DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing.

Background: The manifestation of bulbar symptoms, especially swallowing, is important for evaluating disease-modifying therapies for spinal muscular atrophy (SMA). Due to the lack of instruments, the topic is still underrepresented in research.

Objective: This study aimed to develop a tool to monitor swallowing development in children aged 0 to 24 months with SMA.

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.

Caregiving burden and special needs of parents in the care of their short-statured children - a qualitative approach.

Purpose: To explore caregiving burden, health-related quality of life (HRQOL), stress, and individual resources of parents in the care of children with isolated growth hormone deficiency (IGHD) or idiopathic short stature (ISS).

Methods: Focused interview analysis of previously, within the () project, conducted structured focus group discussions (n=7) with parents (n=33) of children with IGHD/ISS aged 4 to 18 years were performed.

Results: 26 out of the 33 parents reported mental stress due to their child's growth disorder.

Caring for a Child with Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening: Parental Health-Related Quality of Life, Coping Patterns, and Needs.

Diagnosing a child by newborn screening with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) causes multiple challenges for the affected parents and the whole family. We aimed to examine the health-related Quality of Life (HrQoL), coping, and needs of parents caring for a child with CAH to develop demand-responsive interventions for improving the psychosocial situation of affected families. In a retrospective cross-sectional design, we assessed HrQoL, coping patterns, and the needs of parents caring for a CAH-diagnosed child using specific questionnaires.

Need for transition medicine in pediatric surgery - health related quality of life in adolescents and young adults with congenital malformations.

Survival rates of patients with visceral congenital malformations have increased considerably. However, long-term morbidity in these patients is high. In the last decades, these circumstances have led to a shift in goals of caretakers and researchers with a new focus on patients' perspectives and long-term morbidity.

Reliability and Validity of the Polish Version of the Esophageal-Atresia-Quality-of-Life Questionnaires to Assess Condition-Specific Quality of Life in Children and Adolescents Born with Esophageal Atresia.

Aim: This study reports the reliability and validity of the Polish version of the Esophageal Atresia Quality of Life (EA-QOL) questionnaires, which were originally developed in Sweden and Germany. Methods: A total of 50 families of children (23 aged 2 to 7, and 27 aged 8 to 17) with EA/TEF (esophageal atresia/tracheoesophageal fistula) participated in the study. The development and validation of the Polish version of the EA-QOL involved forward-backward translation of the survey items following the guidelines for cross-cultural translation, cognitive debriefing and evaluation of psychometric properties, including assessment of internal and retest reliability, linguistic validity, content validity, known-group validity and convergent validity.

[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.

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.

Health-related quality of life experiences in children and adolescents born with esophageal atresia: A Swedish-German focus group study.

Background: Esophageal atresia (EA) is a rare malformation of the esophagus, which needs surgical treatment. Survival rates have reached 95%, but esophageal and respiratory morbidity during childhood is frequent. Child and parent perspectives and cultural and age-specific approaches are fundamental in understanding children's health-related quality of life (HRQoL) and when developing a pediatric HRQoL questionnaire.

Associations between Psychological Problems and Quality of Life in Pediatric Short Stature from Patients' and Parents' Perspectives.

Short stature has been associated with psychosocial impairments, but whether treatments and achieved height impact on health-related quality of life (HrQoL) and psychological functioning of children/adolescents is still controversial. This study aimed to examine the effects of height deviation and treatment status on psychosocial adaptation outcomes and to identify clinical and psychosocial determinants of internalizing/externalizing problems in a large cohort of short statured children/adolescents from seven European countries. Participants were 345 children aged 8-18 years with a clinical diagnosis of short stature and 421 parents of 4-18 year-old patients.