Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome?

LEVEL OF EVIDENCE: III.

Patient Factors Influencing Speech Outcomes in Velopharyngeal Function Following Initial Cleft Palate Repair: A Systematic Review and Meta-Analysis.

OBJECTIVE: Identification of patient factors influencing velopharyngeal function for speech following initial cleft palate repair. DESIGN: A literature search of relevant databases from inception until 2018 was performed using medical subject headings and keywords related to cleft palate, palatoplasty and speech assessment. Following three stage screening data extraction was performed. SETTING: Systematic review and meta-analysis of relevant literature. PATIENTS/PARTICIPANTS: Three hundred and eighty-three studies met the inclusion criteria, comprising data on 47 658 participants. INTERVENTIONS: Individuals undergoing initial palatoplasty. MAIN OUTCOME MEASURES: Studies including participants undergoing initial cleft palate repair where the frequency of secondary speech surgery and/or velopharyngeal function for speech was recorded. RESULTS: Patient factors reported included cleft phenotype (95% studies), biological sex (64%), syndrome diagnosis (44%), hearing loss (28%), developmental delay (16%), Robin Sequence (16%) and 22q11.2 microdeletion syndrome (11%). Meta-analysis provided strong evidence that rates of secondary surgery and velopharyngeal dysfunction varied according to cleft phenotype (Veau I best outcomes, Veau IV worst outcomes), Robin Sequence and syndrome diagnosis. There was no evidence that biological sex was associated with worse outcomes. Many studies were poor quality with minimal follow-up. CONCLUSIONS: Meta-analysis demonstrated the association of certain patient factors with speech outcome, however the quality of the evidence was low. Uniform, prospective, multi-centre documentation of preoperative characteristics and speech outcomes is required to characterise risk factors for post-palatoplasty velopharyngeal insufficiency for speech. SYSTEMATIC REVIEW REGISTRATION: Registered with PROSPERO CRD42017051624.

Results Following Adoption of a Modified Melbourne Technique of Total Scaphocephaly Correction.

The Melbourne technique was described in 2008 as a novel method for complete correction of scaphocephaly. Since 2015, it has become our operation of choice for children with sagittal synostosis who are too old at presentation for minimally invasive techniques. Our modifications were 2-position (initially supine then prone) technique and undertaking a formal fronto-orbital remodeling to correct forehead contour. Retrospective chart review was used to record demographics, blood transfusion frequency and volumes, operating time, length of stay, clinical outcome, and complications. Eleven underwent modified Melbourne procedure between July 2015 and March 2017; 9 of 11 were male. All had a diagnosis of nonsyndromic sagittal synostosis. Mean age at surgery was 29 months. Mean surgical time was 6 hours. All patients required blood transfusion with a mean volume transfused of 29 mL/kg (range 13-83 mL/kg). For those 5 patients where preoperative and postoperative measurements were available, there was an increase in mean cephalic index (CI) from 0.64 to 0.75. All postoperative patients had a CI of over 0.70. Three-dimensional shape analysis indicated head shape change addressing all phenotypic aspects of scaphocephaly. In the 5 patients in which analysis could be undertaken, the mean intracranial volume increased from 1481 cm preoperatively to 1671 cm postoperatively, a mean increase in intracranial volume of 14%. The postoperative intracranial volume was higher than preoperative in all 5 patients. There were 4 minor and no major complications. Modified Melbourne procedure is safe and effective for the treatment of severe scaphocephaly in sagittal synostosis.

Intracranial Volume Measurement: A Systematic Review and Comparison of Different Techniques.

