Growth patterns between 0 to 36 months of age among U.S. children with orofacial cleft: A retrospective cohort study.

BACKGROUND: Little is known about how young children with orofacial cleft grow over time. OBJECTIVE: To characterize longitudinal growth patterns from 0-36 months of age in U.S. children with an orofacial cleft. DESIGN: A retrospective cohort study. PARTICIPANTS/SETTING: Children with cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP) who were <36 months of age at a hospital encounter between 2010-2019 (N=1334) were included. The setting was a U.S. tertiary care children's hospital with a cleft center that serves a 5-state region. MAIN OUTCOME MEASURE: Weight-for-age z-scores (WAZ) and length-for-age z-scores (LAZ). STATISTICAL ANALYSES PERFORMED: Longitudinal growth patterns were characterized using generalized linear mixed models to estimate mean WAZ and LAZ from 0 to 36 months of age. RESULTS: Growth in infants with cleft slowed dramatically in the first 3 to 4 months of life, rebounded with catch-up growth until 12 months of age for CL and CP and until 36 months for CLP. When comparing populations, children with any type of cleft demonstrated subpar growth compared to WHO standards. Growth deficits were more common in those with CLP and CP compared to those with CL. The intraclass coefficient (ICC) showed that most of the variability in the WAZ (65%) was between individuals while 35% was within an individual. The ICC for LAZ showed that most of the variability in the LAZ (74%) was between individuals while 26% was within an individual. The proportion of variance attributable to cleft type and/or comorbidities accounted for less than 5% of the variance for WAZ and LAZ. WAZ and LAZ were lower in children with comorbidities than those without comorbidities with cleft and WHO standards. CONCLUSION: Infants with CLP and CP, and cleft plus comorbidities have higher rates of poor growth than their peers with CL and no comorbidities, respectively.

Difficult intubation in syndromic versus nonsyndromic forms of micrognathia in children.

BACKGROUND: We investigated how syndromic versus nonsyndromic forms of micrognathia impacted difficult intubation outcomes in children. Primary outcome was the first-attempt success rate of tracheal intubation, secondary outcomes were number of intubation attempts and complications. We hypothesized that syndromic micrognathia would be associated with lower first-attempt success rate. METHODS: In micrognathic patients enrolled in the Pediatric Difficult Intubation Registry (08/2012-03/2019) we retrospectively compared demographic and clinical characteristics between children with nonsyndromic and syndromic micrognathia using standardized mean differences (SMD) and assessed the association of the presence of syndrome with the primary and secondary outcomes using propensity score matching analysis with and without matching for airway assessment findings. RESULTS: Nonsyndromic patients (628) were less likely to have additional airway abnormalities. Syndromic patients (216) were less likely to have unanticipated difficult intubation (2% vs. 20%, SMD 0.59). First-attempt success rates of intubation were: 38% in the syndromic versus 34% in the nonsyndromic group (odds ratio [OR] 1.18; 95% confidence intervals [95% CI] 0.74, 1.89; p = .478), and 37% versus 37% (OR 0.99; 95% CI 0.66, 1.48; p = .959). Median number of intubation attempts were 2 (interquartile range [IQR]: 1, 3; range: 1, 8) versus 2 (IQR: 1, 3; range 1, 12) (median regression coefficient = 0; 95% CI: -0.7, 0.7; p = .999) and 2 (IQR: 1, 3; range: 1, 12) versus 2 (IQR: 1, 3; range 1, 8) (median regression coefficient = 0; 95% CI: -0.5, 0.5; p = .999). Complication rates were 14% versus 22% (OR 0.6; 95% CI 0.34, 1.04; p = .07) and 16% versus 21% (OR 0.71; 95% CI 0.43, 1.17; p = .185). CONCLUSIONS: Presence of syndrome was not associated with lower first-attempt success rate on intubation, number of intubation attempts, or complication rate among micrognathic patients difficult to intubate, despite more associated craniofacial abnormalities. Nonsyndromic patients were more likely to have unanticipated difficult intubations, first attempt with direct laryngoscopy.

Feasibility and Acceptability of the Promoting Resilience in Stress Management-Parent (PRISM-P) Intervention for Caregivers of Children with Craniofacial Conditions.

