Health-related Quality of Life Working Group

  • Description
  • Description

    The Quality of Life working group examines the health or health-related quality of life (HrQoL), which according to the WHO includes physical, mental, social and emotional aspects.

    A special interest is the development and validation of questionnaires to measure HrQoL esp. for children, adolescents and young adults with chronic and rare diseases. Within national and international projects (see below) these instruments have been and are to be (simultaneously) developed, validated and used to learn more about the health and functioning of patients and parents.

    Epidemiological studies are conducted to analyze HrQoL in representative populations and clinical studies focus on changes in quality of life for example in special treatment settings.

  • Ongoing

    Quality of life and coping mechanisms of parents of children with an Andrenogenital Syndrome diagnosed during the neonatal screening (06/2018-06/2019)

    In a retrospective mixed-method approach we want to assess the parental quality of life of parents with children with Adrenogenital Syndrome (AGS), as well as their coping mechanisms and needs. Qualitative and quantitative data is collected to obtain a comprehensive picture of the parents’ wellbeing. Quantitative data on health related quality of life, psychosocial stresses and strains is collected by using validated questionnaires (ULQIE, CHIP, need-scale of parents with chronically ill children). Qualitative data is collected by telephone interviews to gain more knowledge about the outstanding situation and reactions as well as the feeling of the parents after getting the positive screening result. Upon completion of the 12-month study, in-depth knowledge of the parent’s needs, interests and requests is used to develop target group oriented psychosocial interventions for the affected parents.

    “Sicherer Hafen”- Save Haven- Scientific monitoring and evaluation of the effectiveness of a modularized prevention program for disadvantaged families (01/2017-03/2020)

    The aim of the study is the scientific monitoring of the prevention program ‘’Sicherer Hafen’’ (funded by the Berndtsteinkinder foundation) and to evaluate its efficacy. Based on the results of the pilot study optimizing approaches can be generated. Furthermore, it is assessed whether the modularized offer contributes to an increase of parental competencies, child and parental quality of life and to a positive parent-child interaction, which promotes the child development. At several times of measurement, wellbeing, possible burdens, satisfaction with the course offer and with the individual counseling are assessed with a written questionnaire. Besides the quantitative data collection, the parent-child interaction is qualitatively evaluated.

    ZSE-DUO- Dual guide structure to clarify unclear diagnoses in centers for rare diseases (10/2018-10/2021)

    The aim of the study is to evaluate the implementation of a new form of care for patients suspected of having a rare disease. This new form of care should increase the diagnostic success rate, reduce the time until correct diagnosis and should facilitate a successful transition of the affected people into regular care. In order to achieve these aims, a dual guide-structure with a somatic-specialist guide and a psychiatric-somatic guide is established at the centers for rare diseases.
    This prospective cohort study includes a control and intervention group. The 12-month study period is divided into two phases. In the first phase, participating patients are treated by the somatic guide only (standard care, control group). In the second phase, a psychiatric-somatic guide is additionally included in the treatment process of the patient (new form of care, intervention group).
    Within the whole project, the Quality of Life working group conducts qualitative phone interviews at two measurement points (before and after 12 month of treatment) with the patients of the control and intervention group.

    Children affected by rare disease and their families-- network-- CARE-FAM-NET (10/2018-10/2021)

    Main goals of the CARE-FAM-NET project is the implementation, scientific monitoring and transfer of a psychosocial intervention program for children and adolescents with rare diseases and their families to improve mental health and quality of life of children with rare diseases and their families.
    The project is designed as a prospective, randomized controlled multi-center study with a four group-factorial design of: (1) CARE-FAM-Intervention (face to face); (2) online intervention WEB-CARE; (3) combination of both interventions (CARE-FAM and WEB-CARE) and (4) a control group.
    The CARE-FAM intervention is a cross-sectoral, family-oriented psychosocial face-to-face intervention. It is based on needs analysis of the affected families. The WEB-CARE intervention is web-based and is based on principles of the cognitive-behavioral writing therapy.
    Within the whole project, the Quality of Life working group assesses the current access routes to psychosocial care and their obstacles and barriers from the point of view of the affected people and from professionals of various health and education professions, in an interview and questionnaire-based approach. The aim of the subproject is the analysis and improvement of pathways-to-care (PTC) approaches to secondary and tertiary-preventive psychosocial interventions.

    Pretend Play – Play intervention for the improvement of health-related quality of life of children with cancer (2016/10 – 2018/12)

    The study aims to improve the health-related quality of life, empower and support the autonomy of children with cancer between 3 and 10 years old through a 2-month play intervention. Besides the play intervention, a qualitative and quantitative evaluation will done before, during and after the therapy. The play intervention will last about two months with eight single sessions. In case of positive outcomes, an expansion to other cancer diagnoses, as well as an international study (Sweden, Germany, USA) is aimed.


    Quality of life in children and adolescents with esophageal atresia - cultural adaptation and validation of a disease specific questionnaire (2015/1 -2017/1)

    This project aims to increase the knowledge of the quality of life (QoL) of children and adolescents born with esophageal atresia (EA). In order to learn more about the specific situation of children and adolescents with EA, a condition-specific QoL questionnaire will be developed simultaneously in Sweden and Germany according to the methodology outlined by the U.S. Food and Drug Administration.

    The process includes the investigations of subjective health related quality of life experiences and coping strategies in children and adolescents born with EA from the child’s and parents’ perspectives in a qualitative approach via focus groups and cognitive interviewing. A field and re-test will be done in the second phase of the study to test the psychometric properties quantitatively and compare it to validated QoL questionnaires like the KIDSCREEN (generic) and DISABKIDS (chronic generic) questionnaire. Additionally, the PedsQL™ Family Impact Module will be utilized to measure the impact of EA on parents and families by examining family functioning and parent health related quality of life.

    This project will lead to the first condition-specific instrument for esophageal atresia and hence contribute to the improved understanding of long-term condition-related consequences from the child’s and parents’ perspectives. With an objective, reliable and valid patient reported outcome measure, pediatric surgical care can be supplementary evaluated to rates in mortality and morbidity. Enhanced knowledge will contribute to future targeted interventions to further improve pediatric surgical care.

    Linguistic validation of the QoLISSY and APLES instruments for the cross cultural health-related Quality of Life and Functioning assessment in children and adolescents with Achondroplasia(2016/02 – 2016/12)

    Achondroplasia is the most common form of disproportionate short stature. It is a result of an autosomal dominant mutation in the fibroblast growth factor receptor 3 gene (FGFR3), which causes an abnormality of cartilage and bone formation. BioMarin Pharmaceutical is currently developing and testing a natural human peptide, C-type natriuretic peptide (CNP) to treat achondroplasia (BMN-111). BMN-111 is being developed for children and Phase 1 trial has been completed, as well as Phase 2 trial in children from 5 years to 14 years old.

    BioMarin Pharmaceutical is now organizing the Phase 3 Trial, which will include the use of a Patient-Reported Outcome (PRO) instrument. PROs are defined as “any report of the status of a patient’s health condition that comes directly from the patient, without interpretation of the patient’s response by the clinician or anyone else”.

    Another study, funded by BioMarin reviewed and tested different instruments to use in this trial, among them the generic PedsQL and the disease specific QoLISSY instruments. A new achondroplasia-specific instrument, the Achondroplasia Life Experience Scale (APLES), has also been included in this study. After finishing Phase 1 of the above mentioned PRO study, a decision was made to include the PEDSQoL, QoLISSY and APLES in the planned phase 3 trial in Australia, France, Germany, Japan, Spain, Turkey, UK and USA. Because the QoLISSY and APLES instruments are not available in the languages of these countries, a linguistic validation is the first needed step towards a cross cultural validation procedure.

    APLES – The Achondroplasia Personal Life Experience Scale – Development of a Questionnaire to Assess Quality of Life, Burden of Disease and Functionality of Children with Achondroplasia (2015/1-2015/12)

    This study aimed to determine disease-specific and patient-reported instruments, which reflect the functionality and needs of children with achondroplasia. The existing QoLISSY questionnaire examines the health related quality of life (HrQoL) of young patients with achondroplasia, but does not take the disease-specific burden and resources into account. Therefore a new instrument was developed, implemented and validated. This new instrument, APLES (Achondroplasia Life Experience Scale), examines the HrQoL, burden of disease and functionality of children with achondroplasia.

    Patient-reported Outcome selection and validation for Achondroplasia (2015/1-2015/12)

    This project aims to select the most appropriate Patient Reported Outcome (PROs) instrument that assesses domains of interest for achondroplasia patients and their parents, as well as providing insights of the impacts of treatment that improve patients’ quality of life. Furthermore, the psychometric properties of these tools in children with achondroplasia will be assessed.

