Article

Achondroplasia is the most common disproportionate short stature which
impacts patients' well-being. Little is known about the burden of disease in
terms of functioning of patients and few disease-specific patient-reported
outcome (PRO) measures exist. To understand the consequences of achondroplasia,
the objective of the study was to develop an achondroplasia-specific PRO tool.
METHOD: Focus group discussions including 34 German patients (age 8-18 years) and
21 parents were conducted and qualitatively analyzed. To identify relevant
concepts, statements were coded according to the International Classification of
Functioning, Disability and Health: Children & Youth version (ICF-CY). Upon
condensation, relevant statements were reformulated as items. RESULTS: 1950
statements related to 125 ICF-CY categories were identified. After condensation
and prioritization, 59 items were retained. These were generated based on the
ICF-CY domains environmental factors (27 items), activities and participation (18
items), body functions (9 items), and body structures (5 items). CONCLUSIONS: A
new instrument, the Achondroplasia Personal Life Experience Scale (APLES) to
assess burden of disease and functioning from the patients perspective of
children and adolescents with achondroplasia has been developed in its pilot
version based on the classification of the ICF-CY. Psychometric performance of
the APLES is currently being examined. Implications for Rehabilitation Using the
ICF-CY within the development of a disease-specific instrument to assess burden
of disease and functioning provides guidance for clinicians and researchers in
the selection of appropriate instruments complying with ICF categories.
Qualitative research based on focus group interviews is an effective method to
elicit experiences, beliefs, points of view, understandings, perceptions,
impressions, needs and concerns as well as attitudes from the perspective of the
individuals on a specific topic such as functioning. Direct assessment of the
patient perspective is necessary to thoroughly understand a patient's experience
of disease and treatment, the impact on their functioning and relevant
health-care needs. Including the perspective of the patient and its family is an
important component in the provision of health-care services. Patient-reported outcomes are not only important for the development of interventions and the use
in clinical trials but can also be used in medical decision-making processes.
- Affection congénitale - nanisme - Echelle

Langue : ANGLAIS