Prevalence of craniosynostosis in Finland, 1987-2010: A population-based study.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Are Patients with Syndromic Craniosynostosis at Greater Risk for Epilepsy than Patients with Nonsyndromic Craniosynostosis?

OBJECTIVE: The aim of this study was to determine whether patients with syndromic craniosynostosis (SCS) are at increased risk for epilepsy relative to patients with nonsyndromic craniosynostosis (NSCS). METHODS: A retrospective cohort study was completed using the Kids' Inpatient Database (KID). All patients diagnosed with craniosynostosis (CS) were included. The primary predictor variable was study grouping (SCS vs. NSCS). The primary outcome variable was a diagnosis of epilepsy. Descriptive statistics, univariate analyses and multivariate logistic regression were performed to identify independent risk factors for epilepsy. RESULTS: The final study sample included a total of 10,089 patients (mean age, 1.78 years ± 3.70; 37.7% female). 9278 patients (92.0%) had NSCS, and the remaining 811 patients (8.0%) had SCS. A total of 577 patients (5.7%) had epilepsy. Not controlling for other variables, patients with SCS were at increased risk for epilepsy relative to patients with NSCS (OR 2.1, P < 0.001). After controlling for all significant variables, patients with SCS were no longer at increased risk for epilepsy relative to patients with NSCS (OR 0.73, P = 0.063). Hydrocephalus, Chiari malformation (CM), obstructive sleep apnea (OSA), atrial septal defect (ASD), gastro-esophageal reflux disease (GERD) were all independent risk factors (P < 0.05) for epilepsy. CONCLUSIONS: Syndromic craniosynostosis (SCS) in itself is not a risk factor for epilepsy relative to NSCS. The greater prevalence of hydrocephalus, CM, OSA, ASD, and GERD, all of which were risk factors for epilepsy, in patients with SCS relative to patients with NSCS likely explains the greater prevalence of epilepsy in SCS relative to NSCS.

Incidence of Airway Abnormalities in Children With Craniosynostosis.

INTRODUCTION: Children with syndromic craniosynostosis are known to have a high propensity for associated airway abnormalities. However, this has not been investigated using a large-scale national database. METHODS: For this retrospective cohort study, the 2016 Healthcare Cost and Utilization Project Kid's Inpatient Database was queried for craniosynostosis patients. Data on demographics, airway diagnoses, and comorbidities were analyzed. RESULTS: Four thousand nine hundred fourteen children with craniosynostosis with a mean age of 1.7±3.6 years were identified. Of these, 51% were female and 136 children had an associated syndrome. Choanal atresia was present in 31% of patients with an associated syndrome versus 2.5% without. Syndromic patients are 4.59 times more likely (95% CI 2.65-7.94) to have airway anomalies than nonsyndromic patients. After age and sex adjustment, craniosynostosis patients have higher likelihoods of presenting with other anomalies, with syndromic having higher incidences: 5.23 times (95% CI 2.63-10.39) more likely to have laryngomalacia, 18.30 times (95% CI 3.27-102.36) more likely to have tracheal stenosis, and 4.58 times (95% CI 1.36- 15.43) more likely to have tracheomalacia. Incidence of tracheostomy was 5.84 times (95% CI 3.77-9.04) higher in syndromic patients with craniosynostosis. Tracheostomy rates were 28.4% and 4.6% in craniosynostosis patients with and without associated syndrome, respectively. CONCLUSION: Syndromic craniosynostosis patients had significantly higher incidences of choanal atresia and other airway anomalies. Given a high incidence of airway anomalies, syndromic craniosynostosis patients likely warrant routine airway evaluation. Providers should also be vigilant about airway evaluation in patients with nonsyndromic craniosynostosis when aerodigestive symptoms arise.

Incidence of Ventriculomegaly in Patients With Craniosynostosis.