    Health-related Quality of Life of short statured children in the course of growth hormone treatment (2013/1 – 2016/10)

    With the availability of the internationally developed QOLISSY (Quality of Life Questionnaire for Short Statured Youth), it is now possible to examine changes in the quality of life of children and adolescents in the context of growth hormone treatment from the patients' own view and from the parental perspective. Within a multicenter, longitudinal study in Germany, relevant clinical, psychosocial and quality of life-related data will be collected from children and examined before and 1 year after the start of the growth treatment. The study focuses on changes in the QOLISSY quality of life questionnaire over time. Short statured children (GHD & SGA) who visit cooperating clinics and plan to undergo growth hormone are examined. Patients diagnosed with Idiopathic Short Stature (ISS), a group who are not normally treated with growth hormones, will serve as a control group in this prospective observational study.

  • Selected publications

    • Quitmann, J., Bloemeke, J., Silva, N., Bullinger, M., Witt, S., Akkurt, I., Dunstheimer, D., Vogel, C., Böttcher, V., Kuhnle Krahl, U., Bettendorf, M., Schönau, E., Fricke-Otto, S., Keller, A., Mohnike, K., Dörr, H. (2019). Quality of life of short-statured children born small for gestational age or idiopathic growth hormone deficiency within one year of growth hormone treatment. Frontiers in pediatric endocrinology. doi: 10.3389/fped.2019.00164. Quitmann, J., Bloemeke, J., Dörr, HG., Bullinger, M., Witt, S., Silva, N. (2019). First year predictors of health-related quality of life changes in short statured children treated with human growth hormone. Journal of Endocrinological Investigation. doi: 10.1007/s40618-019-01027-4.
    • Bloemeke, J., Silva, N., Bullinger, M., Witt, S., Dörr, HG., Quitmann, J. (2019). Psychometric properties of the quality of life in short statured youth (QoLISSY) questionnaire within the course of growth hormone treatment. Health and Quality of life outcomes. doi: 10.1186/s12955-019-1118-9.
    • Bullinger M., Bloemeke, J., Mericq V., Sommer, R. Gaute, X., Ross, JL., Miles Y., Permuy, J., Gagliardi, P., Damaso, L., Mauras, N. (2018). Quality of life in adolescent boys with idiopathic short stature: positive impact of growth hormone and aromatase inhibitor. Hormone Research in Peadiatrics. doi: 10.1159/000496353.
    • Witt, S., Bullinger, M., Quitmann, J. H. (2018). Emotionsregulation, psychische Auffälligkeiten und Lebensqualität von Kindern mit endokrinem Kleinwuchs. Päd Praxis. 90, 2, S. 200-210
    • Witt, S., Dellenmark-Blom, M., Dingemann, J., Dingemann, C., Ure, B. M., Gomez, B., Bullinger-Naber, M., Quitmann, J. H. (2018). Quality of Life in parents of children born with esophageal atresia. European Journal of Pediatric Surgery. doi: 10.1055/s-0038-1660867.
    • Witt, S., Escherich, G., Rutkowski, S., Kappelhoff, G., Frygner-Holm, S., Russ, S., Bullinger, M., Quitmann, J. H. (2018) Exploring the potential of a pretend play intervention in young patients with leukemia. Journal of Pediatric Nursing. doi: 10.1016/j.pedn.2018.11.010.
    • Bloemeke, J., Sommer, R., Witt, S., Dabs, M., Badia, F., Bullinger, M., Quitmann, J. (2018). 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). Disability and Rehabilitation. doi: 10.1080/09638288.2018.1447028.
    • Dellenmark-Blom, M., Dingemann, J; Witt, S; Quitmann, J; Jönnson, L; Gatzinsky, V; Chaplin, J; Bullinger, M; Flieder, S; Ure, B; Dingemann, C., Abrahamsson, K. (2018). The Esophageal-atresia-Quality-of-life questionnaires: feasibility, validity and reliability in Sweden and Germany. Journal of Pediatric Gastroenterology and Nutrition. doi: 10.1097/MPG.0000000000002019.
    • Witt, S., Dellenmark-Blom, M., Dingemann, J., Dingemann, C., Ure, BM., Gomez, B., Bullinger, M., Quitmann, J. (2018). Quality of Life in Parents of Children Born with Esophageal Atresia. European Journal of Pediatric Surgery. doi: 10.1055/s-0038-1660867.
    • Sommer, R., Blömeke, J., Dabs, M., Witt, S., Bullinger, M., Quitmann, J. (2017). 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). Disability and Rehabilitation, 39(24):2499-2503. doi: 10.1080/09638288.2016.1226969.
    • Dellenmark-Blom, M., Abrahamsson, K., Quitmann ,JH., Sommer, R., Witt, S., Dingemann, J., Flieder, S., Jonsson, L., Gatzinsky, V., Bullinger, M., Ure, BM., Dingemann, C., Chaplin, JE. (2017). Development and pilot-testing of a condition-specific instrument to assess the quality-of-life in children and adolescents born with esophageal atresia. Diseases of the Esophagus, 1;30(7):1-9. doi: 10.1093/dote/dox017.
    • Quitmann, J., Giammarco, A., Maghnie, M. et al. (2017). Validation of the Italian Quality of Life in Short Stature Youth (QoLISSY) questionnaire. Journal of Endocrinological Investigation, 40(10):1077-1084. doi: 10.1007/s40618-017-0667-1.
    • Witt, S., Rohenkohl, A., Bullinger, M., Sommer, R., Kahrs, S., Klingebiel, KH., Klingebiel, R., Quitmann, J. (2017). Understanding, Assessing and Improving Health-Related Quality of Life of Young People with Achondroplasia- A Collaboration between a Patient Organization and Academic Medicine. Pediatric Endocrinology Reviews, 15 (Suppl 1):109-118. doi: 10.17458/per.vol15.2017.

