NCT07389720

Characterization of (A)Typical Sensorimotor Pathways in Individuals With Autism

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 300 (estimated)
• Sponsor: IRCCS Eugenio Medea · Academic / Other
• Sex: All
• Age: 1 Year
• Healthy volunteers: Accepted

Summary

The goal of this interventional study is to understand whether sensorimotor skills could represent an endophenotype for autism, i.e. a specific class of biomarkers that bridges the gap between biological components of a condition and the behavioral/clinical dimensions. Motor and sensory differences are often observed in people with autism and may appear early in development or be shared among family members. The study will address three main questions: * What are the developmental effects of early differences in motor and sensory skills? * Are motor and sensory abilities influenced by family relationships? * Can studying motor and sensory differences in autism help researchers better understand the biological mechanisms underlying the condition? This study is structured in three topic-oriented work packages (WPs): WP1, a longitudinal assessment of sensorimotor skills as early predictors of later social characteristics in a mixed sample of infant siblings of autistic children (at elevated likelihood of autism) or with typical familial likelihood (no first-degree relatives with autism) (Q1); WP2, a cross-sectional investigation of sensorimotor abilities in autistic children and their parents as compared with typically developing children and their parents (Q2); and WP3, a dense-phenotyping approach to establish, within individuals, associations between traits across behavioral, neural, and molecular levels.

Conditions

• Autism Spectrum Disorder

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	clinical assessment	Clinical evaluation of participants by means of Autism Diagnostic Observation Schedule, Social Responsiveness Scale
DIAGNOSTIC_TEST	Neuropsychological examination	The participants' motor skills are measured using the Movement Assessment Battery for Children 3 (MABC3), the Developmental Coordination Disorder Questionnaire (DCDQ) or the Adult Developmental Coordination Disorder/Dyspraxia Checklist (ADC), and the kinematic analysis of upper-limb movements during two experimental tasks: (a) a reaching-and-inserting task involving a ball (ball task), and (b) a task requiring grasping a moving ball (ball-rolling task).
DIAGNOSTIC_TEST	Neurophysiological evaluation	Magnetic Resonance Imaging (structural MRI and spectroscopy)
DIAGNOSTIC_TEST	Genetic evaluation	Either blood or saliva will be obtained for participants for DNA collection. DNA will be extracted in the Molecular Biology Laboratory at the Scientific Institute IRCCS Medea. Captured exome libraries will be sequenced using the Illumina NextSeq 500 in 100 bp paired end reads. Postsequencing reads will be aligned using BWA Enrichment application on BaseSpace. Variant Call Format file will be then marked using wANNOVAR (Wang Genomics Lab). The analysis will be focused on non-synonymous variants enrichment in Gene Ontology and Human Phenotype

Timeline

• Start date: 2024-05-21
• Primary completion: 2026-12-01
• Completion: 2026-12-01
• First posted: 2026-02-05
• Last updated: 2026-02-05

Locations

1 site across 1 country: Italy