Sagittal Craniosynostosis Research Articles

Machine learning applications in craniosynostosis diagnosis and treatment prediction: a systematic review.

Craniosynostosis refers to the premature fusion of one or more of the fibrous cranial sutures connecting the bones of the skull. Machine learning (ML) is an emerging technology and its application to craniosynostosis detection and management is underexplored. This systematic review aims to evaluate the application of ML techniques in the diagnosis, severity assessment, and predictive modeling of craniosynostosis. A comprehensive search was conducted on the PubMed and Google Scholar databases using predefined keywords related to craniosynostosis and ML. Inclusion criteria encompassed peer-reviewed studies in English that investigated ML algorithms in craniosynostosis diagnosis, severity assessment, or treatment outcome prediction. Three independent reviewers screened the search results, performed full-text assessments, and extracted data from selected studies using a standardized form. Thirteen studies met the inclusion criteria and were included in the review. Of the thirteen papers examined on the application of ML to the identification and treatment of craniosynostosis, two papers were dedicated to sagittal craniosynostosis, five papers utilized several different types of craniosynostosis in the training and testing of their ML models, and six papers were dedicated to metopic craniosynostosis. ML models demonstrated high accuracy in identifying different types of craniosynostosis and objectively quantifying severity using innovative metrics such as metopic severity score and cranial morphology deviation. The findings highlight the significant strides made in utilizing ML techniques for craniosynostosis diagnosis, severity assessment, and predictive modeling. Predictive modeling of treatment outcomes following surgical interventions showed promising results, aiding in personalized treatment strategies. Despite methodological diversities among studies, the collective evidence underscores ML's transformative potential in revolutionizing craniosynostosis management.

Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428

Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) presenting as the most common CS phenotype. Previous genome-wide association and targeted sequencing analyses of sNCS have identified multiple associated loci, with the strongest association on chromosome 20. Herein, we report the first whole-genome sequencing study of sNCS using 63 proband-parent trios. Sequencing data for these trios were analyzed using the transmission disequilibrium test (TDT) and rare variant TDT (rvTDT) to identify high-risk rare gene variants. Sequencing data were also examined for copy number variants (CNVs) and de novo variants. TDT analysis identified a highly significant locus at 20p12.3, localized to the intergenic region between BMP2 and the noncoding RNA gene LINC01428. Three variants (rs6054763, rs6054764, rs932517) were identified as potential causal variants due to their probability of being transcription factor binding sites, deleterious combined annotation dependent depletion scores, and high minor allele enrichment in probands. Morphometric analysis of cranial vault shape in an unaffected cohort validated the effect of these three single nucleotide variants (SNVs) on dolichocephaly. No genome-wide significant rare variants, de novo loci, or CNVs were identified. Future efforts to identify risk variants for sNCS should include sequencing of larger and more diverse population samples and increased omics analyses, such as RNA-seq and ATAC-seq.

Understanding the influence of surgical parameters on craniofacial surgery outcomes: a computational study.

Sagittal craniosynostosis (SC) is a congenital condition whereby the newborn skull develops abnormally owing to the premature ossification of the sagittal suture. Spring-assisted cranioplasty (SAC) is a minimally invasive surgical technique to treat SC, where metallic distractors are used to reshape the newborn's head. Although safe and effective, SAC outcomes remain uncertain owing to the limited understanding of skull-distractor interaction and the limited information provided by the analysis of single surgical cases. In this work, an SC population-averaged skull model was created and used to simulate spring insertion by means of the finite-element analysis using a previously developed modelling framework. Surgical parameters were varied to assess the effect of osteotomy and spring positioning, as well as distractor combinations, on the final skull dimensions. Simulation trends were compared with retrospective measurements from clinical imaging (X-ray and three-dimensional photogrammetry scans). It was found that the on-table post-implantation head shape change is more sensitive to spring stiffness than to the other surgical parameters. However, the overall end-of-treatment head shape is more sensitive to spring positioning and osteotomy size parameters. The results of this work suggest that SAC surgical planning should be performed in view of long-term results, rather than immediate on-table reshaping outcomes.

Prospective Evaluation of Health-Related Quality-of-Life in Children with Craniosynostosis.