OBJECTIVES: Few evidence-based psychosocial programs exist within craniofacial care. This study (a) assessed feasibility and acceptability of the Promoting Resilience in Stress Management-Parent (PRISM-P) intervention among caregivers of children with craniofacial conditions and (b) described barriers and facilitators of caregiver resilience to inform program adaptation. DESIGN: In this single-arm cohort study, participants completed a baseline demographic questionnaire, the PRISM-P program, and an exit interview. PARTICIPANTS: Eligible individuals were English-speaking legal guardians of a child <12-years-old with a craniofacial condition. INTERVENTION: PRISM-P included 4 modules (stress-management, goal-setting, cognitive-restructuring, meaning-making) delivered in 2 one-on-one phone or videoconference sessions 1-2 weeks apart. MAIN OUTCOME MEASURES: Feasibility was defined as >70% program completion among enrolled participants; acceptability was defined as >70% willingness to recommend PRISM-P. Intervention feedback and caregiver-perceived barriers and facilitators of resilience were summarized qualitatively. RESULTS: Twenty caregivers were approached and 12 (60%) enrolled. The majority were mothers (67%) of a child <1-year-old diagnosed with a cleft lip and/or palate (83%) or craniofacial microsomia (17%). Of these, 8 (67%) completed PRISM-P and 7 (58%) completed interviews; 4 (33%) were lost-to-follow-up before PRISM-P and 1 (8%) before the interview. Feedback was highly positive, with 100% willing to recommend PRISM-P. Perceived barriers to resilience included uncertainty about their child's health; facilitators included social support, parental identity, knowledge, and control. CONCLUSIONS: PRISM-P was acceptable among caregivers of children with craniofacial conditions but not feasible based on program completion rates. Barriers and facilitators of resilience support the appropriateness of PRISM-P for this population and inform adaptation.

A Cross-Sectional Study of the Nutritional Status of Infants with Orofacial Clefts in the First 6 Months of Life.

OBJECTIVE(S): To estimate nutritional status in a large cohort of infants with orofacial clefts in the US, overall and by cleft type from birth to 6 months of age. STUDY DESIGN: We conducted a cross-sectional study in infants with orofacial clefts by examining growth by month between birth and 6 months of age. Infants with at least one weight measurement at a single US regional tertiary care pediatric hospital with an interdisciplinary cleft team between 2010 and 2020 were included. We calculated the average weight-for-age z scores and weight-for-length z scores. We calculated the proportion of infants underweight and wasting with z scores below -2 SDs monthly from birth to 6 months of age. We used t tests to compare the distribution of weight for age z-score and weight for length z-score among children with orofacial clefts to a normal distribution. RESULTS: We included 883 infants with orofacial clefts. Compared with expected proportion of underweight infants (2.3%), a larger proportion of infants with orofacial clefts were underweight between birth and 1 month (10.6%), peaking between 2 and 3 months (27.1%), and remaining high between 5 and 6 months (16.3%). Compared with the expected proportion of infants with wasting (2.3%), a higher proportion of infants with orofacial clefts experienced wasting between birth and 1 month (7.3%), peaking between 2 and 3 months (12.8%), and remaining high between 5 and 6 months (5.3%). Similar findings were observed for all cleft types and regardless of comorbidities. CONCLUSION(S): A substantial proportion of infants with orofacial clefts compared with normative peers have malnutrition in the first 6 months of life in the US.

Accuracy and Reliability of 4D-CT and Flexible Laryngoscopy in Upper Airway Evaluation in Robin Sequence.