Hydrocephalus is variously associated with syndromic craniosynostosis (CS), while it is randomly encountered in nonsyndromic CS. But actually, the ventriculomegaly in CS is less described. In this study, the authors aim to establish whether ventriculomegaly is common in patients with CS, in both syndromic and nonsyndromic. Retrospective measurements of Evans index (EI) were taken from thin-section computed tomography scans of 169 preoperative CS patients to assess cerebral ventricular volume. EI >0.3 indicates ventricular enlargement. A total of 169 CS patients who underwent computed tomography scan from February 2018 to December 2021 were retrospectively evaluated, including 114 males and 55 females. The average age at diagnosis was 16 months (range: 1-103 mo). Among them, 37 with syndromic CS, including 17 ventricular megaly patients, had an EI >0.3 (46.0%), and 4 of them had intracranial hypertension and needed ventriculoperitoneal shunt treatment before cranial vault remolding. One hundred and thirty-two had nonsyndromic CS (100 single-suture CS, 32 multisuture CS), and 26 of them had an EI of 0.3 or greater (19.7%). Ventrocular megaly is common among patients with CS. Early craniotomy may stabilize ventricular dilation.

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

Kabuki syndrome (KS) is characterized by growth impairment, psychomotor delay, congenital heart disease, and distinctive facial features. KMT2D and KDM6A have been identified as the causative genes of KS. Craniosynostosis (CS) has been reported in individuals with KS; however, its prevalence and clinical implications remain unclear. In this retrospective study, we investigated the occurrence of CS in individuals with genetically diagnosed KS and examined its clinical significance. Among 42 individuals with genetically diagnosed KS, 21 (50%) exhibited CS, with 10 individuals requiring cranioplasty. No significant differences were observed based on sex, causative gene, and molecular consequence among individuals with KS who exhibited CS. Both individuals who underwent evaluation with three-dimensional computed tomography (3DCT) and those who required surgery tended to exhibit cranial dysmorphology. Notably, in several individuals, CS was diagnosed before KS, suggesting that CS could be one of the clinical features by which clinicians can diagnose KS. This study highlights that CS is one of the noteworthy complications in KS, emphasizing the importance of monitoring cranial deformities in the health management of individuals with KS. The findings suggest that in individuals where CS is a concern, conducting 3DCT evaluations for CS and digital impressions are crucial.

The epidemiology of upper respiratory tract disorders in a population of insured Swedish dogs (2011-2014), and its association to brachycephaly.

Upper respiratory tract (URT) disorders are common in dogs but neither general nor breed-related epidemiological data are widely reported. This study´s aims were to describe the epidemiology of URT disorders in a Swedish population of dogs and to investigate whether brachycephalic breeds were overrepresented among high-risk breeds. A cohort of dogs insured by Agria Djurförsäkring in Sweden (2011-2014) was used to calculate overall and breed-specific incidence rate (IR), age at first URT diagnosis and relative risk (RR) for URT disorders. For breeds with high RR for URT disorders, co-morbidities throughout the dog's insurance period and age at death were investigated. The cohort included approximately 450,000 dogs. URT disorders had an overall IR of 50.56 (95% CI; 49.14-52.01) per 10,000 dog years at risk. Among 327 breeds, the English bulldog, Japanese chin, Pomeranian, Norwich terrier and pug had highest RR of URT disorders. Eight of 13 breeds with high RR for URT disorders were brachycephalic. The median age at first URT diagnosis was 6.00 years (interquartile range 2.59-9.78). French bulldogs with URT diagnoses had a significantly shorter life span (median = 3.61 years) than other breeds with URT diagnosis (median = 7.81 years). Dogs with high risk for URT disorders had more co-morbidities than average.

Epidemiology and clinical significance of canine distichiasis: A retrospective study of 291 cases.

