Trisomy 21

The Executive Function Play Opportunities (EXPO) study is a sequential, multiple assignment, randomized trial (SMART) evaluating adaptive caregiver-mediated intervention pathways for improving executive function (EF) in children with Down syndrome (DS). At baseline, participants will be randomized in a 1:4 ratio to receive either a delayed-treatment control condition or the EXPO intervention. After 4 weeks of standard EXPO intervention in stage 1, participants in the EXPO condition will be assessed for response to the intervention based on prespecified criteria for improvement in laboratory-based EF performance. Early responders will continue with the standard EXPO intervention in stage 2. Slower responders will be randomized to either the EXPO Extended or EXPO Foundations pathway. All participants will complete laboratory and parent-report measures of EF immediately post-intervention and 3 months later. Participants in the delayed-treatment control condition will complete the same assessments as the EXPO groups and will be offered the EXPO intervention after completion of the 3-month follow-up.

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).

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.

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.