Shanlee Davis, MD, PhD
Assistant Professor
University of Colorado School of Medicine
Denver, Colorado, United States
Rates of early diagnosis of sex chromosome trisomies/SCT including XXY/Klinefelter, Trisomy X, and XYY syndromes – collectively affecting 1 in 500 children, have increased markedly due to changes in prenatal testing. Individuals are presenting to primary and subspecialty care more frequently and at younger ages. As a result, pediatric providers are faced with questions related to diagnosis, prognosis, screening, management, and disclosure for conditions in which they may have little previous experience.
This session will feature interdisciplinary speakers from the eXtraordinarY Kids Clinic to discuss the implications of the increased diagnostic rates of SCTs, clinical care recommendations for SCTs from birth through adolescence, and emerging hot topics surrounding SCT care.
-Genetics, genetic testing, and genetic counseling for SCT conditions
-Phenotypic presentation and variability for SCT conditions
-Developmental and mental health risks, with an emphasis on screening and treatment for developmental delays, neurodevelopmental disorders such as ADHD, autism and learning disabilities, and mental health conditions such as anxiety disorders. We will discuss evaluation and treatment options for these topics.
-Endocrine care with specific discussion of testosterone therapy in XXY/Klinefelter syndrome in infancy and adolescence, as well as endocrine considerations for Trisomy X and XYY.
-Other medical risks associated with SCTs, including feeding/GI, cardiac, metabolic, orthopedic, allergy, and others, that providers should be aware of.
-Considerations for disclosure of the diagnosis to the patient, relatives, and others.
Cases examples and discussion points will accompany each topic, along with evidence-based recommendations and resources for pediatric providers informed by current research.
Speaker: Shanlee Davis, MD, PhD – University of Colorado School of Medicine
Speaker: Rebecca Wilson, PhD – University of Colorado School of Medicine
Speaker: Susan Howell, MS, CGC, MBA – University of Colorado School of Medicine