To investigate health-related quality of life (HRQL) in children aged 2 to 7 years, who have undergone surgery for craniosynostosis. Cross-sectional survey. A tertiary pediatric academic medical center. Children with craniosynostosis who underwent surgical correction, and who were 2-7 years old at the time of the study. Children from families that did not speak English were excluded. Caregivers were asked to fill out the Pediatric Quality of Life Inventory (PedsQL) Core Parent Report and the PedsQL Cognitive Functioning Scale. PedsQL: Psychosocial Health Summary Score, Physical Health Summary Score, Total Core Score, Cognitive Functioning Scale Score. Scores range from 0 to 100, with higher scores reflecting greater QoLSubject factors: comorbidities, syndromic status, type of craniosynostosis, type of surgery. The study included 53 subjects, of whom 13.2% had a syndrome. Core and cognitive scores did not depend on presence of a syndrome or suture involved. Subjects who underwent posterior cranial distraction achieved higher Total Core Scores than subjects who underwent open vault remodeling. Among subjects with sagittal craniosynostosis, there was a tendency for higher scores among children who underwent minimally-invasive surgery compared to those who underwent open vault remodeling. This study demonstrates similar HRQL among children with and without a syndrome, higher HRQL among children undergoing posterior cranial distraction than those undergoing open vault remodeling, and trends towards higher HRQL in children with sagittal craniosynostosis who underwent minimally-invasive surgery compared to those who underwent open vault remodeling.

Evaluation of Head Height After Endoscopic Strip Craniectomy and Orthotic Therapy for Sagittal Craniosynostosis

Background: Achievement of normal head shape is one of the primary goals of all treatment modalities for craniosynostosis, in addition to maintenance of normal intracranial pressure and allowing normal brain development. Pre- and postoperative quantification of head shape in sagittal craniosynostosis has largely relied on cephalic index (width divided by anterior-posterior length of skull). However, many infants with sagittal craniosynostosis have a head that is short in addition to long and narrow. Height is not captured by the cephalic index. Methods: Patients who underwent endoscopic repair of sagittal craniosynostosis between 2016 and 2019 with available pre- and 1-year postoperative head computed tomography (CT) scans were identified. Age-matched controls with available CT scans were used for comparison. Twenty-one patients with sagittal craniosynostosis who underwent endoscopic repair, 10 preoperative, and 10 postoperative age-matched controls were identified. CT scans were measured with Analyze 12.0 software using soft tissue windows. Head height was defined as the vertical distance from the opisthocranion to the top of the head along a line crossing the tragus. Results: Patients with sagittal craniosynostosis had a shorter head height (mean 6.01 cm) than age-matched controls (mean 6.94 cm, P = .0003), and, after endoscopic repair and helmeting, the head height (mean 8.05 cm) was similar to age matched controls (mean 8.22 cm, P = .515). Conclusions: This head height measurement quantifies the third dimension of abnormal head shape in sagittal craniosynostosis. Additionally, it is adequately corrected in endoscopic repair with helmeting.

Isolated Sagittal Craniosynostosis: A Comprehensive Review.

Sagittal craniosynostosis, a rare but fascinating craniofacial anomaly, presents a unique challenge for both diagnosis and treatment. This condition involves premature fusion of the sagittal suture, which alters the normal growth pattern of the skull and can affect neurological development. Sagittal craniosynostosis is characterised by a pronounced head shape, often referred to as scaphocephaly. Asymmetry of the face and head, protrusion of the fontanel, and increased intracranial pressure are common clinical manifestations. Early recognition of these features is crucial for early intervention, and understanding the aetiology is, therefore, essential. Although the exact cause remains unclear, genetic factors are thought to play an important role. Mutations in genes such as FGFR2 and FGFR3, which disrupt the normal development of the skull, are suspected. Environmental factors and various insults during pregnancy can also contribute to the occurrence of the disease. An accurate diagnosis is crucial for treatment. Imaging studies such as ultrasound, computed tomography, magnetic resonance imaging, and three-dimensional reconstructions play a crucial role in visualising the prematurely fused sagittal suture. Clinicians also rely on a physical examination and medical history to confirm the diagnosis. Early detection allows for quick intervention and better treatment outcomes. The treatment of sagittal craniosynostosis requires a multidisciplinary approach that includes neurosurgery, craniofacial surgery, and paediatric care. Traditional treatment consists of an open reconstruction of the cranial vault, where the fused suture is surgically released to allow normal growth of the skull. However, advances in minimally invasive techniques, such as endoscopic strip craniectomy, are becoming increasingly popular due to their lower morbidity and shorter recovery times. This review aims to provide a comprehensive overview of sagittal craniosynostosis, highlighting the aetiology, clinical presentation, diagnostic methods, and current treatment options.

