The Development of a European Multidisciplinary Cleft Lip and Palate Registry by the European Reference Network CRANIO: Experiences, Barriers, And Facilitators.

The European Reference Network for Rare Craniofacial Aanomalies and Ear-Nose-Throat disorders aims to improve care for patients with such afflictions, including cleft lip and palate (CL/P) across Europe. Cleft treatment remains varied throughout European centers, inhibiting meaningful comparison of treatment outcomes. To overcome these issues, a European-wide common CL/P dataset and registry was developed, facilitating standardized treatment endpoints and outcome measures for international comparison and benchmarking of CL/P centers. Questionnaires and semi-structured interviews were used to determine the set-up of the registry. Previous CL/P initiatives were analyzed to create an initial dataset, refined through consensus meetings. In total, 87 cleft specialists working in specialized CL/P centers from 16 European nations participated. Consensus on a common dataset was reached. A "Level 1" dataset, with mandatory clinical and patient-reported outcome measures, and "Level 2" dataset with additional outcome measures. Finally, 2 dashboards were developed for data dissemination. The development of the European CL/P common dataset and registry tackled challenges with resource disparities, variations in specialists within CL/P teams, regulatory differences in patient data usage, patient-reported outcome measures availability in European languages, and use of assessment tools. This study described the successful development of the European Reference Network for Rare Craniofacial Aanomalies and Ear-Nose-Throat disorders CL/P common dataset and registry. This achievement will help improve patient care and outcomes for patients with CL/P in Europe. Furthermore, this study provides useful information for initiatives with similar aims.

Most Efficient and Meaningful Patient-Reported Appearance Assessment in Different Cleft Types and Age Groups with CLEFT-Q.

BACKGROUND: The CLEFT-Q, a questionnaire developed and validated specifically for cleft patients, contains seven appearance scales. The International Consortium of Health Outcomes Measurement (ICHOM) has incorporated only some CLEFT-Q appearance scales in the Standard Set to minimize burden. This study evaluates which appearance scales provide the most meaningful information in the different cleft types at specific ages, for the most efficient cleft appearance outcome assessment. METHODS: Within this international multicenter study, outcomes of the seven appearance scales were collected, either as part of the ICHOM Standard Set, or as part of the field test study performed to validate the CLEFT-Q. Analyses were performed in separate age groups and cleft types, and involved univariate regression analyses, trend analyses, t tests, correlations, and floor and ceiling effects. RESULTS: A total of 3116 patients were included. Scores for most appearance scales showed a downward trend by age group, with the exception of the Teeth and Jaw scales. In all cleft types, several scales correlated strongly with each other. No floor effects were observed, but ceiling effects were found in several scales in different age groups, most often in the CLEFT-Q Jaw scale. CONCLUSIONS: A proposition for the most meaningful and efficient appearance outcome assessment in cleft patients is made. It was composed so that recommendations are of value for different cleft protocols and initiatives. Suggestions for the use of scales in the ICHOM Standard Set at different ages are given, and also from a clinical perspective. Use of the CLEFT-Q Scar, Lips, and Nose scales will provide additional relevant information.

What is the optimal assessment of speech? A multicentre, international evaluation of speech assessment in 2500 patients with a cleft.