OBJECTIVE: To describe the epidemiological factors and clinical significance of canine distichiasis. ANIMALS STUDIED: Two hundred and ninety-one client-owned dogs. METHODS: Retrospective study of medical records for canine patients diagnosed with distichiasis between 2010 and 2019 in an ophthalmology specialty practice. The breed, sex, skull conformation, coat type, age at the time of diagnosis, reason for presentation, clinical examination findings, and affected eyelid(s) were reviewed. RESULTS: The prevalence of distichiasis was 5.5% (95% confidence interval (CI): 4.9-6.1) in the population of dogs presented to an ophthalmology specialty practice. The breeds with the highest prevalence were English bulldogs (35.2%, 95% CI: 26.7-43.7) and American cocker spaniels (19.4%, 95% CI: 8.3-30.5). The prevalence was significantly higher in brachycephalic dogs (11.9%, 95% CI: 9.8-14.0) than in non-brachycephalic dogs (4.6%, 95% CI: 4.0-5.3) and in short-haired dogs (8.2%, 95% CI: 6.8-9.6) than in dogs with other coat types (5.3%, 95% CI: 4.5-6.1). Most dogs were affected bilaterally (63.6%, 95% CI: 58.0-69.1). Among dogs with clinical signs, 39.0% (95% CI: 26.5-51.4) exhibited corneal ulceration, including superficial ulcers (28.8%, 95% CI: 17.3-40.4) and deep stromal ulcers (10.2%, 95% CI: 2.5-17.8). Distichiasis was non-irritating in 85.0% (95% CI: 80.6-89.4) of affected dogs. CONCLUSION: This study reports the largest cohort of canine distichiasis to date. In a large proportion of dogs, distichiasis was a non-irritating condition. However, brachycephalic breeds, especially English bulldogs, were the most frequently and severely affected.

Positional Plagiocephaly and Craniosynostosis.

Along with the decrease in sudden infant death syndrome due to the successful "Back to Sleep" Campaign, there was a reciprocal increase in cases of positional plagiocephaly (PP). The prevalence of PP significantly rose from approximately 5% to upward of 46% at age 7 months. Consequently, clinicians have seen a surge in the number of patients presenting with head shape abnormalities. Not only does this increase in patient volume pose a logistical problem to clinics, but it also poses a potential risk to patients with craniosynostosis, whose head shape anomalies are similar to a "needle in a haystack" of patients with more common PP. This review explores the causes, risk factors, and treatment options of PP and craniosynostosis, along with the differential of head shape anomalies based on phenotypic presentation. In doing so, we hope to provide pediatric care clinicians with the tools necessary to effectively evaluate and manage patients with head shape abnormalities. [Pediatr Ann. 2023;52(1):e10-e17.].

Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study.

To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia.Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database.The outcome variables were hospital separation rates (HSR) (number of hospital separations divided by the estimated resident population [ERP] per year) and average length of stay (aLOS) (patient days divided by the number of hospital separations) with a diagnosis of CS. Trends in HSR and aLOS adjusted for age, sex, and type of CS were investigated by negative binomial regression presented as annual percent change (APC).In 8057 admissions identified, we observed no significant change in the annual trend for HSR for the 22-year period. However, a marginal annual decrease of 1.6% (95% CI: -0.7, -2.4) in the aLOS was identified for the same time period. HSR were higher for males, infants, and single suture synostosis. aLOS was 3.8 days (95% CI: 3.8, 3.9) per visit, longer for syndromic conditions.There was a minor reduction in the average length of hospital stay for CS over the 22-year period potentially indicative of improved care. Population-level information on hospitalisations for rare craniofacial conditions can inform research, clinical, and surgical practice.

Prevalence of incidental humeral intracondylar fissures in brachycephalic breed dogs in CT studies.

Humeral intracondylar fissures (HIF) have been predominantly reported in spaniel breeds and proposed to be possible risk factors for humeral condyle fractures (HCF). We hypothesized that the prevalence of incidental HIF in French Bulldogs may be greater than that of other brachycephalic breeds. A retrospective, observational, prevalence study was performed using CT examinations of French bulldogs and other brachycephalic breed dogs presenting for an unrelated condition. Two European College of Veterinary Diagnostic and Imaging-certified radiologists reviewed the images of the humeral condyles of these dogs. A classification system was devised to grade the findings. We considered a Score 1 to be normal, Score 2 to have centralised sclerosis, Score 3 to have a partial fissure and Score 4 to have a complete fissure. A total of 228 elbows were reviewed from 122 dogs. Of this population, 145 elbows were from French Bulldogs, 54 were from Pugs, and the remainder were from a mix of other brachycephalic breeds. The prevalence of HIF (score 3 or 4) in elbows of the French bulldog, pug and other breed groups was 6.9% (CI 2.8-11%), 5.6% (CI 0-11.7%), and 3.4% (CI 0-10.15%), respectively. At a dog level, the prevalence of HIF (score 3 or 4 present in at least one elbow) was found to be 11.8% (CI 4.6-19%) in French Bulldogs, 11.1% (CI 0-22.9%) in Pugs, and 5.26% (CI 0-15%) in the other breed group. There was no significant difference between the breed groups. The inter-reviewer reliability for CT scoring of HIF based on Cohen's weighted kappa was low at 0.19.

