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

Autor: Zollino M; Fondazione Policlinico Universitario A.Gemelli, IRCCS, UOC Genetica.; Università Cattolica Sacro Cuore, Istituto di Medicina Genomica, Roma, Italy., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Van Balkom ID; Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, The Netherlands.; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, The Netherlands., Sweetser DA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts., Alaimo J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Cody J; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Giurgea I; Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Département de Génétique Médicale, Hôpital Trousseau, Paris, France., Macchiaiolo M; Rare and Genetic Diseases Unit, Bambino Gesù Children's Hospital, Rome, Italy., Smigiel R; Department of Pediatrics, Division of Pediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland., Thibert RL; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts., Benoist I; Dutch Pitt-Hopkins Syndrome Foundation, Vlaggeschip, Oosterhout, The Netherlands., Clayton-Smith J; Manchester Centre for Genomic Medicine, St Mary's Hospital, and Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester, UK., De Winter CF; Organisation for Individuals with Intellectual Disabilities, Trajectum, Zwolle, The Netherlands., Deckers S; Department of Pedagogical Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands., Gandhi A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Huisman S; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands., Kempink D; Department of Orthopedic Surgery, Sophia Children's Hospital, UMCR, Rotterdam, The Netherlands., Kruisinga F; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands., Lamacchia V; Department of Medical Genetics, University of Siena, Siena, Italy., Marangi G; Fondazione Policlinico Universitario A.Gemelli, IRCCS, UOC Genetica.; Università Cattolica Sacro Cuore, Istituto di Medicina Genomica, Roma, Italy., Menke L; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands., Mulder P; Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, The Netherlands.; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, The Netherlands., Nordgren A; Karolinska Center for Rare Diseases, Karolinska University Hospital, Stockholm, Sweden., Renieri A; Department of Medical Genetics, University of Siena, Siena, Italy., Routledge S; Pitt Hopkins UK, Ilford, UK., Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri., Stembalska A; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Van Balkom H; Behavioral Science Institute, Radboud University Nijmegen, Nijmegen, The Netherlands., Whalen S; Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Département de Génétique Médicale, Hôpital Trousseau, Paris, France., Hennekam RC; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2019 Apr; Vol. 95 (4), pp. 462-478. Date of Electronic Publication: 2019 Feb 18.
DOI: 10.1111/cge.13506
Abstrakt: 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.
(© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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