Tranexamic acid decreases transfusion requirements during the modified pi-plasty procedure for sagittal craniosynostosis

The aim of our study was to evaluate the effectiveness of intraoperative tranexamic acid (TXA) administration in decreasing transfusion needs in patients undergoing modified pi-plasty.A retrospective study was performed using a population of 59 patients who underwent modified pi-plasty, wherein patients who received TXA during surgery (study group, n = 26) were compared with patients who did not receive TXA (control group, n = 33). The primary study endpoints were intraoperative red blood cell substitution (%), postoperative red blood cell substitution (%), total red blood cell substitution (%), and hematocrit variation.Perioperative administration of TXA significantly decreased the total red blood cell substitution (62.90% vs 86.70%; p = 0.002) and resulted in a higher postoperative hematocrit (29.47% vs 27.53%; p = 0.060). In conclusion, perioperative administration of TXA significantly decreased blood transfusion requirements in patients with sagittal craniosynostosis undergoing modified pi-plasty.

QEEG findings in nonsyndromic sagittal craniosynostosis

Despite the undertaken treatment, children with nonsyndromic sagittal craniosynostosis (NSC) are burdened with problems with speech development, visuospatial and other cognitive deficits. The electroencephalographic assessment has not influenced the diagnostics and treatment strategy of craniosynostosis so far but the introduction of quantitative EEG (QEEG) protocols renewed an interest in the functional aspect of this disease. In this study we retrospectively assessed the QEEG records of 25 children with NSC aged 1–18 months (mean age 9.62 months) before and after surgery. In each case, the amplitude, interhemispheric (ICoh) and intrahemispheric (HCoh) coherence indices were calculated. Obtained data were compared to age-matched control group of 25 normocephalic children. Children with NSC presented significantly lower values of amplitudes and intrahemispheric coherence in occipital, posterior parietal and posterior temporal regions than normocephalic children. The values of amplitudes, ICoh and HCoh in pre- and postoperative QEEG records mostly remained unchanged, with a slight improvement in HCoh in centro-parietal area. These findings suggest that NSC children present their own QEEG profile. The operative treatment improves an intrahemispheric connectivity, but there still exists a significant difference in the occipitotemporal, frontotemporal and centro-frontal areas, which may be considered as a functional substrate of reported speech and neurocognitive problems. QEEG findings in nonsyndromic sagittal craniosynostosis.

3D printing for Growth Adaptive Medical Devices: an alternative approach for craniosynostosis

An adaptive medical device is a piece of equipment designed to adjust or respond to changes in a patient’s condition or environment. The use of 3D printing technology for the development of adaptive medical devices has opened up new possibilities for customization, efficiency, and accessibility in healthcare. Sagittal craniosynostosis is a birth defect that arises due to a premature fusion of the sagittal suture in infants. This disease causes a misshapen skull and a rise of intracranial pressure that can lead to cognitive impairments. At six months of age, the preferred technique for craniosynostosis is an open vault remodeling surgery, an extremely invasive procedure with severe blood loss for the patient and significant postoperative pain. In this context, growth adaptive cranial plates, that can be tuned depending on the patient to achieve the desired skull shape through the deformation of the structure, can be a valid alternative. Cellular and lattice structures offer tailorable mechanical properties in relation to the designed geometry. Specifically, the geometry of cellular materials can be modified in relation to the final mechanical requirements. In this study, the predictability of the deformation of a PLA structure composed by honeycomb unit cells was studied performing compression simulations. The geometry was then modified, simulations and compression tests were then repeated in order to find an equation that could describe the relation between the internal angle of the honeycomb and the relative Poisson ratio. This relation can be further exploited for the production of customized adaptive devices for the treatment of sagittal craniosynostosis.

