A clinical evaluation of variation in paediatric intracranial pressure waveforms.

Introduction: Intracranial pressure (ICP) monitoring is commonly used in investigating the aetiology of chronic paediatric neurological conditions. A series of high-amplitude spikes has been observed in overnight ICP recordings of some children, many of whom have hydrocephalus or craniosynostosis. Research question: This clinical evaluation aimed to define the spike pattern, describe the patient group in which it is most likely to occur, and conduct high-resolution waveform analysis. Material and methods: ICP waveforms from 40 patients aged 0-5 years (inclusive), recorded between 2017 and 2021 at the Royal Hospital for Children Glasgow, were retrospectively analysed. The pattern was defined through visual inspection of regions of interest by two reviewers. Patients were stratified using demographic and clinical data. R software was used to perform regression and high-resolution waveform analyses. Results: The spike pattern was defined as the presence of 2 consecutive spikes with an amplitude of at least 8 mmHg, with a gap of at least 30 min between spikes. In the adjusted Poisson regression, age was significantly associated with the number of spikes (IRR 0.8, 95% CI 0.70 to 0.92, p-value 0.001). Discussion and conclusion: Younger age was significantly associated with an increased number of spikes in this cohort. Investigation of clinical consequences of the spikes is warranted.

Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.

PURPOSE: Craniosynostosis (CRS) is a rare congenital cranial malformation in which 1 or more cranial or facial sutures are fused in utero or rapidly fused in early infancy. The cranial sutures separate the skull bone plates and enable rapid growth of the skull in the first 2 years of life, in which growth is largely dictated by growth of the brain. CRS is a rare disease that occurs in 1 in 2100 to 1 in 2500 births and may be either nonsyndromic (also referred to as isolated) or syndromic. In syndromic CRS, other birth defects are present next to the CRS. The distinction between nonsyndromic and syndromic manifestations is made on the basis of dysmorphologic evaluation and genetic evaluation. Owing to advances in genetic diagnostics, nonsyndromic patients are increasingly recognized as syndromic patients. CRS treatment is almost entirely surgical and is sometimes paired with postoperative helmet therapy for maintenance. Corrective procedures are complex, long, and associated with the risk of numerous complications, including heavy blood loss and its sequelae. Although surgery may restore a normal appearance, even in nonsyndromic patients, patients may experience persistent deficits in intellectual ability and cognitive function. The European Commission (EC) has prioritized rare diseases in recent horizon European research programs; indeed, collections or even individual samples may be extremely valuable for research. METHODS AND RESULTS: Here, we present a study protocol in which the combined expertise of clinicians and researchers will be exploited to generate a biobank dedicated to CRS. The generation of the CRS biobank presented in this study will include the collection of different types of biological materials as well as advanced radiological images available to the scientific community. CONCLUSION: The activation of a CRS biobank will provide an opportunity to improve translational research on CRS and to share its benefits with the scientific community and patients and their families.

The Effect of Barrel-Stave Osteotomy Length in Sagittal Strip Craniectomy.

OBJECTIVE: In managing sagittal craniosynostosis, strip craniectomy of the affected suture is commonly paired with barrel-stave osteotomies to allow for additional cranial remodeling. However, the effect of these osteotomies is not well-established. This study aimed to evaluate the effect of the length of barrel-stave osteotomies on outcomes in patients with sagittal craniosynostosis. DESIGN: A retrospective review of operative records and pre-operative and one-year post-operative three-dimensional images. SETTING: Tertiary care pediatric institution. PATIENTS: Forty-five patients with sagittal craniosynostosis. INTERVENTIONS: Sagittal strip craniectomy and either long, medium, or short barrel-stave osteotomy lengths followed by helmet therapy. MAIN OUTCOME MEASURES: Operative and three-dimensional craniometric outcomes. RESULTS: Operative time, estimated blood loss, and hospital length of stay were significantly decreased in the short group (P = .003; 0.002; 0.027). The cranial index was normalized in all groups, but the long group was significantly lower (P = .007; 0.025). Head circumference was similar between groups. All indexes were within the normal percentiles in all groups. The medium group had a significantly decreased scaphocephalic index (P = .031; .035). The short group had significantly greater occipital bulleting than the medium group (P = .001). The long group had significantly greater narrowing than the short group (P = .036). CONCLUSIONS: Strip craniectomy with the addition of long, medium, or short barrel staves all resulted in clinically successful outcomes. Our findings suggest that increased barrel-stave osteotomy length may not be necessary for a successful outcome while avoiding more extensive dissection, potential risk, increased operative time, and hospital length of stay.

