TY - JOUR
T1 - Mowat-Wilson syndrome
T2 - growth charts
AU - Ivanovski, Ivan
AU - Djuric, Olivera
AU - Broccoli, Serena
AU - Caraffi, Stefano Giuseppe
AU - Accorsi, Patrizia
AU - Adam, Margaret P
AU - Avela, Kristina
AU - Badura-Stronka, Magdalena
AU - Bayat, Allan
AU - Clayton-Smith, Jill
AU - Cocco, Isabella
AU - Cordelli, Duccio Maria
AU - Cuturilo, Goran
AU - Di Pisa, Veronica
AU - Dupont Garcia, Juliette
AU - Gastaldi, Roberto
AU - Giordano, Lucio
AU - Guala, Andrea
AU - Hoei-Hansen, Christina
AU - Inaba, Mie
AU - Iodice, Alessandro
AU - Nielsen, Jens Erik Klint
AU - Kuburovic, Vladimir
AU - Lazalde-Medina, Brissia
AU - Malbora, Baris
AU - Mizuno, Seiji
AU - Moldovan, Oana
AU - Møller, Rikke S
AU - Muschke, Petra
AU - Otelli, Valeria
AU - Pantaleoni, Chiara
AU - Piscopo, Carmelo
AU - Poch-Olive, Maria Luisa
AU - Prpic, Igor
AU - Marín Reina, Purificación
AU - Raviglione, Federico
AU - Ricci, Emilia
AU - Scarano, Emanuela
AU - Simonte, Graziella
AU - Smigiel, Robert
AU - Tanteles, George
AU - Tarani, Luigi
AU - Trimouille, Aurelien
AU - Valera, Elvis Terci
AU - Schrier Vergano, Samantha
AU - Writzl, Karin
AU - Callewaert, Bert
AU - Savasta, Salvatore
AU - Street, Maria Elisabeth
AU - Iughetti, Lorenzo
AU - Bernasconi, Sergio
AU - Giorgi Rossi, Paolo
AU - Garavelli, Livia
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
U2 - 10.1186/s13023-020-01418-4
DO - 10.1186/s13023-020-01418-4
M3 - Journal article
C2 - 32539836
VL - 15
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
M1 - 151
ER -