ArticleMolecular genetics & genomic medicine2020
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Feasibility of an Evidence-Based Parent-Mediated Intervention for Autism Spectrum Disorder in a Community Healthcare Service in Italy.Children (Basel, Switzerland) · 2025Article
- Enhancing Communication in Minimally Verbal Autistic Children: A Study on NAO-Assisted Therapy.Journal of clinical medicine · 2025Article
- scaLR: a low-resource deep neural network-based platform for single cell analysis and biomarker discovery.Briefings in bioinformatics · 2025Article
- Cochlear Implantation in Children with Additional Disabilities: A Systematic Review.Children (Basel, Switzerland) · 2023Review
- Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.Molecular genetics & genomic medicine · 2023Article
- Virtual Reality Technology to Enhance Conventional Rehabilitation Program: Results of a Single-Blind, Randomized, Controlled Pilot Study in Patients with Global Developmental Delay.Journal of clinical medicine · 2023Article
- Review
- Article
- Efficacy and Safety of Q10 Ubiquinol With Vitamins B and E in Neurodevelopmental Disorders: A Retrospective Chart Review.Frontiers in psychiatry · 2022Article
- 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 · 2020Article
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Authors and funding
22 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundChildren with autism spectrum disorder (ASD) display impressive clinical heterogeneity, also involving treatment response. Genetic variants can contribute to explain this large interindividual phenotypic variability.
methodsArray-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.
resultsThe 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.
conclusionThese 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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