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Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation

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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.

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Abbreviations

CdLs:

Cornelia de Lange syndrome

IQ:

Intelligence quotient

ID:

Intellectual disability

GMDS II:

Griffiths’ mental developmental scale II/III)

VABS II:

Vineland Adaptive Behaviour Scale II

CBCL:

Child Behaviour Checklist 1,5–5 anni

CARS:

Childhood Autism Rating Scale

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Acknowledgments

We thank the Italian CdLs Association for their continued support in our efforts to improve knowledge of this condition.

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Authors and Affiliations

  1. Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy

    Paola Francesca Ajmone, Beatrice Allegri, Francesca Dall’Ara, Claudia Rigamonti, Paola Vizziello & Maria Antonella Costantino

  2. Department of Paediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy

    Anna Cereda

  3. Child and Youth Lab, Department of Psychology, Sigmund Freud University, Milan, Italy

    Giovanni Michelini

  4. Department of Pediatrics, ASST Lariana, Como, Italy

    Milena Mariani & Angelo Selicorni

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  1. Paola Francesca Ajmone
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  2. Beatrice Allegri
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  4. Giovanni Michelini
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  10. Maria Antonella Costantino
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Contributions

PA provided substantial contributions to the design and drafted the work, BA, GM, AC, FD, CR, MM, PV provided substantial contributions to the conception and design of the work, provided substantial contributions to the analysis and interpretation of data, and revised the work critically for important intellectual content. AS and AC revised the work critically for important intellectual content and provided final approval of the version to be published. All authors have read and approved the final version of the manuscript.

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Correspondence to Paola Francesca Ajmone.

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The authors declare that they have no competing interest.

Ethical Approval

The present study has been approved by the Ethics Committee of Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy.

Informed Consent

Written Informed Consent was obtained from parents/legal tutors, following a full explanation of the procedures undertaken. This study was performed in accordance with the Declaration of Helsinki (1964) and was approved by the local ethical committee of the Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico.

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Ajmone, P.F., Allegri, B., Cereda, A. et al. Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation. J Autism Dev Disord 52, 4763–4773 (2022). https://doi.org/10.1007/s10803-021-05343-8

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