Evaluating parent perceptions, economic burden and the impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome [eCARE-22q11]

Background: The 22q11 deletion syndrome (22q11DS) is thought to be the most common microdeletion syndrome in humans and is estimated to have an incidence of 1 in 4,000 live births. The health challenges (i.e., cardiac defects, psychiatric disorders) associated with 22q11DS have a significant effect on the psychosocial wellbeing of patients as well as their families and result in high socioeconomic costs. A particular problem, depending on regional factors, is timely access to expert care including in particular psychosocial aspects. E-care is a promising, though possibly ethically and legally challenging means, to improve access to high quality expert diagnosis and care.Objectives: Using a multidisciplinary approach, the proposed research study aims to (1) explore socioeconomic burdens and ethical issues families have to face and (2) evaluate the (cost)-effectiveness and ethics of an online coaching intervention to reduce the socioeconomic burden of 22q11DS. Methods: An interdisciplinary international team of highly qualified child psychologists, social scientists, ethicists and geneticists, will conduct a mixed-methods study composed (1) of an online survey of 500 parents of children diagnosed with 22q11DS, aged 3-15 years. Parents who speak English, French or German will be recruited across Europe and Canada and asked to provide information about their own and their children’s psychosocial wellbeing as well as 22q11DS-related costs. We expect that at least 200 of all parents completing the online survey will indicate that their children’s psychosocial wellbeing is impacted and will be identified as eligible for a clinical trial. The 200 parents will be randomized to either receive an online coaching intervention or services as usual. (2) For more in-depth information on burdens and access to health care in Canada and Switzerland we will also conduct qualitative (semi-structured) interviews with a subset of these parents (n=20-25 in each country subsample, based on saturation).Importance and impact: If proven effective the online coaching intervention will fill an existing gap concerning access to health care by representing a valid and pragmatic e-Health option for families to receive remote mental health care. The “22q11DS" model will also provide valuable insights for the implementation of online psychosocial interventions and better understanding of ethical issues and economic barriers in the care of other rare diseases.