Strabismus and refraction in non-syndromic craniosynostosis - Alongitudinal study up to 5 years of age.

To evaluate the refractive outcome and strabismus at 5 years of age, in children operated for various types of non-syndromic craniosynostosis, and further analyse the refractive and strabismic development over time. Eighty-nine children, who had undergone operations for non-syndromic craniosynostosis, were examined at 5 years of age. These children also underwent ophthalmological examination preoperatively and up to 1 year after the operation. An age-matched control group including 32 healthy children was also recruited. Strabismus and eye motility were registered. Refraction was measured in cycloplegia. There was a difference regarding the refractive outcome between the different types of craniosynostosis. Higher values of hypermetropia were found in the metopic craniosynostosis group on both eyes. In the unicoronal craniosynostosis group, high values of hypermetropia and a higher degree of astigmatism were found on the side contralateral to the craniosynostosis. Strabismus was found in 11/88 children of whom 10/11 had unicoronal craniosynostosis. A vertical deviation on the side ipsilateral to the fused suture was highly prevalent (6/10 cases). Ophthalmological dysfunctions were rare in children operated for sagittal craniosynostosis. Ocular manifestations such as strabismus, astigmatism and anisometropia were highly prevalent in children operated for unilateral coronal craniosynostosis. Children operated for metopic craniosynostosis had higher rates of hypermetropia. The screening and follow-up protocols need to be tailored with regard to the type of craniosynostosis.

Диагностика и оценка эффективности хирургических методик лечения несиндромальных изолированных краниосиностозов у детей старше 2 лет на примере скафоцефалии и лобной плагиоцефалии

If craniosynostosis (CS) is not diagnosed in a timely manner, the disease develops into craniostenosis. The optimal timing for surgical correction is the first 6 to 8 months of life. However, parents of children with CS over 2 years of age often seek help. The purpose of the research was to determine the optimal diagnostic tactics, to evaluate the effectiveness of existing surgical methods for treating isolated CS in children over 2 years of age using the example of the two most common forms, sagittal and hemicoronal CS. Materials and methods used: the results of treatment of 36 pediatric patients with isolated sagittal CS and 21 with hemicoronary CS aged 2 to 7 y/o were analyzed. The control group consisted of patients with CS of the younger age group (under 2 y/o). The diagnosis used computed tomography (CT) of the skull, ophthalmoscopic examination using the RetCam device, and direct invasive monitoring of intracranial pressure. Surgical treatment included one-stage reconstructive cranioplasty, Pi-shaped craniotomy and installation of compression-distraction devices. Treatment results were assessed by calculating craniometric parameters at both pre- and postoperative stages. Statistical assessment of the effectiveness of the results of various types of surgical correction was carried out as well. Results: hypertensive changes, according to CT data, were found in all patients. Intracranial hypertension was detected in 38% of cases in children with sagittal and 33% of cases in patients with hemicoronary CS. Craniometric indices after surgical treatment were statistically better in the younger age group. Conclusion: Children over 2 years of age suffering from CS may not experience clinical manifestations of intracranial hypertension. The method of direct monitoring of intracranial pressure and assessment of the condition of the fundus allow a reliable assessment of the stage of the disease. Surgical treatment of the disease should be performed during the first year of life, which gives the best both cosmetic and functional results. In the case of treatment at a later date, the most optimal results are achieved with the use of one-stage reconstructive cranioplasty.

Integrated Endoscopic Craniosynostosis Surgery and Cranial Orthosis Program.

