The OXYGEN Study: The impact of genomic diagnoses of sex chromosome aneuploidies on lifecourse quality of life.
Sex chromosome aneuploidies (SCAs) have a range of impacts on physical and mental health in children and adolescents. Phenotypes can vary widely and may not manifest as physical evidence of disability to the extent that some people are never diagnosed. However, as prenatal screening for these conditions expands, more and more individuals are being diagnosed prenatally. This growing cohort of children is navigating childhood and adolescence with a genetic diagnosis of unknown impact. This can make it hard for individuals with SCAs and their families to mobilize formal and informal support in providing for care needs and supplemental educational or vocational resources. This study is designed to explore the experiences of individuals growing up with a genetic diagnosis of SCAs and their families.
The aims of this study are:
1) To explore the social and emotional experiences of parents of receiving a prenatal diagnosis of an SCA, decision making regarding continuing the pregnancy, neonatal care needs, early interventions, and the need for social, educational, and medical support in early childhood.
2) To explore the social and emotional experiences of young adults with an SCA as they navigate the transition to financial and social independence, including barriers in education, socialization, stigma and support needs.