A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome
Articolo
Data di Pubblicazione:
2016
Citazione:
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome / A. Cereda, M. Mariani, P. Rebora, A. Sajeva, P. Ajmone, C. Gervasini, S. Russo, G. Kullmann, G. Valsecchi, A. Selicorni. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS. - ISSN 1552-4868. - 172:2(2016 Jun), pp. 179-189.
Abstract:
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
clinical variability; Cornelia de Lange syndrome; intellectual outcome; prognostic index; genetics; genetics (clinical)
Elenco autori:
A. Cereda, M. Mariani, P. Rebora, A. Sajeva, P. Ajmone, C. Gervasini, S. Russo, G. Kullmann, G. Valsecchi, A. Selicorni
Link alla scheda completa: