The original excitement of participating in large, complex and long surgical cases to treat craniosynostosis during our training years gave way to disappointment, frustration, and dissatisfaction with the long-term clinical results of these surgeries. Even though the patients immediately looked great and had significant improvement at the end of the surgical procedure, for most patients, the improvement began to deteriorate consistently over time. The seemingly rounded and normal forehead and cranial vault almost invariably gave way to bumps, lumps, depression, asymmetry, turricephaly, and reversion to preoperative deformities. The patients developed what we term the “operated upon” look, with prominent scars and areas of alopecia and unwanted deformities. These were consistent findings regardless of the specific type of procedure performed. The very traumatic and invasive nature of these traditional procedures, with significant blood losses and transfusions, did not justify their use given the inconsistent and suboptimal results, in our mind. This frustration was the catalyst that moved us to think of alternative treatment options. The concept of a simple linear strip craniectomy had been around since the 1890s but fell out of favor because of the relapse of many of the patients, particularly sagittal synostosis infants. A combination of factors led to the acceptance and widespread use of calvarial remodeling techniques. The introduction of novel craniofacial techniques by Tessier and the formation of multidisciplinary craniofacial teams and centers using these techniques led to their widespread use. The genetically driven tendency of sagittal patients to return to a scaphocephalic head shape led to the assumption that strip craniectomies alone do not work, which is of course the case. Moss’ proposal and advancement of his theory that the real problem is at the skull base and not at the sutural level further led surgeons to embrace the larger, more complex surgeries. The invasive nature of these reconstructive procedures required the patients to be older, bigger, and have greater weight and blood volume. Waiting close to a year of age meant that the deformities continued to progress and worsen as time went by, making the corrective surgery even more challenging.
We began to conceptualize and develop ideas related to addressing what we believe is the only and primary problem: the premature closure of the suture. In an otherwise normal head, if we could reopen the closed suture at a very early age, the normal process of brain growth and subsequent cranial and facial development should follow unimpeded. Given my experience using endoscopes to treat brain conditions and the availability of the necessary instruments to do so, the concept of using minimally invasive techniques to operate upon very young infants was developed and refined. We were also aware that cranial and calvarial molding methods to change normal infant’s heads into a desired shape had been successfully practiced for thousands of years by different and varied civilizations (including the Mayan and Inca Indians). We decided to apply cranial molding therapy to follow the surgical release. Thus, 26 years ago began our surgical odyssey into treating infants with minimally invasive endoscopic-assisted craniectomies followed by custom made cranial molding orthoses.
Throughout the history of medicine and surgery, the introduction of new concepts, ideas, and techniques have generated resistance, impedance, and opposition. Our case was no exception and significant and substantial resistance to these new concepts developed soon after our first publications and presentations. The most vociferous and forceful opposition has come from the plastic surgery community and continues, unfortunately, to these current days. However, firmly believing in the underlying concepts and seeing excellent and superb early results, encouraged us not to give in easily to the opposition but to continue on a path of extensive data collection and documentation of our results. We were strongly supported in our efforts by the very parents of the children that we treated. Extremely satisfied with the results, they became ardent advocates and spread the word to other parents electronically, by word of mouth, and through social media and parental blogs. Extensive cranial anthropometric data collection, operative and perioperative database input and analysis, photographic documentation, and long-term follow-up publications and presentations led to acceptance and incorporation of our techniques into the practices of a number of younger neurosurgeons and craniofacial plastic surgeons. Thus, at the insistence and suggestion of a number of parents and surgeons, this book was created to codify and formally present our experience and surgical concepts.
Practical Observations
Not soon after we began treating our patients as described in this book, we began to be questioned by our parents. The typical and universal question was “what have you done to my baby?” “He/she is very different now,” “eats better,” “sleeps better,” “is more restful,” “is more alert,” “more interactive,” and “focuses eyes better.” These and other series of comments were consistently offered by the parents as early as 1 or 2 days after surgery and very commonly within a week, by the time the patient was fitted with the first helmet. Realizing that this was not an isolated phenomenon but rather a consistent one, we decided to look into it in more detail. A number of the patients presented with irritability and fussiness which was commonly ascribed to the child having or experiencing colic. But when the “colic” behavior and irritability soon subsided after the endoscopic release, we hypothesized that it must not be a gastrointestinal problem but rather a cranial compressive problem, such as perhaps a headache. We designed a prospective study which asked the parent to rate the infant’s preoperative irritability and fussiness in terms of severity and frequency. The parents completed the fussiness rating scale questionnaire assessing the amount and intensity of fussiness/irritability and hours of unexplained crying (scale 0–6) ( Table 17.1 ). The rating was done for 1 month preoperatively and 1 month postoperatively following endoscopic sutural release. A total of 89 patients were studied. Of those patients, 87 had single suture involvement and 2 presented with bicoronal synostosis. The ages ranged between 5 weeks and 9.2 months. There were 56 males and 33 females. There were 48 patients with sagittal synostosis, 21 with metopic, and 20 with coronal stenosis. Results showed that for the entire cohort group, the total number of hours of unexplained fussiness preoperatively was 344 hours and the amount of unexplained fussiness (scale >3) was 62% and intensity (scale >3) was 65%. Postoperatively, the total number of hours decreased to 105 hours (−31%), the amount of fussiness decreased to 20%, and intensity to 26%. There were not differences between suture type or patient age (Kruskal-Wallis P > .89). Decreases in the amount of intensity and number of hours were significant between preoperative and postoperative ratings (Wilcoxon signed rank test P < .0001). These results indicate that craniosynostosis is associated with unexplained fussiness/irritability in untreated patients. Surgical release was associated with significant decrease in irritable behavior in these patients. Although a specific etiology is unclear, local or global intracranial pressures may play a role. Thus, more than a coincidence, it does appear that the parents’ observation that their babies had improved soon after surgery was validated by the results of our study. Early release of the suture has a positive effect on the patient’s behavior after surgery.
