TY - JOUR
T1 - Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement
AU - Zollino, Marcella
AU - Zweier, Christiane
AU - van Balkom, Ingrid D.
AU - Sweetser, David A.
AU - Alaimo, Joseph
AU - Bijlsma, Emilia K.
AU - Cody, Jannine
AU - Elsea, Sarah H.
AU - Giurgea, Irina
AU - Macchiaiolo, Marina
AU - Smigiel, Robert
AU - Thibert, Ronald L.
AU - Benoist, Ingrid
AU - Clayton-Smith, Jill
AU - de Winter, Channa F.
AU - Deckers, Stijn
AU - Gandhi, Anusha
AU - Huisman, Sylvia
AU - Kempink, Dagmar
AU - Kruisinga, Frea
AU - Lamacchia, Vittoria
AU - Marangi, Giuseppe
AU - Menke, Leonie
AU - Mulder, Paul
AU - Nordgren, Ann
AU - Renieri, Alessandra
AU - Routledge, Sue
AU - Saunders, Carol J.
AU - Stembalska, Agnieszka
AU - van Balkom, Hans
AU - Whalen, Sandra
AU - Hennekam, Raoul C.
N1 - © 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
PY - 2019/4/1
Y1 - 2019/4/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85061780279&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30677142
U2 - https://doi.org/10.1111/cge.13506
DO - https://doi.org/10.1111/cge.13506
M3 - Review article
C2 - 30677142
SN - 0009-9163
VL - 95
SP - 462
EP - 478
JO - Clinical genetics
JF - Clinical genetics
IS - 4
ER -