Long-term outcomes after surgical correction of anterior plagiocephaly secondary to isolated frontosphenoidal synostosis: a systematic review and two illustrative cases.

PURPOSE: Anterior plagiocephaly ( AP), secondary to isolated frontosphenoidal synostosis (IFS), represents one of the rarest forms of craniosynostosis documented in medical literature. Therefore, there is a lack of comprehensive understanding regarding the long-term (> 2 years) postoperative outcomes of this minor suture synostosis. METHODS: This study presents the long-term outcomes of two patients previously treated for IFS, detailing their clinical, imaging, and postoperative characteristics. Additionally, a systematic review was conducted following PRISMA criteria to summarize existing literature on the topic. The review specifically focuses on long-term aesthetic outcomes, reoperation rates, and complications following surgical intervention for IFS. RESULTS: Four articles encompassing 12 patients were included in the systematic review. The review highlights clinical features, postoperative complications, reoperation rates, and long-term aesthetic outcomes. The mean age at surgery was 17.5 months (range 9.5-24 months), with an average age at diagnosis of 9.3 months (range 6-10 months). Fronto-orbital advancement was the predominant surgical approach described across all cases. The reoperation rate among patients was 16.6%, with only two cases reporting postoperative complications. In one of our cases, an intraoperative CT scan was utilized to illustrate real-time improvement in frontal bone alignment according to the surgical plan, which significantly contributed to positive long-term clinical outcomes observed during a follow-up period exceeding 24 months. CONCLUSION: IFS, is a rare minor suture synostosis, significantly affects the aesthetic appearance of the forehead and necessitates consideration in the management of AP cases. Surgical intervention has shown minimal reoperation rates and excellent long-term prognosis. These findings are reinforced by recent institutional data and a comprehensive systematic review of the current literature.

Using the SCAR-Q to Evaluate Morbidity of Scars in Craniosynostosis Repair.

OBJECTIVE: While previous literature has investigated the psychosocial impact and aesthetic satisfaction associated with post-operative scarring for certain pediatric craniofacial conditions, the impact of the scar burden resulting from craniosynostosis surgery has not been adequately studied. PARTICIPANTS: SCAR-Q was shared with patients ages 8 and older. Thirty-two complete patient responses were recorded. INTERVENTIONS: SCAR-Q is a PROM that consists of three independent scales - appearance, symptoms, and psychosocial impact - associated with a scar. MAIN OUTCOME MEASURES: Mann-Whitney U, linear regression, and Pearson correlation tests were used to evaluate associations between the scales, in addition to patient characteristics such as sex and suture involvement. RESULTS: Mean ages at time of surgery and survey completion were 9.65 ± 10.10 months and 12.10 ± 3.92 years, respectively. Mean scale scores were 81.5 ± 17.9 for appearance, 86.8 ± 12.4 for symptoms, and 79.3 ± 25.7 for psychosocial impact. Higher patient dissatisfaction with scar appearance correlated with more scar-related symptoms (r = 0.389; p = 0.028) and a greater psychosocial impact (r = 0.725; p < 0.001). SCAR-Q scales did not significantly correlate with age at surgery, age at survey completion, type of synostosis, or type of surgery; however, female patients reported lower mean appearance (65.4 vs. 86.0; p = 0.012) and psychosocial impact (57.3 vs. 85.5; p = 0.010) scores when compared to their male counterparts. CONCLUSIONS: It is vital that surgeons discuss patients' aesthetic satisfaction following craniosynostosis surgery in order to appropriately address and limit deleterious, long-term physical and psychosocial outcomes.

