1. Objectifs

Intentions :
«Les études présentées dans cette thèse [par articles] visent à 1) étudier l’utilisation et les connaissances des tests génétiques par les pédiatres chez les enfants avec un RGD ou un TSA, 2) explorer les attentes des pédiatres concernant les impacts potentiels des tests génétiques chez ces patients et 3) examiner les perspectives des parents concernant les impacts attendus et réels de ces tests génétiques.» (p. i)

2. Méthode

Échantillon/Matériau :
L’échantillon de la première étude est composé de 141 pédiatres québécois, dont 58% sont des femmes. L’échantillon du deuxième article est composé de 73 enfants qui ont été vus par des pédiatres du centre du développement du CHU Sainte-Justine (Montréal). L’échantillon de la troisième étude est composé de 57 parents (43 mères et 14 pères) qui ont été recrutés auprès du même centre hospitalier. L’échantillon de la quatrième étude est composé de 39 parents (14 pères et 25 mères), recrutés auprès de la clinique mère-enfant du CHU Sainte-Justine.

Instruments :
Questionnaires
Guide d’entretien semi-directif

Type de traitement des données :
Analyse statistique
Analyse de contenu

3. Résumé

The results of the first study show that paediatricians’ «use of tests was influenced by external factors, such as maternal pregnancy. It is understandable to pursue testing in this situation, but this suggests that children with GDD who are seen while their mother is pregnant may have better access to recommended genetic tests.» (p. 64) The results of the second study confirm that genetic «testing is recommended as the first line of investigation for children with developmental disorders. […] However, guidelines for genetic testing are generally developed by physicians and researchers, without parental and patient input.» (p. 93) The third study demonstrates that many «parents are waiting for this test thinking this will finally enable them to understand and help their child. On the other hand, parents also had many concerns. Because of the frequency of abnormal results in these conditions and how these translate into practice, parental expectations may be unrealistically high and are therefore unlikely to be met in the majority of cases.» (p. 127) The results of the fourth study show that «71% reported both positive and negative impacts. Positive impacts included understanding the cause (55%) and receiving information about the condition (45%). CMA results influenced parental answers: many parents considered normal results to be this “good news” and reported this decreased their anxiety and increased their hope for the future; parents reported more positive and negative impacts after receiving an abnormal or uncertain result and were more likely to feel hopeless and to believe that their child’s condition was not amenable to change.» (p. 146)