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

Marcella Zollino, Christiane Zweier, Ingrid D Van Balkom, David A Sweetser, Joseph Alaimo, Emilia K Bijlsma, Jannine Cody, Sarah H Elsea, Irina Giurgea, Marina Macchiaiolo, Robert Smigiel, Ronald L Thibert, Ingrid Benoist, Jill Clayton-Smith, Channa F De Winter, Stijn Deckers, Anusha Gandhi, Sylvia Huisman, Dagmar Kempink, Frea KruisingaVittoria Lamacchia, Giuseppe Marangi, Leonie Menke, Paul Mulder, Ann Nordgren, Alessandra Renieri, Sue Routledge, Carol J Saunders, Agnieszka Stembalska, Hans Van Balkom, Sandra Whalen, Raoul C Hennekam

Research output: Contribution to journalReview article

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.

Original languageEnglish
Pages (from-to)462-478
Number of pages17
JournalClinical Genetics
Volume95
Issue number4
DOIs
Publication statusPublished - Apr 2019

Fingerprint

Molecular Pathology
Consensus
Respiration
Self-Help Groups
Autonomic Nervous System
Intellectual Disability
Transcription Factors
Guidelines
Health
Pitt-Hopkins syndrome
Neurodevelopmental Disorders

Cite this

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://doi.org/10.1111/cge.13506

Diagnosis and management in Pitt-Hopkins syndrome : First international consensus statement. / Zollino, Marcella; Zweier, Christiane; Van Balkom, Ingrid D; Sweetser, David A; Alaimo, Joseph; Bijlsma, Emilia K; Cody, Jannine; Elsea, Sarah H; Giurgea, Irina; Macchiaiolo, Marina; Smigiel, Robert; Thibert, Ronald L; Benoist, Ingrid; Clayton-Smith, Jill; De Winter, Channa F; Deckers, Stijn; Gandhi, Anusha; Huisman, Sylvia; Kempink, Dagmar; Kruisinga, Frea; Lamacchia, Vittoria; Marangi, Giuseppe; Menke, Leonie; Mulder, Paul; Nordgren, Ann; Renieri, Alessandra; Routledge, Sue; Saunders, Carol J; Stembalska, Agnieszka; Van Balkom, Hans; Whalen, Sandra; Hennekam, Raoul C.

In: Clinical Genetics, Vol. 95, No. 4, 04.2019, p. 462-478.

Research output: Contribution to journalReview article

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, 'Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement', Clinical Genetics, vol. 95, no. 4, pp. 462-478. https://doi.org/10.1111/cge.13506
Zollino, Marcella ; Zweier, Christiane ; Van Balkom, Ingrid D ; Sweetser, David A ; Alaimo, Joseph ; Bijlsma, Emilia K ; Cody, Jannine ; Elsea, Sarah H ; Giurgea, Irina ; Macchiaiolo, Marina ; Smigiel, Robert ; Thibert, Ronald L ; Benoist, Ingrid ; Clayton-Smith, Jill ; De Winter, Channa F ; Deckers, Stijn ; Gandhi, Anusha ; Huisman, Sylvia ; Kempink, Dagmar ; Kruisinga, Frea ; Lamacchia, Vittoria ; Marangi, Giuseppe ; Menke, Leonie ; Mulder, Paul ; Nordgren, Ann ; Renieri, Alessandra ; Routledge, Sue ; Saunders, Carol J ; Stembalska, Agnieszka ; Van Balkom, Hans ; Whalen, Sandra ; Hennekam, Raoul C. / Diagnosis and management in Pitt-Hopkins syndrome : First international consensus statement. In: Clinical Genetics. 2019 ; Vol. 95, No. 4. pp. 462-478.
@article{698c1b70549e4127bf3d06ed4bacf119,
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.",
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 = "{\circledC} 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",
year = "2019",
month = "4",
doi = "10.1111/cge.13506",
language = "English",
volume = "95",
pages = "462--478",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "4",

}

TY - JOUR

T1 - Diagnosis and management in Pitt-Hopkins syndrome

T2 - 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

Y1 - 2019/4

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.

U2 - 10.1111/cge.13506

DO - 10.1111/cge.13506

M3 - Review article

C2 - 30677142

VL - 95

SP - 462

EP - 478

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 4

ER -