Improving accessibility of virtual interventions for families of infants with neurogenetic conditions - Resubmission

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 wellbeing. 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 subgroups of children, including those from families with fewer resources or those who have more medical involvement. 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 a wide range of families and (2) conduct a feasibility study of PIXI for families with more traditional barriers to care. 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. 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 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. This will be a prospective case series design. We will conduct a pilot with up to 10 infants, diagnosed with one a 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 demographic differences that may impact participation. In addition, this study will inform future studies seeking to engage families in research and improve health care access, especially for those facing a rare disease.