TY - JOUR
T1 - A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome
AU - Cereda, Anna
AU - Mariani, Milena
AU - Rebora, Paola
AU - Sajeva, Anna
AU - Ajmone, Paola Francesca
AU - Gervasini, Cristina
AU - Russo, Silvia
AU - Kullmann, Gaia
AU - Valsecchi, Grazia
AU - Selicorni, Angelo
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - Clinical variability
KW - Cornelia de Lange syndrome
KW - Intellectual outcome
KW - Prognostic index
UR - http://www.scopus.com/inward/record.url?scp=84965081626&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84965081626&partnerID=8YFLogxK
U2 - 10.1002/ajmg.c.31494
DO - 10.1002/ajmg.c.31494
M3 - Article
AN - SCOPUS:84965081626
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
ER -