The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

Launched by UNIVERSITY OF COLORADO, DENVER · Jan 9, 2018

Keywords

ClinConnect Summary

The eXtroardinarY Babies Study is a clinical trial designed to learn more about the health and development of infants and young children with specific genetic conditions called sex chromosome variations, such as Klinefelter Syndrome and XYY Syndrome. Researchers want to understand how these conditions affect children's growth and brain development from a young age. By studying these children, the team hopes to find early signs that can predict their health and developmental outcomes, as well as to test different screening tools that doctors can use to help monitor these children.

To join the study, participants need to be between 6 weeks to 12 months old and should have a confirmed diagnosis of one of the sex chromosome variations mentioned. Parents or guardians must speak English or Spanish, and the baby should not have other serious health issues that could affect their development. By participating, families can contribute to valuable research that may improve care and support for other children with similar conditions in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. Prenatal diagnosis of sex chromosome aneuploidy (by cfDNA, chorionic villi sampling, and/or amniocentesis)
• • 2. Postnatal confirmatory karyotype of XXY, XYY, XXX, XXYY, XYYY, XXXY, XXXX, XXXXX, XXXXY, XXXYY, XXYYY, XYYYY (including any mosaicism with \<80% 46,XX or 46,XY cell line)
• • 3. English or Spanish speaking
• • 4. Age 6 weeks to 12 months 30 days on enrollment
• Exclusion Criteria:
• • 1. Previous diagnosis of a different genetic or metabolic disorder with neurodevelopmental or endocrine involvement
• • 2. Prematurity less than 34 weeks gestational age
• • 3. Complex congenital malformation not previously associated with sex chromosome aneuploidy
• • 4. History of significant neonatal complications (ie intraventricular hemorrhage, meningitis, hypoxic-ischemic encephalopathy)
• • 5. Known complex Central Nervous System (CNS) malformation identified by neuroimaging