The ability to calculate intracranial volume (ICV) from 3-dimensional imaging is a useful tool in a craniofacial team's armamentarium. Intracranial volume uses range from decision making to assessment. Various methods to calculate ICV exist including fully manual, semiautomatic, and fully automatic techniques and they are used with varying frequency in craniofacial centres globally.This study aimed to systematically analyze and compare ICV calculations across the 3 methods and provide information to allow the reader to utilize these processes in practice.Twenty-six computed tomography scans from Apert patients were used to compare ICV measurements calculated using the following techniques: fully manual segmentation with OsiriX (taken as the gold standard); semiautomatic segmentation using Simpleware ScanIP; and fully automatic segmentation using FSL neuroimaging software. In addition, to assess the effect that a reducing CT scan slice number had on ICV measurement, 13 scans were remeasured using half, quarter, and an eighth of the slices of the full scan.The manual and semiautomatic techniques had intraclass correlation coefficients of 0.997, and 0.993 respectively. Intracranial volume measurements using the semi- and fully automatic techniques showed high linear correlation with manual techniques (R = 0.993 and R = 0.995). The coefficients of determination for full scan versus half, quarter, and eighth scan were R = 0.98, 0.96, and 0.94 respectively.Similar ICV results can be obtained using manual, semiautomatic, or automatic techniques with decreasing amount of time required to perform each method. Command line code for the fully automatic method is provided.

Hypertelorism correction with facial bipartition and box osteotomy: does soft tissue translation correlate with bony movement?

OBJECTIVE: Hypertelorism may be corrected by either transcranial box osteotomy or facial bipartition. Despite radical bony resection, the associated soft tissue translation often seems disproportionate. The purpose of this study was to review bony and soft tissue movements in a series of 15 consecutive hypertelorism correction cases. METHODS: Two surgical residents in training independently analyzed preoperative and postoperative axial and three-dimensional reconstructed computed tomography data from 15 consecutive patients undergoing facial bipartition (n = 7) or transcranial box osteotomy correction (n = 8) between 2001 and 2010. Anterior interorbital distance, lateral interorbital distance, midpoint globe distance, and globe protrusion were measured along with intercanthal distance and palpebral fissure width. RESULTS: The mean preoperative anterior interorbital distance was 35.5 mm; postoperatively, there was a mean reduction of 9.5 mm, to 26 mm. The mean preoperative intercanthal distance was 48.1 mm; there was a mean reduction of 10.3 mm, to 37.8 mm. The mean preoperative midpoint globe distance was 69.5 mm; there was a mean reduction of 9.6 mm, to 59.9 mm. The mean preoperative globe protrusion was 17.6 mm; there was a mean reduction of 5 mm, to 12.6 mm (28.5%). The mean interclass correlation (a measurement of interrater congruency with 1 being complete agreement) was 0.85 CONCLUSIONS: Transcranial box osteotomy and facial bipartition correct hypertelorism. The medial canthal tendons, lateral canthal tendons, and globes move in proportion to the bony attachments. We observed a reduction in globe protrusion an average of 29%, therefore risking enophthalmos.

The Preservation Technique for Incomplete Unilateral Cleft Lip Reconstruction.

The incomplete unilateral cleft lip shares many of the same phenotypic characteristics as a complete unilateral cleft lip, but key differences include an intact nasal sill, a relative excess of skin in the lateral lip element, and favorable skeletal support. Surgical techniques for incomplete unilateral cleft lips should be tailored to the specific anatomical characteristics, be simple and reliable to perform, and minimize the risk of secondary deformity. Here we describe the "preservation technique" for incomplete unilateral cleft lip reconstruction. The modified design from the anatomical subunit approximation technique uses a nasal sill flap and obviates the need for nasal sill and lateral lip excision. Tissues of the lip are opened out and reorientated to maximize the anatomical advantage.

Validation of an in-silico modelling platform for outcome prediction in spring assisted posterior vault expansion.

