Trisomy 21, the most common genetic cause of Intellectual Developmental Disorder, is associated with significant developmental delays and brain differences by infancy. Beyond these early differences, cognitive challenges occur throughout the lifespan, including regression in childhood and Alzheimer’s dementia in adulthood. Accumulating research on the biological bases of Down syndrome (DS) phenotypes, encompassing genetics, neuroimaging, and preclinical models, has resulted in potentially actionable treatment targets. However, limited studies of early childhood development in DS constitutes a gap in the field’s ability to evaluate the impact of potential treatments in future clinical trials. Interdisciplinary early childhood investigations of DS are critical to interpret how early phenotypic differences and trajectories relate to later outcomes, whether naturalistically or in the context of intervention. Integration across foundational developmental studies and mechanistically-oriented work identifying treatment targets will advance health care and clinical trial readiness in early childhood for individuals with DS.

Given the paucity of literature on early childhood development (i.e., infancy to age 8 years) in Down syndrome, there is a need to understand how early neurodevelopmental differences emerge and evolve over time. This is essential for distinguishing differences that arise early in childhood from those that emerge later and identifying effective windows for intervention. Characterizing measurable differences linked to later outcomes, as well as modifying factors, will inform more timely and personalized targets for assessment and therapy. The goal of this Research Topic is to bring together work on early childhood in Down syndrome, spanning phenotypes, trajectories, assessments, and early childhood-relevant preclinical work, that could inform clinical care and identify potential targets for measures to improve clinical trial readiness.

The editors particularly welcome submissions focusing on the following areas:
•            work describing early development in DS, including the prenatal period, infancy, and early childhood up to age 8
•            characterization of key DS-relevant phenotypes, particularly with quantitative measures
•            development and validation of new assessments and tools for collecting clinically informative data, including behavioral metrics, wearables, advances in feasibility for biospecimen collection (e.g., Tasso blood sampling)
•            identification or characterization of DS-relevant biomarkers (e.g., via neuroimaging or inflammatory markers)
•            translationally oriented work in animal models that could inform early developmental assessment or treatment targets
•            medical and neuropsychiatric comorbidities, including those related to altered physiology (e.g., sleep disorders)
•            psychosocial/family factors that may influence presentation of DS (e.g., caregiver mental health).

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Early Childhood Development in Down Syndrome: Interdisciplinary Approaches to Advance Care and Clinical Trial Readiness