Page 13 - Let them speak Towards a patient reported outcome measure set for

General introduction
To illustrate the central theme of this thesis, I will present a patient case:
Emma is a 30-year-old woman with fragile X syndrome, a rare
genetic disorder, and mild intellectual disabilities. She has
an appointment with her physician. In the waiting room, she
receives a few questionnaires about her health. As Emma looks
at the questions, she begins to panic. The questionnaires contain
more than 100 items and she has only 10 minutes before her
consultation. Moreover, many questions are overlapping and
irrelevant to Emma (e.g., How often do you engage in vigorous
exercise, such as running or other intense sports?), and only
a few address the anxiety she has been experiencing over the
past few months. Feeling discouraged, she eventually hands
in a blank questionnaire. During the consultation, the physician
focuses on Emma’s physical health, checking her weight, heart
rate, and motor skills. However, he does not ask about her
anxiety. Emma hesitates to mention it, uncertain whether it
is appropriate or how to express it. As the appointment ends,
she leaves feeling unseen and unsupported, her anxiety still
unspoken.
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Figure 1. Patient case: Emma.
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