulation between pediatric patients undergoing tracheotomy for different indications.

Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis

Bilateral symmetry in vertebrates is imperfect and mild asymmetries are found in normal growth and development. However, abnormal development is often characterized by strong asymmetries. Coronal craniosynostosis, defined here as consisting of premature suture closure and a characteristic skull shape, is a complex trait. The premature fusion of the coronal suture can occur unilaterally associated with skull asymmetry (anterior plagiocephaly) or bilaterally associated with a symmetric but brachycephalic skull. We investigated the relationship between coronal craniosynostosis and skull bilateral symmetry. Three-dimensional landmark coordinates were recorded on preoperative computed tomography images of children diagnosed with coronal nonsyndromic craniosynostosis (N = 40) and that of unaffected individuals (N = 20) and analyzed by geometric morphometrics. Our results showed that the fusion pattern of the coronal suture is similar across individuals and types of coronal craniosynostosis. Shape analysis showed that skulls of bilateral coronal craniosynostosis (BCS) and unaffected individuals display low degrees of asymmetry, whereas right and left unilateral coronal craniosynostosis (UCS) skulls are asymmetric and mirror images of one another. When premature fusion of the coronal suture (without taking into account cranial dysmorphology) is scored as a qualitative trait, the expected relationship between trait frequency and trait unilateral expression (i.e. negative correlation) is confirmed. Overall, we interpret our results as evidence that the same biological processes operate on the two sides in BCS skulls and on the affected side in UCS skulls, and that coronal craniosynostosis is a quantitative trait exhibiting a phenotypic continuum with BCS displaying more intense shape changes than UCS.

Initial validation of a numeric zero to ten scale to measure children's state anxiety.

BACKGROUND:Although children experience physical and behavioral consequences from anxiety in many health care settings, anxiety assessment and subsequent management is not often performed because of the lack of clinically useful subjective scales. Current state anxiety scales are either observational or multidimensional self-report measures requiring significant clinician and patient time. Because anxiety is subjective, in this pilot study, we evaluated the validity of a self-report numeric 0–10 anxiety scale that is easy to administer to children in the clinical setting. METHODS:A descriptive correlation research design was used to determine the concurrent validity for a numeric 0–10 anxiety scale with the state portion of the State-Trait Anxiety Inventory for Children (STAIC). During clinic preoperative visits, 60 children, 7–13 yr, provided anxiety scores for the 0–10 scale and the STAIC pre- and posteducation. Simple linear regression and Pearson correlation were performed to determine the strength of the relationship. RESULTS:STAIC was associated with the anxiety scale both preeducation (β = 1.20, SE[β] = 0.34, F[1,58] = 12.74, P = 0.0007) and posteducation (β = 1.97, SE[β]) = 0.31, F[1,58] = 40.11, P < 0.0001). Correlations were moderate for pre-education (r = 0.424) and posteducation (r = 0.639). CONCLUSIONS:This initial study supports the validity of the numeric 0–10 anxiety self-report scale to assess state anxiety in children as young as 7 yr.

The efficacy of Perioperative steroid therapy in pediatric primary palatoplasty

OBJECTIVE To determine if perioperative steroid therapy benefits pediatric primary palatoplasty patients. DESIGN A prospective, double-blind, randomized trial with a placebo control. SETTING An academic medical center. PATIENTS Forty-five children undergoing primary repair of their cleft palate between 1989 and 1996 who were under the age of 48 months and without developmental delay or any associated syndrome. INTERVENTIONS Intravenous dexamethasone sodium phosphate (0.25 mg/kg) or a placebo (5% dextrose in water) immediately preoperatively and once every 8 hours for two doses postoperatively. MAIN OUTCOME MEASURES Postoperative airway distress, fever, oral fluid intake, discharge eligibility, and palatal fistula formation. RESULTS Perioperative steroid therapy significantly reduced the incidence of postoperative airway distress (p = .05) and postoperative fever (p = .02); postoperative oral fluid intake, discharge eligibility, and palatal fistula formation were not significantly affected. CONCLUSIONS Perioperative steroids effectively lower the risk of postoperative airway distress and postoperative fever in children undergoing the primary repair of their cleft palate. This finding favors a customary role for perioperative steroid therapy in pediatric primary palatoplasty.

Physician survey on the care of children with tracheotomy

A survey was distributed to practicing pediatric otolaryngologists in the United States, Canada, and England to determine the range of care of the pediatric tracheostomy patient. The questionnaire addressed the use of monitoring devices, intensive care unit usage, timing of first tracheotomy change, as well as parent education and home care. Of the 187 questionnaires issued, 65 responses were received, representing almost 1,500 tracheotomies per year. The results show a number of centers moving toward the establishment of a tracheostomy team, including a surgeon, specialty nurse, speech therapist, and others. As of recent years, most centers reported the increased use of monitoring devices along with earlier discharges made possible by better-trained parents.