Background: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) presents significant challenges for affected children and adolescents, their social environment, and treating physicians, due to its profound impact on quality of life and the lack of causal therapeutic approaches. One crucial aspect of care that has been missing for these patients is comprehensive education for both them and their social circles. Objective: This study protocol aims to outline the goals, study design, execution, and evaluation of the subproject within the BAYNET FOR ME/CFS project. The focus is on developing online education programs for children and adolescents with ME/CFS, as well as for their parents, siblings, and school staff. These programs are designed to improve independent disease management, increase knowledge, and promote interaction with other affected individuals. Methods: In phase I, the group-based online education programs were developed by a multidisciplinary team based on the ModuS concept created by the Competence Network for Patient Education (KomPaS). These programs were then piloted and finalized. Phase II involved recruiting participants and implementing the finalized programs. Given the restricted physical and cognitive capacities of the affected individuals, the patient education programs were exclusively designed in a digital format to facilitate participation. In phase III, the programs will be evaluated for acceptance, completeness, and participant satisfaction. The qualitative assessment will focus on individual expectations and benefits derived from the training. Phase IV will further assess the programs in terms of improvements in disease knowledge, health-related quality of life, life satisfaction, and family burden. Results: The programs were developed, piloted, and finalized during phase I, which ran from December 2022 to May 2023. The pilot phase, from March to May 2023, led to adaptations in the program concept. In total, 8 patients and their parents, 5 siblings, and 59 school staff participated in the piloting. Adjustments were made to the format, content, duration, and schedule to better meet the needs of the affected individuals and their social circles. In phase II, participant recruitment for the patient education program took place from January to July 2023. The study successfully recruited 24 young patients with ME/CFS and their parents, along with 8 siblings and 51 school staff. Two program blocks for patients and parents and 2-3 blocks for siblings and school staff commenced in May 2023 and were completed within the same year. Phase III began after phase II and involves the evaluation of the programs, with the process expected to conclude by the end of 2024. Phase IV, planned for 2025-2026, will involve the rollout of the program to 150 children and their caretakers. This phase will focus on evaluating disease knowledge, health-related quality of life, life satisfaction, and family burden, as well as include longitudinal assessments. Conclusions: The data aim to support the development of a comprehensive, interprofessional care model for children and adolescents with ME/CFS. International Registered Report Identifier (IRRID): DERR1-10.2196/54679

Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the registry HypoDok of the German Society of Pediatric Endocrinology and Diabetology (DGKED) was analyzed to evaluate the implementation of evidence-based guidelines and to assess the number of included patients. Inclusion criteria were (i) date of birth between 10/2001 and 05/2020 and (ii) increased thyroid-stimulating hormone (TSH) at screening and/or confirmation. The cohort was divided into before (A) and after (B) guideline publication in 02/2011, to assess the guideline’s influence on medical care. A total of 659 patients were analyzed as group A (n = 327) and group B (n = 332) representing 17.5% and 10.3% of CH patients identified in the German and Austrian neonatal screening program during the respective time period. Treatment start and thyroxine doses were similar in both groups and consistent with recommendations. Regular follow-ups were documented. In the first three years of life, less than half of the patients underwent audiometry; developmental assessment was performed in 49.3% (A) and 24.8% (B) (p < 0.01). Documentation of CH patient care by pediatric endocrinologists seemed to be established, however, it reflected only a minority of the affected patients. Therefore, comprehensive documentation as an important instrument of quality assurance and evidence-based medicine should be legally enforced and officially funded in order to record, comprehend, and optimize care and outcome in patients with rare diseases such as CH.

Background: Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the multicentre database HypoDok was analysed to evaluate the implementation of evidence-based guidelines in the care of children with CH and to assess the number of patients in this registry of the German society of paediatric endocrinology and diabetology (DGKED).Methods: HypoDok includes the prospective documentation of 1,630 patients with CH from 50 centres in Germany and Austria. Inclusion criteria were (i) date of birth between 10/2001 and 05/2020 and (ii) increased TSH at screening and/or confirmation. Parameters regarding diagnosis, therapy and follow-up were extracted. The number of registered patients was compared to the number in the report of the German Society for Neonatal Screening (DGNS). The cohort was divided into 2 groups, before (A) and after (B) guideline publication in 02/2011, to assess guideline’s influence on medical care.Results: 659 patients (62% female) were eligible and analysed as group A (n=327) and group B (n=332) representing 17.5% and 6.7% of CH patients identified in the German and Austrian neonatal screening program during the respective time period. Treatment start and thyroxin doses were similar in both groups and consistent with recommendations. Regular follow-ups were documented in both groups including five appointments in the first and three in the second year of life. Ultrasound of the thyroid gland was performed in 92.6% (A) and 92.1% (B) of the patients. In the first three years of life, 46.4% (A) and 40.0% (B) of the patients underwent audiometry, EQ/IQ testing was performed in 49.3% (A) and 24.8% (B) (p<0.01), respectively.Summary: While documentation of care for patients with CH by paediatric endocrinologists seems to be established, only a minority of all affected patients is included in HypoDok. Thus, the care and outcome of the majority of patients with CH remains uncertain. Therefore, comprehensive documentation as an important instrument of quality assurance and evidence-based medicine should be legally enforced and officially funded in order to record, comprehend and optimize care and outcome in patients with rare diseases such as CH, irrespective of treatment provider.