Stefanie Witt

Development and pilot-testing of a condition-specific instrument to assess the quality-of-life in children and adolescents born with esophageal atresia

The survival rate of children with esophageal atresia has today reached 95%. However, children are at risk of chronic morbidity related to esophageal and respiratory dysfunction, and associated anomalies. This study describes the pilot testing of a condition-specific health-related quality-of-life instrument for children with esophageal atresia in Sweden and Germany, using a patient-derived development approach consistent with international guidelines. Following a literature review, standardized focus groups were conducted with 30 Swedish families of children with esophageal atresia aged 2-17 years. The results were used for item generation of two age-specific pilot questionnaire versions. These were then translated from Swedish into German with considerations of linguistic and semantical perspectives. The 30-item pilot questionnaire for children aged 2-7 years was completed by 34 families (parent report), and the 50-item pilot questionnaire for children aged 8-17 years was completed by 52 families (51 child report, 52 parent report), with an overall response rate of 96% in the total sample. Based on predefined psychometric criteria, poorly performing items were removed, resulting in an 18-item version with three domains (Eating, Physical health and treatment, Social isolation and stress,) for children aged 2-7 years and a 26-item version with four domains (Eating, Social relationships, Body perception, and Health and well-being) for children aged 8-17 years. Both versions demonstrated good internal consistency reliability and acceptable convergent and known-groups validity for the total scores. The study identified specific health-related quality-of-life domains for pediatric patients with esophageal atresia, highlighting issues that are important for follow-up care. After field testing in a larger patient sample, this instrument can be used to enhance the evaluation of pediatric surgical care.

An ICF-CY-based approach to assessing self- and observer-reported functioning in young persons with achondroplasia – development of the pilot version of the Achondroplasia Personal Life Experience Scale (APLES)

Abstract Purpose: 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.

Quality of Life in Parents of Children Born with Esophageal Atresia

INTRODUCTION  For parents of chronically ill children, the experiences of caregiving are challenged by increased demands and restrictions imposed by their childs disease. Therefore, this study aims to investigate the quality of life (QoL) in parents of children born with esophageal atresia (EA) and to explore associated factors. METHODS  Parents of children (2-17 years) with EA recruited from two German pediatric hospitals participated in this cross-sectional study about QoL in EA. Data on QoL, sociodemographic, and clinical characteristics were collected from parents and children. Parental QoL was assessed using the Short-Form 8 questionnaire, containing eight dimensions aggregated to a mental and physical health summary score which was compared with German representative population norms. RESULTS  Forty-nine families (47 mothers and 40 fathers) participated in the study. Compared with German population norms, both mothers and fathers showed significantly lower mental component score (MCS) but no differences in physical component score (PCS). Within the study sample, parents of younger children (2-7 years), severe EA, or high school/kindergarten absence had lower MCSs compared with those with older, less severe, and less absent children. Parental female gender was associated with lower MCS as well as lower family income. CONCLUSION  Parents of children with EA reported lower mental health compared with the general population, especially mothers, and parents of young children, with severe EA, and a frequent school/kindergarten absence. This shows that parents may experience substantial emotional burden and highlights the need for psychosocial support for EA parents, especially in the first years.

Generic Health-Related Quality of Life after Repair of Esophageal Atresia and Its Determinants within a German–Swedish Cohort

Aim Despite advances of outcomes of esophageal atresia (EA), knowledge on patients’ health‐related quality of life (HRQoL) is sparse. Due to the heterogeneity of EA, larger cohorts need to be investigated to ensure reliability of data. Aim was to determine generic HRQoL after EA repair in a Swedish‐German cohort. Patients and Methods Ethical approval was obtained. A total of 192 patients (2–18 years; 134 Swedish; 58 German) were included. Clinical data were reviewed. EA was classified in “severe” and “mild/moderate.” Pediatric Quality of Life Inventory 4.0 Generic Core Scale (PedsQL 4.0) was used in appropriate versions (2–7 years; 8–18 years; self‐ [SR] and proxy report [PR]) to determine generic HRQoL. Results Swedish and German samples were clinically and demographically comparable. HRQoL was lower in “severe EA” versus “mild/moderate” (2–18 years; total score; PR 85.6 vs. 73.6; p < 0.001) and Gross A versus Gross C type EA (2–7 years; total score; PR 61.0 vs. 79.3; p = 0.035). Total HRQoL was higher in the Swedish versus German sample (2–18 years; total score; PR 82.3 vs. 72.7; p = 0.002). HRQoL was impaired in the German sample versus healthy population (2–18 years; total score; PR 72.7 vs. 82.7; p = 0.001). In German patients (8–18 years), HRQoL was higher in SR versus PR (80.7 vs. 74.7; p = 0.044). Patients’ age and presence of VACTERL association or isolated anorectal malformations did not affect HRQoL. Various differences were detected regarding different dimensions of PedsQL 4.0. Conclusion In this first international study, we found several differences in perception of generic HRQoL. HRQoL appears to be determined by the type of EA and severity rather than patients’ age or the presence of typical associated malformations. Country‐specific differences may be culturally dependent, but further investigations are suggested. A condition‐specific instrument validated for EA may provide additional insights.

Piloting and psychometric properties of a patient-reported outcome instrument for young people with achondroplasia based on the International Classification of Functioning Disability and Health: the Achondroplasia Personal Life Experience Scale (APLES)

Abstract Background: This study describes the psychometric testing of the Achondroplasia Personal Life Experience Scale (APLES): a new disease- and functioning-specific health-related quality of life instrument for young people with achondroplasia, which was developed based on the International Classification of Functioning–Children and Youth Version. Method: The qualitative analysis of focus group statements from German patients and parents using the International Classification of Functioning–Children and Youth Version yielded 59 items, which after cognitive debriefing were included in a pilot-test. Psychometric performance was cross-culturally examined in a field- and re-test in Germany and Spain. Results: Cognitive debriefing and pilot-test results suggested to reduce the 59-APLES version to a 35-items version. Field-test data showed acceptable reliability and validity, which further improved after the APLES was shortened to 21 items. Conclusion: Developing a disease-specific instrument within the framework of the International Classification of Functioning allows the universal assessment and comparison of perceived health. Psychometric analysis showed that the APLES fulfills psychometric quality standards and provides a way to assess health-related quality of life from self- and observer report in young persons with achondroplasia. Further studies may use the instrument in clinical research and practice to understand perceived burden and to optimize care. Implications for Rehabilitation Health-related quality of life instruments are useful tools to include in clinical research and/or practice to evaluate treatment effects directly from the patient’s perspective. Cross-culturally developed health-related quality of life measures that are based on the International Classification of Functioning Disability and Health provide the opportunity to assess the health status in a standardized language and to compare it across countries and health professions. All four components of the International Classification of Functioning Disability and Health – Child and Youth Version (“Body Functions & Structures”, “Activities and Participation”, “Environmental Factors”, and “Personal Factors”) have been shown to be relevant in assessing health-related quality of life and functioning in young achondroplasia patients. Results underline the important aspects associated with disproportionate short stature, emphasizing the benefits of a disease-specific instrument.