Psychological and Physical Health Outcomes in Adults With Craniosynostosis

Objectives Within current research, little is known about the long-term outcomes of craniosynostosis. A priority-setting exercise by UK charity Headlines Craniofacial Support identified 2 key questions in this area: (1) What are the long-term physical and psychological effects for individuals with syndromic and non-syndromic craniosynostosis? and (2) Are individuals with craniosynostosis likely to suffer from mental health difficulties, or are they more resilient? The aim of the current study was to conduct an initial investigation of these priority questions. Methods A comprehensive UK-wide survey consisting of 9 standardized psychological outcome measures and open-ended questions was distributed online. Thirty-six eligible adults (69.4% female) with a mean age of 30.8 years responded to the survey. Participants reported having single suture craniosynostosis (27.8%) or syndromic craniosynostosis (52.8%), with 19.4% being unsure of their diagnosis. Sample means were compared to published norms using independent samples t tests. Qualitative responses were analysed using inductive content analysis. Results Compared to the general population, participants reported significantly less favorable scores related to appearance concerns, attachment in adult relationships, anxiety, optimism, and resilience. Self-worth, depression, and social anxiety scores were similar to norms. Qualitative responses provided additional insight into participants’ satisfaction with appearance, physical health, medical treatment, employment, relationships, and recurrence risks. Few participants had accessed psychological support. Discussion This preliminary study illustrates the potential long-term implications for individuals with craniosynostosis. Improved treatment protocols are needed to address physical health concerns in adulthood, while dedicated psychological resources are necessary to promote emotional well-being, social confidence, and resilience.

Syndromic Craniosynostosis: Objective and Parent-Reported Outcome Measurements after Cranio-Facial Remodelling Surgeries

<b><i>Introduction:</i></b> Syndromic craniosynostosis (SC) is a rare entity compared to the non-syndromic variant. Treatment involves a multidisciplinary approach towards a multitude of problems. Early intervention is known to be better for optimum results. We reviewed outcomes of children with SC who underwent reconstructive cranio-facial surgery. <b><i>Materials and Methods:</i></b> A retrospective study was conducted using data from hospital case files and the picture archival communication system. Objective data like the cephalic index (CI), both preoperatively and post-operatively, were compared. Subjective data for the cosmesis outcome – “Sloan and Whitaker outcome class” – following surgery were assessed. Also, parent-reported outcome measurement (PROM) was performed with various parameters to assess quality of life (QOL). <b><i>Results:</i></b> We had 21 operated cases of SC, with 19 needing cranio-facial remodelling. The male to female ratio was 11:10. Crouzon’s syndrome was the most common syndromic association followed by Apert’s syndrome. Nineteen patients underwent cranio-facial remodelling surgeries and 2 underwent the ventriculo-peritoneal shunt only – for raised intracranial pressure (ICP). Nine patients underwent cranial remodelling with fronto-orbital advancements, and 3 of these patients also received le-fort’s type 3 osteotomy and advancement later. Ten patients underwent fronto-orbital advancement with parieto-occipital barrel-stave osteotomies. <b><i>Outcomes:</i></b> Improvement in the CI was maximum at the 6-month follow-up. Six (37.5%) cases had Sloan class 1 outcome, 9 (56.25%) had class 2 outcomes, and 1 patient had a class 6 outcome. Whitaker cosmesis outcomes – 14 out of 16 cases (87.5%) had Category 1 outcomes. PROM was assessed. All parents reported at least a moderate improvement in cosmesis following surgery. Out of 15 cases, 10 (66%) reported significant improvement, while 4 (26.6%) cases reported moderate improvement with respect to eye and visual problems. Four parents reported snoring as a significant problem even after surgery. Most parents felt that the children were doing well, attending regular school, and social well-being was normal and had an overall good QOL. <b><i>Conclusions:</i></b> SC cases may have a multitude of other problems like raised ICP, ophthalmological problems, poor intelligence, and cognition apart from cosmetic concerns. PROMs revealed good outcomes in terms of cosmesis, cognition, and ophthalmological and oral cavity-related problems. Significant improvement in overall QOL was seen in most patients following cranio-facial remodelling surgery.

