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Molecular biomarkers to track clinical improvement following an integrative treatment model in autistic toddlers

Published online by Cambridge University Press:  30 April 2021

Ignazio S. Piras ,
Filippo Manti ,
Anna Costa ,
Valentina Carone ,
Bruna Scalese ,
Joshua S. Talboom ,
Christian Veronesi ,
Claudio Tabolacci ,
Antonio M. Persico  and
Matthew J. Huentelman
...Show all authors
Ignazio S. Piras
Affiliation:
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ85004, USA
Filippo Manti
Affiliation:
Department of Human, Neuroscience Sapienza University, Rome, Italy
Anna Costa
Affiliation:
Service for Neurodevelopmental Disorders, University Campus Bio-Medico, Rome, Italy
Valentina Carone
Affiliation:
CRC Balbuzie, Rome, Italy
Bruna Scalese
Affiliation:
CRC Balbuzie, Rome, Italy
Joshua S. Talboom
Affiliation:
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ85004, USA
Christian Veronesi
Affiliation:
CRC Balbuzie, Rome, Italy
Claudio Tabolacci
Affiliation:
Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy
Antonio M. Persico
Affiliation:
Interdepartmental Program “Autism 0-90”, “Gaetano Martino” University Hospital, University of Messina, Messina, Italy
Matthew J. Huentelman
Affiliation:
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ85004, USA
Roberto Sacco
Affiliation:
Service for Neurodevelopmental Disorders, University Campus Bio-Medico, Rome, Italy
Carla Lintas*
Affiliation:
Service for Neurodevelopmental Disorders, University Campus Bio-Medico, Rome, Italy
*
Author for correspondence: Carla Lintas, Email: [email protected]
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Abstract

Objectives:

Identifying an objective, laboratory-based diagnostic tool (e.g. changes in gene expression), when used in conjunction with disease-specific clinical assessment, could increase the accuracy of the effectiveness of a therapeutic intervention.

Methods:

We assessed the association between treatment outcome and blood RNA expression before the therapeutic intervention to post-treatment (after 1 year) of five autism spectrum disorder (ASD) toddlers who underwent an intensive cognitive-behavioural intervention integrated with psychomotor and speech therapy.

Results:

We found 113 significant differentially expressed genes enriched for the nervous system, immune system, and transcription and translation-related pathways. Some of these genes, as MALAT-1, TSPO, and CFL1, appear to be promising candidates.

Conclusions:

Our findings show that changes in peripheral gene expression could be used in conjunction with clinical scales to monitor a rehabilitation intervention’s effectiveness in toddlers affected by ASD. These results need to be validated in a larger cohort.

Keywords

autism spectrum disorderdifferentially expressed genes (DEGs)integrative treatment modelbiomarkersresponse to therapy
Type
Short Communication
Information
Acta Neuropsychiatrica , Volume 33 , Issue 5 , October 2021 , pp. 267 - 272
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Copyright
© The Author(s), 2021. Published by Cambridge University Press on behalf of Scandinavian College of Neuropsychopharmacology

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