OBJECTIVES: Speech problems in patients with a cleft palate are often complex and multifactorial. Finding the optimal way of monitoring these problems is challenging. The International Consortium of Health Outcomes Measurement (ICHOM) has developed a set of standardised outcome measures at specific ages for patients with a cleft lip and/or palate, including measures of speech assessment. This study evaluates the type and timing of speech outcome measures currently included in this ICHOM Standard Set. Additionally, speech assessments in other cleft protocols and initiatives are discussed. DESIGN, SETTING AND PARTICIPANTS: An international, multicentre study was set up including centres from the USA and the Netherlands. Outcomes of clinical measures and Patient Reported Outcome Measures (PROMs) were collected retrospectively according to the ICHOM set. PROM data from a field test of the CLEFT-Q, a questionnaire developed and validated for patients with a cleft, were collected, including participants from countries with all sorts of income statuses, to examine the value of additional moments of measurement that are used in other cleft initiatives.Data from 2500 patients were included. Measured outcomes contained univariate regression analyses, trend analyses, t-tests, correlations and floor and ceiling effects. RESULTS: PROMs correlated low to moderate with clinical outcome measures. Clinical outcome measures correlated low to moderate with each other too. In contrast, two CLEFT-Q Scales correlated strongly with each other. All PROMs and the Percent Consonants Correct (PCC) showed an effect of age. In patients with an isolated cleft palate, a ceiling effect was found in the Intelligibility in Context Scale. CONCLUSION: Recommendations for an optimal speech outcome assessment in cleft patients are made. Measurement moments of different cleft protocols and initiatives are considered in this proposition. Concerning the type of measures, adjustment of the current PCC score outcome seems appropriate. For centres with adequate resources and specific interest in research, translation and validation of an upcoming tool, the Cleft Audit Protocol for Speech Augmented, is recommended.

Effect of Midface Surgery on Ocular Outcomes in Patients with Orbital and Midface Malformations.

(1) Background: Orbital and midface malformations occur in multiple craniofacial disorders. Depending on the deformity, surgical corrections include orbital box osteotomy (OBO), Le Fort III (LFIII), monobloc (MB), and facial bipartition (FB). The aim of this study was to determine the effect of these procedures on ocular outcomes. (2) Methods: A retrospective analysis was performed. All patients with craniofacial disorders who had previously undergone midface surgery were included. The Wilcoxon signed ranks test was used for statistical analysis. (3) Results: In total, 63 patients were included: two patients were treated by OBO, 20 by LFIII, 26 by MB, and 15 by FB. Pre-operatively, strabismus was present in 39 patients (61.9%), in whom exotropia was most common (n = 27; 42.9%), followed by esotropia (n = 11; 17.5%). Postoperatively, strabismus significantly worsened (p = 0.035) in the overall population (n = 63). Pre-operative binocular vision (n = 33) was absent in nine patients (27.3%), poor in eight (24.2%), moderate in 15 (45.5%), and good in one (3.0%). Postoperatively, binocular vision significantly improved (p < 0.001). Before surgery, the mean visual acuity (VA) in the better eye was 0.16 LogMAR (Logarithm of the Minimum Angle of Resolution), and 0.31 LogMAR in the worse eye. Furthermore, pre-operative astigmatism was present in 46 patients (73.0%) and hypermetropia in 37 patients (58.7%). No statistical difference was found for VA (n = 51; p = 0.058) postoperatively. (4) Conclusions: Midface surgery has a direct and indirect substantial effect on several ocular outcomes. This study emphasizes the importance of appropriate ophthalmological evaluation in patients with craniofacial disorders undergoing midface surgery.

The Development, Deployment, and Evaluation of the CLEFT-Q Computerized Adaptive Test: A Multimethods Approach Contributing to Personalized, Person-Centered Health Assessments in Plastic Surgery.