Cranial bone microarchitecture in a mouse model for syndromic craniosynostosis.

Crouzon syndrome is a congenital craniofacial disorder caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2). It is characterized by the premature fusion of cranial sutures, leading to a brachycephalic head shape, and midfacial hypoplasia. The aim of this study was to investigate the effect of the FGFR2 mutation on the microarchitecture of cranial bones at different stages of postnatal skull development, using the FGFR2C342Y mouse model. Apart from craniosynostosis, this model shows cranial bone abnormalities. High-resolution synchrotron microtomography images of the frontal and parietal bone were acquired for both FGFR2C342Y/+ (Crouzon, heterozygous mutant) and FGFR2+/+ (control, wild-type) mice at five ages (postnatal days 1, 3, 7, 14 and 21, n = 6 each). Morphometric measurements were determined for cortical bone porosity: osteocyte lacunae and canals. General linear model to assess the effect of age, anatomical location and genotype was carried out for each morphometric measurement. Histological analysis was performed to validate the findings. In both groups (Crouzon and wild-type), statistical difference in bone volume fraction, average canal volume, lacunar number density, lacunar volume density and canal volume density was found at most age points, with the frontal bone generally showing higher porosity and fewer lacunae. Frontal bone showed differences between the Crouzon and wild-type groups in terms of lacunar morphometry (average lacunar volume, lacunar number density and lacunar volume density) with larger, less dense lacunae around the postnatal age of P7-P14. Histological analysis of bone showed marked differences in frontal bone only. These findings provide a better understanding of the pathogenesis of Crouzon syndrome and will contribute to computational models that predict postoperative changes with the aim to improve surgical outcome.

A coddling of the sagittal suture: inequality in spring-assisted expansion.

PURPOSE: We examined differences in long-term morphometric outcomes of spring-mediated cranioplasty (SMC) for various forms of isolated nonsyndromic sagittal craniosynostosis. METHODS: A retrospective review was performed of children who underwent SMC from 2011 to 2020 at the Children's Hospital of Philadelphia. Cephalic indices (CI), Whitaker grades, parietal bone thickness, and degree of suture fusion were assessed. Frontal bossing and vertex-nasion-opisthocranion (VNO) angles were compared to a normal control group. RESULTS: Fifty-four subjects underwent surgery at age 3.6 ± 1.0 months with follow-up of 6.3 ± 1.8 years. Mean CI was 75.2 ± 4.1 at 5.9 ± 2.0 years postoperatively. Mean CI were 75.8 ± 4.1 (n = 32), 76.4 ± 4.0 (n = 22), and 77.1 ± 4.8 (n = 11) at 5, 7, and 9+ years postoperatively, respectively. Three (5.6%) required reoperation for persistent scaphocephalic cranial deformity. Fifty-one (94.4%) were Whitaker Grade I. On physical examination, 12 (22.2%) demonstrated craniofacial abnormalities. At long-term follow-up, there were no differences in frontal bossing angle (102.7 ± 5.2 degrees versus 100.7 ± 5.6 degrees, p = .052) and VNO angle (44.9 ± 3.3 degrees versus 43.9 ± 2.2 degrees, p = .063) between study and control groups. Younger age at surgery predicted a lower Whitaker grade, more normalized VNO angle, and greater change in CI during active expansion. Increased percentage fused of the posterior sagittal suture predicted a higher Whitaker grade, while decreased anterior fusion was associated with frontal bossing and temporal hollowing. CONCLUSIONS: Overall, children undergoing spring-mediated cranioplasty for sagittal craniosynostosis demonstrated maintenance of CI, favorable cosmetic outcomes, and a low reoperation rate at mid-term follow-up. Early intervention is associated with improved aesthetic outcomes, and regional fusion patterns may influence long-term craniofacial dysmorphology.

