@article{084325bd6ff24855ad4feb554b1a45b5,
title = "Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement",
abstract = "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.",
keywords = "Pitt-Hopkins syndrome, TCF4, autonomic dysfunction, diagnostic criteria, guidelines, molecular diagnostic pathway, syndromic behavior",
author = "Marcella Zollino and Christiane Zweier and {Van Balkom}, {Ingrid D.} and Sweetser, {David A.} and Joseph Alaimo and Bijlsma, {Emilia K.} and Jannine Cody and Elsea, {Sarah H.} and Irina Giurgea and Marina Macchiaiolo and Robert Smigiel and Thibert, {Ronald L.} and Ingrid Benoist and Jill Clayton-Smith and {De Winter}, {Channa F.} and Stijn Deckers and Anusha Gandhi and Sylvia Huisman and Dagmar Kempink and Frea Kruisinga and Vittoria Lamacchia and Giuseppe Marangi and Leonie Menke and Paul Mulder and Ann Nordgren and Alessandra Renieri and Sue Routledge and Saunders, {Carol J.} and Agnieszka Stembalska and {Van Balkom}, Hans and Sandra Whalen and Hennekam, {Raoul C.}",
note = "Funding Information: The authors are very grateful to all individuals with PTHS, their parents, and other caregivers who attended the 2018 International PTHS World Conference. The authors are especially grateful to Piet Papavoine and John van Heukelingen of the Dutch Pitt-Hopkins Syndrome Foundation. The authors apologize to the many authors that they were unable to cite because of space limitations. The work at the Massachusetts General Hospital Pitt-Hopkins Clinic in Boston was supported by Walter Herlihy and Nancy LeGendre. The work at the Catholic University, Rome, was supported by Telethon, Project GEP14089. Funding Information: The authors are very grateful to all individuals with PTHS, their parents, and other caregivers who attended the 2018 International PTHS World Conference. The authors are especially grateful to Piet Papa-voine and John van Heukelingen of the Dutch Pitt-Hopkins Syndrome Foundation. The authors apologize to the many authors that they were unable to cite because of space limitations. The work at the Massachusetts General Hospital Pitt-Hopkins Clinic in Boston was supported by Walter Herlihy and Nancy LeGendre. The work at the Catholic University, Rome, was supported by Telethon, Project GEP14089. Publisher Copyright: {\textcopyright} 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd",
year = "2019",
month = apr,
doi = "10.1111/cge.13506",
language = "English (US)",
volume = "95",
pages = "462--478",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "4",
}