Eye and Orbital Anatomy in Metopic Synostosis

Background: Metopic synostosis patients have a high prevalence of orthoptic anomalies, including hyperopia, astigmatism, and amblyopia. We hypothesized altered orbital anatomy contributes to suboptimal visual outcomes by adversely affecting eye anatomy and growth from early life onward. Therefore, we aimed to investigate eye and orbital anatomy in metopic synostosis. Methods: We conducted a retrospective study in nonsyndromic metopic synostosis patients (n = 134, median age 0.43 years [IQR 0.45]) with nonsyndromic sagittal synostosis patients (n = 134, median age 0.27 years [IQR 0.23]) as controls. Primary analyses focused on eye dimensions (axial length, width, and globe height) and orbital dimensions, correcting for sex and age. Measurements were obtained from preoperative computed tomography scans. Results: Axial length and width in metopic synostosis patients did not differ from sagittal synostosis patients, but globe height was significantly smaller (P = 0.0002). Lateral wall interorbital length, lateral orbital wall length, anterior medial interorbital length, and maximal medial interorbital length were significantly smaller, and anterior vertical orbital height and maximal vertical orbital height were significantly larger (P &lt; 0.001). The central orbital axis and interorbital angle were significantly narrower, and medial-to-lateral orbital wall angle was wider (P &lt; 0.001). Conclusions: Metopic synostosis patients have more shallow, wider, and higher orbits. Eye dimensions are similar in sagittal synostosis patients, although globe height was smaller. Altered orbital and eye dimensions in metopic synostosis probably have a causal relation with an unknown order of development. How these dimensions relate to future orthoptic anomalies (eg, refractive error) needs further investigation.</p

Child-Patient Perspective on Results after Correction of Sagittal Synostosis and the Difference between Child-Patient and Parent's Perspectives

Objective: This study assesses the level of child-patient satisfaction with the surgical result after scaphocephaly correction and the difference between child-patient and parents' perspectives. Methods: A questionnaire was sent out to children between 6 and 18 years old with isolated sagittal synostosis, who had undergone either a frontobiparietal remodeling or extended strip craniotomy, and separately to their parents. Results: The questionnaire was completed by 96 patients, 81.2% of the patients considered their head to be similar or slightly different from others. Despite the majority being satisfied with the outcome, 33% would change the shape of their head if they could. Patients who underwent extended strip craniotomy wanted to change the back of their head more often (P = 0.002), whereas patients who underwent frontobiparietal remodeling wanted to change their forehead (P = 0.005). The patients' own perspective on head shape was independent of the cephalic index (CI). However, patients with a relatively narrow CI received more remarks from others about their heads (P = 0.038). Parent and child agreement was 49.7% on average. Differences between child-patients and parents were found in reporting adaptive behavior. Conclusion: The majority of patients were satisfied with the outcome of their intervention. The child's perspective seems to be a valuable addition to evaluate sagittal synostosis surgery as it is independent of the CI and differentiates between different surgical techniques. In addition, the patient's perspective is comparable to the parent's perspective, but gives more details on adaptive behavior.</p

Child-Patient Perspective on Results after Correction of Sagittal Synostosis and the Difference between Child-Patient and Parent's Perspectives

Objective: This study assesses the level of child-patient satisfaction with the surgical result after scaphocephaly correction and the difference between child-patient and parents' perspectives. Methods: A questionnaire was sent out to children between 6 and 18 years old with isolated sagittal synostosis, who had undergone either a frontobiparietal remodeling or extended strip craniotomy, and separately to their parents. Results: The questionnaire was completed by 96 patients, 81.2% of the patients considered their head to be similar or slightly different from others. Despite the majority being satisfied with the outcome, 33% would change the shape of their head if they could. Patients who underwent extended strip craniotomy wanted to change the back of their head more often (P = 0.002), whereas patients who underwent frontobiparietal remodeling wanted to change their forehead (P = 0.005). The patients' own perspective on head shape was independent of the cephalic index (CI). However, patients with a relatively narrow CI received more remarks from others about their heads (P = 0.038). Parent and child agreement was 49.7% on average. Differences between child-patients and parents were found in reporting adaptive behavior. Conclusion: The majority of patients were satisfied with the outcome of their intervention. The child's perspective seems to be a valuable addition to evaluate sagittal synostosis surgery as it is independent of the CI and differentiates between different surgical techniques. In addition, the patient's perspective is comparable to the parent's perspective, but gives more details on adaptive behavior.</p