Craniosynostosis results from premature fusion of the cranial sutures. There has been a continuous evolution of surgical correction techniques from an extensive open procedure to the minimally invasive technique. This novel surgical technique has never been previously done in the UAE and this article documents the experience of the first team to endoscopically correct craniosynostosis with planning, surgical techniques, and customized helmet therapy. A retrospective case series of 16 nonsyndromic craniosynostosis patients with unicoronal (6), sagittal (5), bicoronal (1), frontosphenoidal (2), and metopic craniosynostoses (2) was corrected endoscopically and followed up with customized cranial helmet. Preoperative and postoperative photography, along with anthropometric measurements were taken. The mean age of all patients at the time of surgery was 101 (90-117) days, mean duration of surgery was 70 minutes (38-129), mean blood loss was 120mL (100-150), and mean duration of hospital stay 4 days (4-5). No complications and mortality were reported. Mean number of helmets was 2 (1-3). Cranial index improved in all patients with sagittal and bicoronal craniosynostosis. Close cooperation with the orthotist ensured timely helmet therapy and accurate laser scanning documentation in head molding. This case series has demonstrated that endoscopically craniosynostosis correction is safe, effective, and reliable and is the first reported series from the Middle East. The authors believe that every patient with nonsyndromic single‑suture craniosynostosis should be offered endoscopic correction before the age of 6 months. The orthotist forms an important part of the Multi-disciplinary team, enabling successful outcomes.

Towards a radiation free numerical modelling framework to predict spring assisted correction of scaphocephaly

Sagittal Craniosynostosis (SC) is a congenital craniofacial malformation, involving premature sagittal suture ossification; spring-assisted cranioplasty (SAC) – insertion of metallic distractors for skull reshaping – is an established method for treating SC. Surgical outcomes are predictable using numerical modelling, however published methods rely on computed tomography (CT) scans availability, which are not routinely performed. We investigated a simplified method, based on radiation-free 3D stereophotogrammetry scans. Eight SAC patients (age 5.1 ± 0.4 months) with preoperative CT and 3D stereophotogrammetry scans were included. Information on osteotomies, spring model and post-operative spring opening were recorded. For each patient, two preoperative models (PREOP) were created: i) CT model and ii) S model, created by processing patient specific 3D surface scans using population averaged skin and skull thickness and suture locations. Each model was imported into ANSYS Mechanical (Analysis System Inc., Canonsburg, PA) to simulate spring expansion. Spring expansion and cranial index (CI - skull width over length) at times equivalent to immediate postop (POSTOP) and follow up (FU) were extracted and compared with in-vivo measurements. Overall expansion patterns were very similar for the 2 models at both POSTOP and FU. Both models had comparable outcomes when predicting spring expansion. Spring induced CI increase was similar, with a difference of 1.2%±0.8% for POSTOP and 1.6%±0.6% for FU. This work shows that a simplified model created from the head surface shape yields acceptable results in terms of spring expansion prediction. Further modelling refinements will allow the use of this predictive tool during preoperative planning.

Automated surgical planning in spring-assisted sagittal craniosynostosis correction using finite element analysis and machine learning.

Sagittal synostosis is a condition caused by the fused sagittal suture and results in a narrowed skull in infants. Spring-assisted cranioplasty is a correction technique used to expand skulls with sagittal craniosynostosis by placing compressed springs on the skull before six months of age. Proposed methods for surgical planning in spring-assisted sagittal craniosynostosis correction provide information only about the skull anatomy or require iterative finite element simulations. Therefore, the selection of surgical parameters such as spring dimensions and osteotomy sizes may remain unclear and spring-assisted cranioplasty may yield sub-optimal surgical results. The aim of this study is to develop the architectural structure of an automated tool to predict post-operative surgical outcomes in sagittal craniosynostosis correction with spring-assisted cranioplasty using machine learning and finite element analyses. Six different machine learning algorithms were tested using a finite element model which simulated a combination of various mechanical and geometric properties of the calvarium, osteotomy sizes, spring characteristics, and spring implantation positions. Also, a statistical shape model representing an average sagittal craniosynostosis calvarium in 5-month-old patients was used to assess the machine learning algorithms. XGBoost algorithm predicted post-operative cephalic index in spring-assisted sagittal craniosynostosis correction with high accuracy. Finite element simulations confirmed the prediction of the XGBoost algorithm. The presented architectural structure can be used to develop a tool to predict the post-operative cephalic index in spring-assisted cranioplasty in patients with sagittal craniosynostosis can be used to automate surgical planning and improve post-operative surgical outcomes in spring-assisted cranioplasty.

Evaluation of Helmeting Therapy Duration After Endoscopic Strip Craniectomy for Metopic and Sagittal Craniosynostosis.