Sex Differences in Comorbidities of Pediatric Craniosynostosis at Presentation.

INTRODUCTION: Craniosynostosis is a common pediatric presentation in which the premature fusion of one or more cranial sutures results in a misshapen skull. This birth defect is often associated with comorbidities due to structural impacts on nearby anatomical features. While there is some evidence for a male predominance among craniosynostosis patients, little has been investigated regarding sex differences in comorbidities of this condition. This study seeks to explore potential sexual dimorphisms in craniosynostosis patients at the time of presentation. METHODS: We conducted a retrospective, cross-sectional review of male and female non-syndromic craniosynostosis (NSC) patients between the ages of 1 month and 9 years that were evaluated at a 500-bed academic hospital or a 977-bed private hospital in Lubbock, TX, USA. Common comorbidities including ophthalmologic diagnoses, developmental delays, obstructive sleep apnea, chronic otitis media, hearing loss, chronic headaches, and seizure disorders were evaluated. The NSC cohort was compared to a similarly aged trauma group that represented the normal population. RESULTS: 175 NSC patients fit the inclusion criteria, of which 109 (62%) were male. A diagnosis of craniosynostosis was significantly associated with ophthalmological diagnoses (p < 0.0001), chronic otitis media (p < 0.0001), developmental delays (p < 0.0001), and hearing loss (p = 0.0047). Male NSC patients were less likely to present with ophthalmological diagnoses (p = 0.0010) or hearing loss (p = 0.0052) than females. CONCLUSIONS: Our findings expand on current literature evaluating possible comorbidities of NSC, particularly supporting the association with ophthalmological diagnoses, chronic otitis media, developmental delays, and hearing loss. We also report sex differences in ophthalmological diagnoses and hearing loss for NSC patients. These findings can serve to educate physicians of symptoms requiring prompt recognition and management in these patients.

Correlation Between Demographic Variables and Complications in Nonsyndromic Craniosynostosis.

PURPOSE: This retrospective cross-sectional, observational study aims to determine the correlation between demographic variables and nonsyndromic craniosynostosis. METHODS: A cross-sectional study was carried out. The inclusion criteria were nonsyndromic craniosynostosis and the exclusion criteria were patients who did not have complete records. RESULTS: The sample included 49 patients and mainly women. Patients with more than 4 days in the intensive care unit were related with more complications. Intracranial Hypertension was seen predominantly in patients between 6 and 8 months P =0007. CONCLUSION: Some variables can modificate complications risk but future studies are needed to further investigate the influence of such variables on craniofacial care.

Prevalence and characterization of middle ear effusion in 55†brachycephalic dogs.

OBJECTIVE: Multiple, breeding-related malformations of the skull of brachycephalic dogs are well-known. Whereas the eye-catching deformities of the nose that lead to dramatic respiratory problems are obvious, changes of the middle ear are often an incidental finding on CT examinations and usually clinically inapparent. The objectives of this work were to investigate the prevalence and characteristics of middle ear effusion in brachycephalic dog breeds presented for multilevel surgery of upper airway obstructions. MATERIAL AND METHODS: Brachycephalic dogs with incidental middle ear effusion detected on CT scans obtained prior to surgical treatment of brachycephalic airway syndrome were prospectively enrolled. A perendoscopic tympanocentesis followed by macroscopic description, microscopic cytology and bacteriological analysis of the fluid was performed. RESULTS: Prevalence of middle ear effusion in all dogs presented to the department during the study period was 55/170 (32 %) in 86 middle ears. The only breeds suffering from MEE were French Bulldogs (FB) with a prevalence of 35/66 (53 %) and Pugs with a prevalence of 20/79 (25 %). Tympanocentesis was performed in 80 ears. In the majority of cases the effusion was either mucoid or serous, with a honey-like or ochre colour.Bacteriology was available for 76 ears and tested positive in 34 (45 %) cases. Cytology was performed in 73 ears and revealed all effusions to contain inflammatory cells with a high concentration in 23 (31.5 %) cases. CONCLUSIONS AND CLINICAL RELEVANCE: Brachycephalic dogs presented for surgical treatment of brachycephalic airway syndrome have a high prevalence of incidental middle ear effusions. Cytological findings differ from previously reported analyses of effusions in Cavalier King Charles spaniels with clinical symptoms of primary secretory otitis media, where usually cell-free effusions are found. A study comparing effusions of brachycephalic dogs with vestibular disease to those found as an incidental condition is warranted.

