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.

Differential relations between specific types of language impairment and specific behaviour problems already exist at a young age. Phonological problems showed broad relations to problem behaviour; semantic language problems were especially related to internalizing behaviour problems. This finding suggests the need for specific therapies for both different types of language problems and different types of behaviour problems.

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An efficacy study of an indirect or Parent-based intervention programme involving Video Home Training (PVHT) was conducted with a focus on parental strategies to (re-)establish coherence in conversations between young children with Developmental Language Delay (DLD) and their parents or caregivers. In order to assess the efficacy of the PVHT programme, linguistic and conversational coherence outcomes were compared to those for a Direct Child language Intervention (DCI) programme. A randomized controlled group design with follow-up measures was used: there were 11 children with their parents in the PVHT group and 11 children with their parents in the DCI group. Compared to the DCI programme the PVHT programme showed significant short-term and long-term effects on mean length of utterance, grammar, language comprehension and conversational coherence at post-treatment and follow-up. The results are discussed in light of previous studies, VHT and the PVHT-focus on parental training of strategies to create conversational coherence.