Examining the Role of Early Diagnostic Imaging for Craniosynostosis in the Era of Endoscopic Suturectomy: A Single Institution Experience.

ABSTRACT: Endoscopic suturectomy is a minimally invasive surgical treatment for single-suture craniosynostosis in children between 1 and 4 months of age. This study sought to characterize the role played by diagnostic imaging in facilitating early surgical management with endoscopic suturectomy. The authors also characterized the overall diagnostic utility of imaging in patients assessed for abnormal head shape at their institution, regardless of surgical status. A retrospective cohort of children diagnosed with singlesuture synostosis undergoing either primary endoscopic suturectomy or open calvarial reconstruction at the authors' institution from 1998 to 2018 was first reviewed. Of 132 surgical patients, 53 underwent endoscopic suturectomy and 79 underwent open repair. There was no difference in the proportion of endoscopic and open surgery patients imaged preoperatively before (24.5% versus 35.4%; P = 0.24) or after (28.3% versus 25.3%; P = 0.84) craniofacial assessment. Stratifying by historical epoch (1998-2010 versus 2011-2018), there was also no difference found between preoperative imaging rates (63.6% versus 56.4%; P = 0.35). In another cohort of 175 patients assessed for abnormal head shape, 26.9% were imaged to rule out craniosynostosis. Positive diagnostic imaging rates were recorded for suspected unicoronal (100%), metopic (87.5%), lambdoidal (75.0%), sagittal (63.5%), multisuture (50%), and bicoronal (0%) synostosis. The authors conclude that the use of diagnostic imaging at their institution has not increased despite higher utilization of endoscopic suturectomy and need for expedient identification of surgical candidates.However, their results suggest that imaging may play a greater diagnostic role for suspected bicoronal, sagittal, and multi-sutural synostosis among sutural subtypes of synostosis.

Transseptal interforniceal endoscopic removal of superiorly recessed colloid cysts.

OBJECTIVE: Transforaminal endoscopic colloid cyst resection is well described. However, some anatomical colloid cyst variants may warrant a modified approach. Rarely, colloid cysts separate the forniceal columns and grow superiorly within the leaflets of the septum pellucidum. Thus, the authors' goal was to characterize the imaging features, clinical presentation, surgical strategy, and outcomes of patients with this superiorly recessed colloid cyst variant. METHODS: A retrospective evaluation of patients who underwent endoscopic resection of colloid cysts from 1999 to 2020 was performed. The patients were dichotomized depending on whether the cyst was located predominately below the forniceal columns or was superiorly recessed (forniceal column separation with variable intraseptal extension). This comparative cohort study focused on clinical presentation, imaging features, operative technique, and patient outcome. RESULTS: In total, 182 patients were identified. Seventeen patients had colloid cysts that were defined as superiorly recessed and underwent transseptal interforniceal removal, and 165 patients underwent a standard transforaminal approach. Patients had similar demographic characteristics. However, transseptal cysts were on average larger (17.8 mm vs 11.4 mm, p < 0.0001), and these patients had a greater frontal-occipital horn ratio (0.45 vs 0.41, p = 0.012). They were also more likely to have undergone a previous resection (p = 0.02). The two cohorts had similar surgical outcomes, with no differences in extent of resection, recurrence, or complications. CONCLUSIONS: Superiorly recessed intraseptal colloid cysts are larger and tend to splay the bodies of the fornix, thus requiring a parasagittal transseptal interforniceal endoscopic approach. This achieves complete removal with comparatively negligible morbidity or rare recurrence (5.9%).

Colloid cysts of the third ventricle in children.

