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

Description

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.

Conditions

Klinefelter Syndrome, Trisomy X, XYY Syndrome, XXXY and XXXXY Syndrome, Xxyy Syndrome, Xyyy Syndrome, Xxxx Syndrome, Xxxxx Syndrome, Xxxyy Syndrome, Xxyyy Syndrome, Xyyyy Syndrome, Male With Sex Chromosome Mosaicism

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Study Overview

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Study Details

Study overview

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.

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

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

Condition
Klinefelter Syndrome
Intervention / Treatment

-

Contacts and Locations

Aurora

Children's Hospital Colorado, Aurora, Colorado, United States, 80045

Philadelphia

Nemours at Thomas Jefferson University, Philadelphia, Pennsylvania, United States, 19107

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • 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

Ages Eligible for Study

6 Weeks to 13 Months

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of Colorado, Denver,

Nicole Tartaglia, MD MS, PRINCIPAL_INVESTIGATOR, University of Colorado, Denver

Study Record Dates

2028-03-01