A Case of Bilateral Lambdoid and Sagittal Synostosis Diagnosed with Skull Fracture after Vacuum-assisted Delivery: A Case Report and Literature Review.

Craniosynostosis (CS) can develop in the fetal period, but it is difficult to diagnose prenatally. In this case, a 3-month-old female baby developed extensive subgaleal hematoma and severe anemia after vacuum-assisted delivery. Her computed tomography showed bilateral lambdoid and sagittal synostosis (BLSS) with a depressed fracture of the right parietal bone. She was referred to our hospital for treatment of the CS. At 4 months of age, she underwent bilateral lambda and sagittal suturectomy and foramen magnum decompression. CS may result in trauma at delivery, because CS disturbs fetal head molding during delivery and disrupts passage through the birth canal. In particular, the risk of severe peripartum trauma is thought to increase in cases of CS with multiple suture fusions, such as those observed in BLSS, due to the strong inhibition of this process of passage through the birth canal. Therefore, if the delivery is abnormally prolonged or if the infant has a massive subgaleal hematoma, it is important to perform evaluations for CS after birth.

Mystery of the Muenke midface: spheno-occipital synchondrosis fusion and craniofacial skeletal patterns.

PURPOSE: The spheno-occipital synchondrosis (SOS) is an important site of endochondral ossification in the cranial base that closes prematurely in Apert, Crouzon, and Pfeiffer syndromes, which contributes to varying degrees of midface hypoplasia. The facial dysmorphology of Muenke syndrome, in contrast, is less severe with low rates of midface hypoplasia. We thus evaluated the timing of SOS fusion and cephalometric landmarks in patients with Muenke syndrome compared to normal controls. METHODS: Patients with Muenke syndrome who had at least one fine-cut head computed tomography scan performed from 2000 to 2020 were retrospectively reviewed. A case-control study was performed of patient scans and age- and sex-matched control scans. SOS fusion status was evaluated as open, partially closed, or closed. RESULTS: We included 28 patients and compared 77 patient scans with 77 control scans. Kaplan-Meier analysis demonstrated an insignificantly earlier timeline of SOS fusion in Muenke syndrome (p = 0.300). Mean sella-orbitale (SO) distance was shorter (44.0 ± 6.6 vs. 47.7 ± 6.7 mm, p < 0.001) and mean sella-nasion-Frankfort horizontal (SN-FH) angle was greater (12.1° ± 3.8° vs. 10.1° ± 3.2°, p < 0.001) in the Muenke group, whereas mean sella-nasion-A point (SNA) angle was similar and normal (81.1° ± 5.7° vs. 81.4° ± 4.7°, p = 0.762). CONCLUSION: Muenke syndrome is characterized by mild and often absent midfacial hypoplasia, with the exception of slight retropositioning of the infraorbital rim. Interestingly, SOS fusion patterns in these patients are not significantly different from age- and sex-matched controls despite an increased odds of fusion. It is possible that differences in timing of SOS fusion may manifest phenotypically at the infraorbital rim rather than at the maxilla.

Encephalocele as a complication post-craniosynostosis surgery.

Duraplasty is one of the most common neurosurgical procedures which complications include iatrogenic pseudomeningocele, which is common, but ossification of pseudomeningocele following cranial surgery is a rare event. We present a case of a 2-year-old male patient who came to our hospital with a huge bulge in his head and weakness in the right arm and leg. He had a history of sagittal craniosynostosis with a postoperative cranioplasty complication of left parital pseudomeningocele. He underwent a duraplasty, but the bulge recurred with failed cerebrospinal fluid aspiration and external ventricular drain, changing in size periodically. Computed tomography showed that the bulge was a median and left paramedian parital encephalocele, so encephalocele with ossification was diagnosed and a cranioplasty was done. This case highlights that iatrogenic encephaloceles with ossification can develop after duraplasty repair in the parital region. Also, if a postoperative pseudomeningocele changes in size or consistency, clinicians should look for ossification.

Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome.

