A patient empowerment program for primary immunodeficiency improves quality of life in children and adolescents.

To assess a patient empowerment program (PEP) for children/adolescents with primary immunodeficiency (PID) on IgG replacement therapy regarding quality of life (QoL) in patients and proxy. Health-related QoL was assessed using KIDSCREEN-27 and DISABKIDS-37 before and 6 months after PID-PEP kids in 19 children/adolescents and their parents. The following three dimensions of the KIDSCREEN-27 significantly increased in children/adolescents after PID-PEP kids as compared with baseline: Psychological Well-Being, Parents & Autonomy and School Environment.

Growth hormone treatment in children with short stature: impact of the diagnosis on parents.

Objectives: This prospective multicenter study aimed (1) to examine changes in parent-reported health-related quality of life (HRQOL) of children with short stature and the effects of the children's condition on parents themselves within the first year of human growth hormone (hGH) treatment and (2) to predict based on main and interaction effects of children's HRQOL and increase in height.

Methods: A total of 110 parents of children aged 4-18 years, diagnosed with idiopathic growth hormone deficiency, small for gestational age, or idiopathic short stature, were recruited from 11 participating German pediatric endocrinologists and asked to fill out the short stature-specific Quality of Life in Short Stature Youth (QoLISSY) Questionnaire before hGH treatment was initiated and one year later.

Results: Negative effects of the children's short stature on the parents decrease over time, independent of diagnosis and treatment status.

Psychometric Validation of the Haemo-QOL-A in Participants with Hemophilia A Treated with Gene Therapy.

Purpose: The hemophilia-specific health-related quality of life (HRQOL) questionnaire (Haemo-QOL-A) is validated for detecting QOL changes following standard therapy for hemophilia A, but has not been rigorously evaluated after gene therapy. This post hoc analysis evaluated the psychometric properties of Haemo-QOL-A in adult people with severe hemophilia A (PWSHA) receiving valoctocogene roxaparvovec (AAV5-hFVIII-SQ) in 2 clinical trials (phase 1/2, NCT02576795; phase 3, NCT03370913).

Patients And Methods: Adult PWSHA (factor VIII levels ≤1 IU/dL) received 1 AAV5-hFVIII-SQ infusion (6×10 vg/kg).

[Quality of Life and Experienced Distress of Patients Suspected of having a Rare (Chronic) Health Condition - Initial Findings from the ZSE-DUO Study].

Objective: Patients suspected of having a rare (chronic) health condition have often gone a long way within the healthcare system. To date, little is known about the health-related quality of life of this group of patients. The study aims to describe the health-related quality of life and the perceived distress of patients suspected of having a rare (chronic) health condition and compare the results with standard values of the German population.

Factors of family impact in a Swedish-German cohort of children born with esophageal atresia.

Background: After repair of esophageal atresia (EA), childhood survivors commonly present with digestive and respiratory morbidity, and around 55% have associated anomalies. Although it is known that these problems can reduce health-related quality of life in children with EA, less is understood about the impact on the family. We aimed to identify factors related to family impact in children with EA.

Quality of Life of Children and Adolescents with Short Stature: The Twofold Contribution of Physical Growth and Adaptive Height-Related Cognitive Beliefs.

This study aimed to examine the health-related quality of life (HrQoL), coping, height-related beliefs, and social support of children/adolescents with short stature, the sociodemographic, clinical, and psychosocial variables associated with HrQoL, and the moderating role of sociodemographic and clinical variables on the associations between psychosocial variables and HrQoL. 114 Portuguese children/adolescents with short stature, aged 8-18 years old, completed the Quality of Life in Short Stature Youth questionnaire and the Satisfaction with Social Support Scale. Regression analyses explained 54% of the variance of HrQoL, with significant main effects of current height deviation and height-related beliefs, and a significant interaction effect between beliefs and diagnosis.

Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study.

Background: In individuals suffering from a rare disease the diagnostic process and the confirmation of a final diagnosis often extends over many years. Factors contributing to delayed diagnosis include health care professionals' limited knowledge of rare diseases and frequent (co-)occurrence of mental disorders that may complicate and delay the diagnostic process. The ZSE-DUO study aims to assess the benefits of a combination of a physician focusing on somatic aspects with a mental health expert working side by side as a tandem in the diagnostic process.

Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany.

Background: Rare diseases occur in early childhood and have a major impact on the quality of life of the affected children and their families. Their need for psychosocial support is considerable, but psychosocial care in Germany is still far from being part of routine care. We interviewed experts to explore how they describe the current pathways to psychosocial care, potential barriers and problems, and possibilities for improvements.

Quality of life and mental health in children and adolescents during the first year of the COVID-19 pandemic: results of a two-wave nationwide population-based study.

Background: The COVID-19 pandemic has disrupted the lives of children and adolescents worldwide. The German COPSY study is among the first population-based longitudinal studies to examine the mental health impact of the pandemic. The objective of the study was to assess changes in health-related quality of life (HRQoL) and mental health in children and adolescents and to identify the associated risk and resource factors during the pandemic.

Parent-child-agreement on health-related quality of life and its determinants in patients born with Esophageal Atresia: a Swedish-German cross-sectional study.

Background: The aim was to compare parent and child-reported health-related quality of life (HRQOL) of children born with esophageal atresia (EA) and determine factors that affect the level of parent-child agreement.

Methods: We included 63 parent-child dyads of children born with EA aged 8-18 from Germany and Sweden. The generic PedsQL 4.

Evaluation of two family-based intervention programs for children affected by rare disease and their families - research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design.

Background: Families of children with rare diseases (i.e., not more than 5 out of 10,000 people are affected) are often highly burdened with fears, insecurities and concerns regarding the affected child and its siblings.

