Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Journal article
(Review article)

Publication Details

Author(s): Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC
Journal: Clinical Genetics
Publication year: 2019
Volume: 95
Journal issue: 4
Pages range: 462-478
ISSN: 0009-9163


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.

FAU Authors / FAU Editors

Zweier, Christiane Prof. Dr.
Medizinische Fakultät

External institutions with authors

Amsterdam UMC
Children's Mercy Hospital
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Houston Texas Medical Center
Karolinska University Hospital / Karolinska Universitetssjukhuset
Leiden University
Lentis Psychiatric Institute
Massachusetts General Hospital
Massachusetts General Hospital
Ospedale Pediatrico Bambino Gesu
Pitt Hopkins UK
Radboud University Nijmegen
Saint Mary's Hospital
Stichting Pitt Hopkins Syndroom
Università degli Studi di Siena (UNISI) / University of Siena
University of Paris 4 - Paris-Sorbonne / Université paris IV Paris-Sorbonne
University of Texas Health Science Center at San Antonio (UTHSCSA)
Wrocław Medical University / Uniwersytet Medyczny we Wrocławiu

How to cite

Zollino, M., Zweier, C., Van Balkom, I.D., Sweetser, D.A., Alaimo, J., Bijlsma, E.K.,... Hennekam, R.C. (2019). Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clinical Genetics, 95(4), 462-478. https://dx.doi.org/10.1111/cge.13506

Zollino, Marcella, et al. "Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement." Clinical Genetics 95.4 (2019): 462-478.


Last updated on 2019-08-04 at 12:53