ERN CRANIO patient coverage of craniosynostosis in Europe.

BACKGROUND: Against the backdrop of the European Directive on patients' rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are networks of specialised hospitals working together to support patients with rare and/or complex diseases. ERN CRANIO is the ERN for craniofacial anomalies and ear, nose and throat disorders. The aim of this study was to explore ERN CRANIO's patient coverage of craniosynostosis. METHODS: ERN CRANIO members and applicants were asked to retrospectively report the number of 'new craniosynostosis patients' (isolated and syndromic) seen in 2017. The number of live births per country in 2017 was retrieved from EUROSTAT, the EU's statistical office. The number of new patients reported per country and the number of live births were used to generate country-specific prevalence figures per 10,000 live births. These figures were compared to expected prevalence ranges for craniosynostosis, and syndromic craniosynostosis specifically, defined by recent European studies. The percentage of syndromic craniosynostosis cases per country was also compared to the expected percentage range. RESULTS: Based on previous studies, the expected prevalence ranges for craniosynostosis and syndromic craniosynostosis specifically were respectively defined as 4.4-7.2 and 0.9-1.6 patients/10,000 live births. For craniosynostosis ('total'; isolated + syndromic), 'new patient' data from the UK and Finland generated prevalence figures within the expected range, and those in France, Spain, Italy, Portugal and Germany are lower than expected. However, when including applicant data, the prevalence figures for France, Spain and Italy become in range. Data from the Netherlands and Sweden generated higher prevalence figures than expected. For France, Finland, Italy and Sweden, there is inconsistency between patient coverage of 'total' and syndromic patients. For France, Germany, Finland and Italy, the percentage of syndromic craniosynostosis was lower than the expected range. CONCLUSION: ERN CRANIO's coverage of craniosynostosis varies across Europe. Results may be explained by data collection methods, genetic testing policies and/or national healthcare systems. With centre caseload a driving force for quality, additional ERN membership calls may not necessarily ensure sufficient patient coverage for countries with decentralised healthcare systems. Liaison with national health ministries should be encouraged to optimise patient coverage.

Epidemiology, Genetics, and Pathophysiology of Craniosynostosis.

Craniosynostosis, the premature fusion of the infant cranial skulls, can be recognized by characteristic head shape differences that worsen with head growth. Craniosynostosis can be syndromic or nonsyndromic and can involve one suture or multiple sutures. Timely cranial vault surgery is recommended to expand and reshape the skull, with a goal of preventing increased intracranial pressure and providing sufficient space for brain growth. Several gene variants and environmental exposures are known to increase the risk of single suture craniosynostosis (SSC), including in utero constraint, exposure to specific toxins and medications, and medical conditions such as thyroid dysregulation and metabolic bone disorders.

Prevalence of bronchial wall thickening and collapse in brachycephalic dogs with and without brachycephalic obstructive airway syndrome and in nonbrachycephalic dogs.

