Treatment of acute Achilles tendon ruptures has long been controversial. Several treatment options exist for patient with variable harms and benefits to each. Recognizing that decision of treatment option is preference-sensitive, this thesis focused on updating the current literature on Achilles tendon rupture management to facilitate the creation of a patient decision aid. A network meta-analysis of all treatment options for acute Achilles tendon ruptures was performed. Results demonstrated that minimally invasive surgery options were associated with lower complications and lower complications requiring surgery. Return to sport was similar amongst all treatment groups. With guidance from the Ottawa Decision Support Framework and the International Patient Decision Aid Standards, a three-tiered protocol for development, alpha testing and field-testing a novel patient decision aid is outlined next. The patient decision aid will be reviewed and revised iteratively by multi-disciplinary steering group. This protocol will act as a framework for further orthopaedic patient decision aid development.

Purpose. To systematically develop and conduct preliminary evaluation of a decision support intervention to engage patients and their families about whether to accept or decline implantable cardioverter-defibrillator (ICD) pulse generator replacement. Methods. A series of studies using multi-methods and guided by the Ottawa Decision Support Framework and the Normalization Process Theory: 1) an integrative review of patients’ perspectives on ICD decision-making; 2) a systematic review of the risks and benefits of ICD replacement; 3) an embedded mixed methods study to iteratively develop a patient decision aid (PDA) and simultaneously plan for its implementation; and 4) a feasibility pilot randomized controlled trial to evaluate ease of recruitment, decision support intervention delivery and data collection. Findings. The integrative review of 25 articles reported that ICD decision-making was difficult and the majority of patients misunderstood ICD therapy. The systematic review of 17 nonrandomized studies reported that complication rates are higher at replacement as compared to initial implant, mortality benefit post ICD replacement is unclear, and patients’ clinical profile can affect ICD’s effectiveness. Findings from both studies were used to draft a PDA. Interviews with 18 end-users (clinicians, patients, spouses) revealed that the current ICD replacement process is automated and needs to elicit patient preferences. The PDA was considered the optimal tool to initiate the discussion of options. In a feasibility trial, 30 patients were randomized to the decision support intervention (PDA + decision coaching) (n=15) or usual care (n=15). The intervention was used as intended, users found the PDA acceptable but acceptability of decision coaching was variable. Patients exposed to the intervention had better knowledge scores compared to controls. Conclusion. The Ottawa Decision Support Framework and Normalization Process Theory were complementary frameworks to ensure that the decision support intervention has the potential for implementation. To determine whether this approach was successful, future research is required to evaluate and implement the intervention in clinical practice. Findings from the feasibility study will be used to design an effectiveness trial.

Congenital Adrenal Hyperplasia (CAH) describes a set of autosomal recessive diseases which affect enzymes mediating steroid biochemistry in the adrenal glands. In chromosomal females, the excess androgens associated with CAH cause virilization. Females with a high degree of virilisation can undergo feminizing genitoplasty in infancy or later in life. Parents and guardians are the medical proxies for their infants and therefore make decisions on their behalf. However, decision-making about feminizing genitoplasty can be very difficult. One tool that could help in such a situation is an electronic patient decision aid (PtDA). However, a PtDA for feminizing genitoplasty does not exist and there is insufficient information in existing literature to inform its design and development. Thus, the objectives of this study were to: (1) Identify user requirements, (2) Develop specifications for the design and development of the PtDA, and (3) Understand the best way to implement and distribute the PtDA We used the persona-scenario methodology to acquire user-requirements. Persona-scenario sessions were conducted with four parents of children with CAH, two adult patients with CAH, and four healthcare practitioners. Participants created fictitious personas, and scenarios wherein their personas interacted with an idealized version of the PtDA. Transcripts of these persona-scenarios and facilitator notes were analyzed to identify user-requirements, which were interpreted into specifications. Participants provided user requirements about (1) information and decisional content in the PtDA, (2) proposed functionalities for the PtDA, (3) web usability, and (4) implementation context. Many of these requirements are supported by existing literature. The requirements identified in this project will inform the design and development of a PtDA for feminizing genitoplasty in patients with CAH. However, further research is necessary to understand how to best implement these requirements and to ensure that the gathered information is useful for a broad range of potential end users. / Thesis / Master of Science (MSc)

Depuis 2018, une offre de tests de porteurs pour quatre maladies héréditaires récessives (l’acidose lactique congénitale, l’ataxie récessive spastique de Charlevoix-Saguenay, la neuropathie sensitivomotrice avec ou sans agénésie du corps calleux et la tyrosinémie héréditaire de type 1) reconnues pour être plus prévalentes dans certaines régions de la province de Québec est disponible. Les couples porteurs de maladies héréditaires font face à un processus décisionnel important concernant leur planification familiale qui peut devenir une importante source d’inconfort et de possibles regrets. L’objectif de ce projet était de décrire les besoins décisionnels des couples porteurs de l’une ou l’autre de ces quatre maladies, guidés par le modèle d’aide à la décision d’Ottawa. Pour ce faire, une étude qualitative descriptive a été effectuée. Des entrevues semi-dirigées individuelles et en couple ont été faites auprès de 39 individus porteurs ainsi que 11 professionnelles de la santé et des services sociaux. Les besoins décisionnels identifiés par les participants de l’étude incluent l’inconfort décisionnel, les rôles dans la prise de décision, les étapes de la prise de décision, la nature dynamique du processus décisionnel et les réseaux de soutien disponibles. Cette étude a permis de mettre en évidence une augmentation de l’inconfort décisionnel, particulièrement pour les couples porteurs de l’ataxie récessive spastique de Charlevoix-Saguenay et de la tyrosinémie héréditaire de type 1. À la lumière de ces résultats, des outils d’aide à la décision seront développés afin de répondre aux besoins des couples porteurs de maladies héréditaires récessives. / A national carrier screening program for four recessive diseases (Leigh syndrome, autosomal recessive spastic ataxia of Charlevoix-Saguenay, hereditary motor and sensory neuropathy with or without agenesis of the corpus callosum and hereditary tyrosinemia type 1) known to be relatively more prevalent in some parts of Quebec province is available since 2018. Carrier couples face an important decision-making process regarding their familial planning that can become a significant source of discomfort and potential regrets. Our study aimed to describe the decisional needs of couples carriers of one of the four recessive disorders according to the Ottawa Decision Support Framework. A qualitative descriptive study was conducted, and qualitative individual and joint couple interviews were performed among 39 carrier individuals and 11 health and social care professionals. Decisional needs reported by the participants of this study included decisional conflict, roles in decision-making, decisional stages, dynamics of the decision-making process and available support. Decision-making process of all four disorders, but particularly autosomal recessive spastic ataxia of Charlevoix-Saguenay French-Canadian and hereditary tyrosinemia type 1 carriers, was associated with increased decisional conflict. Considering these results, patient decision aids will be designed to meet the needs of carrier couples.