Apert syndrome is an inherited condition with autosomal dominant transmission. It is also known as acrocephalosyndactyly type I, being characterized by a syndrome of craniosynostosis with abnormal head shape, facial anomalies (median hypoplasia), and limb deformities (syndactyly, rhizomelic shortening). The association can suspect the prenatal diagnosis of these types of anomalies. The methodology consisted of revising the literature, by searching the PubMed/Medline database in which 27 articles were selected and analyzed, comprising 32 cases regarding the prenatal diagnosis of Apert syndrome. A series of ultrasound parameters, the anatomopathological abnormalities found, the obstetric results, and the genetic tests were followed. The distribution of imaging results (US, MRI) identified in the analyzed cases was as follows: skull-shaped abnormalities were evident in 96.8% of cases, facial abnormalities (hypertelorism 43.7%, midface hypoplasia 25%, proptosis 21.8%), syndactyly in 87.5%, and cardiovascular abnormalities in 9.3%. The anomalies detected by the ultrasound examination of the fetus were confirmed postnatally by clinical or gross evaluation or imaging. The management of these cases requires an early diagnosis, an evaluation of the severity of the cases, and appropriate parental counseling.

The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.

Craniosynostosis constitutes one of the most common congenital cranial malformations, affecting approximately 6/10,0000 live births. A genetic etiology has long been known for several forms of syndromic craniosynostosis, including pathogenic variants in TWIST1 and FGFR3 in children with Saethre-Chotzen and Muenke syndrome. Over the last decade, reports of genetic aberrations in TCF12 in children with craniosynostosis have emerged, in particular in cases with premature closure of the coronal suture(s). In this study, we, therefore, systematically reviewed the rapidly growing knowledge of TCF12-related coronal craniosynostosis, clearly illustrating its high degree of genotype and phenotype variability. With the two novel cases presented, at least 113 cases of TCF12-related coronal craniosynostosis have currently been reported. By pooling data from several prospectively collected undifferentiated craniosynostosis cohorts (ntotal = 770), we estimate a prevalence of pathogenic TCF12 variants of at least 2%. Overall, pathogenic germline variants in TCF12 are relatively frequent in children with coronal craniosynostosis, accounting for ∼10-20% of TWIST1- and FGFR1/2/3-negative cases, with even higher rates for bicoronal and syndromic cases. Genetic counseling is recommended for all children with craniosynostosis, and involvement of the coronal suture(s) should precipitate TCF12 testing.

Persistent Depression of the Lambda Site with Progressive Skull Deformity May Be a Sign of Suture Closure: Case Series and Pathologic Consideration.

BACKGROUND: Flat head syndrome (FHS) sometimes occurs when a baby maintains the same head position during the first several months of life, causing a skull deformity. FHS usually improves with time and natural growth, although some show aggravation against conservative treatment. We reviewed pathologically proved early closure of skull suture that may be seen secondary to FHS. METHODS: The clinical and radiologic findings of the patients who showed progressive skull deformity resembling FHS were retrospectively reviewed. All the patients underwent surgical treatment and pathologic specimens were obtained. RESULTS: The detected patients included two 5-month-old infants and one 1-year-old child. The former were conservatively treated without any obvious premature suture closure on computed tomography (CT), and later developed progressive tower-like skull deformities. The infants were diagnosed with possible premature fusion of lambda site and underwent removal around lambda depression (LD). The latter showed evident sagittal suture closure on CT with digital markings, and was diagnosed with increased intracranial pressure and underwent cranioplasty of posterior expansion. Histopathologic specimens obtained from the patients' resected sutures showed irregularly narrowed suture structure with ossification and fibrous tissue proliferation within them, supporting the diagnosis of premature closure of the sagittal sutures. Their postoperative courses were uneventful, and their skull deformities subsequently improved. CONCLUSIONS: Conservative therapy-resistant progressive occipital skull deformity with LD may be a sign of early suture closure, even if CT does not show obvious suture closure. The findings are helpful for early diagnosis and might lead to minimal invasive surgery if needed.

