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CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder

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Abstract

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects, categorized in complex (47) and essential (162), and performed array comparative genomic hybridization to identify pathogenic and recurrent Copy Number Variants (CNVs). We found 117 CNVs in 75 patients, 11 classified as pathogenic. The complex ASD subjects have higher frequency of pathogenic CNVs with a diagnostic yield of 12.8%. Familiality, cognitive and verbal abilities, severity of autistic symptoms, neuroimaging and neurophysiological findings are not related to genetic data. This study identifies loci of interest for ASD and highlights the importance of a careful phenotypic characterization, as complex ASD is related to higher rate of pathogenic CNVs.

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Acknowledgments

We thank Mariani Foundation for its support to the assistance and research taking place in our Unit related to complex neuro- developmental disabilities. A special thanks to Flavia Faccio, PsyD, for her precious help in revising the English writing of the final draft.

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Authors and Affiliations

  1. Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy

    Silvia Annunziata, Sara Bulgheroni, Stefano D’Arrigo, Silvia Esposito, Matilde Taddei, Veronica Saletti, Enrico Alfei, Chiara Pantaleoni & Daria Riva

  2. Child Neurology and Psychiatry Unit, Brain and Behavioral Sciences Department, University of Pavia, 27100, Pavia, Italy

    Silvia Annunziata

  3. Pediatric Neurology Unit, “Vittore Buzzi” Children’s Hospital ASST Fatebenefratelli-Sacco, 20100, Milan, Italy

    Enrico Alfei

  4. Laboratory of Clinical Pathology and Medical Genetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy

    Francesca Luisa Sciacca & Ambra Rizzo

Authors
  1. Silvia Annunziata
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  2. Sara Bulgheroni
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  3. Stefano D’Arrigo
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  4. Silvia Esposito
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  5. Matilde Taddei
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  6. Veronica Saletti
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  7. Enrico Alfei
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  8. Francesca Luisa Sciacca
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  9. Ambra Rizzo
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  10. Chiara Pantaleoni
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  11. Daria Riva
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Contributions

AS study design and manuscript writing, care of the patients. ES manuscript writing and revision for intellectual content, care of the patients. DS, SV, AE, PC manuscript revision for intellectual content, care of the patients. BS, TM manuscript revision for intellectual content, assessment and interpretation of neuropsychological data, statistical data analysis. SFL, RA manuscript revision for intellectual content, assessment and interpretation of genetic findings. RD study design and manuscript revision for intellectual content.

Corresponding author

Correspondence to Silvia Esposito.

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The authors declare that they have no conflict of interest.

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The study was approved by the Research Ethics Committee of Fondazione IRCCS Istituto Neurologico Carlo Besta.

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Written informed consent to the research and to publication of the results was obtained from all patients.

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Annunziata, S., Bulgheroni, S., D’Arrigo, S. et al. CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder. J Autism Dev Disord 53, 615–623 (2023). https://doi.org/10.1007/s10803-020-04833-5

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