BACKGROUND: Spring-Assisted Posterior Vault Expansion has been adopted at Great Ormond Street Hospital for Children, London, UK to treat raised intracranial pressure in patients affected by syndromic craniosynostosis, a congenital calvarial anomaly which causes premature fusion of skull sutures. This procedure aims at normalising head shape and augmenting intracranial volume by means of metallic springs which expand the back portion of the skull. The aim of this study is to create and validate a 3D numerical model able to predict the outcome of spring cranioplasty in patients affected by syndromic craniosynostosis, suitable for clinical adoption for preoperative surgical planning. METHODS: Retrospective spring expansion measurements retrieved from x-ray images of 50 patients were used to tune the skull viscoelastic properties for syndromic cases. Pre-operative computed tomography (CT) data relative to 14 patients were processed to extract patient-specific skull shape, replicate surgical cuts and simulate spring insertion. For each patient, the predicted finite element post-operative skull shape model was compared with the respective post-operative 3D CT data. FINDINGS: The comparison of the sagittal and transverse cross-sections of the simulated end-of-expansion calvaria and the post-operative skull shapes extracted from CT images showed a good shape matching for the whole population. The finite element model compared well in terms of post-operative intracranial volume prediction (R2 = 0.92, p < 0.0001). INTERPRETATION: These preliminary results show that Finite Element Modelling has great potential for outcome prediction of spring assisted posterior vault expansion. Further optimisation will make it suitable for clinical deployment.

Statistical shape modelling for the analysis of head shape variations.

The aim of this study is, firstly, to create a population-based 3D head shape model for the 0 to 2-year-old subjects to describe head shape variability within a normal population and, secondly, to test a combined normal and sagittal craniosynostosis (SAG) population model, able to provide surgical outcome assessment. 3D head shapes of patients affected by non-cranial related pathologies and of SAG patients (pre- and post-op) were extracted either from head CTs or 3D stereophotography scans, and processed. Statistical shape modelling (SSM) was used to describe shape variability using two models - a normal population model (MODEL1) and a combined normal and SAG population model (MODEL2). Head shape variability was described via principal components analysis (PCA) which calculates shape modes describing specific shape features. MODEL1 (n = 65) mode 1 showed statistical correlation (p < 0.001) with width (125.8 ± 13.6 mm), length (151.3 ± 17.4 mm) and height (112.5 ± 11.1 mm) whilst mode 2 showed correlation with cranial index (83.5 mm ± 6.3 mm, p < 0.001). The remaining 9 modes showed more subtle head shape variability. MODEL2 (n = 159) revealed that post-operative head shape still did not achieve full shape normalization with either spring cranioplasty or total calvarial remodelling. This study proves that SSM has the potential to describe detailed anatomical variations in a paediatric population.

Schizophrenia, AIDS and the decision to prescribe HAART: results of a national survey of HIV clinicians.

Individuals with schizophrenia are at risk of developing HIV and are known to experience barriers to optimal medical care. Our goal was to determine, among a cohort of HIV clinicians, whether or not the diagnosis of schizophrenia affected the clinical decision to offer highly active antiretroviral therapy (HAART) to AIDS patients. This is a cross-sectional study of a random, national sample of HIV experts drawn from the membership of the American Academy of HIV Medicine. Participants were mailed a self-administered questionnaire with a case vignette of a new onset AIDS patient and were specifically asked whether or not they would recommend HAART treatment. Vignettes were randomly assigned to include a diagnosis of schizophrenia or not. We located 649 clinicians (93%); 347 responded (53.4%). Responders and non-responders did not differ in demographics or work characteristics. Recommendation of antiretroviral treatment did not differ between those who received a case vignette with schizophrenia versus those who did not(95.8% vs. 96.6%, p=0.69). Compared to those who received a case vignette without schizophrenia, those who received vignettes with schizophrenia were more likely to avoid prescribing efavirenz, a medication with known neuropsychiatric side effects(17.7% vs. 45.5%, p < 0.01), more likely to agree to be helped by a specialist(34.5% vs. 12.9%, p < 0.01), and more likely to recommend directly observed therapy (20% vs.10%, p = 0.01). HIV clinicians recognize the importance of recommending HAART treatment to individuals with schizophrenia and AIDS and avoid using antiretroviral medication with known neuropsychiatric side effects.