OBJECTIVE: To assess the prevalence of bronchial wall thickening (BWT) and collapse in brachycephalic dogs with and without brachycephalic obstructive airway syndrome (BOAS) and in nonbrachycephalic dogs. ANIMALS: 85 dogs with no history of lower respiratory tract disease that underwent CT of the thorax. PROCEDURES: Electronical medical records for March 2011 through August 2019 were reviewed to identify brachycephalic dogs with BOAS (BOAS group) and brachycephalic dogs without BOAS (BDWB group) that did not have any evidence of lower respiratory tract disease and had undergone thoracic CT. A population of nonbrachycephalic dogs of similar weight (control dogs) was also retrospectively recruited. RESULTS: BWT was identified in 28 of 30 (93.3%; 95% CI, 80.3% to 98.6%) dogs in the BOAS group, 15 of 26 (57.7%; 95% CI, 38.7% to 75.0%) dogs in the BDWB group, and 10 of 28 (35.7%; 95% CI, 20.1% to 54.2%) control dogs. On multivariable analysis, only brachycephalic conformation (P < 0.01) and body weight (P = 0.02) were significantly associated with the presence of BWT. Bronchial collapse was identified in 17 of 30 (56.7%; 95% CI, 39.0% to 73.1%) dogs in the BOAS group, 17 of 26 (65.4%; 95% CI, 46.3% to 81.3%) dogs in the BDWB group, and 3 of 28 (10.7%; 95% CI, 3.1% to 25.9%) control dogs. On multivariable analysis, only brachycephalic conformation was significantly (P < 0.01) associated with the presence of bronchial collapse. CLINICAL RELEVANCE: A relationship between brachycephalic conformation and body weight with BWT was established, with heavier dogs having thicker bronchial walls. However, further studies are required to investigate the cause. Bronchial collapse was also more common in dogs with brachycephalic conformation, which is in agreement with the previously published literature.

Normocephalic sagittal craniosynostosis in young children is common and unrecognized.

OBJECTIVE: Sagittal craniosynostosis (SC) is usually diagnosed during early childhood by the presence of scaphocephaly. Recently, our group found 3.3% of children under 5 years of age with normocephalic sagittal craniosynostosis (NSC) using computed tomography (CT) scans. This paper aims to validate our preliminary findings using a larger cohort of patients, and analyze factors associated with incidental NSC. METHODS: A retrospective review of head CT scans in patients aged 0 to 71 months who presented to the emergency department of our tertiary care institution between 2008 and 2020 was completed. Patients with syndromes associated with craniosynostosis (CS), history of hydrocephalus, or other brain/cranial abnormalities were excluded. Two craniofacial surgeons reviewed the CT scans to evaluate the presence and extent of CS. Demographic information, gestational age, past medical and family history, medications, and chief complaint were recorded as covariates, and differences between patients with and without CS were analyzed. Furthermore, comparison of the prevalence of CS across age groups was studied. Additional analysis exploring association between independent covariates and the presence of CS was performed in two sub-cohorts: patients ≤ 24 months of age and patients > 24 months of age. RESULTS: A total of 870 scans were reviewed. SC was observed in 41 patients (4.71% - 25 complete, 16 incomplete), all with a normal cranial index (width/length > 0.7). The prevalence of SC increased up to 36 months of age, then plateaued through 72 months of age. Patients under 2 years of age with family history of neurodevelopmental disease had 49.32 (95% CI [4.28, 567.2]) times higher odds of developing CS. Sub-cohort of patients above 24 months of age showed no variable independently predicted developing CS. CONCLUSION: NSC in young children is common. While the impact of this condition is unknown, the correlation with family history of neurodevelopmental disease is concerning.

Incidence of alimentary and respiratory disease in brachycephalic dogs presenting to primary care veterinary practices participating in the SAVSNET project.

BACKGROUND: Brachycephalic dogs clinically affected by brachycephalic obstructive airway syndrome have been shown to have a high incidence of gastrointestinal disease, with French Bulldogs (FBD) identified as a particularly affected breed. METHODS: Clinical records of 750 brachycephalic dogs attending over 500 practices participating in the small animal veterinary surveillance network (SAVSNET) project were analysed in this cohort study to determine the incidence of alimentary and respiratory disease within FBD, Bulldogs (BD) and Pugs attending primary care veterinary practice. Electronic clinical records were studied for treatment or acknowledgement of specific clinical signs that could be attributed to different anatomical locations. Disease of the different anatomical locations was marked as either being present or not present which allowed for statistical analysis. RESULTS: Significant differences in the incidence of oesophageal (p = 0.006), gastric (p = 0.001) and intestinal (p = 0.001) diseases were present among the breeds studied. FBD had significantly increased odds ratios of having oesophageal (2.0, 2.2), gastric (2.4, 1.5) and intestinal (1.7, 1.5) diseases relative to Pugs and BD, respectively. Pugs had significantly increased odds ratios of having upper respiratory tract disease relative to BD (1.9). CONCLUSION: The results show the incidence of gastrointestinal disease and upper respiratory tract disease is significantly different between the brachycephalic breeds studied. Furthermore, the general population of FBD has the highest incidence of gastrointestinal disease.

