View clinical trials related to Craniosynostoses.
Filter by:Hemodynamic evaluation during pediatric anesthesia is essential to care management. Intraoperative cardiovascular instability is frequent in major surgeries, and appropriate monitoring is necessary to ensure safe anesthetic conduction and promptly detect changes in blood pressure, cardiac output, blood volume, and organ perfusion. In this context, advanced hemodynamic monitoring, continuous measuring, and estimating various parameters can allow a more specific hemodynamic profile and help identify the causal mechanisms of its variability. Moreover, the reference ranges of hemodynamic values in different pediatric ages and how to best monitor hemodynamic status in pediatrics are still debated. Surgical treatment of craniosynostosis is usually performed at an early age, between 3 and 8 months of age. The operation is burdened by a high risk of hemodynamic instability related mainly, but not only, to potential substantial hemorrhagic losses. This study aims to characterize the hemodynamic events occurring during corrective craniosynostosis surgery, recorded simultaneously with standard monitoring and Pressure Recording Analytic Method (PRAM), and to analyze the paired measurements.
RESEARCH QUESTION Is the effectiveness of conservative policy comparable to that of surgery in children with trigonocephaly, with regard to clinical outcomes and psychosocial functioning, stress for parents, and costs? DESIGN Observational cohort study in children, aged 0 to 8 years old, with trigonocephaly, excluding metopic ridging (physiologic early closure of metopic suture), treated conservatively or surgically. OUTCOME MEASURES Primary: Head growth decline, indicating raised intracranial pressure Secondary: fundoscopy, cognition, behavior, refraction and vision, forehead shape, quality of life, posttraumatic stress, decisional conflict, costs.
This study will examine how effective caregiver's repositioning strategies are in correcting an infant's deformational cranial shape, as well as the effectiveness of the use of a custom cranial remolding orthosis for treatment of deformational head shapes. Infants with torticollis will be concurrently enrolled in physical therapy treatment until the torticollis is resolved. A normal, unaffected population will be studied to compare typical growth to the growth of infants undergoing active treatment.
- Endoscopic strip craniectomy (ESC) with post-operative helmeting is the gold-standard treatment for isolated, non-syndromic sagittal craniosynostosis in children under 6 months of age as it is has been demonstrated to reduce perioperative morbidity when compared to more invasive procedures such as cranial vault remodeling. ESC is frequently performed with or without the use of lateral osteotomies with technical selection being largely based on surgeon preference. - Previous studies have shown that there are no statistically significant differences in cranial expansion or complications between the two procedure variants; however, these studies are retrospective in nature and do not account for aesthetic outcomes. - The purpose of this study is to compare the efficacy of ESC with or without the use of lateral osteotomies in regard to cranial expansion and aesthetic outcomes for children treated with isolated, non-syndromic sagittal craniosynostosis. In addition, we seek to investigate if there are any observable changes in perioperative morbidity between the two procedures.
Craniosynostosis is a condition where infants are born with or subsequently develop an abnormally shaped skull. The skull develops from plates of bone separated from each other by growth lines (sutures). Craniosynostosis refers to early fusion of one or more of these sutures. Whilst in many cases the abnormal head shape provides doctors with the underlying diagnosis, it is necessary to confirm this using imaging. A CT scan involves using multiple x-rays to build a picture of the part of the body being examined. X-rays are associated with potential long term harm, particularly in young children who have longer to incur those risks. MRI uses magnets and radiowaves to create images of the body, and therefore a radiation-free method of imaging. The investigators have previously shown in a pilot group that a specific MRI technique ("Black Bone") can distinguish between normal and prematurely fused cranial sutures, and that the images can be reconstructed in 3D in the same way as CT. The investigators now need to confirm the findings in a larger patient group, and develop automated methods of creating 3D images of the bone. Children in whom there is clinical suspicion of craniosynostosis will be recruited for MRI examination. In children who are already undergoing MRI examination of the head (for any indication), the investigators will add on bone specific sequences. There are no known long term risks associated with MRI, and no contrast medium is required. Anonymised MRI data will be used to further develop our 3D techniques.
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes. Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines. The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including: 1. comorbidities 2. medical and their impact on quality of life 3. medication use 4. the need for adaption of medication dose according to each syndrome Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.
The study ARITH22 will investigate the role of visuo-spatial attention on arithmetic abilities of children with 22q11.2 deletion syndrome.
FGF23 is the cornerstone of phosphate / calcium / vitamin D metabolism: it is synthesized mainly by osteocytes and acts as a phosphaturizing agent, inhibitor of dihydroxyvitamin D, and inhibitor of synthesis and secretion of PTH in most tissues. The specific role of FGF23 on bone has yet to be demonstrated. In osteoblasts, overexpression of FGF23 in vitro suppresses not only osteoblastic differentiation but also the synthesis of the mineralized matrix independently of its systemic action on phosphate metabolism. In osteoblasts, FGF23 also regulates the secretion of osteopontin by directly suppressing transcription of alkaline phosphatase. In some diseases such as hypophosphatemic rickets (HR), the direct role of FGF23 on bone has not yet been studied to our knowledge, whereas these genetic hypophosphatemias are secondary to overexpression of FGF23, whether an activating mutation of FGF23 or inhibitory mutations of its inhibitors (DMP1 and PHEX). However, patients with X-linked hypophosphatemic rickets (XLH) have higher circulating FGF23 levels than healthy controls and these levels are higher in treated patients. Management of XLH consists primarily of correcting the native vitamin D defect by prescribing active vitamin D analogs as well as phosphate supplementation to improve bone mineralization and decrease dental complications, growth, and bone deformities. Recently, a new therapeutic option has been developed for XLH, burosumab, a human monoclonal antibody that binds and inhibits FGF23 activity. The use of burosumab is currently authorized in France in some pediatric patients with severe forms of XLH. Independently of the indirect bone effects of phosphate correction and vitamin D levels, the direct role of burosumab on bone cells has never been studied. The objective of this project is to study the osteoblastic biology of patients with RH compared to control patients, and to evaluate the direct impact of the treatments used in this pathology on human osteoblasts.
Context: Craniosynostosis is a common craniofacial abnormality which can be associated with various clinical syndromes. Though it has been established that children with craniosynostosis score lower on certain developmental tests, the effect of craniosynostosis and cranioplasty surgery on the neural circuitry and brain development is less well known or understood. Objectives: The purpose of this study is to describe the effect of cranial vault remodeling in children with craniosynostosis on white matter tracts with tractography and Diffusion tensor imaging (DTI), functional MRI, and neurodevelopmental tests, before and after surgery as compared to age-matched controls. Study Design: This will be a prospective study of patients diagnosed with craniosynostosis and who are going to have open or endoscopic cranial vault remodeling (CVR). Study Measures: The study will measure MRI sequences before and after surgery and at set time intervals to quantify the effect of white matter tract maturity. Parallel to this, neurodevelopmental tests will be administered at these same intervals.
Oral iron is commonly used in conjunction with EPO preoperatively for hemorrhagic surgeries in children and especially in the surgery of craniosynostosis. The bioavailability of oral iron is low and compliance with treatment is inconsistent. The aim of this study is to evaluate whether the use of ferric carboxymaltose by injection, which has a much better bioavailability, would make it possible to increase the preoperative hemoglobin level more effectively and thus reduce the risk of perioperative blood transfusion .