Health-related Quality of Life in Children and Adolescents with Sagittal Synostosis

Background: This study evaluated the health-related quality of life (HR-QoL) in patients with sagittal synostosis (SS), and the influence of frequent headaches and surgical techniques on the HR-QoL. Method: Patients with SS aged 8 to 18 years were invited to participate between June 2016 and February 2017. The Child Health Questionnaire was used to assess the HR-QoL. A detailed questionnaire was used to assess the severity of headache symptoms. The control group consisted of 353 school children aged 5 to 14 years. Results: In all, 95 parents of patients with SS were invited to participate, of whom 68 (71.6%) parents completed the CHQ-PF50. The mean age of the participating patients was 12.4 years (10.8 to 14.2). The Psychosocial-and Physical summary of the patients with SS was similar to the general population. In the distinct CHQ scales, "Family cohesion" (P=0.02) was higher, and "Mental health" (P=0.05) was lower compared with the general population. The type and timing of surgery did not affect the HR-QoL. Thirty-two patients (47.1%) reported having headache complaints at least once a month. The CHQ scores of SS patients with frequent headaches had a significantly lower score of mild to large effect than those without headaches. Conclusion: Patients with SS have a slightly lower to similar HR-QoL compared with the general population. In all, 47.1% of SS patients have frequent headaches, resulting in lower average HR-QoL. The type and timing of surgery did not affect the results. Clinicians should be aware of lower HR-QoL in some subgroups of patients with SS.</p

Management and outcomes of obstructive sleep apnea in children with Robin sequence, a cross-sectional study

Objective: The objective of this cross-sectional study is to assess the prevalence, course, and management of obstructive sleep apnea (OSA) in children with Robin sequence (RS) aged 1–18 years. Materials and methods: A cross-sectional study was conducted in 63 children aged 1 to18 years with RS. Patient data were collected on baseline characteristics and management. OSA was evaluated by polysomnography. Results: Sixty-three children with RS were included (median age 8.0 years) and divided into two groups based on the initial treatment: prone positioning or respiratory support. Respiratory support was more often indicated in children with a non-isolated RS (p < 0.05). At cross section, in the prone positioning group (n = 32), one child was diagnosed with OSA. In the respiratory support group (n = 31), 13 children (42 %) had respiratory problems of whom 10 needed respiratory support. Conclusions: Between the age of 1 and 18 years, almost one out of four children with RS still has respiratory problems. Children with RS, who can be treated with prone positioning only as an infant, are not likely to develop obstructive airway problems at a later age. In contrast, children who need respiratory support early after birth are at risk of continuing or re-developing OSA after the age of 1 year. Clinical relevance: This study shows that those who need respiratory support at an early age need careful monitoring until adulthood

Quantitative detection and follow-up of intracranial hypertension in craniosynostosis:an optical coherence tomography study

BACKGROUND/PURPOSE: To evaluate in craniosynostosis: 1) the diagnostic accuracy of fundoscopy and optical coherence tomography (OCT) to detect intracranial hypertension (ICH); 2) the time course of retinal thickness after treatment of ICH; and 3) the relation between high hyperopia (HH) and fundoscopy/OCT scan findings.METHODS: Syndromic, multisuture, unicoronal, unilambdoid and sagittal synostosis patients visiting our national center were included in this longitudinal cohort study and formed a consecutive series. Retinal layers on OCT, OCT fundus image and fundoscopy were evaluated. ICH was scored according to presence of abnormal intracranial pressures, hydrocephalus, progressive cerebellar tonsillar herniation or fingerprinting and growth arrest. Diagnostic accuracy of OCT, fundoscopy and fundus image, the time course of retinal thickness after ICH and interference of HH were analyzed using linear mixed models.RESULTS: 577 OCT scans in 307 patients were included. ICH was found in 7.2%. Combining total retinal thickness (TRT), OCT fundus image and fundoscopy resulted in a sensitivity of 76% and 81% specificity to detect signs of ICH. TRT was increased in patients who have had signs of ICH versus patients who never had signs of ICH (β+44.9 µm in patients who have had ICH, 95%CI 9.0-80.8,P=0.01). TRT decreased to normal in the years after surgery (β -3.6 µm/year, 95%CI -7.2 - -0.05, P=0.047). There were greater odds of having increased TRT in patients with HH (OR 2.9, 95%CI 1.1-7.6,P=0.03).CONCLUSIONS: The correlation between TRT, OCT fundus image, fundoscopy and particularly for the combination of these parameters with ICP surrogate markers is fair. Increased TRT in the presence of a clinical suspicion of ICH warrants further screening.</p

Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study

Objective: To reflect upon our non-surgical respiratory management by evaluating clinical outcomes regarding airway, feeding, and growth during the first year of life in patients with Robin Sequence. Design: Prospective study. Setting: Sophia Children's Hospital, Rotterdam, the Netherlands. Patients/ Participants: 36 patients with Robin Sequence who were treated between 2011 and 2021. Interventions: Positional therapy and respiratory support. Main Outcome Measure(s): Data on respiratory outcomes included polysomnography characteristics and capillary blood gas values. Feeding outcomes were based on the requirement of additional tube feeding. Outcomes on growth were expressed as standard-deviation-scores (SDS) for weight-for-age (WFA) and height-for-age (HFA). Results: Twenty patients were treated with positional therapy (PT), whilst the other 16 patients required respiratory support. Twenty-two patients presented with non-isolated Robin Sequence (RS). During the first year of life, obstructive apnea hypopnea index decreased, oxygen levels enhanced, and capillary blood gas values improved. Eighty-six percent (31/36) experienced feeding difficulties, which completely resolved in 71% (22/31) during their first year of life. From start treatment, to stop treatment, to the age of 1 year, the SDS WFA worsened from −0.40 to −0.33 to −1.03, respectively. Conclusions: Non-surgical respiratory treatment resulted in an improvement of respiratory outcomes to near normal during the first year of life in patients with RS. These patients often experience feeding difficulties and endure impaired weight gain up to 1 year of age, despite near normalization of breathing. The high prevalence of feeding difficulties and impaired weight for age indicate the urgency for early recognition and adequate treatment to support optimal growth.</p

Cerebral cortex maldevelopment in syndromic craniosynostosis

AIM: To assess the relationship of surface area of the cerebral cortex to intracranial volume (ICV) in syndromic craniosynostosis. METHOD: Records of 140 patients (64 males, 76 females; mean age 8y 6mo [SD 5y 6mo], range 1y 2mo–24y 2mo) with syndromic craniosynostosis were reviewed to include clinical and imaging data. Two hundred and three total magnetic resonance imaging (MRI) scans were evaluated in this study (148 patients with fibroblast growth factor receptor [FGFR], 19 patients with TWIST1, and 36 controls). MRIs were processed via FreeSurfer pipeline to determine total ICV and cortical surface area (CSA). Scaling coefficients were calculated from log‐transformed data via mixed regression to account for multiple measurements, sex, syndrome, and age. Educational outcomes were reported by syndrome. RESULTS: Mean ICV was greater in patients with FGFR (1519cm(3), SD 269cm(3), p=0.016) than in patients with TWIST1 (1304cm(3), SD 145cm(3)) or controls (1405cm(3), SD 158cm(3)). CSA was related to ICV by a scaling law with an exponent of 0.68 (95% confidence interval [CI] 0.61–0.76) in patients with FGFR compared to 0.81 (95% CI 0.50–1.12) in patients with TWIST1 and 0.77 (95% CI 0.61–0.93) in controls. Lobar analysis revealed reduced scaling in the parietal (0.50, 95% CI 0.42–0.59) and occipital (0.67, 95% CI 0.54–0.80) lobes of patients with FGFR compared with controls. Modified learning environments were needed more often in patients with FGFR. INTERPRETATION: Despite adequate ICV in FGFR‐mediated craniosynostosis, CSA development is reduced, indicating maldevelopment, particularly in parietal and occipital lobes. Modified education is also more common in patients with FGFR