BACKGROUND: Routine use of patient-reported outcome measures (PROMs) and computerized adaptive tests (CATs) may improve care in a range of surgical conditions. However, most available CATs are neither condition-specific nor coproduced with patients and lack clinically relevant score interpretation. Recently, a PROM called the CLEFT-Q has been developed for use in the treatment of cleft lip or palate (CL/P), but the assessment burden may be limiting its uptake into clinical practice. OBJECTIVE: We aimed to develop a CAT for the CLEFT-Q, which could facilitate the uptake of the CLEFT-Q PROM internationally. We aimed to conduct this work with a novel patient-centered approach and make source code available as an open-source framework for CAT development in other surgical conditions. METHODS: CATs were developed with the Rasch measurement theory, using full-length CLEFT-Q responses collected during the CLEFT-Q field test (this included 2434 patients across 12 countries). These algorithms were validated in Monte Carlo simulations involving full-length CLEFT-Q responses collected from 536 patients. In these simulations, the CAT algorithms approximated full-length CLEFT-Q scores iteratively, using progressively fewer items from the full-length PROM. Agreement between full-length CLEFT-Q score and CAT score at different assessment lengths was measured using the Pearson correlation coefficient, root-mean-square error (RMSE), and 95% limits of agreement. CAT settings, including the number of items to be included in the final assessments, were determined in a multistakeholder workshop that included patients and health care professionals. A user interface was developed for the platform, and it was prospectively piloted in the United Kingdom and the Netherlands. Interviews were conducted with 6 patients and 4 clinicians to explore end-user experience. RESULTS: The length of all 8 CLEFT-Q scales in the International Consortium for Health Outcomes Measurement (ICHOM) Standard Set combined was reduced from 76 to 59 items, and at this length, CAT assessments reproduced full-length CLEFT-Q scores accurately (with correlations between full-length CLEFT-Q score and CAT score exceeding 0.97, and the RMSE ranging from 2 to 5 out of 100). Workshop stakeholders considered this the optimal balance between accuracy and assessment burden. The platform was perceived to improve clinical communication and facilitate shared decision-making. CONCLUSIONS: Our platform is likely to facilitate routine CLEFT-Q uptake, and this may have a positive impact on clinical care. Our free source code enables other researchers to rapidly and economically reproduce this work for other PROMs.

Optimizing the Psychosocial Function Measures in the International Consortium for Health Outcomes Measurement Standard Set for Cleft.

BACKGROUND: To ensure the feasibility of implementing PROMs in clinical practice, they must be continually appraised for undue burden placed on patients and clinicians and their usefulness for decision-making. This study assesses correlations between the CLEFT-Q psychosocial scales in the International Consortium for Health Outcomes Measurement Standard Set for cleft and explores their associations with patient characteristics and psychosocial care referral. METHODS: Spearman correlation coefficients were calculated for CLEFT-Q psychological function, social function, school function, face, speech function, and speech-related distress scales. Logistic regressions were used to assess the association of cleft phenotype, syndrome, sex, and adoption status on scale scores and clinical referral to psychosocial care for further evaluation and management. RESULTS: Data were obtained from 3067 patients with cleft lip and/or palate at three centers. Strong correlations were observed between social function and psychological function (r > 0.69) and school function (r > 0.78) scales. Correlation between school function and psychological function scales was lower (r = 0.59 to 0.68). Genetic syndrome (OR, 2.37; 95% CI, 1.04 to 5.41), psychological function (OR, 0.92; 95% CI, 0.88 to 0.97), school function (OR, 0.94; 95% CI, 0.90 to 0.98), and face (OR, 0.96; 95% CI, 0.94 to 0.98) were significant predictors for referral to psychosocial care. CONCLUSIONS: Because social function as measured by the CLEFT-Q showed strong correlations with both school and psychological function, its additional value for measuring psychosocial function within the Standard Set is limited, and it is reasonable to consider removing this scale from the International Consortium for Health Outcomes Measurement Standard Set for cleft.

Prenatal Ultrasound Parameters of Twins With Sagittal Suture Craniosynostosis Question Mechanical Constraint as the Leading Cause.

