Orphanet Journal of Rare Diseases (Jun 2020)
Mowat-Wilson syndrome: growth charts
- Ivan Ivanovski,
- Olivera Djuric,
- Serena Broccoli,
- Stefano Giuseppe Caraffi,
- Patrizia Accorsi,
- Margaret P. Adam,
- Kristina Avela,
- Magdalena Badura-Stronka,
- Allan Bayat,
- Jill Clayton-Smith,
- Isabella Cocco,
- Duccio Maria Cordelli,
- Goran Cuturilo,
- Veronica Di Pisa,
- Juliette Dupont Garcia,
- Roberto Gastaldi,
- Lucio Giordano,
- Andrea Guala,
- Christina Hoei-Hansen,
- Mie Inaba,
- Alessandro Iodice,
- Jens Erik Klint Nielsen,
- Vladimir Kuburovic,
- Brissia Lazalde-Medina,
- Baris Malbora,
- Seiji Mizuno,
- Oana Moldovan,
- Rikke S. Møller,
- Petra Muschke,
- Valeria Otelli,
- Chiara Pantaleoni,
- Carmelo Piscopo,
- Maria Luisa Poch-Olive,
- Igor Prpic,
- Purificación Marín Reina,
- Federico Raviglione,
- Emilia Ricci,
- Emanuela Scarano,
- Graziella Simonte,
- Robert Smigiel,
- George Tanteles,
- Luigi Tarani,
- Aurelien Trimouille,
- Elvis Terci Valera,
- Samantha Schrier Vergano,
- Karin Writzl,
- Bert Callewaert,
- Salvatore Savasta,
- Maria Elisabeth Street,
- Lorenzo Iughetti,
- Sergio Bernasconi,
- Paolo Giorgi Rossi,
- Livia Garavelli
Affiliations
- Ivan Ivanovski
- Medical Genetics Unit, Department of Mother and Child, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia
- Olivera Djuric
- Epidemiology Unit, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia
- Serena Broccoli
- Epidemiology Unit, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia
- Stefano Giuseppe Caraffi
- Medical Genetics Unit, Department of Mother and Child, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia
- Patrizia Accorsi
- Neuropsychiatric Department, Spedali Civili Brescia
- Margaret P. Adam
- Division of Genetic Medicine, University of Washington School of Medicine
- Kristina Avela
- Department of Clinical Genetics, Helsinki University Hospital
- Magdalena Badura-Stronka
- Chair and Department of Medical Genetics, Poznan University of Medical Sciences
- Allan Bayat
- Institute for Regional Health Service, University of Southern Denmark
- Jill Clayton-Smith
- Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester
- Isabella Cocco
- Neuropsychiatric Department, Spedali Civili Brescia
- Duccio Maria Cordelli
- Child Neurology and Psychiatry Unit, Pediatric Department, St. Orsola-Malpighi Hospital, University of Bologna
- Goran Cuturilo
- Faculty of Medicine, University of Belgrade
- Veronica Di Pisa
- Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester
- Juliette Dupont Garcia
- Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa
- Roberto Gastaldi
- UOC Clinica Pediatrica, Istituto Giannina Gaslini
- Lucio Giordano
- Neuropsychiatric Department, Spedali Civili Brescia
- Andrea Guala
- SOC Pediatria, Ospedale Castelli
- Christina Hoei-Hansen
- Department of Paediatrics, Copenhagen University Hospital
- Mie Inaba
- Department of Pediatrics, Central Hospital, Aichi Human Service Center
- Alessandro Iodice
- Child Neurology and Psychiatry Unit, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia
- Jens Erik Klint Nielsen
- Department of Pediatrics, Zealand University Hospital Roskilde
- Vladimir Kuburovic
- Department of Cardiology, Mother and Child Health Care Institute
- Brissia Lazalde-Medina
- Biomedical Research Unit, Mexican Institute of Social Security
- Baris Malbora
- Department of Pediatric Hematology & Oncology, Tepecik Training and Research Hospital
- Seiji Mizuno
- Department of Pediatrics, Central Hospital, Aichi Human Service Center
- Oana Moldovan
- Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa
- Rikke S. Møller
- Danish Epilepsy Centre
- Petra Muschke
- Institute for Human Genetics, University Hospital Magdeburg
- Valeria Otelli
- ATS Bergamo, Brembana Valley district
- Chiara Pantaleoni
- Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta
- Carmelo Piscopo
- U.O.S.C. Medical Genetics, A.O.R.N. “A. Cardarelli”
- Maria Luisa Poch-Olive
- Department of Pediatrics, H. San Pedro, La Rioja
- Igor Prpic
- Department of Pediatrics–Child Neurology Service, University Hospital Rijeka, Medical Faculty, University of Rijeka
- Purificación Marín Reina
- Dismorphology and Reproductive Genetics, Neonatal Research Group, Health Research Institute Hospital La Fe, University & Polytechnic Hospital La Fe
- Federico Raviglione
- Child Neuropsychiatry Unit, U.O.N.P.I.A ASST–Rhodense
- Emilia Ricci
- Child Neurology and Psychiatry Unit, Pediatric Department, St. Orsola-Malpighi Hospital, University of Bologna
- Emanuela Scarano
- Unit of Pediatrics, Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna
- Graziella Simonte
- Medical Genetics Unit, Department of Mother and Child, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia
- Robert Smigiel
- Department of Pediatrics, Division Pediatric Propedeutics and Rare Disorders, Wroclaw Medical University
- George Tanteles
- Clinical Genetics Clinic, Cyprus Institute of Neurology and Genetics
- Luigi Tarani
- Department of Pediatrics, University “La Sapienza,”
- Aurelien Trimouille
- CHU de Bordeaux, Service de Génétique Médicale
- Elvis Terci Valera
- Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo
- Samantha Schrier Vergano
- Department of Pediatrics, Eastern Virginia Medical School
- Karin Writzl
- Clinical Institute of Medical Genetics, University Medical Centre Ljubljana
- Bert Callewaert
- Center for Medical Genetics, Ghent University Hospital
- Salvatore Savasta
- Pediatric Clinic, IRCCS Policlinico “S. Matteo” Foundation, University of Pavia
- Maria Elisabeth Street
- Division of Pediatric Endocrinology and Diabetology, Department of Mother and Child, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia
- Lorenzo Iughetti
- Post-graduate School of Pediatrics, University of Modena and Reggio Emilia
- Sergio Bernasconi
- Microbiome Research Hub, University of Parma
- Paolo Giorgi Rossi
- Epidemiology Unit, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia
- Livia Garavelli
- Medical Genetics Unit, Department of Mother and Child, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia
- DOI
- https://doi.org/10.1186/s13023-020-01418-4
- Journal volume & issue
-
Vol. 15,
no. 1
pp. 1 – 12
Abstract
Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children. Results In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build. Conclusions These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS.
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