- Research Brief Spring 2017 April 13, 2017
- HDI Announces Applications Open for Developmental Disabilities Graduate Certificate April 13, 2017
- Spring Seminar: “Serving Those Who Served Us: Understanding Military Culture and Disability Awareness in College” March 24, 2017
- UK HDI announces new Universal Design class and certificate program March 20, 2017
- Kentucky Transition Summit Brings Community Together to Shares Ideas About Employment for Youth with Disabilities March 10, 2017
Having a Son or Daughter with Jacobsen Syndrome/11q Deletion Syndrome: Perspectives of Parents
by Stephanie Meredith, Anthony Lobianco & Harold Kleinert
Jacobsen syndrome (JS) is a rare genetic condition that often causes intellectual disabilities and health issues and has recently been added to various cell-free DNA prenatal screening tests. This condition often includes multiple physical features, a blood disorder, serious congenital heart defects in about 56% of patients, and a range of intellectual disabilities (ID). Individuals may also experience mild to moderate impairment in expressive language, vision problems, digestive issues; and common infections of the upper respiratory system [Grossfeld, 2004]. However, because JS is relatively rare, psychosocial research has never been performed on this population. Correspondingly, a patient education resource about this condition has not yet been published that reflects “the medical and psychosocial implications of the diagnosis” identified as a priority in the ACMG guidelines when providing information to prospective parents learning about screening results.