Project: Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome

Acronym	eCARE-22q11 (Reference Number: EJPRD21-044)
Project Topic	The 22q11.2 deletion syndrome (22q11DS) is thought to be the most common microdeletion syndrome, with 1 out of 4,000 children having this condition. The health problems (i.e., cardiac defects, immune problems, neuropsychiatric disorders) associated with the 22q11DS strongly impact the quality of life of patients and their families. Using a multidisciplinary approach, the proposed research study aims to assess the socioeconomic impact of 22q11DS and to test the effects of an easy-to-access online coaching intervention designed to help reduce this impact for families. First, we will conduct an online survey with 500 parents of children with 22q11DS, aged 3-15 years. In the survey parents will be asked to provide information about their own and their children’s psychosocial wellbeing, barriers to care, and 22q11DS-related costs. For more in-depth information we will directly interview a subset of the parents. We expect that at least 200 parents completing the survey will indicate that their children’s psychosocial wellbeing is impacted by 22q11DS. Those parents will be eligible to be included in a trial. Specifically, the 200 parents will either receive an online coaching intervention designed by the research team or standard services as usual. If proven effective, the online coaching intervention will be an important addition to the health care services already in place for these families. This intervention model will also serve as a paradigm for how to best integrate online solutions into care for other rare diseases, helping to reduce their impact on families in general.
Network	EJP RD
Call	3rd EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2021)

Project partner

Number	Name	Role	Country
1	Dalhousie University	Coordinator	Canada
2	Hospital for Sick Children	Partner	Canada
3	University of Basel	Partner	Switzerland
4	Gottfried Wilhelm Leibniz University of Hannover	Partner	Germany
5	Relais 22 asbl (coordinator for 22q11 Europe)	Partner	Belgium
6	Wir sind 22q e. V.	Observer	Germany
7	University of Toronto	Observer	Canada
8	University of Toronto	Observer	Canada
9	Hospital for Sick Children, Toronto	Observer	Canada
10	Dalhousie University	Observer	Canada
11	Dalhousie University	Observer	Canada
12	Gottfried Wilhem Leibniz University of Hannover	Observer	Germany
13	Gottfried Wilhem Leibniz University of Hannover	Observer	Germany
14	Faculty of Law, geneva	Observer	Switzerland
15	University Hospital Lausanne	Observer	Switzerland
16	KU Leuven	Observer	Belgium
17	university of basel	Observer	Switzerland
18	Children's hospital of Philadelphia	Observer	United States