Brain Imaging Study Expanded to Include Children with Down Syndrome

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Trisomy 21 Update

The National Institutes of Health (NIH) recently extended funding for an Infant Brain Imaging Study (IBIS) at Children's Hospital of Philadelphia (CHOP) to better understand brain and behavioral development among children with Down syndrome (trisomy 21).

The study builds on prior research by the Center for Autism Research (CAR) at CHOP and is being led by Robert T. Schultz, PhD, Director of CAR; Mary Pipan, MD, Director of the Trisomy 21 Program; and Juhi Pandey, PhD, pediatric neuropsychologist.

The new study will:

  • Track the development of infants with Down syndrome at 6, 12 and 24 months old
  • Assess school-age children (aged 7-11) with Down syndrome

To evaluate patients, researchers will use developmental assessments, behavioral testing, experimental paradigms, and magnetic resonance imaging (MRI) collected during nighttime sleep (for infants), and awake MRI for school-age children. The goal of the study is to provide families with important feedback regarding learning, behavior and brain differences in infants and children with Down syndrome.

Expansion of autism research

The study on brain imaging in children with Down syndrome builds on a decade of research by CHOP's Center for Autism Research, one of four federally funded research sites following brain development among infants at high risk for developing autism spectrum disorder (ASD). The study tracks the developmental course and autism symptomatology in children — at 6, 12 and 24 months of age — using behavioral tests, developmental assessments and MRI.

The innovative use of MRI and longitudinal follow-up has led to breakthrough findings for children with autism regarding:

  • Differences in brain volume, size and function
  • Differences in language, motor development and behavior
  • Changes in symptom expression that occur across time

These landmark findings have transformed the way researchers think about autism.

Families sought for research study

The new IBIS project involving infants and children with Down syndrome began in spring 2019. Clinicians are inviting families to participate.

These studies provide clinicians and researchers with the opportunity to learn more about brain development and behavioral presentations at crucial time periods in early development and as a child grows. Detecting differences could have an important impact on each child's treatment and care.

Families who participate in the IBIS will receive individualized feedback from highly trained CHOP clinicians regarding their child’s development, including a detailed results report providing important intervention targets. In addition, all families will be compensated for their time.

Families interested in participating or learning more can contact Raquel Serruya, IBIS Research Assistant, at or 267-425-1727.

Learn more about the IBIS Network.

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