OBJECTIVES: To evaluate the performance of 4-dimensional computed tomography (4D-CT) in assessing upper airway obstruction (UAO) in patients with Robin sequence (RS) and compare the accuracy and reliability of 4D-CT and flexible fiber-optic laryngoscopy (FFL). STUDY DESIGN: Prospective survey of retrospective clinical data. SETTING: Single, tertiary care pediatric hospital. METHODS: At initial and 30-day time points, a multidisciplinary group of 11 clinicians who treat RS rated UAO severity in 32 sets of 4D-CT visualizations and FFL videos (dynamic modalities) and static CT images. Raters assessed UAO at the velopharynx and oropharynx (1 = none to 5 = complete) and noted confidence levels of each rating. Intraclass correlation and Krippendorff alpha were used to assess intra- and interrater reliability, respectively. Accuracy was assessed by comparing clinician ratings with quantitative percentage constriction (QPC) ratings, calculated based on 4D-CT airway cross-sectional area. Results were compared using Wilcoxon rank-sum and signed-rank tests. RESULTS: There was similar intrarater agreement (moderate to substantial) with 4D-CT and FFL, and both demonstrated fair interrater agreement. Both modalities underestimated UAO severity, although 4D-CT ratings were significantly more accurate, as determined by QPC similarity, than FFL (-1.06 and -1.46 vs QPC ratings, P = .004). Overall confidence levels were similar for 4D-CT and FFL, but other specialists were significantly less confident in FFL ratings than were otolaryngologists (2.25 and 3.92, P < .0001). CONCLUSION: Although 4D-CT may be more accurate in assessing the degree of UAO in patients with RS, 4D-CT and FFL assessments demonstrate similar reliability. Additionally, 4D-CT may be interpreted with greater confidence by nonotolaryngologists who care for these patients.

Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.

Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high-volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (p < .0001). U-shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (p < .0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (p < .0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U-shaped CP. The most common palatal morphology among those who died was an intact palate. U-shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.

Objective measurements for upper airway obstruction in infants with Robin sequence: what are we measuring? A systematic review.

STUDY OBJECTIVES: Identifying optimal treatment for infants with Robin sequence (RS) is challenging due to substantial variability in the presentation of upper airway obstruction (UAO) in this population. Objective assessments of UAO and treatments are not standardized. A systematic review of objective measures of UAO was conducted as a step toward evidence-based clinical decision-making for RS. METHODS: A literature search was performed in the PubMed and Embase databases (1990-2020) following PRISMA guidelines. Articles reporting on RS and UAO treatment were included if the following objective measures were studied: oximetry, polysomnography, and blood gas. Quality was appraised by the methodological index for nonrandomized studies (range: 0-24). RESULTS: A total of 91 articles met the inclusion criteria. The mean methodological index for nonrandomized studies score was 7.1 (range: 3-14). Polysomnography was most frequently used (76%) followed by oximetry (20%) and blood gas (11%). Sleep position of the infant was reported in 35% of studies, with supine position most frequently, and monitoring time in 42%, including overnight recordings, in more than half. Of 71 studies that evaluated UAO interventions, the majority used polysomnography (90%), of which 61% did not specify the polysomnography technique. Reported polysomnography metrics included oxygen saturation (61%), apnea-hypopnea index (52%), carbon dioxide levels (31%), obstructive apnea-hypopnea index (27%), and oxygen desaturation index (16%). Only 42 studies reported indications for UAO intervention, with oximetry and polysomnography thresholds used equally (both 40%). In total, 34 distinct indications for treatment were identified. CONCLUSIONS: This systematic review demonstrates a lack of standardization, interpretation, and reporting of assessment and treatment indications for UAO in RS. An international, multidisciplinary consensus protocol is needed to guide clinicians on optimal UAO assessment in RS. CITATION: Logjes RJH, MacLean JE, de Cort NW, et al. Objective measurements for upper airway obstruction in infants with Robin sequence: what are we measuring? A systematic review. J Clin Sleep Med. 2021;17(8):1717-1729.

4D Computed Tomography for Dynamic Upper Airway Evaluation in Robin Sequence.

Thorough assessment of dynamic upper airway obstruction (UAO) in Robin sequence (RS) is critical, but traditional evaluation modalities have significant limitations. Four-dimensional computed tomography (4D-CT) is promising in that it enables objective and quantitative evaluation throughout all phases of respiration. However, there exist few protocols or analysis tools to assist in obtaining and interpreting the vast amounts of obtained data. A protocol and set of data analysis tools were developed to enable quantification and visualization of dynamic 4D-CT data. This methodology was applied to a sample case at 2 time points. In the patient with RS, overall increases in normalized airway caliber were observed from 5 weeks to 1 year. There was, however, continued dynamic obstruction at all airway levels, though objective measures of UAO did improve at the nasopharynx and oropharynx. Use of 4D-CT and novel analyses provide additional quantitative information to evaluate UAO in patients with RS.