Endoscopic surgery for craniosynostosis: a bibliometric analysis of primary studies.

INTRODUCTION: Bibliometrics, a statistical method assessing the influence of scholarly works, was employed to analyze the evolution of endoscopic surgery for craniosynostosis. METHODS: This comprehensive review followed PRISMA guidelines, sourcing data from PubMed, Embase, and Web of Science, focusing on clinical and surgical outcomes up to December 2023. We identified 1409 records, with 83 papers meeting inclusion criteria. RESULTS: The majority of studies originated from the Americas (79%), predominantly from the United States (75.9%). The typical study design was retrospective cohort studies (62%), involving a total of 8,175 patients with median research duration of 8 years. Citation metrics indicated an average count of 38.9 per paper, with notable contributions from several key authors. A distinct increase in research was observed in recent years, particularly from 2011 onwards, peaking in 2022 and 2023. The top 10 most cited papers, largely emanating from the U.S., had a higher median patient number (103) compared to the overall median (53), suggesting their significant impact. These papers were primarily published in journals with higher impact factors and citation indicators. The most cited research was notably published in the Journal of Neurosurgery-Pediatrics. CONCLUSION: This analysis provides a comprehensive view of the field, highlighting the growing trend and clinical importance of endoscopic approaches in craniosynostosis, offering a valuable resource for future research and clinical practice.

[Forehead in craniosynostoses]. / Le front des craniosténoses.

The forehead is the cranial part of the forehead, and represents an important component of facial esthetics. The deformations linked to craniosynostoses are characterized by modifications in height, width, and angulation. Their surgical correction during childhood is based on well-established techniques of remodeling using resorbable osteosynthesis. Today, distraction and springs allow less invasive procedures with good outcomes. Sequellae mainly correspond to hypotrophies of the temporal region, corrected with fat grafting. The presence of a mutation increases the risk of reoperation in the first six years of life.

Estimating infant age from skull X-ray images using deep learning.

This study constructed deep learning models using plain skull radiograph images to predict the accurate postnatal age of infants under 12 months. Utilizing the results of the trained deep learning models, it aimed to evaluate the feasibility of employing major changes visible in skull X-ray images for assessing postnatal cranial development through gradient-weighted class activation mapping. We developed DenseNet-121 and EfficientNet-v2-M convolutional neural network models to analyze 4933 skull X-ray images collected from 1343 infants. Notably, allowing for a ± 1 month error margin, DenseNet-121 reached a maximum corrected accuracy of 79.4% for anteroposterior (AP) views (average: 78.0 ± 1.5%) and 84.2% for lateral views (average: 81.1 ± 2.9%). EfficientNet-v2-M reached a maximum corrected accuracy 79.1% for AP views (average: 77.0 ± 2.3%) and 87.3% for lateral views (average: 85.1 ± 2.5%). Saliency maps identified critical discriminative areas in skull radiographs, including the coronal, sagittal, and metopic sutures in AP skull X-ray images, and the lambdoid suture and cortical bone density in lateral images, marking them as indicators for evaluating cranial development. These findings highlight the precision of deep learning in estimating infant age through non-invasive methods, offering the progress for clinical diagnostics and developmental assessment tools.

Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile).

TUBG1, a tubulin gene, plays an important role in neurodevelopment. Here we describe a case of a novel TUGB1 mutation (NM_001070.4:c.821C>T) (p.Thr274Ile). This patient presented similarly to previous cases with features including microcephaly, epilepsy, and speech and motor delay. Unique characteristics were also present such as trigonocephaly, tethered frenulum, scoliosis, nystagmus, and a concurrent FBXW7 mutation. This case expands our breadth of knowledge on TUBG1 genotypic and phenotypic variation. However, further work is needed to fully understand this rare mutation and the associations between TUBG1 and FBXW7 mutations.

Radiographic severity is associated with worse executive function in metopic craniosynostosis.