BACKGROUND: Multiple pregnancy is a known predisposing factor for sagittal suture synostosis, and intrauterine constraint has been suggested as a potential cause. This study evaluates prenatal images of single and multiple pregnancies of children with sagittal suture synostosis to assess the possible pathogenesis. MATERIALS AND METHODS: Prenatal ultrasound data of scaphocephaly twins treated at Erasmus MC was retrieved retrospectively. The head circumference, cephalic index (CI), and biparietal diameter (BPD) were analyzed. Data were compared with the nonaffected sibling, singletons with scaphocephaly, and to general fetal growth reference values. RESULTS: Data of 8 twin pregnancies with 10 cases of scaphocephaly was gathered. For the head circumference no difference was found between affected fetuses and reference values throughout pregnancy. For the BPD a reduced growth was found, compared with control values. The growth curve for the CI of the affected twins is lower from the start and declines over time. When comparing affected fetuses to nonaffected fetuses, the same differences for the BPD and CI were found as compared with controls. No differences in growth parameters were found between the nonaffected siblings and reference values, nor between the affected scaphocephaly twins and singletons with scaphocephaly. CONCLUSIONS: Scaphocephaly in twin pregnancy develops early on in pregnancy, similar to singleton pregnancy, making the theory of constraint as a cause less likely. The development of scaphocephaly in twins is likely to be attributed to the same disturbed developmental processes in suture development as in singletons, and not to mechanical constraint.

Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis.

BACKGROUND: The aim of this study was to describe the ophthalmic abnormalities and their prevalence in craniosynostosis prior to craniofacial surgery. METHODS: A systematic search was conducted on Medline OVID, Embase, Cochrane, Google Scholar, Web of Science Core Collection. Inclusion criteria were English papers, children aged <18 years with non-syndromic and syndromic craniosynostosis, case reports, case series, and case-control studies. A system of domains was established consisting of an anatomic and functional ophthalmic domain. A meta-analysis of single proportions was carried out using random effects model and pooled mean proportions with 95% confidence intervals (CI) were calculated. RESULTS: Thirty-two papers analyzing 2027 patients were included. Strabismus was the most common anomaly in non-syndromic craniosynostosis: Horizontal strabismus was highest prevalent in unicoronal craniosynostosis (UCS) 19% (95% CI 9-32), followed by vertical strabismus 17% (95% CI 5-33). In syndromic craniosynostosis, horizontal strabismus was most prevalent in Crouzon syndrome 52% (95 CI 26-76), followed by Apert syndrome 50% (95% CI 42-58). Vertical strabismus was most prevalent in Saethre-Chotzen 60% followed by Muenke's syndrome 36%. Furthermore, astigmatism was the second most reported outcome in non-syndromic craniosynostosis and highest prevalent in UCS 35% (95% CI 21-51). In syndromic craniosynostosis, astigmatism was most frequently seen in Crouzon syndrome 43% (95% CI 22-65), followed by Apert syndrome 34% (95% CI 14-58). Moreover, in syndromic craniosynostosis, 5-40% had a decrease in visual acuity (VA) ≤ 0.3 LogMAR in the better eye and 11-65% had a VA ≤ 0.3 LogMAR in at least one eye. DISCUSSION: This review demonstrates the high prevalence of ocular anomalies in non-syndromic and syndromic craniosynostosis. A multidisciplinary and systematic approach is needed for the screening and optimal treatment of these conditions in a timely manner.

Cerebral Blood Flow of the Frontal Lobe in Untreated Children with Trigonocephaly versus Healthy Controls: An Arterial Spin Labeling Study.

BACKGROUND: Craniofacial surgery is the standard treatment for children with moderate to severe trigonocephaly. The added value of surgery to release restriction of the frontal lobes is unproven, however. In this study, the authors aim to address the hypothesis that the frontal lobe perfusion is not restricted in trigonocephaly patients by investigating cerebral blood flow. METHODS: Between 2018 and 2020, trigonocephaly patients for whom a surgical correction was considered underwent magnetic resonance imaging brain studies with arterial spin labeling to measure cerebral perfusion. The mean value of cerebral blood flow in the frontal lobe was calculated for each subject and compared to that of healthy controls. RESULTS: Magnetic resonance imaging scans of 36 trigonocephaly patients (median age, 0.5 years; interquartile range, 0.3; 11 female patients) were included and compared to those of 16 controls (median age, 0.83 years; interquartile range, 0.56; 10 female patients). The mean cerebral blood flow values in the frontal lobe of the trigonocephaly patients (73.0 ml/100 g/min; SE, 2.97 ml/100 g/min) were not significantly different in comparison to control values (70.5 ml/100 g/min; SE, 4.45 ml/100 g/min; p = 0.65). The superior, middle, and inferior gyri of the frontal lobe showed no significant differences either. CONCLUSIONS: The authors' findings suggest that the frontal lobes of trigonocephaly patients aged less than 18 months have a normal cerebral blood flow before surgery. In addition to the very low prevalence of papilledema or impaired skull growth previously reported, this finding further supports the authors' hypothesis that craniofacial surgery for trigonocephaly is rarely indicated for signs of raised intracranial pressure or restricted perfusion for patients younger than 18 months. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Emotional and Behavioral Problems in Children With a Cleft Lip With or Without Palate or an Infantile Hemangioma.

