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

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 (2019)

Publication Type: Journal article, Review article

Publication year: 2019

Journal

Book Volume: 95

Pages Range: 462-478

Journal Issue: 4

DOI: 10.1111/cge.13506

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.

Authors with CRIS profile

Involved external institutions

Fondazione Policlinico Universitario Agostino Gemelli IRCCS Italy (IT) Houston Texas Medical Center United States (USA) (US) Massachusetts General Hospital United States (USA) (US) University of Texas Health Science Center at San Antonio (UTHSCSA) United States (USA) (US) Stichting Pitt Hopkins Syndroom Netherlands (NL) Università degli Studi di Siena (UNISI) / University of Siena Italy (IT) Amsterdam University Medical Centers (Amsterdam UMC) / Amsterdam Universitair Medische Centra Netherlands (NL) Lentis Psychiatric Institute Netherlands (NL) Pitt Hopkins UK United Kingdom (GB) Wrocław Medical University / Uniwersytet Medyczny we Wrocławiu Poland (PL) University of Paris 4 - Paris-Sorbonne / Université paris IV Paris-Sorbonne France (FR) Radboud University Nijmegen Netherlands (NL) Children's Mercy Hospital United States (USA) (US) Karolinska University Hospital / Karolinska Universitetssjukhuset Sweden (SE) Saint Mary's Hospital United States (USA) (US) Massachusetts General Hospital United States (USA) (US) Leiden University Netherlands (NL) Ospedale Pediatrico Bambino Gesu Italy (IT)

How to cite

APA:

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

MLA:

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

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