Impact of Completing CLEFT-Q Scales That Ask About Appearance on Children and Young Adults: An International Study.

OBJECTIVE: To describe the impact of completing the CLEFT-Q appearance scales on patients with cleft lip and/or palate and to identify demographic and clinical characteristics and CLEFT-Q scores associated with reporting a negative impact. DESIGN: International cross-sectional survey. SETTING: Recruitment took place between October 2014 and November 2016 at 30 craniofacial clinics located in 12 countries. PATIENTS: Aged 8 to 29 years with cleft lip and/or palate. MAIN OUTCOME MEASURE(S): Participants were asked 4 questions to evaluate the impact of completing the field test version of a patient-reported outcome measure (the CLEFT-Q) that included 154 items, of which 79 (51%) asked about appearance (of the face, nose, nostrils, teeth, lips, jaws, and cleft lip scar). RESULTS: The sample included 2056 participants. Most participants liked answering the CLEFT-Q (88%) and the appearance questions (82%). After completing the appearance scales, most participants (77%) did not feel upset or unhappy about how they look, and they felt the same (67%) or better (23%) about their appearance after completing the questionnaire. Demographic and clinical variables associated with feeling unhappy/upset or worse about how they look included country of residence, female gender, more severe cleft, anticipating future cleft-specific surgeries, and reporting lower (ie, worse) scores on CLEFT-Q appearance and health-related quality-of-life scales. CONCLUSION: Most participants liked completing the CLEFT-Q, but a small minority reported a negative impact. When used in clinical practice, CLEFT-Q scale scores should be examined as soon as possible after completion in order that the clinical team might identify patients who might require additional support.

Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries.

BACKGROUND: Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. METHODS: Data were collected from patients aged 8-29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity. Normative CLEFT-Q values were computed for age, sex and cleft type. RESULTS: Analysis led to the refinement of an eating and drinking checklist and 12 scales measuring appearance (of the face, nose, nostrils, teeth, lips, jaws and cleft lip scar), health-related quality of life (psychological, social, school, speech distress) and speech function. All scales met the requirements of the Rasch model. Analysis to explore differential item functioning by age, sex and country provided evidence to support the use of a common scoring algorithm for each scale for international use. Lower (worse) scores on CLEFT-Q scales were associated with having a speech problem, being unhappy with facial appearance, and needing future cleft-related treatments, providing evidence of construct validity. Normative values for age, sex and cleft type showed poorer outcomes associated with older age, female sex and having a visible cleft. INTERPRETATION: The CLEFT-Q represents a rigorously developed instrument that can be used internationally to collect and compare evidence-based outcomes data from patients aged 8-29 years of age with cleft lip and/or palate.

Dacryocystitis As the Initial Presentation of Invasive Fungal Sinusitis in Immunocompromised Children.

Sino-orbital fungal infection is a rare, but life-threatening disease seen mainly in immunocompromised patients. While initial clinical impression may vary, dacryocystitis has rarely been described as the initial presenting sign. The authors present 2 pediatric cases of dacryocystitis as the initial sign of invasive fungal sinusitis. To their knowledge, this presenting sign has not been previously reported in the pediatric population. Management strategies and outcomes are discussed.

Parent, dentist, and orthodontist satisfaction following alveolar cleft repair using recombinant human bone morphogenic protein.

OBJECTIVE: Our aim was to evaluate dental/orthodontic outcomes for patients who underwent recombinant human bone morphogenic protein (rhBMP-2) alveolar cleft repair and to examine parental satisfaction following the procedure. Design Retrospective review. Setting Tertiary children's hospital. Participants Parents, dentists, and orthodontists completed satisfaction questionnaires. Main Outcome Measures Parent, dentist, and orthodontist satisfaction with the use of rhBMP-2 in alveolar cleft repair. Results Parent response rate was 71.4% (30/42). The dentist response rate was 60% (18/30). The orthodontist response rate was 53.3% (16/30). Parent and patient satisfaction was 93.3% and 83.3%, respectively. Of dentist respondents, 55.6% reported that the bone quality and alveolar ridge mucosal repair allowed for dental treatment. Of orthodontist respondents, 87.5% reported the graft enabled treatment, and 73.3% felt the graft prevented tooth root exposure and resorption. Conclusions Parents, dentists, and orthodontists are satisfied with outcomes when rhBMP-2 is used for alveolar cleft repair. The bone formed was reported as adequate to support dental and orthodontic treatment in most cases with few complications. Because of safety concerns over the use of this product in an off-label manner, further controlled studies are warranted.

Malignant hyperthermia deaths related to inadequate temperature monitoring, 2007-2012: a report from the North American malignant hyperthermia registry of the malignant hyperthermia association of the United States.