OBJECTIVE: Life can be challenging for children with a visible difference due to a medical condition, and they might be at risk for emotional and behavioral problems. This study examines emotional and behavioral problems in children with a cleft lip with or without palate (CL ± P) or an infantile hemangioma (IH) in relation to the visibility of the condition, the presence of additional condition-related problems, and parental affect. SETTING: This cross-sectional study took place in an academic medical hospital in the Erasmus MC Sophia Children's Hospital, the Netherlands. PARTICIPANTS: A total of 309 parents (mean age = 40.34, 44.00% male) of 182 children with CL ± P and 48 parents (mean age = 39.21, 37.50% male) of 33 children with an IH completed questionnaires. Children were 1.5 to 12 years old. RESULTS: Parents reported fewer child emotional and behavioral problems compared to normative data. Problems reported were mainly related to learning difficulties and parent gender, while visibility of the condition had no significant influence. Parental negative affect was related to child internalizing problems. Parental positive affect was not related to any of the outcome measures. CONCLUSIONS: Parents reported fewer problems for their children compared to normative data. This is inconsistent with previous research, showing similar or worse scores for these children compared to peers. Our findings may be explained by a protective parenting style, a response shift in parents, or problems developing at a later point in life.

Disappointing results of spring-assisted cranial vault expansion in patients with Crouzon syndrome presenting with sagittal synostosis.

The aim of this study was to report on a single center's experience with spring-assisted cranial vault expansion (SAE) in patients with Crouzon syndrome and sagittal suture synostosis. Strip craniotomy with SAE has resulted in successful outcomes with low complication and revision rates in patients with isolated scaphocephaly. However, recent experience suggests that outcomes in patients with Crouzon syndrome and sagittal synostosis (SS) who undergo SAE are less favorable compared with the outcomes of those who undergo frontobiparietal (FBP) expansion. The authors reviewed both operations performed at a single center and noticed an upward expansion of the skull, which may be related to ventriculomegaly, with concurrent intracranial hypertension and poor aesthetic outcome. All patients diagnosed with Crouzon syndrome and SS who were treated with SAE required a revision FBP operation. Based on this outcome, the authors consider Crouzon syndrome a contraindication for correcting SS with springs.

Saethre-Chotzen syndrome: long-term outcome of a syndrome-specific management protocol.

