Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency)

Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Patients With Classical Homocystinuria

Patients, parents of young / handicapped patients, and experts will be interviewed to collect contents relevant for HrQoL in CBS deficiency. Based on these data, a questionnaire will be developed and tested for comprehensibility in patients and parents of young / handicapped patients. A final questionnaire version will be tested for psychometric criteria including validity and reliability.

Inclusion criteria

• Patients with CBS deficiency from age 8 years
• Parents of patient(s) < 18 years with cognitive impairment
• Parents of patients between age 4 and 7
• Experts on CBS deficiency
• Able to give informed consent as documented by signature

Exclusion criteria

- Sufficient command of the German or the English language