Nell Hodgson School of Nursing researcher, Sharron Close, PhD, received a $230,000 grant from the Patient-Centered Outcomes Research Institute (PCORI) to develop recommendations of meaningful symptom management and lifestyle interventions for patients and families battling sex chromosome aneuploidy (SCA). 

SCA conditions occur in children born with an abnormal number of sex chromosomes. SCA conditions are the most common chromosomal abnormality in humans, occurring in 1 out of 400 live births. The most prevalent SCA is Klinefelter Syndrome. SCAs are associated with increased risk of developmental delays, psychiatric impairments, and cardiovascular disease. 

This grant will directly address how to engage patients, families, clinicians, and researchers in the development of a new generation of research and evidence-based interventions for SCA. SCA conditions affect nearly one million Americans. 

"Over the past 20 years, academic literature reflects hundreds of case studies, case series, and descriptions of SCA and its associated symptoms and problems," explains Close. "They’ve addressed both health risks and neurocognitive problems, but there is scarce information about interventions helping patients and their families manage symptoms and coping with the issues they face in their day-to-day lives."

The PCORI funding will provide support to host a conference, titled Science and Family:  Bidirectional Translation of Knowledge and Need in Sex Chromosome Aneuploidy, which will include several meetings and follow-up conferences inclusive of conversations between patients, families, clinicians, and researchers with the purpose of asking new research questions, setting new research priorities, and developing new research collaborations. Close and her team will conduct focus groups to collect information and work to forge new collaborations across the research community.

"Collaboration is a major piece to the work that we will do," she says.  "There is so much more to learn about SCA and if we all work together, we can make deep inroads into understanding SCA and bringing some help for these patients and their families."