Obstructive Sleep Apnea in Children with Syndromic Craniosynostosis

In the Netherlands between 179.000 and 204.000 children were born annually during the last ten years. Congenital anomalies occur in 1 in 33 births. Th e most frequent anomaly involves the heart with a prevalence of 1 in 150 births (66.7 per 10.000 births). Th e ventricular septal defects occur the most frequent (30.0 per 10.000 births) (Central Bureau of Statistics Netherlands, European Registration of Congenital Anomalies, National Neonatology Registration). A rare congenital anomaly is craniosynostosis, affecting 1 in 2.500 births. Th e newborns cranial vault is composed of seven individual bones separated by sutures. Th is arrangement accommodates transient skull distortion during birth and permits future growth of the brain, the volume of which quadruples during the fi rst two years of life. Th ere are six major cranial sutures: the metopic, two coronal, the sagittal, and two lambdoid sutures. Six additional sutures are considered minor: two frontonasal, two temporosquamosal, and two frontosphenoidal. At the anterior of the skull, the sagittal, coronal, and metopic sutures meet to form the anterior fontanelle. Th e posterior fontanelle is formed by the intersection of the sagittal and lambdoid sutures. The sutures function as growth centres. In the center of a suture lie undiff erentiated, proliferating cells. A part of these cells undergo osteogenic diff erentiation and migrate to the borders of the bone sheets. After diff erentiation in osteoblasts growth of the sheets occurs by apposition. At two months of age, the posterior fontanelle closes, followed by anterior fontanelle closure at approximately two years of age. While the metopic suture typically closes within the fi rst year of age, all remaining cranial sutures close in adulthood, although they are no longer involved in skull growth after approximately the age of six. Th en skull growth takes place by apposition of bone at the outer side of the skull and resorption at the inner side

Health-related problems and quality of life in patients with syndromic and complex craniosynostosis

Purpose: We conducted this study to gauge the health-related problems, quality of life and the performance of the Health Utility Index Mark 3 (HUI-3) in patients with syndromic and complex craniosynostosis. Patients with syndromic and complex craniosynostosis have various physical and mental problems. More insight on these problems, per syndrome, could provide guidance to improve patient treatment and follow-up. Methods: A cross-sectional, comparative study on 131 patients and their parents was performed. Health-related quality of life was measured with the HUI-3 and the Visual Analogue Scale (VAS). All data were compared to a normative Dutch population. Vision, hearing and intelligence were objectively measured. Results: The HUI-3 and the VAS were significant lower compared to the normative Dutch population. All syndromes have a high prevalence of vision and speech problems. Cognitive problems were mainly reported in patients with Apert, Crouzon and Muenke syndrome. Ambulation and dexterity problems were seen in Apert, Crouzon, Saethre-Chotzen and complex craniosynostosis. Only patients with Apert syndrome scored significantly worse on pain. The HUI-3 had a medium to strong correlation with the objectively measured outcomes. Conclusions: The overall quality of life is lower in patients with syndromic and complex craniosynostosis. To improve quality of life, more attention is needed for problems with vision and speech

Obstructive Sleep Apnea-Specific Quality of Life and Behavioral Problems in Children with Syndromic Craniosynostosis

Objective: This study aimed at evaluating the impact of syndromic craniosynostosis on quality of life, assessing the association between the presence of craniosynostosis syndrome and prevalence of behavioral problems and assessing the impact of obstructive sleep apnea (OSA) in syndromic craniosynostosis compared with healthy controls. Method: A prospective study was carried out using the Obstructive Sleep Apnea-18 (OSA-18) survey and Child Behavior Checklist (CBCL) in 119 syndromic craniosynostosis patients and the OSA-18 survey in 459 controls. The craniosynostosis population underwent a polysomnography to diagnose OSA. Results: The total OSA-18 score and scores on the domains sleep disturbance, physical suffering, and caregiver concerns were significantly higher in the craniosynostosis group than in controls. Subgroup analysis revealed behavioral problems in 67% and 50% of boys with Apert and Muenke syndrome, respectively. Correlations between obstructive apnea-hypopnea index and total OSA-18 and CBCL scores were significant. Mean scores for the domains sleep disturbance and physical suffering were significantly higher in moderate OSA. Conclusions: OSA is related with a lower quality of life in children with syndromic craniosynostosis. Behavioral problems were more common in boys with Apert and Muenke syndrome. OSA-18 and CBCL scores were correlated with OSA severity. (J Dev Behav Pediatr 32:233-238, 2011

Obstructive Sleep Apnea-Specific Quality of Life and Behavioral Problems in Children with Syndromic Craniosynostosis

Objective: This study aimed at evaluating the impact of syndromic craniosynostosis on quality of life, assessing the association between the presence of craniosynostosis syndrome and prevalence of behavioral problems and assessing the impact of obstructive sleep apnea (OSA) in syndromic craniosynostosis compared with healthy controls. Method: A prospective study was carried out using the Obstructive Sleep Apnea-18 (OSA-18) survey and Child Behavior Checklist (CBCL) in 119 syndromic craniosynostosis patients and the OSA-18 survey in 459 controls. The craniosynostosis population underwent a polysomnography to diagnose OSA. Results: The total OSA-18 score and scores on the domains sleep disturbance, physical suffering, and caregiver concerns were significantly higher in the craniosynostosis group than in controls. Subgroup analysis revealed behavioral problems in 67% and 50% of boys with Apert and Muenke syndrome, respectively. Correlations between obstructive apnea-hypopnea index and total OSA-18 and CBCL scores were significant. Mean scores for the domains sleep disturbance and physical suffering were significantly higher in moderate OSA. Conclusions: OSA is related with a lower quality of life in children with syndromic craniosynostosis. Behavioral problems were more common in boys with Apert and Muenke syndrome. OSA-18 and CBCL scores were correlated with OSA severity. (J Dev Behav Pediatr 32:233-238, 2011

Reliability and Validity of the Obstructive Sleep Apnea-18 Survey in Healthy Children and Children With Syndromic Craniosynostosis

Objective: Obstructive sleep apnea (OSA) affects a person's quality of life. A questionnaire, the OSA-18, is available to measure quality of life in children with OSA not caused by specific craniofacial syndromes. We assessed the internal consistency, test-retest reliability, and discriminative validity of the OSA-18 in children with syndromic and complex craniosynostosis; we also applied the OSA-18 in healthy children to obtain reference values. Method: The OSA-18 was translated in the Dutch language using the procedure of multiple forward and backward translations. Test-retest reliability and internal consistency were examined. In a prospective study, the craniosynostosis patients underwent an ambulatory polysomnography to diagnose OSA. The ability of the OSA-18 to discriminate between subgroups of patients with or without OSA was evaluated. We compared OSA-18 scores of children with syndromic or complex craniosynostosis with scores in healthy children. Results: The Cronbach's alpha was >= 0.70for the total OSA-18 score and for most of the domains in both the craniosynostosis and general population. In the craniosynostosis group, the test-retest intraclass correlation coefficients were >= 0.70, except for the domain physical suffering at 0.69. The discriminative validity of the domains sleep disturbance, physical suffering, caregiver concerns, and total OSA-18 score was significant between the general and craniosynostosis population. Conclusion: This study supports the reliability and validity of the OSA-18 in children with syndromic or complex craniosynostosis