Boy with Jacobsen syndrome

Research Brief Spring 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.

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HDI Shares Importance of Giving Updated Information With Genetic Diagnoses

When parents first hear the news that their child has a genetic condition, they want support and accurate and up-to-date information right away. They fundamentally want to know what life is like for people living with those conditions. However, sometimes they may receive outdated information or resources that leave them frustrated and confused. Parents may also receive a list of medical conditions associated with a condition without information about life outcomes and social supports. Continue reading