Family Engagement in Autism Biomarker Discovery

Family Engagement in Autism Biomarker Discovery

Family Engagement in Autism Biomarker Discovery

Family Engagement in Autism Biomarker Discoverys

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Référence bibliographique [21572]

Yusuf, Afiqah. 2019. «Family Engagement in Autism Biomarker Discovery». Thèse de doctorat, Montréal, Université McGill, Département de psychiatrie.

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1. Objectifs


Intentions :
This thesis by articles is composed of four articles. «The overarching aim of this thesis was to develop and implement a systematic approach for engaging stakeholders in ASD [autism spectrum disorder] biomarker discovery.» (p. i) The aim of the first study is «to assess the extent to which stakeholder engagement has been feasible based on concrete applications from ASD biomarker discovery.» (p. i) «The aim of the [second] study is to validate the Genetic Counseling Outcome Survey (GCOS-24) for use among parents whose child is undergoing genetic testing for ASD by using a large and representative cohort study integrated into routine care pathways.» (p. 68) «The purpose of the [third] study was to examine the predictors of perceived utility of biological testing among parents of a child with ASD.» (p. 91) «The objective of [the fourth] study was to measure knowledge of ASD among families undergoing routine biological testing in ASD by examining the association between knowledge with potential correlates of knowledge namely sociodemographic factors, parental stress and distress, and time since diagnosis among parents whose child with ASD is undergoing clinical genetic testing.» (p. 132)

Questions/Hypothèses :
In the third study, it was hypothesized «that around the time of ASD diagnosis, higher levels of child severity of symptoms, lower levels of child emotional and behavioural functioning, greater parental stress, and higher levels of family functioning and family-centered care will be associated with higher levels of perceived utility of biological testing among parents of a child with ASD.» (p. 99) In the fourth study, it was «hypothesized that lower parental stress and distress, and longer time since diagnosis would correlate with greater knowledge of ASD.» (p. 136)

2. Méthode


Échantillon/Matériau :
The first article is a scoping review. The research team «searched Medline, CINAHL, PsycINFO, and Embase using a comprehensive list of search terms. Author lists and references were also cross-referenced for potentially relevant articles.» (p. 45) In the end, 7 original research studies were kept. For the second study, «[f]amilies were recruited into the Genome to Outcome (G2O) Cohort. […] Families eligible for the G2O Cohort were those with children between 0 to 18 years of age diagnosed with a neurodevelopmental condition for which CMA [chromosomal microarray] testing was recommended. […] Referrals to the G2O Cohort were made by 11 clinicians across several departments (Genetics, Child Development, and Psychiatry) in two hospitals: the McGill University Health Center and Douglas Mental Health University Institute.» (p. 69) Participants were 113 families. The third and fourth studies also recruited participants from the G2O Cohort. In the third and fourth studies, 85 families participated.

Instruments :
- Guide d’entretien
- Questionnaires

Type de traitement des données :
Analyse de contenu
Analyse statistique

3. Résumé


Le premier article «révéla des exemples […] d’engagement de familles dans trois domaines : […] la compréhension des valeurs de la communauté ciblée, […] le développement des priorités à long-terme avec la communauté, et […] la collaboration dans le développement de projets de recherche. [L’autrice a] conclu que l’avancement de l’engagement familial au sein de la découverte de biomarqueurs en autisme demande le développement d’outils pouvant mesurer les prédicteurs, modificateurs, et les résultats de l’engagement parmi un grand échantillon de familles étant au sein du système de soins en autisme.» (p. iv-v) Selon le deuxième article, «[l]’autonomisation était inversement corrélée au stress et à la détresse des parents. Ces résultats suggèrent que l’autonomisation est une mesure des résultats pertinente de l’intégration de la découverte de biomarqueurs, dans cette population.» (p. v) Les résultats des articles 3 et 4 montrent «que des niveaux de fonctionnement de l’enfant plus bas et des niveaux de fonctionnement de la famille plus élevés étaient corrélés à une plus grande utilité perçue pour les tests biologiques. [L’autrice a] constaté qu’une plus grande détresse parentale était associée à des connaissances plus approfondies sur les TSA [troubles du spectre de l’autisme]. Dans l’ensemble, ces quatre manuscrits soutiennent la faisabilité de l’engagement de la famille dans la découverte de biomarqueurs, ainsi que son intégration au sein des parcours de services menant au diagnostic.» (p. v)