How do women adapt to being a Barth syndrome carrier? A mixed methodological study of psychological adjustment and reproductive options
Cynthia James, PhD, Research Associate, Johns Hopkins University, Baltimore, MD

Award—US $48,563 over 2-year period

Abstract:

As affected boys are increasingly correctly diagnosed with Barth syndrome, their female relatives are similarly increasingly identified as TAZ mutation carriers. How carriers navigate the resulting psychological and clinical reproductive challenges is not well understood. The few studies of carriers of familial X-linked recessive conditions suggest carrier status strongly influences reproductive plans and in some women leads to guilt, anxiety, self-blame, and stigma. However, no study has included carriers of Barth syndrome or indeed carriers of any X-linked cardiac condition. Most were completed when current reproductive options were not yet available. Defining which issues are most common and challenging for Barth syndrome carriers and identifying which women are at highest risk for clinically significant difficulties is a critical first step towards effectively predicting and ameliorating these challenges. Investigating whether and how interactions with other carriers promote well-being will provide information to enable health care providers and support organizations alike to improve outreach and interventions for carriers. Addressing these issues is important not only for carriers but also for their families. Therefore, we will conduct a two phase study in which we first conduct semi-structured telephone interviews with 30 TAZ mutation carriers to identify and describe common psychological and reproductive challenges and to explore the role of social and familial support. In phase 2, we will develop and administer a cross-sectional questionnaire to approximately 100 adults who have completed TAZ carrier testing. Questionnaires will be analyzed to quantify the frequency and severity of difficulties with adaptation, predict which women are at highest risk, and test hypotheses of the influence of family and social support of other carriers developed in phase 1.

Associated Presentations to Date:

BSF 2016 Conference
July 22, 2016 ~ Clearwater Beaach, FL

How do women adapt to being a Barth syndrome carrier? A mixed methodological study of psychological adjustment and reproductive options.