Global Epidemiology of Craniosynostosis: A Systematic Review and Meta-Analysis.

OBJECTIVE: Craniosynostosis leads to craniofacial deformity and may result in raised intracranial pressure, neurocognitive deficits, and psychosocial issues if left untreated. The global epidemiology of craniosynostosis is unknown. We conducted a meta-analysis to estimate global birth prevalence. METHODS: PubMed, Embase, and Scopus were searched. Articles were screened by title and abstract and then full text. Meta-analysis of birth prevalence was conducted. Birth prevalence figures were combined with metrics detailing the number of births in 2019 to estimate the number of children worldwide born with craniosynostosis annually. RESULTS: Of 1378 resultant articles, 24 studies were included, including 20 providing data for craniosynostosis overall and 9 for nonsyndromic craniosynostosis. World Health Organization regions of included studies were 9 (37.5%) European Region, 8 (33.3%) Region of the Americas, 4 (16.7%) Western Pacific region, 2 (8.3%) African Region, and 1 (4.2%) Eastern Mediterranean Region. Lower middle-income countries represented only 4% of study manuscripts. The overall birth prevalence of craniosynostosis was 5.9 per 10,000 live births (20 studies; 95% confidence interval [CI]: 3.9, 8.4; I2 = 100%). The birth prevalence of nonsyndromic craniosynostosis was 5.2 per 10,000 live births (9 studies; 95% CI: 3.4, 7.3; I2 = 98%). The number of children born globally with craniosynostosis in 2019 was estimated to be 84,665 (95% CI: 55,965, 120,540), including 72,857 (95% CI: 47,637, 120,280) with nonsyndromic craniosynostosis. CONCLUSIONS: Craniosynostosis is a common condition that affects the neurocognitive and craniofacial skeletal development of children worldwide. Initiatives to scale up capacity for craniosynostosis epidemiologic research and clinical care are warranted, particularly in low- and middle-income countries.

Long-term ophthalmological outcomes in patients with anterior plagiocephaly managed with a fronto-orbital advancement procedure.

BACKGROUND: Anterior plagiocephaly results from early fusion of a unilateral coronal cranial suture, which affects 1/10,000 infants at birth and can be associated with ophthalmological complications. The study aimed to evaluate the frequency of oculomotor disorders and refractive errors in children with non-syndromic anterior plagiocephaly. METHODS: Patients with anterior plagiocephaly undergoing surgery using a fronto-orbital advancement technique were included in this retrospective study between 2011 and 2017. The following data were collected: cycloplegic refraction in diopters (D), best-corrected visual acuity, manifest strabismus in primary position, ocular motility, head tilt in primary position, slit-lamp and fundus examination. The refractive errors were determined by autorefraction after cycloplegia with cyclopentolate. RESULTS: Among the sixteen patients included, hyperopia >2.5D was found in 10 patients, astigmatism >1D in 10 patients and anisometropia >1D in 7 patients. Astigmatism was contralateral to the synostosis in 7 cases. In total, significant refractive errors were found in 92.9%. Amblyopia was found in 33.3% patients. Strabismus was found in 11 patients, most frequently combined horizontal and vertical, of which 4 required strabismus surgery. The most frequent vertical deviation was ipsilateral hypertropia in 54.5%. We found superior oblique muscle limitation in 3 patients. Optic disc pallor was found in 2 patients. CONCLUSION: In the years following fronto-orbital advancement for non-syndromic anterior plagiocephaly, refractive errors and oculomotor disorders are frequently encountered, mainly contralateral astigmatism and strabismus with both horizontal deviation and ispilateral hypertropia.