Comorbid depression in medical diseases.

Depression is one of the most common comorbidities of many chronic medical diseases including cancer and cardiovascular, metabolic, inflammatory and neurological disorders. Indeed, the prevalence of depression in these patient groups is often substantially higher than in the general population, and depression accounts for a substantial part of the psychosocial burden of these disorders. Many factors can contribute to the occurrence of comorbid depression, such as shared genetic factors, converging biological pathways, social factors, health behaviours and psychological factors.

Basic Principles of Health-Related Quality of Life in Parents and Caregivers of Pediatric Surgical Patients with Rare Congenital Malformations-A Scoping Review.

Introduction:  The diagnosis of a rare congenital malformation with necessary surgical treatment is an emotionally stressful event in a parent's life and may impact parental health-related quality of life (HrQoL). We aimed to review the literature on HrQoL in parents and caregivers of pediatric surgical patients with rare congenital malformations and summarize the results.

Materials And Methods:  For this scoping review, a literature search in PubMed was conducted from inception to November 21, 2019.

Health-Related Quality of Life Assessment in Children and their Families: Aspects of Importance to the Pediatric Surgeon.

With the growing amount of chronic and rare diseases in childhood that often require lifelong treatment, improvement of health-related quality of life is a major goal in therapy. Therefore, the assessment of health-related quality of life from the patient's perspective as a relevant outcome parameter in clinical practice gained increased recognition. Health-related quality of life measures are still rarely applied in the pediatric practice context, although progress has been made in the development of instruments that are now ready for implementation.

DISABKIDS® in Brazil: advances and future perspectives for the production of scientific knowledge.

Objective: to map the Brazilian scientific production related to the stages of the methodological process for the use of DISABKIDS® instruments and/or forms adapted to Brazil.

Method: scoping review, with searches conducted on10 electronic databases, plus Google Scholar and contacts with researchers, without restriction of period or language.

Results: the mapping identified 90 scientific studies involving 46 instruments.

Psychometric performance of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire in a randomized open-label comparator trial in idiopathic short stature.

Background In addition to increasing linear growth, improvement in health-related quality of life (HRQOL) is an important endpoint in the treatment of short statured youth. Hence, condition-specific psychometric valid instruments that adequately assess HRQOL are needed. We aimed to confirmatorily examine the psychometric performance of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire used in a previously reported prospective randomized open-label trial.

Agreement between mothers', fathers', and children's' ratings on health-related quality of life in children born with esophageal atresia - a German cross-sectional study.

Background: Esophageal atresia (EA) is a rare congenital malformation, which is characterized by the discontinuity of the esophagus. We investigated the agreement between mothers', fathers', and children's' ratings on health-related quality of life (HRQOL) in children born with EA. We aimed to broaden the understanding of subjective experiences of HRQOL from different perspectives.

Measuring Spiritual Well-Being in Brazilian Adolescents with Chronic Illness Using the FACIT-Sp-12: Age Adaptation of the Self-Report Version, Development of the Parental-Report Version, and Validation.

Spiritual well-being is a major issue in health care, but instruments for measuring this construct in adolescents are lacking. This study adapted the 12-item Functional Assessment of Chronic Illness Therapy-Spiritual Well-being Scale (FACIT-Sp-12) for use with Brazilian adolescents with chronic diseases and developed a parental observer-rated version, using an expert panel, back-translation, and cognitive interviews with 72 participants. The psychometric properties of both versions were verified with two- and three-factor models by testing with 212 participants.

Quality of life of children with achondroplasia and their parents - a German cross-sectional study.

Background: Achondroplasia is the most common form of disproportionate short stature and might affect not only the quality of life of the affected child but also that of the parents.

Objectives: We aimed to investigate the quality of life of children with achondroplasia from child- and parent perspective as well as the parental quality of life.

Methods: Forty-seven children with achondroplasia and 73 parents from a German patient organization participated.

Subjective integration and quality of life of Sub-Saharan African migrants in Germany.

Objective: This article presents empirical evidence on the quality of life (QoL) of Sub-Saharan African (SSA) migrants in Germany, exploring its association with subjective integration and the influence of some socio-economic and sociodemographic characteristics.

Study Design: This is a cross-sectional study design using quantitative data from 518 SSA migrants collected across the 16 federal states of Germany, and these data were analysed in this study.

Methods: Association between participants' QoL, measured by the four domains of the Bref version of the World Health Organisation QoL measure, subjective integration and sociodemographic characteristics were evaluated using Pearson product-moment correlations.

Clinical Factors Affecting Condition-Specific Quality-of-Life Domains in Pediatric Patients after Repair of Esophageal Atresia: The Swedish-German EA-QOL Study.

Introduction:  We aimed to identify clinical factors affecting condition-specific health related quality of life (HRQOL) domains in children born with esophageal atresia (EA). This can facilitate preventive care to risk groups of HRQOL impairments.

Materials And Methods:  A total of 124 Swedish and German families of EA children answered the validated EA-QOL questionnaires (response rate 68%), for evaluation of three HRQOL domains in children 2 to 7 years old (53 parents) and four HRQOL domains in children 8 to 17 years old (62 children/71 parents).

A DELPHI study on aspects of study design to overcome knowledge gaps on the burden of disease caused by serogroup B invasive meningococcal disease.

Background: Value assessment of vaccination programs against serogroup B invasive meningococcal disease (IMD) is on the agenda of public health authorities. Current evidence on the burden due to IMD is unfit for pinning down the nature and magnitude of the full social and economic costs of IMD for two reasons. First, the concepts and components that need to be studied are not agreed, and second, measures of the concepts that have been studied are weak and inconsistent.