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Francesca Cucinotta, Arianna Ricciardello, Laura Turriziani, Giorgia Calabrese, Marilena Briguglio, Maria Boncoddo, Fabiana Bellomo, Pasquale Tomaiuolo, et al.
(2020).
FARP‐1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.
Molecular Genetics & Genomic Medicine, 8(9), e1373.
Wiley.
- Date de publication
-
25/06/2020
- Identifiant
-
10.1002/mgg3.1373
- Auteurs
-
Francesca Cucinotta,
Arianna Ricciardello,
Laura Turriziani,
Giorgia Calabrese,
Marilena Briguglio,
Maria Boncoddo,
Fabiana Bellomo,
Pasquale Tomaiuolo,
Silvia Martines,
Marianna Bruschetta,
Francesca La Fauci Belponer,
Tiziana Di Bella,
Costanza Colombi,
Marco Baccarin,
Chiara Picinelli,
Paola Castronovo,
Carla Lintas,
Roberto Sacco,
Thomas Biederer,
Barbara Kellam,
Stephen W. Scherer,
Antonio M. Persico
- Source
- Molecular Genetics & Genomic Medicine
- Détails
- 8(9), e1373
- Type de référence
- article
- Éditeur
- Wiley
- Source de métadonnées
- crossref
Résumé
Abstract Background Children with autism spectrum disorder (ASD) display impressive clinical heterogeneity, also involving treatment response. Genetic variants can contribute to explain this large interindividual phenotypic variability. Methods Array‐CGH (a‐CGH) and whole genome sequencing (WGS) were performed on a multiplex family with two small children diagnosed with ASD at 17 and 18 months of age. Both brothers received the same naturalistic intervention for one year according to the Early Start Denver Model (ESDM), applied by the same therapists, yielding dramatically different treatment outcomes. Results The older sibling came out of the autism spectrum, while the younger sibling displayed very little, in any, improvement. This boy was subsequently treated applying a structured Early Intensive Behavioral Intervention paired with Augmentative Alternative Communication, which yielded a partial response within another year. The ESDM nonresponsive child carries a novel maternally inherited 65 Kb deletion at chr. 13q32.2 spanning FARP1. Farp1 is a synaptic scaffolding protein, which plays a significant role in neural plasticity. Conclusion These results represent a paradigmatic example of the heuristic potential of genetic markers in predicting treatment response and possibly in supporting the targeted prescription of specific early intervention approaches.
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