0BPROJECT SUMMARY/ABSTRACT
As efforts to identify rare neurogenetic conditions (NGC) earlier in life increase, there is a growing need for
accessible, empirically based intervention programs to support early development and encourage family
well-being. Systematic empirical studies of early intervention (EI) for NGCs are severely lacking, primarily
due to most children not receiving an accurate diagnosis until later in childhood. As a result, even children
who are diagnosed earlier than average do not receive interventions targeted to the known developmental
sequalae for their condition, a lost opportunity to make an impactful difference for these children and their
caregivers. The consequences of this lost opportunity may be exacerbated for children of color, who are
already at higher risk for later diagnoses and other health inequalities. The Parent Infant Interac(X)tion
Intervention (PIXI) is a telehealth-based EI program designed to support the adaptation of caregivers to a
new, rare NGC diagnosis in their infants and to provide parent-mediated intervention to improve child
outcomes across the first year of life. PIXI is delivered remotely, providing centralized deployment of support,
information, surveillance, and intervention in the comfort of the family home. The proposed study includes
two aims: (1) identify participation facilitators and barriers for Black/African American and Hispanic families
and (2) conduct a feasibility study of PIXI for Black/African American and Hispanic families. The proposed
project is expected to result in a manualized framework and protocol for providing rapid and virtual
deployment of support and intervention for infants with NGCs from diverse backgrounds. Results may also
increase health equity and inform the potential for EI programming to contribute to “net benefit” in decisions
regarding inclusion of these conditions on future newborn screening panels. Further, this study will provide
insight into the perceived and experienced challenges to participation in telehealth and virtual interventions
for families of color, who have traditionally been underrepresented in research on rare diseases. We will use
a combination of stakeholder input and individual interviews to conduct a comprehensive assessment of
facilitators, barriers, and delivery preferences for participation in PIXI among Black/African American or
Hispanic caregivers of a young child with an NGC. This will be a prospective case series design. We will
conduct a pilot with up to 10 infants from families of color, diagnosed with one of our target NGCs during
their first year of life. This study will provide critical information needed to assure PIXI will be an accessible
program for families from a diverse set of backgrounds and experiences. It will allow us to further develop
PIXI to support families of children with rare conditions while accounting for cultural differences that may
impact participation. In addition, this study will inform future studies seeking to engage families of color in
research and improve health care access, especially for those facing a rare disease.
