Charting Neurodevelopmental Pathways for Babies with Down Syndrome

How can understanding early development in kids with Down syndrome inform individualized care?

For decades, pediatricians relied on developmental roadmaps to help families anticipate the paths of early childhood. But for children with Down syndrome, that guide doesn’t exist. National Institutes of Health-funded studies create the chance to have a more comprehensive understanding of early development in Down syndrome, and the factors that influence development.

First-of-its-kind research led by a principal investigator team across three sites, including Children’s Hospital Colorado, aims to address this need. Nicole Baumer, MD, MEd, pediatric neurologist and Director of the Anna and John J. Sie Center for Down Syndrome, is Children’s Colorado’s principal investigator for two groundbreaking studies: the Birthday study and Communication and Play Early Abilities (CAPEabilities) study.

The first steps toward a developmental roadmap for Down syndrome

The Birthday study explores how neurodevelopment relates to medical conditions and biological markers found in a child’s blood. This study enrolls patients with Down syndrome around their first birthday and continues with follow-up visits on their second and third birthdays. Children in the Birthday study can also participate in the CAPEabilities study.

The CAPEabilities study focuses on how social communication and play skills emerge in children with Down syndrome, and how these aspects of development relate to medical conditions and biology. It also explores factors that could be associated with co-occurring neurodevelopmental diagnoses, such as autism and ADHD. It’s especially important to understand when children may have a co-occurring neurodevelopmental diagnosis because, as Dr. Baumer explains, if kids have a co-occurring diagnosis or greater developmental needs in certain areas, they might need more targeted strategies.

Participants in the CAPEabilities study enroll when they are 18 months of age and have follow-up visits at 30 months and 48 months.

Both studies track developmental progress in young children with Down syndrome over time using standardized developmental assessments and parental questionnaires. In the Birthday study, children also need to give blood samples. In the CAPEabilities study, it is optional to provide those biological samples.

“Understanding early developmental patterns in Down syndrome allows us to create tailored strategies that best support each child’s early development," Dr. Baumer says.

Understanding development in Down syndrome

Together, these studies aim to uncover the variable paths of development in Down syndrome, and how to best support every child.

Through this comprehensive research in the early developmental years, researchers can learn how to tailor services and interventions to each child. These studies don’t just track the factors of development — they build a foundation for more personalized care.

“Each child is an individual,” Dr. Baumer says. “It can be really hard early on to give good advice because we don’t have a roadmap for kids with Down syndrome in the way that neurotypical kids have. We want to be able to give very tailored and specific advice for children with Down syndrome that will allow each child to thrive.”

Learning to learn skills

As Dr. Baumer explains, “learning to learn” skills are critical for all children, but especially for children with Down syndrome. These skills create the foundation for future learning and development.

“Early, targeted interventions provide the right support at the right time during critical developmental periods,” Dr. Baumer says. “Supporting foundational skills such as social engagement, interaction and communication can help build a strong base for future growth.”

Dr. Baumer’s long-term goal with her research is to continue tracking health and development in children over time to understand patterns and outcomes.

“There has been a renaissance in Down syndrome research lately that has really made these types of studies possible,” Dr. Baumer says. She credits this to the National Institutes of Health’s INCLUDE Project, which encourages increased funding and innovation to support children with Down syndrome.

“I'm really excited to have better tools to monitor development in children with Down syndrome and to learn more about pathways that will lead to more targeted and tailored interventions to support them,” Dr. Baumer says. 

Ultimately, this work brings medicine closer to a future where every child with Down syndrome receives the care and support they need to thrive on their own path.