Clinical Research Directory

Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia

The researchers are investigating if the Self-Supporting Nasopharyngeal Airway (ssNPA) device can be used in the treatment of obstructive sleep apnea in children with Hypotonic Upper Airway Obstruction (HUAO).

Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography

The goal of this single-centre longitudinal observational study is to create reference values for diastolic function parameters in neonates born at 35 weeks' gestation or above, and to assess the influence of pre-defined antenatal, intrapartum, maternal, and neonatal factors on cardiac function. The main question it aims to answer are: * What are the normal reference ranges for parameters of diastolic cardiac function in neonates? * How are these influenced by maternal, intrapartum and neonatal factors? * Do the diastolic changes noted during the first two days of life persist into infancy? Participants will have four echocardiographic assessments in total: * Two during the first 48 hours of life (prior to discharge home) * Two during infancy (as an outpatient)

The Human Trisome Project

The Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research.

Periodontitis and Inflammation in Children With Down Syndrome/Trisomy 21: Study on Biological Samples

Since 2018, the Chicago Classification of Periodontal Diseases and Conditions, has listed Down syndrome (DS)/trisomy 21 (T21) as a systemic disease with periodontal implications. Numerous studies report an increased prevalence and severity of periodontitis in DS/T21 individuals under the age of 35. Approximately 35% of adolescents with DS show early signs of alveolar bone loss. However, very few studies have examined the role of immune deficiency in DS/T21 patients in the pathogenesis of periodontitis. Indeed, periodontitis induced by bacterial plaque is virtually non-existent in the paediatric population, leaving the field to systemically-induced periodontitis. The investigators hypothesize that specific neutrophil phenotypes in DS/T21 patients are key to explaining the rapid progression to periodontitis. Investigator's primary objective is to characterize the different oral and blood neutrophil subtypes in DS/T21 children with gingival inflammation. Investigator's secondary objective is to assess the involvement of different neutrophil subtypes in early periodontitis in children with DS/T21.

Relationship Between Eating Patterns, Body Composition and the Detection of Fatty Liver in Children and Adolescents With Trisomy 21: LiverTy Project

Childhood obesity is a growing public health issue affecting millions of children worldwide, increasing the risk of metabolic and cardiovascular diseases in adulthood. This problem is particularly concerning in children and adolescents with Down syndrome (trisomy 21, T21), who have a higher predisposition to fat accumulation due to genetic, metabolic, and behavioral factors. However, assessing their nutritional status and body composition is challenging, as conventional tools such as body mass index (BMI) may not accurately reflect adiposity in this population. One of the most severe risks associated with obesity in children with T21 is non-alcoholic fatty liver disease (NAFLD). This condition is characterized by fat accumulation in the liver without significant alcohol consumption and is closely linked to insulin resistance, dyslipidemia, and pro-inflammatory states. If not detected early, NAFLD can progress to more severe liver diseases such as fibrosis or cirrhosis. In individuals with T21, the prevalence of NAFLD may be underestimated due to the difficulty in properly assessing body composition and metabolism. Since NAFLD diagnosis traditionally requires invasive procedures such as liver biopsy, this study proposes using non-invasive techniques, such as liver elastography, to assess liver health in children and adolescents with T21. Additionally, dietary habits will be analyzed using standardized tools to establish the relationship between nutrition, body composition, and NAFLD risk in this population. Study Hypothesis: The main hypothesis is that obesity and inadequate dietary patterns increase the risk of NAFLD in our participants with T21. The investigators also believe that liver elastography will enable the early detection of fat accumulation in the liver and other signs of liver disease, facilitating timely intervention. Study Objectives: The primary objective of this study is to evaluate the presence and severity of NAFLD in children and adolescents with T21 using non-invasive diagnostic techniques and nutritional assessment methods. Specifically, the study will analyze: * Liver health: Measurement of liver fat and stiffness using elastography. Body composition: Anthropometric evaluation and adiposity analysis. Dietary habits: 24-hour food recall and KIDMED questionnaire to assess adherence to the Mediterranean diet. * Relationship between obesity and NAFLD: Identification of metabolic and behavioral risk factors.