OBJECTIVE: The rarity of colloid cysts in children makes it difficult to characterize this entity and offer meaningful advice on treatment. Infrequent case reports exist, but to date there has been no age-specific assessment. The purpose of this study was to define any differences between children and adults who are evaluated and treated for colloid cysts of the third ventricle. METHODS: Patients with colloid cysts were reviewed and stratified by age. Individuals ≤ 18 years of age were defined as pediatric patients and those > 18 years of age as adults. Clinical and radiographic data, treatment, and postoperative outcomes were compared between both groups. Bivariate analysis was conducted using the Fisher exact test for categorical variables and Mann-Whitney U-test for continuous variables. RESULTS: Of 132 endoscopic resections (121 primary, 10 secondary, and 1 tertiary) of a colloid cyst, 9 (6.8%) were performed in pediatric patients (mean age 14.1 years, range 9-18 years) and 123 (93.2%) were performed in adult patients (mean age 43.8 years, range 19-73 years). Cases were found incidentally more commonly in pediatric than adult patients (66.7% vs 37.4%, p > 0.05), and pediatric patients had lower rates of hydrocephalus than adult patients (11.1% vs 63.4%, p < 0.05). Acute decompensation at presentation was found in 8 adults (6.5%) but no children. Complete cyst removal (88.9% vs 90.2%, p > 0.05) and length of stay (1.6 days vs 2.9 days, p > 0.05) were not significantly different between the groups. Postoperative complications (6.5% in adults, 0% in children) and recurrence (2.4% in adults, 0% in children) were rare in both groups, and there were no treatment-related deaths. The mean postoperative radiological follow-up was longer in pediatric patients (45 months, range 4-89 months) than adults (44.1 months, range 1-171 months). CONCLUSIONS: While differences exist between children and adults regarding colloid cyst presentation, these are in keeping with the predicted evolution of a slow-growing lesion. Consistent with this observation, children had lower rates of hydrocephalus and a smaller mean maximal cyst diameter. Contrary to the published literature, however, sudden deterioration was not observed in pediatric patients but occurred in adult patients. In this limited pediatric sample size, the authors have not recorded any postoperative complications or recurrences to date. These encouraging results with endoscopic removal may positively impact future decisions related to children given their protracted life expectancy and projected rates of progression.

Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers.

Mutations and variants in the glucocerebrosidase (GBA) gene are among the most common genetic risk factors for the development of Parkinson's disease (PD). Yet, penetrance is markedly reduced, and less is known about the burden of carrying a single mutation among those without diagnosed PD. Motor, cognitive, psychiatric, and olfactory functioning were assessed in 30 heterozygous GBA mutation carriers without PD (the majority of whom had mild GBA mutations) and 49 non-carriers without PD. Study focus was on domains affected in GBA mutation carriers with PD, as well as those previously shown to be abnormal in GBA mutation carriers without PD. GBA mutation carriers showed poorer performance on the Stroop interference measure of executive functioning when controlling for age. There were no group differences in verbal memory, Montreal Cognitive Assessment (MoCA), overall motor score, or presence of REM sleep behavior disorder or depression. Although total olfaction scores did not differ, GBA mutation carriers with hyposmia had lower global cognition scores than those without hyposmia. As anticipated by the low penetrance of GBA mutations, these findings suggest that pre-manifest non-motor or motor features of PD may not present in most GBA mutation carriers. However, there is support that there may be a subtle difference in executive functioning among some non-manifesting heterozygous GBA mutation carriers, and, combined with olfaction, this may warrant additional scrutiny as a potential biomarker for pre-manifest and pre-clinical GBA related PD.

Impact of a Multidisciplinary Craniofacial Clinic for Patients With Craniofacial Syndromes on Patient Satisfaction and Outcome.

