RESUMEN
Genetic testing is becoming increasingly available for cardiac channelopathies, such as long QT syndrome and Brugada syndrome, which can lead to sudden cardiac death. Test results can be used to shape an individual's medical management and to identify at-risk family members. In our qualitative study, all participants had a personal or family history of a diagnosed cardiac arrhythmia syndrome or sudden cardiac death. Open-ended interviews were conducted individually and in focus groups. Interviews were audio recorded, transcribed verbatim, and analyzed using a qualitative grounded-theory approach. Of 50 participants, 37 described their motivations for pursuing genetic testing for long QT syndrome or another cardiac channelopathy. Participants' motivations included: to find an explanation for a family member's sudden death, to relieve uncertainty regarding a diagnosis, to guide future medical management, to allay concern about children or other family members, and to comply with recommendations of physicians or family members. Perceived reasons not to pursue genetic testing included denial, fear, and lack of information. The genetic counseling and informed consent process can be enhanced by understanding and addressing an individual's internal and external motivations either for or against pursuing genetic testing.
Asunto(s)
Enfermedades Cardiovasculares/genética , Muerte Súbita Cardíaca , Pruebas Genéticas/estadística & datos numéricos , Motivación , Humanos , AnamnesisRESUMEN
Looking and reaching preferences for different-sized objects were examined in 4-5- and 5-6-month-old infants. Infants were presented with pairs of different sized cylinders and preferences were analyzed by age and reaching status. Outcome variables included looking and touching time for each object, first look, and first touch. Significant three-way interactions with age and reaching status were found for both infants' looking and touching duration. Four-5- and 5-6-month-olds with less reaching experience spent more time visually and manually exploring larger objects. In contrast, 5-6-month-olds with more reaching experience spent more time looking at and touching smaller objects, despite a first look and first touch preference for the largest object. Initially, looking and reaching preferences seem to be driven by mechanisms responding to general visual salience independent of an object's potential for manual action. Once reaching skills emerge, infants begin to use visual information to selectively choose smaller, more graspable objects as exploration targets.