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Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation
Paola Francesca Ajmone1, Beatrice Allegri2, Anna Cereda3
1Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy. paola.ajmone@policlinico.mi.it.
Journal of Autism and Developmental Disorders
|November 9, 2021
Summary
Cornelia de Lange syndrome (CdLS) patients show varied intellectual quotients and lower adaptive skills. NIPBL gene variants correlate with autism spectrum disorder (ASD) and communication differences in CdLS.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with a wide spectrum of clinical manifestations.
- Behavioural and cognitive phenotypes, including autism spectrum disorder (ASD), are frequently observed in individuals with CdLS.
- Understanding genotype-phenotype correlations can aid in predicting outcomes and tailoring interventions.
Purpose of the Study:
- To assess the behavioural phenotype and autism-related traits in a cohort of 38 patients with CdLS.
- To investigate potential genotype-phenotype correlations, specifically comparing individuals with NIPBL variants to those with negative molecular results.
- To identify specific genetic factors influencing cognitive and behavioural outcomes in CdLS.
Main Methods:
- A cohort of 38 CdLS patients underwent assessment using a specific neuropsychiatric protocol.
- Genotype-phenotype correlations were explored by comparing individuals with identified NIPBL variants against a control group with negative molecular findings.
- Intellectual quotient (IQ), adaptive skills, and presence of ASD were evaluated.
Main Results:
- A significant proportion of patients presented with normal or borderline intellectual quotient (IQ).
- Adaptive skills were generally lower than expected for age across all participants.
- 39.5% of the sample met criteria for autism spectrum disorder (ASD); NIPBL mutated individuals showed a trend towards worse outcomes compared to the clinical diagnosis group.
- Non-truncating NIPBL variants were associated with the absence of ASD and better communication abilities compared to truncating variants.
Conclusions:
- Individuals with CdLS exhibit a complex behavioural phenotype with notable strengths and weaknesses.
- NIPBL gene variants play a role in the manifestation of ASD and communication abilities in CdLS.
- Further research into genotype-phenotype correlations can refine diagnostic and therapeutic strategies for CdLS.