Differential diagnosis of syndromic craniosynostosis: a case series

Purpose Syndromic craniosynostosis is a rare genetic disease caused by premature fusion of one or multiple cranial sutures combined with malformations of other organs. The aim of this publication is to investigate sonographic signs of different syndromic craniosynostoses and associated malformations to facilitate a precise and early diagnosis. Methods We identified in the period of 2000–2019 thirteen cases with a prenatal suspected diagnosis of syndromic craniosynostosis at our department. We analyzed the ultrasound findings, MRI scans, genetic results as well as the mode of delivery, and postnatal procedures. Results Eight children were diagnosed with Apert Syndrome, two with Saethre Chotzen syndrome, one with Crouzon syndrome, and one with Greig cephalopolysyndactyly syndrome. One child had a mutation p.(Pro253Leu) in the FGFR2 gene. We identified characteristic changes of the head shape as well as typical associated malformations. Conclusion Second trimester diagnosis of syndromic craniosynostosis is feasible based on the identified sonographic signs. In case of a suspected diagnosis a genetic, neonatal as well as surgical counseling is recommended. We also recommend to offer a fetal MRI. The delivery should be planned in a perinatal center.

Craniometrics and Perioperative Variants in Non-Syndromic Single Suture Craniosynostosis with Cranial Vault Remodelling Surgery and Strip Craniotomy with and without Endoscopic Assistance: Systematic Review

Background Craniosynostosis is a major category in craniofacial anomalies defined as premature closure of one or more of cranial sutures. Diagnostic Indices and different measures and landmark points are being chosen according to age, the type of deformity and its severity, surgical procedure and targeted cosmetic outcome. Objectives Primary objective is to compare anthropometric measures Post-operative in short and long term follow up between different surgical modalities and impact on cosmetic outcome and need of second corrective surgical session. Secondary objective is to evaluate the Perioperative events between three surgical modalities in terms of Intra operative events; Estimated Blood Loss (EBL), rate of blood transfusion, Procedure duration and Post-operative events; Hospital Length of Stay, rate of post-operative complications and duration of needed Helmet therapy. Methods and Material The following electronic databases were searched from 2015 to 2019: PubMed, google scholar search engine. Cochrane database of systematic reviews, EMBASE for comparative studies between minimal invasive and open cranial vault remodelling techniques with different types of synostosis. Studies that were eligible if they contain the target keywords in title or abstract, addressing the age group up to 36 months with diagnosis of non- syndromic craniosynostosis by a plastic surgeon or neurosurgeon with or without confirmatory 3D skull reconstruction CT imaging. Follow-up outcomes were measured at 12 months or more. Exclusion criteria included studies lacking of quantitative comparison between open surgery and endoscopic assisted surgery, inclusion of patients with syndromic Craniosynostosis and editorials, abstracts and case reports. Results A total of 385 studies screened for eligibility, seven retrospective cohort studies were included in our systematic review for analysis of population demographics and management outcome with commenting of cosmetic outcome significance in comparison of different surgical modalities. Overall study population reaches 440 patients with different synostosis deformities with average age at surgery ranging from 2 to 6 months for endoscopic groups and 5 to 14 months for open surgery groups with average follow up duration reached 12 months. Analysis showed comparable postoperative cosmetic results between both techniques regardless type of synostosis with better perioperative outcomes such as less blood loss, shorter operations, shorter hospital stays and lower incidence of complications in minimal invasive and endoscopic assisted procedures groups. Conclusions We conclude that Minimal invasive approaches and especially endoscopic assisted craniotomies is a promising surgical option in craniosynostosis management. Regardless type of synostosis deformity, current literature comparing endoscopic and open CVR repair showed no statistical significant difference in craniometric analysis of cosmetic post-operative outcomes of both techniques. With improved perioperative outcomes, endoscopic assisted surgeries could be preferred for management team ideally for cases before 6 months age. Large population prospective studies and clinical trials are recommended for more high level evidence data for studying craniosynostosis management options for proper surgical decision making.