Pitt‐Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. It is caused by variants in the transcription factor TCF4. Heterogeneity in the clinical and molecular diagnostic criteria and care practices has prompted a group of international experts to establish guidelines for diagnostics and care. For issues, for which there was limited information available in international literature, we collaborated with national support groups and the participants of a syndrome specific international conference to obtain further information. Here, we discuss the resultant consensus, including the clinical definition of PTHS and a molecular diagnostic pathway. Recommendations for managing particular health problems such as dysregulated respiration are provided. We emphasize the need for integration of care for physical and behavioral issues. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimization of diagnostics and care.

BackgroundPitt-Hopkins syndrome (PTHS; MIM# 610954) is a genetically determined entity mainly caused by mutations in TransCription Factor 4 (TCF4). We have developed a new way to collect information on (ultra-)rare disorders through a web-based database which we call ‘waihonapedia’ (waihona [meaning treasure in Hawaiian] encyclopaedia).MethodsWe have built a waihonapedia system in a collaboration between physicians, social scientists, and parent support groups. The system consists of an initial extensive questionnaire for background cross-sectional data, and subsequent follow-up using small questionnaires, with a particular focus on behavioural aspects. The system was built to be used through the internet, ensuring a secure environment, respecting privacy for participants, and acting automated to allow for low costs and limiting human mistakes in data handling. Recruitment of participants is through the patient support groups. In addition, as a sub-study, we used the data from the waihonapedia system to compare the two proposed diagnostic classification systems for PTHS.ResultsWe present here the results of the initial, cross-sectional questionnaire in which early development, physical health, cognition and behaviour are interrogated, and to which modules specific for PTHS were added on epilepsy and breathing patterns. We describe 101 individuals with a molecularly confirmed diagnosis of PTHS.Comparison of the two classification systems aimed at helping the clinical diagnosis was performed in 47 of the present PTHS individuals, with disappointing results for both. Internationally accepted clinical diagnostic criteria are needed.ConclusionThe present cross-sectional data on the natural history of PTHS have yielded useful information which will further increase when follow-up data will be added. No doubt this will improve both care and research.

No abstract

The present study aimed at analyzing the efficacy of a 6-month football training program compared with a standard exercise program on health and fitness parameters in overweight children. The study design was a 6-month, two-arm, parallel-group randomized trial. Twenty-two overweight children were randomly assigned to two groups (age=10.8+/-1.2 years, height=1.56+/-0.08 m, weight= 65.1+/-11.4 kg). One group conducted a football training program, and the other group an established standard sports program. Both interventions took place three times per week from mid-May to mid-November. Before, after 3 months and after the training period, comprehensive testing was conducted: anthropometric characteristics, cycling ergometry, psychometric monitoring as well as several motor ability tests. Maximal performance capacity increased and submaximal heart rate during cycling ergometry decreased significantly. Several motor skills as well as self-esteem also improved considerably. Body composition and other psychometric variables remained nearly unchanged. No relevant differences were observed between both exercise programs. It can be concluded that a 6-month football training is as efficacious in improving the physical capacity, health-related fitness parameters and self-esteem of overweight children as a standard exercise program. These results provide further evidence that playing football has significant health effects.

No abstract