The Craniofacial Collaboration UK (CC-UK) has been established across the 4 highly specialized craniofacial centers in the UK since 2015. This joint collective aims to address the current limitations within developmental craniofacial research, using robust clinical data from a homogenous sample of children. This paper presents the third wave of findings from the CC-UK, with consideration to developmental and behavioral parent-report measures. Whilst previous data for sagittal synostosis have been presented, this article summarizes the analysis of these outcomes for children with metopic synostosis (MS) at 3 years who have undergone primary corrective surgery. Results highlight similar patterns to that of earlier CC-UK work, with the majority of children falling within 1 standard deviation of the population normative means across all measures. However, statistically significant difficulties were found between group means for children with MS on various developmental and behavioral domains. Prosocial skills and peer difficulties were reported as the greatest areas of behavioral concern for parents, with prosocial skills found to be below the level expected for their chronological age. In order to further understand the developmental trajectory of children with MS, longitudinal examination of individual diagnostic and specific age groups with single-suture craniosynostosis is crucial. The continuation of the CC-UK provides an opportunity to attain this goal.

The Craniofacial Collaboration UK (CC-UK) is a joint initiative that seeks to address some of the limitations of previous developmental research with this patient group by providing systematically collected, robust data from clinically and chronologically homogenous representative samples of children. The current paper outlines the developmental outcomes at the age of 5 for children who had previously undergone primary surgery for single-suture sagittal synostosis (SS). It shows broad consistencies with the previous CC-UK work, indicating that the majority of children with SS will perform within the average range compared to peers across a number of developmental, behavioral and emotional domains. However, the group mean for children with SS indicates significantly greater difficulties with fine motor skills and hyperactivity, relative to normative data. Unexpectedly, children with SS had significantly better problem solving skills. While it is reassuring that the majority of children are broadly developing in line with their unaffected peers, these small but significant differences may be early indicators of some of the subtle difficulties documented in older children with craniosynostosis. Longitudinal follow up is therefore important to understand the developmental trajectory for children with SS and identification of potentially ‘at risk’ sub groups within this diagnostic cohort.

Heterozygous mutations in the TCF12 gene were discovered in 2013 as a cause of craniosynostosis (CS). However, limited information regarding the behavioral phenotypic profile is available. Here the authors provide the first detailed study of the neurodevelopmental, cognitive, and psychosocial outcomes for patients with a pathogenic TCF12 variant and associated CS. A clinical casenote audit was conducted at the 4 UK highly specialized craniofacial centers. A total of 35 patients aged 18 months to 10 years with an identified TCF12 pathogenic variant and CS (bicoronal CS = 45.7%, unicoronal CS = 40.0%, multisuture = 14.3%) were included. Standardized screening and/or assessment of full-scale intelligence quotient, social communication, development, behavior, and self-concept were conducted. In the majority of cases, outcomes were consistent with age-related expectations. About 75% of patients demonstrated no delay across any early developmental domain, while 84.6% demonstrated full-scale intelligence quotient scores within 1 standard deviation of the population mean. Significant behavioral difficulties were demonstrated by parent reporters in 26.3% to 42.1% of cases (dependent upon domain). Clinically elevated social communication profiles were present in (41.7%) of parent-reported cases. Levels of self-concept (at age 10) were consistent with age-related normative data. Most patients with a TCF12 pathogenic variant had a mild behavioral and cognitive phenotype, although they may be at a slightly increased risk of social communication difficulties and psychosocial issues. Although not measured statistically, there were no clear associations between surgical history and cognitive, behavioral, or psychosocial outcomes. This paper highlights the need for robust integrated developmental assessment of all CS patients, particularly those with an identified syndrome.

Objective While knowledge of the psychosocial impact of craniofacial conditions is growing, literature regarding the impact on parents remains limited. Parents of children born with a health condition may be at risk of experiencing a range of psychosocial challenges. This study conducted an initial investigation of psychosocial adjustment of parents of individuals with craniosynostosis to inform support provision for families. Setting An online UK-wide mixed-methods survey was distributed to members of Headlines Craniofacial Support. Design Quantitative data including standardized measures were analysed using descriptive statistics and independent samples t-tests, and inductive content analysis was used for open-ended questions. Participants Mothers (n  =  109) and fathers (n  =  9) of individuals ages 3 months to 49 years with single suture (63%) or syndromic (33%) craniosynostosis participated. Results Compared to the general population, parents of individuals with craniosynostosis reported higher levels of stress, anxiety, and depression; lower levels of resilience and optimism. Qualitative responses provided insight into parents’ experiences of birth, diagnosis, healthcare provision, familial wellbeing, and relationships. Parents reported several unmet information and support needs, alongside a range of positive outcomes. Conclusions This study illustrates the potential long-term psychosocial implications for parents raising children with craniosynostosis. There is a need for routine psychological screening for family members and provision of appropriate psychological support for those at risk for distress. Non-specialist health professionals may benefit from additional training about craniofacial conditions so they are better equipped to support and refer families.

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.