OBJECTIVE: Multidisciplinary clinics are becoming widely utilized. Given the number of patients with craniofacial syndromes evaluated at our institution, and the burden of assessment by multiple subspecialists, we created an American Cleft Palate-Craniofacial Association-certified Craniofacial Multidisciplinary Clinic (CMC) composed of a nurse practitioner, neurosurgeon, plastic surgeon, otolaryngologist, oromaxillofacial surgeon, geneticist, pulmonologist, occupational therapist, dentist, and child life specialist to improve patient experience, lessen the burden of assessment, decrease time to surgery, and improve patients' understanding of the diagnosis and treatment plan specifically for patients with complex craniofacial syndromes. We reviewed the impact of this clinic after 1 year of implementation. DESIGN: Retrospective review was performed to identify patients with craniofacial syndromic diagnoses seen by the neurosurgery department before and after implementation of the CMC from February 2017 to present. SETTING: The CMC is an outpatient clinic based in a tertiary care academic institution. PATIENTS: Chart review was performed to identify demographic, diagnostic, clinical, and treatment data. We assessed clinic experience, and the impact on quality of clinical and surgical care was assessed via survey. We compared this cohort to patients with similar craniofacial syndromes treated prior to the CMC. Thirty patients seen at the CMC were identified, and data from a comparable cohort of 30 patients seen prior to the clinic's inception was reviewed. RESULTS: Our CMC survey response rate was 67% (n = 20/30) for the CMC patients. Second opinions sought by parents prior to CMC was higher (mean = 0.85, range: 0-3) than for patients seen at the CMC (mean = 0.16, range: 0-1). Mean time to surgery before the CMC was 10.1 months (range: 1-15) compared to 4 months (range: 3-5) after implementation. Parents agreed that they felt well-informed about their diagnosis (n = 18/20, 90%), and that the presence of a plastic surgeon (19/20, 95%) and a nurse practitioner (17/20, 85%) were valuable in coordination of their care. Following surgery, 76% (n = 13/17) of patients who received surgery were happy with the outcome, 76% (n = 13/17) were happy with the appearance of the scar, and 95% (n = 19/20) would recommend the CMC to others. CONCLUSION: Multidisciplinary evaluation of patients with complex craniofacial conditions provides comprehensive, efficient, and effective care, as well as improved parent satisfaction and knowledge base.

Developing a 3D composite training model for cranial remodeling.

OBJECTIVE: Craniosynostosis correction, including cranial vault remodeling, fronto-orbital advancement (FOA), and endoscopic suturectomy, requires practical experience with complex anatomy and tools. The infrequent exposure to complex neurosurgical procedures such as these during residency limits extraoperative training. Lack of cadaveric teaching tools given the pediatric nature of synostosis compounds this challenge. The authors sought to create lifelike 3D printed models based on actual cases of craniosynostosis in infants and incorporate them into a practical course for endoscopic and open correction. The authors hypothesized that this training tool would increase extraoperative facility and familiarity with cranial vault reconstruction to better prepare surgeons for in vivo procedures. METHODS: The authors utilized representative craniosynostosis patient scans to create 3D printed models of the calvaria, soft tissues, and cranial contents. Two annual courses implementing these models were held, and surveys were completed by participants (n = 18, 5 attending physicians, 4 fellows, 9 residents) on the day of the course. These participants were surveyed during the course and 1 year later to assess the impact of this training tool. A comparable cohort of trainees who did not participate in the course (n = 11) was also surveyed at the time of the 1-year follow-up to assess their preparation and confidence with performing craniosynostosis surgeries. RESULTS: An iterative process using multiple materials and the various printing parameters was used to create representative models. Participants performed all major surgical steps, and we quantified the fidelity and utility of the model through surveys. All attendees reported that the model was a valuable training tool for open reconstruction (n = 18/18 [100%]) and endoscopic suturectomy (n = 17/18 [94%]). In the first year, 83% of course participants (n = 14/17) agreed or strongly agreed that the skin and bone materials were realistic and appropriately detailed; the second year, 100% (n = 16/16) agreed or strongly agreed that the skin material was realistic and appropriately detailed, and 88% (n = 14/16) agreed or strongly agreed that the bone material was realistic and appropriately detailed. All participants responded that they would use the models for their own personal training and the training of residents and fellows in their programs. CONCLUSIONS: The authors have developed realistic 3D printed models of craniosynostosis including soft tissues that allow for surgical practice simulation. The use of these models in surgical simulation provides a level of preparedness that exceeds what currently exists through traditional resident training experience. Employing practical modules using such models as part of a standardized resident curriculum is a logical evolution in neurosurgical education and training.

