Insights into successful parenting moments: Capturing expertise in Fragile X syndrome to achieve best possible health outcomes in rare disorders
Creators: Kelm, Karen E
Publisher: name: University of Alberta Library
Year: 2023

<p>Fragile X syndrome is a rare genetic disorder with a unique inheritance pattern that impacts many family members. Current models of investigation focus on deficits and these perspectives overlook opportunities that may provide meaningful support for individuals and families living with Fragile X syndrome. As a mother with over 20 years of lived experience raising three children with Fragile X syndrome, I can see my child beyond their diagnosis while also recognizing the impact it has made on their lives and those around us. There is a strong body of research which suggests that the relationship between a mother and their child has a significant impact on the child’s development and participation in life. Given there is extremely limited research and strategies promoting child development and meaningful participation in life for individuals with Fragile X syndrome, this study will aim to capture and evaluate the strengths, assets, and strategies utilised by mothers raising a biological child with Fragile X syndrome.The first objective of this thesis was to review the literature to understand how the distinct perspectives and knowledge of different care team members for an individual with complex needs can impact communication caregivers and healthcare professionals. Knowledge mapping emerged as a tool to support quality communication between team members. These findings demonstrated how differences in mental models, as well as challenges related to health literacy and knowledge transfer can have an impact on communication. Next, we reviewed concept maps and care maps as two different visual representations of knowledge. Finally, we highlight the potential benefits and limitations of mapping to improve communication issuesrelated to caring for individuals with Fragile X syndrome and potentially other neurodevelopmental disorders.The second project was an exploratory qualitative study using semi-structured interviews with mothers raising biological sons with Fragile X syndrome to capture their expertise and understand the strategies used to achieve successful parenting moments. This study used Cognitive Task Analysis (CTA) methodology. Reflexive thematic analysis was used to identify themes related to care strategies. Participants were N=7 mothers of sons with Fragile Xsyndrome from Canada, USA, and Australia. The concept maps showed that mothers apply a great deal of complex cognitive effort in caring for their sons and have developed a range of expertise in recognizing cues and making decisions or judgement calls. These findings, partnered with the reflexive analysis, identified 3 themes related to successful parenting events: (1) Follow the spark (2) Be kind to yourself (3) Recognize the Champions that surround you and your child and embrace all they have to offer.The current message that dominates resources and literature describes individuals with Fragile X syndrome in a detrimental manner. The assets and strengths associated with the powerful relationship between mothers and biological sons with Fragile X syndrome can provide insights and strategies that promote development and meaningful participation in life. This thesis identifies core strategies in Fragile X syndrome which have commonalities across a broader population of individuals and should be considered for parents, health professionals, and researchers.</p>