Cornelia de Lange syndrome is a well-known multiple congenital anomalies/intellectual disability syndrome with genetic heterogeneity and wide clinical variability, regarding the severity of both the intellectual disabilities and the physical features, not completely explained by the genotype-phenotype correlations known to date. The aim of the study was the identification of prognostic features, ascertainable precociously in the patient's life, of a better intellectual outcome and the development of a new prognostic index of severity of intellectual disability in CdLS patients. In 66 italian CdLS patients aged 8 years or more, we evaluated the association of the degree of intellectual disability with various clinical parameters ascertainable before 6 months of life and with the molecular data by the application of cumulative regression logistic model. Based on these results and on the previously known genotype-phenotype correlations, we selected seven parameters to be used in a multivariate cumulative regression logistic model to develop a prognostic index of severity of intellectual disability. The probability of a mild ID increases with the reducing final score less than two, the probability of a severe ID increases with the increasing final score more than three. This prognostic index allows to define, precociously in the life of a baby, the probability of a better or worse intellectual outcome in CdLS patients. © 2016 Wiley Periodicals, Inc.
Cereda A., Mariani M., Rebora P., Sajeva A., Ajmone P.F., Gervasini C., et al. (2016). A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS, 172(2), 179-189 [10.1002/ajmg.c.31494].
Citazione: | Cereda A., Mariani M., Rebora P., Sajeva A., Ajmone P.F., Gervasini C., et al. (2016). A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS, 172(2), 179-189 [10.1002/ajmg.c.31494]. | |
Tipo: | Articolo in rivista - Articolo scientifico | |
Carattere della pubblicazione: | Scientifica | |
Presenza di un coautore afferente ad Istituzioni straniere: | No | |
Titolo: | A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome | |
Autori: | Cereda A.; Mariani M.; Rebora P.; Sajeva A.; Ajmone P.F.; Gervasini C.; Russo S.; Kullmann G.; Valsecchi G.; Selicorni A. | |
Autori: | ||
Data di pubblicazione: | 2016 | |
Lingua: | English | |
Rivista: | AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS | |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1002/ajmg.c.31494 | |
Appare nelle tipologie: | 01 - Articolo su rivista |