AIM: To assess the long-term outcomes of our management protocol for Saethre-Chotzen syndrome, which includes one-stage fronto-orbital advancement. METHOD: All patients born with Saethre-Chotzen syndrome between January 1992 and March 2017 were included. Evaluated parameters included occipital frontal head circumference (OFC), fundoscopy, neuroimaging (ventricular size, tonsillar position, and the presence of collaterals/an abnormal transverse sinus), polysomnography, and ophthalmological outcomes. The relationship between papilledema and its associated risk factors was evaluated with Fisher's exact test. RESULTS: Thirty-two patients (21 females, 11 males) were included. Median (SD) age at first surgery was 9.6 months (3.1mo) for patients who were primarily referred to our center (range: 3.6-13.0mo), the median (SD) age at last follow-up was 13 years (5y 7mo; range: 3-25y). Seven patients had papilledema preoperatively, which recurred in two. Two patients had papilledema solely after first surgery. Second cranial vault expansion was indicated in 20%. Thirteen patients had an OFC deflection, indicating restricted skull growth, one patient had ventriculomegaly, and none developed hydrocephalus. Eleven patients had emissary veins, while the transverse sinus was aberrant unilaterally in 13 (hypoplastic n=10 and absent n=3). Four patients had mild tonsillar descent, one of which was a Chiari type I malformation. Four patients had obstructive sleep apnoea (two mild, one moderate, and one severe). An aberrant transverse sinus was associated with papilledema (p=0.01). INTERPRETATION: Single one-stage fronto-orbital advancement was sufficient to prevent intracranial hypertension for 80% of our patients with Saethre-Chotzen syndrome. Follow-up should focus on OFC deflection and venous anomalies.

Secondary vault reconstruction after open or minimal invasive correction for unisutural, multisutural or syndromic craniosynostosis: A cohort study on the impact of diagnosis and type of initial surgical technique.

BACKGROUND: The aim of this study is to identify if certain types of craniosynostosis and/or surgical procedures are more likely to require a secondary intracranial procedure because of insufficient correction of skull shape or raised ICP after initial surgery. METHODS: All consecutive cases with craniosynostosis that were operated at our center between January 2010 and January 2019 were included and the number of secondary operations of the vault were determined, as well as diagnosis, the indication and type and timing of initial surgery. Monobloc and facial bipartition procedures were excluded. RESULTS: Over a nine year period, 790 vault corrections were performed in 780 patients of which 38 procedures were reoperations in 35 patient because of raised intracranial pressure or an insufficient esthetic result of the skull shape. Particularly patients with a multisutural or syndromic craniosynostosis are represented in this group, as well as three surgical procedures: 1. biparietal outfracturing for sagittal synostosis; 2. endoscopic stripcraniectomy with helmet therapy for unicoronal, multisutural or syndromic craniosynostosis; 3. conventional occipital expansion for syndromic craniosynostosis. CONCLUSIONS: The risk of a second intracranial correction for insufficient outcome of skull shape or for raised ICP is related to type of synostosis and type of initial surgical technique. Particularly multisutural and syndromic craniosynostosis are more likely to require repeat surgery for these indications. Concerning initial technique, biparietal outfracturing does not correct sagittal synostosis sufficiently, stripcraniectomy with helmet therapy appears to undercorrect unicoronal, multisutural and syndromic synostosis, and conventional occipital expansion for multisutural and syndromic synostosis has poorer outcome than occipital expansion with distraction.

Posterior Distraction Using Springs in Syndromic and Multisuture Craniosynostosis: Improving the Technique.

INTRODUCTION: Posterior distraction is the preferred surgical treatment for particularly Apert and Crouzon syndrome in most craniofacial centers, using either external distractors or springs. The authors prefer the use of springs and have adapted their technique to further improve outcomes. METHODS: All patients who were treated with the adapted technique for occipital expansion using springs were included. The most significant adaption that the authors introduced in 2017 is using a bony hinge at the top of the vault instead of at the caudal edge of the occiput. RESULTS: A total of 8 posterior expansions with springs were performed. No complications occurred and the springs were also successfully applied in cases with extremely thin bone. If indicated, a simultaneous foramen magnum decompression was performed and this was easier to combine with a hinge at the top of the vault. CONCLUSIONS: Posterior distraction with springs is a safe and effective procedure and allows a simultaneous foramen magnum decompression. Planning the hinge at the vault allows intracranial volume gain at the site of the posterior skull base.

Cerebral blood flow in children with syndromic craniosynostosis: cohort arterial spin labeling studies.

