RecruitingNCT03396562

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

Sponsor

University of Colorado, Denver

Enrollment

300 participants

Start Date

Sep 29, 2017

Study Type

OBSERVATIONAL

Conditions

Klinefelter Syndrome Trisomy X XYY Syndrome XXXY and XXXXY Syndrome

Summary

This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early predictors of developmental and health outcomes. The Investigators will also evaluate different developmental screening tools in infants with sex chromosome variations so the investigators can develop recommendations for pediatrician caring for infants and young children with XXY/Klinefelter syndrome, XYY, XXX, and other sex chromosome variations.

Eligibility

Min Age: 6 WeeksMax Age: 13 Months

Inclusion Criteria4

Prenatal diagnosis of sex chromosome aneuploidy (by cfDNA, chorionic villi sampling, and/or amniocentesis)
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)
English or Spanish speaking
Age 6 weeks to 12 months 30 days on enrollment

Exclusion Criteria5

Previous diagnosis of a different genetic or metabolic disorder with neurodevelopmental or endocrine involvement
Prematurity less than 34 weeks gestational age
Complex congenital malformation not previously associated with sex chromosome aneuploidy
History of significant neonatal complications (ie intraventricular hemorrhage, meningitis, hypoxic-ischemic encephalopathy)
Known complex Central Nervous System (CNS) malformation identified by neuroimaging

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Interventions

OTHERAssessments of Development and Growth

Longitudinal observational assessments of development and growth at ages: 2 months, 6 months, 12 months, 18 months, 24 months, 36 months, 48 months, 5 years, 6 years, 7 years, 8 years, 9 years of age.