Health-related quality of life in primary ciliary dyskinesia (PCD): Translation, cross- cultural adaptation and content validation of the Italian QOL-PCD questionnaire

Imagine a tiny, microscopic hair inside the human body that acts like a broom, sweeping mucus and germs out of the lungs and sinuses. In a rare genetic condition called primary ciliary dyskinesia, these hairs are broken or move the wrong way, so they cannot clean the airways. This leads to a lifetime of chronic coughs, frequent lung infections, and a heavy daily burden of treatments that can wear down a person's physical health and emotional well-being. While doctors can measure how well a patient's lungs are working with machines, those numbers do not tell the whole story of what it feels like to live with this disease every day. To truly understand the impact of the illness, researchers need to ask the patients themselves how they are doing, using tools called patient-reported outcome measures. These questionnaires capture the personal experience of symptoms and treatment, which is essential for developing better care and testing new medicines.

For years, scientists have used a specific questionnaire designed just for people with this condition to gather that personal information, but it was only available in English and a few other languages. This meant that Italian-speaking patients had no way to share their experiences in their own language, leaving a gap in both daily medical care and international research. A team of researchers at the Bambino Gesù Children's Hospital in Rome set out to fix this by taking the original English questionnaire and carefully translating it into Italian. Their goal was not just to swap words, but to ensure the questions made sense culturally and emotionally to Italian families, children, and adults living with the disease.

The process began with a rigorous translation method. Two experts who knew both English and Italian, and who understood the medical details of the condition, translated the questions from English into Italian. They then held a meeting with one of the original creators of the questionnaire to discuss any differences and ensure the meaning stayed true to the original. Next, two different translators, who had never seen the original English version, translated the new Italian draft back into English. This back-translation allowed the team to check if the Italian version still carried the exact same meaning as the first English one. Once the text was finalized, the researchers tested it with real people. They sat down with twenty participants, including five parents, five children, five teenagers, and five adults, all of whom had the condition or cared for someone who did.

During these sessions, the participants read the questions out loud and explained what they thought each one meant, a method known as "thinking aloud." This helped the researchers see if any words were confusing or if the questions felt strange in an Italian context. The feedback was very positive. The participants found the instructions clear and the questions relevant to their daily lives. Only a few minor changes were needed, such as simplifying a word for "chest" to make it easier for young children to understand. After five interviews in each group, the researchers stopped because no new problems or confusing points were coming up, indicating that the translation was complete and ready for use.

To be absolutely sure the questions were medically and culturally appropriate, three independent experts in the field reviewed the final Italian versions. They rated every single question to see if it was relevant to the condition. The results showed that the experts almost completely agreed on the value of the questions. For the versions used by children, teenagers, and adults, the agreement was nearly perfect. The version for parents also scored very high, with only a couple of questions showing slight disagreement, which the team resolved by clarifying the wording. These specific questions involved topics like feeling comfortable blowing one's nose in front of others or describing a feeling of congestion in the chest, which can be interpreted differently across cultures. The experts confirmed that the final Italian wording captured these complex feelings accurately.

The study concludes that the Italian version of the questionnaire is now a valid and reliable tool. It has been successfully adapted so that Italian-speaking patients and their families can use it to describe their health and quality of life just as accurately as English speakers can. This achievement opens the door for Italian patients to participate in international clinical trials and allows doctors to better understand the daily struggles of their patients. While the researchers note that further studies are needed to test how the questionnaire performs over time and how well it detects changes when new treatments are used, the work done here provides a solid foundation. It ensures that the voices of Italian patients will be heard clearly in the global effort to improve care for this rare and challenging condition.