Craniosynostosis is characterized by the premature fusion of one or more major cranial sutures at birth or soon after. Single-suture non-syndromic craniosynostosis (NSC) is the most common form of craniosynostosis and includes the sagittal, metopic, unicoronal and unilambdoid subtypes. Characterized by an abnormal head shape specific to the fused suture type, NSC can cause increased intracranial pressure. Cranial sutures either originate from the neural crest or arise from mesoderm-derived mesenchymal stem cells. A mixture of environmental and genetic factors contributes to NSC, with genetic causes following a largely polygenic model. Physical examination is used to identify the majority of patients, but accompanying radiographic imaging can be confirmatory. The three major surgical techniques in use to treat NSC are cranial vault remodelling, strip craniectomy and spring-assisted cranioplasty. Surgical intervention is ideally performed in the first year of life, with a mortality of <1%. Health-care disparities contribute to delayed initial presentation and timely repair. Optimal timing of surgery and comparative outcomes by surgical technique remain under active study. School-age children with treated NSC on average have subtle, but lower cognitive and behavioural performance. However, patient-reported quality of life outcomes are comparable to those in control individuals.

ObjectiveWe assessed the prevalence of guardian-reported reading difficulties in children treated for non-syndromic craniosynostosis (NSC) and in relation to the location of the closed suture. Additionally, we determined correlations with guardian-reported neurodevelopmental disorders (NDDs) and associations between reported reading ability, sex, timing of surgical intervention, parental education, and heredity of reading difficulties in guardians.DesignCross-sectional, prospective, population-based study.SettingTertiary hospital.ParticipantsThe cohort included 127 participants (aged 9-10 years) treated for NSC (76 sagittal, 38 metopic, 9 unicoronal, and 1 each of bicoronal, lambdoid, frontosphenoidal, and multisuture NSC).Main outcome measuresThe prevalence of guardian-reported reading difficulties was defined as a score ≥8 out of 14 points on the Short Dyslexia Scale. We determined associations between reported reading ability and reported NDDs through binomial regression analysis.ResultsThe cohort demonstrated a 14.2% risk of of guardian-reported reading difficulties, with sagittal, metopic, and unicoronal NSCs exhibiting respective prevalences of 10.5%, 18.4%, and 23.1%. NDDs were reported in 22% of participants and significantly associated with reading difficulties.ConclusionsThe results indicated that participants with sagittal NSC showed the lowest risk of reading difficulties. Additionally, we found that NDDs represent significant risk factors for guardian-reported reading difficulties across the patient cohort. These findings underscore the need for targeted screening and support, especially for patients with metopic and unicoronal NSC, to guide clinical and educational decisions.

Craniosynostosis is an atypical skull shape characterized by the premature fusion of cranial sutures. It is one of the most common congenital anomalies encountered by craniofacial surgeons, with a prevalence of one in every 2000-2500 births. It is classified into two main types: syndromic and nonsyndromic. In syndromic, the patient presents with other abnormalities involving the trunk, face, or extremities. While in nonsyndromic the only anomy is the premature fusion, which usually involves one suture; the most common subtypes are unicoronal, sagittal, bicoronal, metopic, and lambdoid. As a consequence, premature fusion before its natural time restricts the space for the brain to grow, increases intracranial pressure, causes damage to the brain tissue, and affects the development of the child. This review comprehensively provides a detailed overview of nonsyndromic craniosynostosis and aims to highlight the importance of early and accurate diagnosis, and determining the most suitable intervention, whether surgical or conservative modalities. The optimal treatment approach produces the most favorable aesthetic and functional outcomes.

Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population-based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends. We collected the data from nationwide registers maintained by the Finnish Institute for Health and Welfare and Statistics Finland, as well as treating hospitals, encompassing live births, stillbirths, terminations for fetal anomalies, and infant deaths with suspected or diagnosed craniosynostosis or skull deformation. A craniofacial surgeon and a clinical geneticist reviewed 1878 medical records for diagnostic confirmation. Out of 877 craniosynostosis cases, 83% were single-suture synostoses (all live births), 10% craniosynostosis syndromes, and 7% multisutural non-syndromic synostoses. Live birth prevalence from 1987 to 2010 was 6.0/10,000 live births, ranging from 5.0/10,000 in 1987 to 7.5/10,000 in 2010. Total prevalence, including live births, stillbirths, and terminations, varied from 5.0/10,000 in 1987 to 8.0/10,000 in 2010. Sagittal synostosis was the most common synostosis, with a prevalence of 3.9/10,000 live births, followed by metopic (0.6/10,000), unicoronal (0.4/10,000), and unilambdoid (0.1/10,000) synostoses. The total combined prevalence of all craniosynostosis types significantly increased driven by a nonsignificant rise across all subgroups and a significant increase in the syndrome group. In live births increase was significant only within the syndrome subgroup, primarily due to an increase in Muenke syndrome patients. The rising prevalence of syndromes necessitates further investigation. Contrasting with trends in Europe, Australia, and the USA, Finland showed no significant increase in metopic craniosynostosis.

To evaluate the refractive outcome and strabismus at 5 years of age, in children operated for various types of non-syndromic craniosynostosis, and further analyse the refractive and strabismic development over time. Eighty-nine children, who had undergone operations for non-syndromic craniosynostosis, were examined at 5 years of age. These children also underwent ophthalmological examination preoperatively and up to 1 year after the operation. An age-matched control group including 32 healthy children was also recruited. Strabismus and eye motility were registered. Refraction was measured in cycloplegia. There was a difference regarding the refractive outcome between the different types of craniosynostosis. Higher values of hypermetropia were found in the metopic craniosynostosis group on both eyes. In the unicoronal craniosynostosis group, high values of hypermetropia and a higher degree of astigmatism were found on the side contralateral to the craniosynostosis. Strabismus was found in 11/88 children of whom 10/11 had unicoronal craniosynostosis. A vertical deviation on the side ipsilateral to the fused suture was highly prevalent (6/10 cases). Ophthalmological dysfunctions were rare in children operated for sagittal craniosynostosis. Ocular manifestations such as strabismus, astigmatism and anisometropia were highly prevalent in children operated for unilateral coronal craniosynostosis. Children operated for metopic craniosynostosis had higher rates of hypermetropia. The screening and follow-up protocols need to be tailored with regard to the type of craniosynostosis.