title: A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.
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.
authors.forename: Anna
authors.initials: A
authors.lastname: Cereda
authors.forename: Milena
authors.initials: M
authors.lastname: Mariani
authors.forename: Paola
authors.initials: P
authors.lastname: Rebora
authors.forename: Anna
authors.initials: A
authors.lastname: Sajeva
authors.forename: Paola Francesca
authors.initials: PF
authors.lastname: Ajmone
authors.forename: Cristina
authors.initials: C
authors.lastname: Gervasini
authors.forename: Silvia
authors.initials: S
authors.lastname: Russo
authors.forename: Gaia
authors.initials: G
authors.lastname: Kullmann
authors.forename: Grazia
authors.initials: G
authors.lastname: Valsecchi
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
mesh_terms: D002648:Child; D003635:De Lange Syndrome / Q000150:complications / Q000175:diagnosis*; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007558:Italy; D016015:Logistic Models; D011379:Prognosis; D012720:Severity of Illness Index
keywords: Cornelia de Lange syndrome; clinical variability; intellectual outcome; prognostic index