Endoscopic strip craniectomy (ESC) is a minimally invasive option for early surgical treatment of metopic (MC) and sagittal craniosynostosis (SC). For ESC, however, the postoperative duration and compliance of helmet therapy are crucial to correct MC and SC asymmetry. The purpose of this study is to assess the period of postoperative band therapy and determine differences, if any, between MC and SC. A single-institution retrospective review was performed for patients with MC and SC who underwent ESC from November 2015 to 2019. Patients received preoperative, postoperative, and post-band 3-dimensional imaging. Factors recorded included patient sex, insurance type, number of helmets needed, age at surgery, time of first helmet, and at time of completion of helmet therapy, cephalic index, interfrontal angle, and cranial vault asymmetry index. Patients with SC and MC had ESC surgery at 3.3 and 3.4 months of age, respectively.Patients with SC were found to have completed banding therapy at a younger age (7.88 versus 10.0mo), with shorter duration (4.17 versus 6.00mo), and less number of bands (1.54 versus 2.21) than patients with MC. After regression analysis, suture type was found to be a significant predictor of total time in band therapy ( P =0.039) with MC requiring a longer duration of banding therapy when compared with SC. Suture type directly correlates with duration of helmeting therapy for patients, with patients with MC requiring longer periods of postop helmeting and increased number of bands as compared with SC.

Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape

The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood. Here, we conduct a joint multi-ancestry and admixed multivariate genome-wide association study on 3D cranial vault shape extracted from magnetic resonance images of 6772 children from the ABCD study cohort yielding 30 genome-wide significant loci. Follow-up analyses indicate that these loci overlap with genomic risk loci for sagittal craniosynostosis, show elevated activity cranial neural crest cells, are enriched for processes related to skeletal development, and are shared with the face and brain. We present supporting evidence of regional localization for several of the identified genes based on expression patterns in the cranial vault bones of E15.5 mice. Overall, our study provides a comprehensive overview of the genetics underlying normal-range cranial vault shape and its relevance for understanding modern human craniofacial diversity and the etiology of congenital malformations.

Tandem pediatric neurosurgery: treatment of synostosis and intractable epilepsy. Illustrative case.

Hemispherectomy is a surgical procedure reserved for hemispheric intractable epilepsy. Sagittal craniosynostosis is a congenital disorder treated with open or endoscope-assisted approaches for synostosis correction. These procedures are not commonly performed in the same setting. In this report, the authors present a 6-month-old female with sagittal craniosynostosis, hemimegalencephaly, and intractable epilepsy who underwent a left hemispherotomy with open sagittal synostosis correction followed by cranial molding orthosis therapy. The report highlights the technical nuances of the procedure, but also discusses the possible genetic disorder responsible for both conditions, megalencephaly-capillary malformation syndrome.

Is Postoperative Helmet Molding Therapy Necessary for Craniectomy for Sagittal Suture Synostosis?

Endoscopic strip craniectomy followed by postoperative remodeling helmet therapy for scaphocephaly is widely accepted, but the requirement of several helmets might burden patients or their families. This study examined whether craniectomy via a bicoronal approach without molding helmet therapy is worth considering. The authors retrospectively reviewed patients with nonsyndromic sagittal suture synostosis who underwent the modified Renier H technique between 2016 and 2021. We collected data on preoperative and postoperative cephalic index (CI), operative time, estimated blood loss, and blood transfusion rates. The authors also examined all related literature in English describing endoscopic craniectomy with postoperative helmet molding therapy for sagittal suture craniosynostosis. Among 17 patients, the average operative time was 92.2±15.6 minutes, the mean estimated blood loss was 35.8±22.4mL, and a blood transfusion was needed for 9 patients (52.9%). The mean preoperative and postoperative CIs were 69.1±2.6 and 78.4±2.2, respectively. A comparison of the literature review with the authors' results showed that their procedures required a slightly longer operative time and a higher frequency of blood transfusions. There are no significant differences in blood loss or preoperative and postoperative CIs reported in the literature. The open procedure required a higher operative time than endoscopic suturectomy. However, dealing with bleeding is more challenging with endoscopic suturectomy. The cost of the helmets and the duration patients have to wear them, which might be burdensome for the patients or their families when determining the optimal minimally invasive treatment, should also be considered.

