Down Syndrome Program Research and Innovation

The Boston Children’s Hospital Down Syndrome Program’s research team works hand in hand with our clinical care team in our mission to help all individuals with Down syndrome reach their fullest potential. Our studies aim to shed light on brain and behavior development in individuals with Down syndrome by looking at genetics, neural pathways, and biomarkers that may help predict outcomes. In particular, we focus on cognition, learning and memory, as well as neurodevelopmental and behavioral challenges that commonly co-occur in individuals with Down syndrome. We are also committed to developing and studying valid and reliable diagnostic tools, and research aimed at exploring new educational, behavioral, and medical interventions which may improve overall functioning. Through our multi-center and multidisciplinary efforts, we also aim to understand the developmental trajectory and impact of medical issues in individuals with Down syndrome, and to explore potential interventions that may improve physical and mental health, and neurodevelopment.

Research Projects

-Neurobehavioral Phenotype study: This is a chart review of medical, neurodevelopmental, and behavioral profiles of children with Down syndrome (DS) who have received neuropsychological testing at Boston Children’s Hospital: this investigation is aimed at identifying patterns and factors associated with comorbid medical, neurodevelopmental and behavioral conditions diagnosed in children with Down syndrome.  Thus far, we have discovered factors that contribute to educational placement and likelihood of inclusion settings in individuals with Down syndrome.

-Ophtho study: We are collaborating with Drs. Hunter and Ledoux in ophthalmology and Dr. Lee Goldstein from Boston University to recruit patients for their study of a new non-invasive device that can measure the presence of beta-amyloid protein in the lens. 

Completed Projects

-Longitudinal Down Syndrome Study: multi-site initiative to gather health information about medical comorbidities in Down syndrome. This study was designed to track health and medical history in individuals with Down syndrome across their lives, with health information gathered from existing medical records.

-Sleep study: We are studying obstructive sleep apnea in Children with Down syndrome and evaluating whether other less cumbersome tests in combination or alone (e.g. a dental xray, 3-D photograph or a urine protein) might be used in place of the current gold-standard of overnight polysomnography (sleep study) to help predict which children with Down syndrome are at highest and lowest risk for sleep apnea.  This might help eliminate the need for sleep studies in some children at lowest risk and direct those at highest risk to otolaryngology consultation for tonsillectomy.  Data collection is now complete and data analysis is underway. 

-Physical Therapy Study:  We created a survey to determine current treatment trends in orthotic use and initiation of standing activities in pre-ambulatory children with Down syndrome who are not independently creeping.  Early intervention providers from across the country were asked about their recommendations for orthotics and treatment philosophies regarding mobility skills.  We found that an average of 54% of clients use SMOs.  A minority of providers (14.3%) stated that they recommend that children should creep independently prior to initiating standing activities.  While there is research in the ambulatory population, orthotic use for pre-ambulatory children is an area that has limited research.  It is also important to discuss whether to delay standing activities if a child is not yet creeping independently, given that many children with Down syndrome do not creep in quadruped.

-Speech and Language Study: The Receptive-Expressive Emergent Language Test- Third Edition (REEL-3) was used to assess receptive and expressive language development among toddlers with Down syndrome (ages 7-36 months). The goal was to determine typical performance of toddlers with DS on this measure, so that their language development can be compared amongst themselves, rather than against typically developing peers. Expected percentiles for receptive and expressive language scores at each age were estimated.