Neurocognitive Issues
Rates of neurocognitive risk range from 35% to 50% in school-aged children with isolated single suture craniosynostosis. Impairments in verbal short-term memory, speech, and/or language impairment have been reported in isolated single suture stenosis. Specific neuropsychological deficits which have been identified in children presenting with single suture synostosis include a number of conditions and affect visual spatial skills, reading, language, spelling, and disorders of planning and attention, as well as processing speeds. , Consistently, children with single suture craniosynostosis have been found to have higher rates of learning disabilities and related neurocognitive problems than their unaffected peers. Having treated and attended to a large number of craniosynostosis patients in Philadelphia, New York, and Missouri, we noticed in our practice that, indeed, there was a consistent presence of a mild set of neurodevelopmental issues reported by parents on the treated and untreated patients. However, none of the patients underwent formal neuropsychological assessment and thus, no hard core or reproducible data can be presented.
Subsequent to starting our endoscopic minimally invasive treatment protocol of infants with craniosynostosis, both single and multisutural, we began to realize that parents reported their operated children to be normal and devoid of cognitive, developmental, or school problems. At the beginning this appeared to be a random and occasional observation but over time more parents reported similar anecdotal outcomes. After several years of consistently asking parents to discuss their children’s developmental status, it became clear to us that indeed, all of our patients were developing normally and without disabilities or maldevelopment. In 2015 we partnered with Louise O’Donnell, PhD, renowned pediatric neuropsychologist to formally begin assessing and testing our patients who had been treated with endoscopic techniques. We have also begun to test patients before surgery and compare results after surgery. More data are required before we publish the results but some preliminary results will be discussed herein.
Our preliminary study consists of two main target groups. The first study group included 65 infants and toddlers (49 males and 16 females who ranged from 1 month to 15 months of age) who underwent presurgery neuropsychological evaluation and 27 infants and toddlers (20 males and 7 females ranging in age from 3 months to 38 months of age) who returned for a postsurgery neuropsychological evaluation. Thirty-two of the infants had sagittal, six bicoronal, six right coronal, one left coronal, eighteen metopic and two lambdoid surgeries. The neuropsychological evaluation measured the cognitive, motor, language, adaptive behavior, and emotional functioning of the infants and toddlers. The assessment instruments included the Bayley-Scales of Infant and Toddler Assessment-Third Edition and the Bayley-III Social Emotional and Adaptive Behavior Questionnaire. For toddlers, the Differential Abilities Scales-Second Edition, the Adaptive Behavior Assessment Scales, and the Behavior Assessment System for Children was employed. A second group of 33 toddlers and children who ranged in age from 1 to 12 years of age were seen for postsurgery neuropsychological evaluation. There are 23 males and 10 females in this cohort with 18 sagittal, 1 bi-coronal, 3 right coronal, 2 left coronal, 5 metopic, and 4 right lambdoid surgeries. The neuropsychological evaluation measured the cognitive, motor, language, adaptive behavior, and emotional functioning of the children. So far, review of our data demonstrates that all of our nonsyndromic craniosynostosis patients score at average or above average in all tested fields except one patient who has developed autism spectrum disorder. Further data accumulation is needed in order to reach statistical significance but these preliminary results are in concordance with our clinical observations and parental anecdotal reports.
The question begs, why is there such a difference in neuropsychological developmental outcomes in untreated patients, patients treated with calvarial vault remodeling (CVR) procedures at older ages, and the endoscopic treated patients at a young age? The reason is not completely clear but we believe that several factors may play a significant role in the difference. Treating the patients at a very early age allows the brain to develop normally and unrestricted. It stops unwanted and undue pressure on cortical and/or subcortical structures. This constant and ongoing pressure may have deleterious effects when treated the traditional way of waiting for months. Endoscopic patients’ exposure to general anesthesia is minimized with a surgical time of less than 60 minutes and total exposure of about 2 hours, which compares favorably to 8+ hours with CVR procedures. It is now known and accepted that children exposed to general anesthesia before 4 years of age have poorer development at school entry and school performance. , The odds of a formal diagnosis of learning disability by age 12 years in apparently healthy children exposed to general anesthesia for minor surgery during infancy were 4.5 greater than their peers who were never exposed to anesthesia. Lastly, the minimally invasive nature of our procedures associated with small blood volume losses, lack of large intra- and/or postoperative blood transfusions, absence of coagulopathy and need for blood products for its correction, without the presence of significant hypotension or hypoperfusion, leads us to conclude that craniosynostosis patients treated with endoscopic techniques ultimately have better neurodevelopmental outcomes than their peers treated with CVR procedures.
The Ultimate Case
Perhaps no other case brings together and concisely all of the principles discussed in this book regarding craniosynostosis and its early management using minimally endoscopic techniques as the following case. The patient is a singleton female who was born at 39 weeks’ gestation following an uncomplicated pregnancy. At birth, immediate cranial and facial dysmorphic features were noticed ( Fig. 17.1 ). Diagnostic work up with computed tomography (CT) scans demonstrated that the primary deformational cause was premature closure of the left coronal, left lambdoid, and the sagittal suture ( Fig. 17.2 ). The overall brain morphology and architecture were normal, albeit distorted by the calvarial and skull base deformational forces. The parents sought surgical consultation at two craniofacial centers and were told of the diagnosis and were given the recommendation to wait until she was 8 to 10 months and then proceed with a CVR surgery to be done in either one or two stages. The patient’s dysmorphic features continued to worsen over the ensuing days and they sought consultation with our team, having heard and read about our experience with endoscopic procedures.