Patient-reported outcome measures more than fifteen years after treatment of sagittal or metopic craniosynostosis: a prospective cohort study

PurposeTo evaluate the long-term anthropometric measurements, cosmetic satisfaction, and other patient-reported outcome measures (PROMs) of patients who underwent surgical treatment or observation only of sagittal or metopic single-suture craniosynostosis (SSC).MethodsA prospective study was designed for all patients diagnosed with non-syndromic sagittal and metopic craniosynostosis at the British Columbia Children’s Hospital, Vancouver, Canada, in the period July 1986 to July 2006. After a minimum of 15 years post-diagnosis, all eligible patients were invited to fill out the Craniofacial Surgery Outcomes Questionnaire (CSO-Q) and to attend a scheduled follow-up appointment for the collection of anthropometric measurements. A descriptive analysis of the cosmetic results was performed. Statistical analyses compared the differences in anthropometric measurements between treated and non-treated patients.ResultsOf the 253 eligible patients, 52 participants were willing to share patient data for use in the study. Of those 52 former patients, 36 (69.2%) filled out and returned the CSO-Q and 23 (44.2%) attended the follow-up appointment. The mean follow-up period between surgical treatment and the CSO-Q was 20.2 ± 2.5 years and between surgical treatment and the follow-up appointment was 20.9 ± 2.7 years. In patients with sagittal SSC, the mean cephalic index (CI) was significantly larger in treated than in non-treated patients (74.6 versus 69.1, p = 0.04), while the mean pupillary distance and forehead to back index were significantly smaller (pupillary distance 6.0 cm versus 6.7 cm [p = 0.04] and forehead to back index 19.6 cm versus 21.1 cm [p = 0.03]). Focusing more on the patient reported outcome measures, overall cosmetic satisfaction was found to be high (80.6%) and no differences were found between sagittal and metopic synostosis patients, nor between treated or non-treated craniosynostosis patients. Overall outcomes regarding self-esteem (RSES) and fear of negative evaluation (FNE) were comparable with population based outcomes.ConclusionThis is the first prospective study of sagittal and metopic craniosynostosis patients regarding long-term anthropometric outcome and patient reported outcome measures, including patients who were treated surgically and those who received observation only. Although study participation two decades after initial diagnosis was difficult to obtain, our data provide a platform from which one can develop an inclusive and uniform approach to assess patients’ subjective cosmetic satisfaction using the CSO-Questionnaire and might be useful in preoperative counseling and psychosocial care for patients and their families.

Craniometric and Aesthetic Outcomes in Craniosynostosis Surgery: A Systematic Review and Meta-Analysis.

To systematically review the published comparative aesthetic outcomes, and its determinants, for craniosynostoses surgically treated by minimally-invasive cranial procedures and open cranial vault remodeling (CVR). PRISMA-compliant systematic review. Not-applicable. Articles were included if they compared spring cranioplasty, strip minimally-invasive craniectomy or CVR for outcomes related to aesthetics or head shape. Forty-two studies were included, comprising 2402 patients. None. The craniometric and PROM used to determine surgical outcomes. Twenty-five studies (59%) evaluated sagittal craniosynostosis, with metopic (7;17%) and unicoronal (4;10%) the next most prevalent. Thirty-eight studies (90%) included CVR, 24 (57%) included strip craniectomy with helmeting, 9 (22%) included strip craniectomy without helmeting, 11 (26%) included spring cranioplasty, and 3 (7%) included vault distraction. A majority of studies only used 1 (43%) or 2 (14%) craniometric measures to compare techniques. In sagittal synostosis, 13 (59%) studies showed no difference in craniometric outcomes, 5 (23%) showed better results with CVR, 3 (14%) with strip craniectomy, and 1 (5%) with springs. In studies describing other synostoses, 10/14 (71%) were equivocal. Subjective outcome measures followed similar trends. Meta-analysis shows no significant difference in cranial index (CI) outcomes between CVR and less invasive procedures in patients with sagittal synostosis. There is no difference in CI outcomes between CVR and less invasive procedures. The majority of literature comparing craniometric and aesthetic outcomes between CVR and less invasive procedures shows equivocal results for sagittal synostosis. However, the heterogeneity of data for other craniosynostoses did not allow meta-analysis.