OBJECTIVE: In comparison with the general population, children with syndromic craniosynostosis (sCS) have abnormal cerebral venous anatomy and are more likely to develop intracranial hypertension. To date, little is known about the postnatal development change in cerebral blood flow (CBF) in sCS. The aim of this study was to determine CBF in patients with sCS, and compare findings with control subjects. METHODS: A prospective cohort study of patients with sCS using MRI and arterial spin labeling (ASL) determined regional CBF patterns in comparison with a convenience sample of control subjects with identical MRI/ASL assessments in whom the imaging showed no cerebral/neurological pathology. Patients with SCS and control subjects were stratified into four age categories and compared using CBF measurements from four brain lobes, the cerebellum, supratentorial cortex, and white matter. In a subgroup of patients with sCS the authors also compared longitudinal pre- to postoperative CBF changes. RESULTS: Seventy-six patients with sCS (35 female [46.1%] and 41 male [53.9%]), with a mean age of 4.5 years (range 0.2-19.2 years), were compared with 86 control subjects (38 female [44.2%] and 48 male [55.8%]), with a mean age of 6.4 years (range 0.1-17.8 years). Untreated sCS patients < 1 year old had lower CBF than control subjects. In older age categories, CBF normalized to values observed in controls. Graphical analyses of CBF by age showed that the normally expected peak in CBF during childhood, noted at 4 years of age in control subjects, occurred at 5-6 years of age in patients with sCS. Patients with longitudinal pre- to postoperative CBF measurements showed significant increases in CBF after surgery. CONCLUSIONS: Untreated patients with sCS < 1 year old have lower CBF than control subjects. Following vault expansion, and with age, CBF in these patients normalizes to that of control subjects, but the usual physiological peak in CBF in childhood occurs later than expected.

Improvement in Sleep Architecture is associated with the Indication of Surgery in Syndromic Craniosynostosis.

Children with syndromic craniosynostosis (sCS) often suffer from obstructive sleep apnea (OSA) and intracranial hypertension (ICH). Both OSA and ICH might disrupt sleep architecture. However, it is unclear how surgically treating OSA or ICH affects sleep architecture. The aim of this study was twofold: to explore the usefulness of sleep architecture analysis in detecting disturbed sleep and to determine whether surgical treatment can improve it. METHODS: Eighty-three children with sCS and 35 control subjects, who had undergone a polysomnography (PSG), were included. Linear-mixed models showed the effects of OSA and ICH on sleep architecture parameters. In a subset of 19 patients, linear regression models illustrated the effects of OSA-indicated and ICH-indicated surgery on pre-to-postoperative changes. RESULTS: An increase in obstructive-apnea/hypopnea index (oAHI) was significantly associated with an increase in N2-sleep, arousal index, and respiratory-arousal index and a decrease in REM-sleep, N3-sleep, sleep efficiency, and sleep quality. ICH and having sCS were not related to any change in sleep architecture. OSA-indicated surgery significantly increased the total sleep time and sleep efficiency and decreased the arousal index and respiratory-arousal index. ICH-indicated surgery significantly decreased REM-sleep, N1-sleep, sleep efficiency, and sleep quality. CONCLUSIONS: For routine detection of disturbed sleep in individual subjects, PSG-assessed sleep architecture is currently not useful. OSA does disrupt sleep architecture, but ICH does not. OSA-indicated surgery improves sleep architecture, which stresses the importance of treating OSA to assure adequate sleep. ICH-indicated surgery affects sleep architecture, although it is not clear whether this is a positive or negative effect.

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol.

OBJECTIVE: The authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure. METHODS: This was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes. RESULTS: The study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3-24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age. CONCLUSIONS: Patients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

Papilledema in unicoronal synostosis: a rare finding.

