Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.

Paola Francesca Ajmone,Francesca Dall’Ara,Anna Cereda,Paola Vizziello,Giovanni Michelini,Maria Antonella Costantino,Beatrice Allegri,Angelo Selicorni,Claudia Rigamonti,Milena Mariani

doi:10.1007/s10803-021-05343-8

Abstract

Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently,we search for possible genotype-phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a higher percentage of subjects with normal intellectual quotient (IQ) and borderline IQ; adaptive skills were lower than expected for age in all participants. 39.5% of the sample presented with autism spectrum disorder (ASD), NIPBL mutated individuals demonstrated a worse trend in comparison with the clinical diagnosis group. non-truncating individuals displayed no ASD and better communication abilities than truncating individuals. Findings increase our awareness of the strengths and weaknesses points in CdLS individuals.

Highlights

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder and its phenotype clinical expression is widely variable
These findings should increase our awareness of the strengths and weaknesses points in CdLS individuals to guide appropriate targeted management; interventions addressing communicative impairments represent a clinical priority in CdLS patients
Cornelia de Lange syndrome (CdLS, OMIM, #122470, #300590, #610759, #614701, #300882) is a rare genetic disorder characterized by peculiar facial dysmorphisms, major malformations, growth retardation, and developmental delay/intellectual disability with an estimated prevalence between 1 in 10,000 and 1 in 30,000 live births [Kline et al, 2007]

Summary

Introduction

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder and its phenotype clinical expression is widely variable. A kind of genetic gradient of severity for the other genes associated with CdLSp was presumed with HDAC8 gene at the top with a more classic and severe clinical presentation, and SMC3 gene at the bottom with a mild presentation. None of these correlations, are based on statistical analysis of a large cohort of patients

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