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].

A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome

REBORA, PAOLA;RUSSO, SILVIA;KULLMANN, GAIA ALESSANDRA;VALSECCHI, MARIA GRAZIA;
2016

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. © 2016 Wiley Periodicals, Inc.
Articolo in rivista - Articolo scientifico
clinical variability; Cornelia de Lange syndrome; intellectual outcome; prognostic index;
English
179
189
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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].
Cereda, A; Mariani, M; Rebora, P; Sajeva, A; Ajmone, P; Gervasini, C; Russo, S; Kullmann, G; Valsecchi, M; Selicorni, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/137306
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