Longer upper airway lengths in Robin Sequence: A case-control study using computed tomography.

BACKGROUND: Direct laryngoscopy and intubation are often difficult in children with Robin Sequence. Previous research characterizing anatomic airway differences has focused on parameters influencing airway patency; there is a paucity of data pertaining to intubation trajectories and depth. Such information could impact airway management approaches and decrease the incidence of endotracheal tube malpositioning. AIM: The study goal was to examine whether longitudinal airway parameters pertaining to intubation are different in children with Robin Sequence compared with age-matched controls. METHOD: This case-control study compared patients with RS <4 years of age who had computed tomography scans of the head and neck to age- and sex-matched controls. Measurements were made of the nasopharynx, oropharynx, hypopharynx, tongue, hyoid, and the front teeth to vocal cord, nares to vocal cord, and nasion-basion distances. Statistical analysis was performed using multiple ANCOVA models with the categorical predictor of Robin Sequence vs control and potential covariates including subject height/length, weight, and age. RESULTS: Thirty-three patients with Robin Sequence and 33 control subjects were included. After controlling for subject height/length, mean front teeth to vocal cord distance was 1.2 cm longer (95% CI: 0.9 to 1.6 cm, P < .001) and mean nares to vocal cord distance was 0.8 cm longer (95% CI: 0.4 to 1.2 cm, P < .001) in patients with Robin Sequence than in controls. The tongue was positioned on average 0.5 cm higher (95% CI: 0.3 to 0.8, P < .001) and 0.9 cm more posterior (95% CI: 0.6 to 1.0 cm, P < .001) in cases than in controls. Moreover, in patients with Robin Sequence, the hyoid was positioned on average 0.5 cm more inferiorly (95% CI: 0.2 to 0.8 cm, P < .001) and 0.2 cm more posteriorly (95% CI: 0.1 to 0.4 cm, P < .01) than controls. CONCLUSION: In patients with Robin Sequence under 4 years of age, the mean front teeth to vocal cord distance was found to be 1.2 cm longer while the mean nares to vocal cord distance was found to be 0.8 cm longer controlling for subject length. Clinicians should account for these differences when selecting and placing endotracheal tubes, particularly those with a preformed bend.

The Trach Safe Initiative: A Quality Improvement Initiative to Reduce Mortality among Pediatric Tracheostomy Patients.

OBJECTIVE: To describe the Trach Safe Initiative and assess its impact on unanticipated tracheostomy-related mortality in outpatient tracheostomy-dependent children (TDC). METHODS: An interdisciplinary team including parents and providers designed the initiative with quality improvement methods. Three practice changes were prioritized: (1) surveillance airway endoscopy prior to hospital discharge from tracheostomy placement, (2) education for community-based nurses on TDC-focused emergency airway management, and (3) routine assessment of airway events for TDC in clinic. The primary outcome was annual unanticipated mortality after hospital discharge from tracheostomy placement before and after the initiative. RESULTS: In the 5 years before and after the initiative, 131 children and 155 children underwent tracheostomy placement, respectively. At the end of the study period, the institution sustained Trach Safe practices: (1) surveillance bronchoscopies increased from 104 to 429 bronchoscopies, (2) the course trained 209 community-based nurses, and (3) the survey was used in 488 home ventilator clinic visits to identify near-miss airway events. Prior to the initiative, 9 deaths were unanticipated. After Trach Safe implementation, 1 death was unanticipated. Control chart analysis demonstrates significant special-cause variation in reduced unanticipated mortality. DISCUSSION: We describe a system shift in reduced unanticipated mortality for TDC through 3 major practice changes of the Trach Safe Initiative. IMPLICATION FOR PRACTICE: Death in a child with a tracheostomy tube at home may represent modifiable tracheostomy-related airway events. Using Trach Safe practices, we address multiple facets to improve safety of TDC out of the hospital.

Bilateral Squamosal Suture Craniosynostosis Presenting with Abducens Nerve Palsy and Severe Papilledema.

BACKGROUND: Patients with single-suture or minor suture craniosynostosis are typically asymptomatic at early presentation; intervention is aimed at reducing the risk of elevated intracranial pressure and associated developmental sequelae. Patients may be symptomatic in cases of major multisuture syndromic synostoses or delayed diagnosis. Clinical presentation in this context may include headaches, papilledema, cognitive delay, or behavioral issues. Cranial nerve palsies are atypical symptoms of intracranial hypertension in this patient population. CASE DESCRIPTION: An 11-month-old, otherwise healthy girl presented with bilateral severe papilledema and left abducens nerve palsy owing to nonsyndromic near-complete bilateral squamosal suture synostosis with associated incomplete sagittal and right lambdoid synostoses. The patient underwent urgent open cranial expansion, with resolution of her papilledema and improvement in eye position and motility. CONCLUSIONS: Cranial nerve palsies may be presenting symptoms of intracranial hypertension in patients with craniosynostosis. Multidisciplinary evaluation and treatment is paramount for appropriate management.

Cervical Spine Injury From Unrecognized Craniocervical Instability in Severe Pierre Robin Sequence Associated With Skeletal Dysplasia.

Pierre Robin Sequence (PRS) can be associated with skeletal dysplasias, presenting with craniocervical instability and devastating spinal injury if unrecognized. The authors present the case of an infant with PRS and a type II collagenopathy who underwent multiple airway-securing procedures requiring spinal manipulation before craniocervical instability was identified. This resulted in severe cervical cord compression due to odontoid fracture and occipitoatlantoaxial instability. This case highlights the importance of early cervical spine imaging and cautious manipulation in infants with PRS and suspected skeletal dysplasia.

Distraction Osteogenesis Normalizes Mandibular Body-Symphysis Morphology in Infants With Robin Sequence.

PURPOSE: To evaluate changes in mandibular morphology in infants with Robin sequence (RS) after mandibular distraction osteogenesis (MDO) and compare the post-distraction morphology with that in infants without RS and infants with RS who had not undergone MDO. MATERIALS AND METHODS: Infants with RS treated with MDO were retrospectively evaluated over a 12-year period. All patients had pre-distraction and end-consolidation maxillofacial computed tomograms. Morphologic features of the mandible were divided into ramus and condyle, body and symphysis, and composite measurements. Post-distraction RS mandibular morphology was compared with pre-distraction morphology, as well as to age-matched infants without RS and age-matched infants with RS who had not undergone MDO. Comparisons were done using nonparametric paired-samples analyses. RESULTS: During the study period, 17 patients with RS treated with MDO met the inclusion criteria for the study. The mean ages at distraction and end-consolidation were 1.95 ± 3.24 and 8.46 ± 5.99 months, respectively. The post-MDO mandible was significantly different from the pre-MDO mandible with regard to the ramps-condyle unit and body-symphysis measurements, including development of a more parabolic mandibular arch form (P ≤ .001). Compared with age-matched non-RS infant mandibles, the post-distraction RS mandibles had similar morphologies. Compared with age-matched non-MDO RS mandibles, the post-distraction mandibles had significantly different morphologies anterior to the gonial angle, including a more parabolic arch form (P ≤ .006). CONCLUSIONS: MDO normalized mandibular morphology in infants with RS, with the greatest effect on measurements anterior to the gonial angle.

Defining mandibular morphology in Robin sequence: A matched case-control study.

Robin Sequence (RS) is classically defined as the triad of micrognathia, glossoptosis, and airway obstruction. While there remains significant debate over diagnostic criteria for severity, there is consensus regarding micrognathia as a defining feature of the condition. The purpose of this study was to compare mandibular morphology among infants and children with RS to infants and children without RS using maxillofacial computed tomography. Our hypothesis was that there are discrete morphologic differences between RS and non-RS mandibles. Our goal was to determine if there are defined and measureable differences in RS mandible shape that can be used in defining the sequence. We identified 20 cases with RS and 20 age- and sex-matched controls without RS. Linear, angular, and composite measurements were obtained for each patient. Cases had shorter mandibular sagittal lengths (-27%, p = 0.001), shorter inferior border arc lengths (-11.5%, p = 0.002), steeper gonial angles (+10.5%, p < 0.001), and narrower symphyseal angles (-11.5%, p < 0.001). Mandibular shape in RS was more rounded/elliptical (p < 0.001) and infants with RS had a significantly smaller submental cross-sectional area (-29.4%, p < 0.001). These shape differences anterior to the gonial angle of the mandible appear to be a defining morphologic feature in RS.

Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.

IMPORTANCE: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists regarding the diagnosis and evaluation of children with RS. An international, multidisciplinary consensus group was formed to begin to overcome this limitation. OBJECTIVE: To report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management. EVIDENCE REVIEW: Based on a literature review and expert opinion, a clinical consensus report was generated. FINDINGS: Because RS can occur as an isolated condition or as part of a syndrome or multiple-anomaly disorder, the diagnostic process for each newborn may differ. Micrognathia is hypothesized as the initiating event, but the diagnosis of micrognathia is subjective. Glossoptosis and upper airway compromise complete the primary characteristics of RS. It can be difficult to judge the severity of tongue base airway obstruction, and the possibility of multilevel obstruction exists. The initial assessment of the clinical features and severity of respiratory distress is important and has practical implications. Signs of upper airway obstruction can be intermittent and are more likely to be present when the infant is asleep. Therefore, sleep studies are recommended. Feeding problems are common and may be exacerbated by the presence of a cleft palate. The clinical features and their severity can vary widely and ultimately dictate the required investigations and treatments. CONCLUSIONS AND RELEVANCE: Agreed-on recommendations for the initial evaluation of RS and clinical descriptors are provided in this consensus report. Researchers and clinicians will ideally use uniform definitions and comparable assessments. Prospective studies and the standard application of validated assessments are needed to build an evidence base guiding standards of care for infants and children with RS.

Upper Airway Computed Tomography Measures and Receipt of Tracheotomy in Infants With Robin Sequence.

IMPORTANCE: Airway management in infants with Robin sequence is challenging. Objective upper airway measures associated with severe airway compromise requiring tracheotomy are needed to guide decision making. OBJECTIVES: To define objective upper airway measures in infants with Robin sequence from craniofacial computed tomography (CT) and to identify those measures in Robin sequence associated with tracheotomy. DESIGN, SETTING, AND PARTICIPANTS: A cohort study (2003 to 2014, over 1-year follow-up) of 37 infants with Robin sequence evaluated for surgical management and 37 selected age- and sex-matched controls without a craniofacial condition conducted in a pediatric institution's craniofacial center. MAIN OUTCOMES AND MEASURES: Define and compare CT-generated upper airway measures in these groups: infants with Robin sequence vs controls, and infants with Robin sequence with vs without tracheotomy. A negative difference signifies lower values for the Robin sequence and tracheotomy groups. Clinical data collected included age and height at time of CT scan, sex, tracheotomy presence, associated syndrome, and laboratory indicators of hypoventilation and hypoxemia. To evaluate interrater reliability, 2 raters performed each measurement in the Robin sequence group. RESULTS: In 74 infants, 17 of 28 measures were different between infants with Robin sequence and those in the control group. Tracheotomy was performed in 14 of 37 (38%) infants with Robin sequence. Infants with tracheotomy more commonly had associated syndromes (12 of 14 [86%] vs 11 of 23 [48%]) and a history of hypoventilation and hypoxemia (13 of 14 [93%] vs 15 of 23 [65%]). Five of the 11 measures associated with tracheotomy were reliable and simpler to measure with the following mean differences (95% CIs) between groups: tongue length, 0.87 (0.26 to 1.48); tongue position relative to palate, 0.83 (0.22 to 1.45); mandibular total length, -0.8 (-1.42 to -0.19); gonial angle, 0.71 (0.08 to 1.34); and inferior pogonial angle, 0.66 (0.02 to 1.29). Using a receiver operating characteristic analysis, a composite score of these 5 measures for predicting tracheotomy risk yielded an area under the curve of 0.83 and achieved 86% sensitivity and 74% specificity. CONCLUSIONS AND RELEVANCE: Computed tomography measures quantifying tongue position and mandibular configuration can identify infants with Robin sequence, and importantly, differentiate those who have severe upper airway compromise requiring tracheotomy. Following validation, these measures can be used for objective upper airway assessment and for expediting clinical decision-making in these challenging cases for which no such tools currently exist.

Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs.

BACKGROUND: Craniofacial microsomia is a common congenital condition for which children receive longitudinal, multidisciplinary team care. However, little is known about the etiology of craniofacial microsomia and few outcome studies have been published. In order to facilitate large, multicenter studies in craniofacial microsomia, we assessed the reliability of phenotypic classification based on photographs by comparison with direct physical examination. METHODS: Thirty-nine children with craniofacial microsomia underwent a physical examination and photographs according to a standardized protocol. Three clinicians completed ratings during the physical examination and, at least a month later, using respective photographs for each participant. We used descriptive statistics for participant characteristics and intraclass correlation coefficients (ICCs) to assess reliability. RESULTS: The agreement between ratings on photographs and physical exam was greater than 80 % for all 15 categories included in the analysis. The ICC estimates were higher than 0.6 for most features. Features with the highest ICC included: presence of epibulbar dermoids, ear abnormalities, and colobomas (ICC 0.85, 0.81, and 0.80, respectively). Orbital size, presence of pits, tongue abnormalities, and strabismus had the lowest ICC, values (0.17 or less). There was not a strong tendency for either type of rating, physical exam or photograph, to be more likely to designate a feature as abnormal. The agreement between photographs and physical exam regarding the presence of a prior surgery was greater than 90 % for most features. CONCLUSIONS: Our results suggest that categorization of facial phenotype in children with CFM based on photographs is reliable relative to physical examination for most facial features.

Optimizing Surgical Treatment of Internationally Adopted Children With Cleft Lip and/or Palate: Understanding the Family Experience.

OBJECTIVE: To understand the experience of families with children undergoing cleft surgery following adoption from a country outside the United States. To identify factors, including the timing of surgery, that influence family function throughout the surgical experience. DESIGN: Semistructured qualitative interviews were conducted with parents of internationally adopted children postrepair of cleft lip and/or cleft palate and coded by a multidisciplinary study team. Mixed methods were used to contextualize themes derived from the parent interviews. RESULTS: Twenty parent interviews were conducted, and four core themes were identified: (1) parental anxieties prior to surgery, (2) considerations for the timing of surgery, (3) impact of the surgical experience on the child and family, and (4) modifiable sociocontextual factors. Parents considered a strong child bond with at least one parent and the ability of the child to communicate basic needs to be important before undergoing surgery. In retrospect, parents generally felt that the surgical experience did not have a negative impact on their child or their families and that the surgical experience may have even facilitated bonding and attachment with their child. Acceleration of family bonding was expressed more often by parents of children who were adopted at older than 2 years. CONCLUSIONS: In our study, parents reported that cleft surgery soon after international adoption did not appear to impair child bonding or adjustment. Specific family and provider factors that could optimize the experience for families were identified.

Phenotypic sub-grouping in microtia using a statistical and a clinical approach.

The clinical presentation of microtia varies widely from minimal morphological abnormalities to complete absence of the ear. In this study we sought to identify and characterize sub-groups of microtia using a statistical and a clinical approach. Photographs of 86 ears were classified in relation to all the external ear components. We used cluster analysis and rater's clinical opinion to identify groups with similar phenotypes in two separate analyses. We used Cramer's Phi coefficient of association to assess the similarity among the clinician's groupings as well as among the statistical sub-phenotypic groups and each of the clinician's groupings. The cluster analysis initially divided the 86 ears into a more and a less severe group. The less severe group included two sub-groups that included ears classified as normal and a group that had very few anomalous components. The group of 48 more affected ears all had abnormalities of the helix crus; antihelix-stem, -superior crus and -inferior crus; and antitragus. These were further divided into 4 sub-phenotypes. There was a moderate degree of association among the raters' groupings (Cramer's Phi: 0.64 to 0.73). The statistical and clinical groupings had a lower degree of association (Cramer's Phi: 0.49 to 0.58). Using standardized characterization of structural abnormalities of the ear we identified six distinct phenotypic groups; correlations with clinicians' groupings were moderate. These clusters may represent groups of ear malformations associated with the same etiology, similar time of insult or target cell population during embryonic development. The results will help inform investigations on etiology.