    • Witt, Stefanie (ongoing) Lebensqualität in Familien mit Kindern mit seltenen Erkrankungen (Doctoral dissertation, non-medical PhD program at the University Hospital Hamburg-Eppendorf)
    • Blömeke, Janika (ongoing) Assessing Health-Related Quality of Life in Rare Pediatric Growth Disorders (Doctoral dissertation, non-medical PhD program at the University Hospital Hamburg-Eppendorf)
    • Pakulat, Bastian (2018) Die Auswirkungen eines modularisierten Interventionsprogramms für (werdende) Eltern (Bachelor thesis, Psychology)
    • Valdez, Richelle (2018) Psychometric performance of the QoLISSY Questionnaire in a Randomized Clinical Trial for Grwoth Hormone Treatment in Short Stature Youth in the United States and in Chile (Master thesis, Health Science)
    • Narvaez Guevara, Cristian Giuseppe (2018) Improvement of Quality of Life (QoL) in Children with Cancer Using Play Therapies – A Systematic Literature Review (Bachelor thesis, Health Science)
    • Kuckuck, Susanne (2018) Eltern-Kind Perspektiven bei der Beurteilung der gesundheitsbezogenen Lebensqualität von Kindern mit Ösophagusatresie (Bachelor thesis, Psychology)
    • Jüttner, Laurine (2018) Auswertung der psychischen Gesundheit bei an Ösophagusatresie erkrankten Kindern aus Eltern- und Patientensicht. Eine empirische Untersuchung im Rahmen der EA-QoL Studie (Bachelor thesis, Psychology)
    • Kahl, Julia (2017) Gesundheitsbezogene Lebensqualität von Eltern eines Kindes mit Ösophagusatresie (Bachelor thesis Child Education and Development)
    • Glombig, Benjamin (2017) Psychometrische Analyse eines Fragebogens zur Erfassung der gesundheitsbezogenen Lebensqualität von Kindern und Jugendlichen mit angeborener Ösophagusatresie (Bachelor thesis, Psychology)
    • Kolb, Beate (2017) Gesundheitsbezogene Lebensqualität in Familien mit kleinwüchsigen Kindern. Selbst- und Elternbetreuung sowie Auswirkungen auf die elterliche Lebensqualität am Beispiel Achondroplasie (Master thesis Applied Family Sciences)
    • Heiser, Maike (2017) Unterschiede in den Einschätzungen von Müttern und Vätern bezüglich der gesundheitsbezogenen Lebensqualität ihres Kindes mit Ösophagusatresie und die Relevanz für das ärztliche Gespräch (Bachelor thesis, Health Science)
    • Riebesel, Bianca (2017) Lebensqualität von Eltern mit Kindern mit seltenen Erkrankungen. Eine systematische Übersichtsarbeit (Bachelor thesis Child Education and Development)