OBJECTIVE: Unicoronal synostosis results in frontal plagiocephaly and is preferably treated before the patient is 1 year of age to prevent intracranial hypertension (ICH). However, data on the prevalence of ICH in these patients is currently lacking. This study aimed to establish the prevalence of preoperative and postoperative signs of ICH in a large cohort of patients with unicoronal synostosis and to test whether there is a correlation between papilledema and occipitofrontal head circumference (OFC) curve stagnation in unicoronal synostosis. METHODS: The authors included all patients with unicoronal synostosis treated before 2 years of age at a single center between 2003 and 2013. The presence of ICH was evaluated by routine fundoscopy. The OFC growth curve was analyzed for deflection and in relationship to signs of ICH. RESULTS: In total, 104 patients were included in this study, 84 (81%) of whom were considered to have nonsyndromic unicoronal synostosis. Preoperatively, none of the patients had papilledema as determined by fundoscopy (mean age at surgery 11 months). Postoperatively, 5% of patients with syndromic synostosis and 3% of those with nonsyndromic synostosis had papilledema, and this was confirmed by optical coherence tomography. Raised intracranial pressure was confirmed in 1 patient with syndromic unicoronal synostosis. Six of 78 patients had OFC stagnation, which was not significantly correlated to papilledema (p = 0.22). One child with syndromic unicoronal synostosis required repeated surgery for ICH (0.96%). CONCLUSIONS: Papilledema was not found in patients with unicoronal synostosis when they underwent surgery before the age of 1 year and was also very rare during follow-up. There was no relationship between papilledema and OFC stagnation.

Use of Routine Prospective Functional and Aesthetic Patient Satisfaction Measurements in Secondary Cleft Lip Rhinoplasty.

IMPORTANCE: Patients, governments, health care providers, and insurance companies show an increased interest in health outcomes, especially in centralized medical care, such as cleft lip nose treatment. Transparent outcome reporting requires a thorough methodological design, dedicated prospective data collection process, and, preferably, no interference with the efficacy of daily practice. OBJECTIVE: To describe the implementation of an automated and prospective secondary cleft lip rhinoplasty outcome routine. DESIGN, SETTING, AND PARTICIPANTS: A prospective analytic cohort pilot study was conducted among 123 consecutive patients referred for secondary cleft lip rhinoplasty from July 1, 2014, to March 31, 2018, at an academic teaching hospital. EXPOSURES: Secondary cleft lip rhinoplasty or revision. MAIN OUTCOMES AND MEASURES: Preoperative and 3- and 12-month postoperative scores on the Nasal Obstruction Symptom Evaluation scale (range 0-100, lower scores indicate better outcome), Utrecht Questionnaire (range 0-100, lower scores indicate better outcome), and visual analog scales (range 0-10: 0, no obstruction; 10, completely blocked nose) were obtained. Data were exported for automated statistical outcome analysis that was supported by graphic output on a customized web-based dashboard. RESULTS: Of the 123 patients (68 male and 55 female; mean age, 23 years [range, 17-68 years]) included in the outcome routine, 103 patients (57 male and 46 female; mean age, 22 years [range, 17-50 years]) were eligible for surgery. The web-based dashboard provided demographic characteristics, reasons that surgery was not performed or indicated, and real-time, short- and long-term change in functional and aesthetic outcome after secondary cleft lip rhinoplasty. Among 66 patients with sufficient follow-up, mean (SD) Nasal Obstruction Symptom Evaluation sum scores after rhinoplasty improved from 30.8 (27.6), which is comparable to a moderate problem, to 19.2 (22.2), which is comparable to a very mild problem (P < .001), and mean Utrecht Questionnaire sum scores decreased from 13.1 (5.6) to 7.1 (3.3) (P < .001). CONCLUSIONS AND RELEVANCE: Routine prospective outcome monitoring provides an evidence-based response to the increasing demand for transparency in health care. The web-based dashboard used during patient counseling, selection, and management of expectations has the potential to compare results of secondary cleft lip rhinoplasty between surgeons and institutions provided that the populations share similar characteristics. The administrative interference with a busy daily practice was limited. LEVEL OF EVIDENCE: 4.