Endoscopic removal of recurrent colloid cysts.

OBJECTIVE: Removal of colloid cysts of the third ventricle using a purely endoscopic method has been established as a safe and advantageous technique. It is hypothesized that endoscopic removal in recurrent cases might pose more technical challenges and result in less success. The objective of this study was to assess the feasibility and outcomes of using a purely endoscopic approach for the management of recurrent colloid cysts compared to primary cysts. METHODS: A retrospective cohort study was performed on patients who underwent purely endoscopic removal of their colloid cyst. Descriptive statistics were compared for patients undergoing surgery for a recurrent cyst and those for a control cohort undergoing surgery for a primary cyst. Bivariate analysis was conducted using a Fisher's exact test for categorical variables and Mann-Whitney U-test for continuous variables. RESULTS: In total, 121 patients had a primary colloid cyst endoscopically removed and 10 patients had a total of 11 recurrent cysts removed. Recurrence or progression after surgery occurred in 3 (2.5%) cases in the primary cyst group and 2 (18.2%) cases in the recurrent cyst group. Symptomatic presentation during the follow-up period occurred in 6 (54.5%) cases in the recurrent cyst group versus 75 (62%) cases in the primary cyst group (p = 0.749). Two patients (20%) in the recurrent group had a second recurrence in a mean period of 30 months (1 patient at 15 and 1 patient at 45 months). One of these patients required a tertiary endoscopic removal 8 years after the second resection. No immediate postoperative complications or new morbidities were observed after repeat endoscopic surgery. The authors' findings indicated a nonsignificant trend toward a higher recurrence rate (18.2% vs 2.5%, p = 0.055) and a decreased proportion of complete removal (90.9% vs 81.8%, p = 0.296) in the recurrent cyst group compared to the primary cyst group. However, a significantly higher rate of preoperative hydrocephalus was observed in the primary cyst group compared with the recurrent cyst group (63.6% vs 18.2%, p = 0.007). CONCLUSIONS: Purely endoscopic approaches for the removal of recurrent colloid cysts of the third ventricle are feasible and equally safe compared with endoscopic removal of primary cysts. The study's findings did not show a statistically significant difference in the rate of recurrence between the 2 groups. The proportion of patients with symptomatic cysts on presentation was lower in patients with recurrent cysts than in patients with primary cysts. Due to the high rate of complete removal with negligible morbidity, the authors continue to advocate for an endoscopic removal at the time of cyst recurrence.

Impact of an advanced practice provider-directed plagiocephaly clinic for neurosurgical practices.

OBJECTIVE: In recent years, the Weill Cornell neurosurgical team noticed an increase in referrals for plagiocephaly, likely due to increased infant back-sleeping and awareness. A plagiocephaly clinic staffed by a nurse practitioner and a physician assistant was established in 2016 to meet this demand, and to decrease the nonsurgical case burden on neurosurgeons. The purpose of this study was to examine the impact of a clinic directed by advanced nonphysician practice providers (NPPs) on parental satisfaction and nonsurgical work hours for staff neurosurgeons. METHODS: Over a 1.5-year period (from January 1, 2016, to June 20, 2017), Likert scale-based surveys were administered to parents before and after their child's visit to the NPP-staffed clinic. Clinic hours were tracked to assess impact on the neurosurgeon's workload. RESULTS: All 185 patients seen in the plagiocephaly clinic over the 1.5-year period completed pre- and postvisit surveys. Parents all reported a significant reduction in their level of concern for their child's diagnosis after the evaluation, and 95.5% were "very likely" to recommend the clinic. All parents felt that there was an increase in their knowledge base after an appointment with an NPP. Additionally, over 1 year in the study, 170 visits to the NPP plagiocephaly clinic were recorded, resulting in 85 hours that neurosurgeons normally would have spent in the clinic that they now were able to spend in the operating room. CONCLUSIONS: This research provides evidence that an NPP-directed clinic can positively impact parental satisfaction and decrease nonsurgical case burden on neurosurgeons.