BACKGROUND: AMRA (adverse metabolic or muscular reaction to anesthesia) reports submitted to The North American Malignant Hyperthermia Registry of the Malignant Hyperthermia Association of the United States from 1987 to 2006 revealed a 2.7% cardiac arrest and a 1.4% death rate for 291 malignant hyperthermia (MH) events. We analyzed 6 years of recent data to update MH cardiac arrest and death rates, summarized characteristics associated with cardiac arrest and death, and documented differences between early and recent cohorts of patients in the MH Registry. We also tested whether the available data supported the hypothesis that risk of dying from an episode of MH is increased in patients with inadequate temperature monitoring. METHODS: We included U.S. or Canadian reports of adverse events after administration of at least 1 anesthetic drug, received between January 1, 2007, and December 31, 2012, with an MH clinical grading scale rank of "very likely MH" or "almost certain MH." We excluded reports that, after review, were judged to be due to pathologic conditions other than MH. We analyzed patient demographics, family and patient anesthetic history, anesthetic management including temperature monitoring, initial dantrolene dose, use of cardiopulmonary resuscitation, MH complications, survival, and reported molecular genetic DNA analysis of RYR1 and CACNA1S. A one-sided Cochran-Armitage test for proportions evaluated associations between mode of monitoring and mortality. We used Miettinen and Nurminen's method for assessing the relative risk of dying according to monitoring method. We used the P value of the slope to evaluate the relationship between duration of anesthetic exposure before dantrolene administration and peak temperature. We calculated the relative risk of death in this cohort compared with our previous cohort by using the Miettinen and Nurminen method adjusted for 4 comparisons. RESULTS: Of 189 AMRA reports, 84 met our inclusion criteria. These included 7 (8.3%) cardiac arrests, no successful resuscitations, and 8 (9.5%) deaths. Of the 8 patients who died, 7 underwent elective surgeries considered low to intermediate risk. The average age of patients who died was 31.4 ± 16.9 years. Five were healthy preoperatively. Three of the 8 patients had unrevealed MH family history. Four of 8 anesthetics were performed in freestanding facilities. In those who died, 3 MH-causative RYR1 mutations and 3 RYR1 variants likely to have been pathogenic were found in the 6 patients in whom RYR1 was examined. Compared to core temperature monitoring, the relative risk of dying with no temperature monitoring was 13.8 (lower limit 2.1). Compared to core temperature monitoring, the relative risk of dying with skin temperature monitoring was 9.7 (1.5). Temperature monitoring mode best distinguished patients who lived from those who died. End-tidal CO2 was the worst physiologic measure to distinguish patients who lived from those who died. Longer anesthetic exposures before dantrolene were associated with higher peak temperatures (P = 0.00056). Compared with the early cohort, the recent cohort had a higher percentage of MH deaths (4/291 vs 8/84; relative risk = 6.9; 95% confidence interval, 1.7-28; P = 0.0043 after adjustment for 4 comparisons). CONCLUSIONS: Despite a thorough understanding of the management of MH and the availability of a specific antidote, the risk of dying from an MH episode remains unacceptably high. To increase the chance of successful MH treatment, the American Society of Anesthesiologists and Malignant Hyperthermia Association of the U.S. monitoring standards should be altered to require core temperature monitoring for all general anesthetics lasting 30 minutes or longer.

Craniofacial and Velopharyngeal Dimensions in Infants 0-12 Months: Between- and Within-Group Differences Based on Age and Sex.

PURPOSE: The purpose of the present study is to (a) provide quantitative data on the growth of levator veli palatini (LVP), velopharyngeal (VP), and craniofacial dimensions in children under 12 months while controlling for corrected age and sex and (b) compare variability within age and sex groups. METHOD: Magnetic resonance imaging scans of 75 infants between 0 and 12 months were measured and divided into four age groups. These data were obtained as part of a larger retrospective study. Following exclusion criteria, scans were analyzed, and dependent variables were obtained. RESULTS: There was a statistically significant (p < .0001) difference between corrected age groups on LVP muscle, VP, and craniofacial variables while controlling for sex. Significant growth effects were observed for LVP length (p < .0001), extravelar length (p < .0001), intravelar length (p = .048), midline thickness (p = .0001), origin-origin distance (p < .0001), velar length (p < .0001), velar thickness (p = .003), nasion-sella turcica distance (p < .0001), sella turcica-basion distance (p < .0001), and hard palate length (p < .0001). Significant sex effects were observed for pharyngeal depth (p = .026) and effective VP ratio (p = .014). When age was treated as a continuous variable, similar results were observed for all variables except pharyngeal depth. Within-group comparisons revealed the most variability occurs between 3 and 5.99 months for LVP and craniofacial variables and between 9 and 11.99 months of age for VP variables. Male participants demonstrated greater variability than female participants. CONCLUSIONS: Differences were observed in LVP, VP, and craniofacial variables in children under 12 months while controlling for sex. Males demonstrated larger values and greater variability for most variables.

FACE-Q craniofacial module: Part 2 Psychometric properties of newly developed scales for children and young adults with facial conditions.

BACKGROUND: The FACE-Q Craniofacial Module is a patient-reported outcome measure designed for patients aged 8 to 29 years with conditions associated with a facial difference. In part 1, we describe the psychometric findings for the original CLEFT-Q scales tested in patients with cleft and noncleft facial conditions. The aim of this study was to examine psychometric performance of new FACE-Q Craniofacial Module scales. METHODS: Data were collected between December 2016 and December 2019 from patients aged 8 to 29 years with conditions associated with a visible or functional facial difference. Rasch measurement theory (RMT) analysis was used to examine psychometric properties of each scale. Scores were transformed from 0 (worst) to 100 (best) for tests of construct validity. RESULTS: 1495 participants were recruited with a broad range of conditions (e.g., birthmarks, facial paralysis, craniosynostosis, craniofacial microsomia, etc.) RMT analysis resulted in the refinement of 7 appearance scales (Birthmark, Cheeks, Chin, Eyes, Forehead, Head Shape, Smile), two function scales (Breathing, Facial), and an Appearance Distress scale. Person separation index and Cronbach alpha values met criteria. Three checklists were also formed (Eye Function, and Eye and Face Adverse Effects). Significantly lower scores on eight of nine scales were reported by participants whose appearance or functional difference was rated as a major rather than minor or no difference. Higher appearance distress correlated with lower appearance scale scores. CONCLUSION: The FACE-Q Craniofacial Module scales can be used to collect and compare patient reported outcomes data in children and young adults with a facial condition.