BACKGROUND: Children with metopic synostosis have been found to have more neurocognitive and behavioral difficulties. The variables that may affect future neurodevelopmental outcomes, including presenting morphologic severity, have not been fully studied. In the largest study to date, we aimed to assess what portends worse neurocognitive and behavioral outcomes at school age. METHODS: Children 6-18 years old with surgically corrected metopic nonsyndromic craniosynostosis underwent neurocognitive testing. Parents completed behavior rating surveys about their child: Conners-3 (ADHD), Social Responsiveness Scale-2 (autism spectrum disorder), Behavior Rating Inventory of Executive Function-2 (BRIEF-2: executive function), and Child's Behavior Checklist (overall behavior). The endocranial bifrontal angle (EBA), adjusted EBA (aEBA), frontal angle (FA), and AI-derived metopic severity score (MSS) were determined on pre-operative CT images. Multivariate linear regressions were used to evaluate the association of age at surgery and severity. RESULTS: There were 87 children who underwent neurocognitive testing (average age 10.9 ± 3.3 years) of whom 67 also completed behavioral assessments. Greater phenotypical severity of metopic synostosis (lower FA, aEBA, and EBA) was associated with worse scores on the subscales of the BRIEF-2 (executive function) and executive subscale of the Conners-3. Increasing age at surgery was associated with worse executive function subscale scores of the Conners-3 when controlling for each severity measurement and sociodemographic risk. CONCLUSION: Children with greater phenotypic severity of metopic synostosis have worse executive function at school age. The majority of children with metopic synostosis have signs of ADHD. Later surgeries (greater than 12 months) may impact executive functioning, regardless of the degree of severity. Future research should aim at identifying the direct structural changes to the brain.

Rare Case of a 20p13 Duplication Trisomy With Craniostenosis.

Duplication 20p or partial trisomy 20 is a rare chromosomal anomaly characterized by duplication of the short arm of chromosome 20, with various clinical abnormalities. Despite complete trisomy 20, which usually leads to prenatal death, partial trisomy 20 can manifest with variable phenotypes, from mild to severe manifestations. Here, we present a rare case of an 8-year-old boy diagnosed with trisomy 20, epilepsy with focal seizures of genetic origin, craniosynostosis, type 1 diabetes, and autism spectrum disorder. Duplication 20p is a complex diagnostic and presents a therapeutic challenge due to its diverse clinical manifestations. To succeed in the intricacy of such a unique and challenging case, a comprehensive clinical and genetic assessment must be performed.

Implementation of an Enhanced Recovery After Surgery Protocol for Cranial Vault Remodeling Procedures.

BACKGROUND: Enhanced recovery after surgery (ERAS) protocols have been implemented across surgical disciplines, including cranial vault remodeling for craniosynostosis. The authors aim to describe the implementation of an ERAS protocol for cranial vault remodeling procedures performed for patients with craniosynostosis at a tertiary care hospital. DESCRIPTION: Institutional review board approval was received. All patients undergoing a cranial remodeling procedure for craniosynostosis at the authors' institution over a 10-year period were collected (n = 168). Patient and craniosynostosis demographics were collected as well as operative details. Primary outcome measures were intensive care unit length of stay (ICU LOS) and narcotic usage. Chi squared and independent t-tests were employed to determine significance. A significance value of 0.05 was utilized. RESULTS: During the time examined, there were 168 primary cranial vault remodeling procedures performed at the authors' institution - all of which were included in the analysis. Use of the ERAS protocol was associated with decreased initial 24-hour morphine equivalent usage (p < 0.01) and decreased total morphine equivalent usage (p < 0.01). Patients using the ERAS protocol experienced a shorter ICU LOS (p < 0.01), but the total hospital length of stay was unchanged. CONCLUSION: This study reiterates the benefit of developing and implementing an ERAS protocol for patients undergoing cranial vault remodeling procedures. The protocol resulted in an overall decreased ICU LOS and a decrease in narcotic use. This has implications for ways to maximize hospital reimbursement for these procedures, as well as potentially improve outcomes.