2026 Pilot Grant Awardee Sarayu Ratnam, PhD

Grant Awardee: Sarayu Ratnam, PhD, Research Assistant Professor, Ann & Robert H. Lurie Children’s Hospital of Chicago (Northwestern University Feinberg School of Medicine)

Project Title: Biological, Lifestyle, and Psychosocial Determinants of Fatigue in Youth with Sex Chromosome Aneuploidies to Advance Clinical Care and Support Clinical Trial Readiness

Study Summary: This prospective research study is designed to better understand fatigue in children, adolescents, and young adults with sex chromosome aneuploidies (SCA), including Klinefelter syndrome (47,XXY), Turner syndrome (45,X), Triple X syndrome (47,XXX), XYY syndrome (47,XYY), and other SCA conditions. Although fatigue is frequently reported by individuals with SCA and their families, it has received very little systematic study despite its potential impact on physical health, cognitive functioning, school and work participation, emotional well-being, and overall quality of life. Fatigue may result from multiple interacting factors, including sleep disturbances, mood symptoms, reduced physical activity, hormonal differences, pubertal development, and coexisting medical conditions, yet the relative contribution of these factors in SCA remains largely unknown. By evaluating fatigue across different stages of development, the study seeks to determine how fatigue changes from childhood through adolescence and into young adulthood, identify modifiable risk factors associated with greater symptom burden, and better understand which individuals may be at greatest risk for persistent fatigue.

Study Design: Participants between the ages of 6 and 25 years will complete a series of validated electronic patient-reported outcome (ePRO) questionnaires over a six-month period to assess fatigue, sleep quality, physical activity, anxiety, depression, attention, social functioning, and overall health-related quality of life. Clinical information, including growth, body mass index, pubertal status, hormone levels, hormone replacement therapy, and other medical conditions, will also be collected to better understand the biological and clinical factors associated with fatigue.