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

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

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clinical assessment

Clinical evaluation of participants by means of Autism Diagnostic Observation Schedule, Social Responsiveness Scale

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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)

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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

Sponsors & Collaborators

• IRCCS Eugenio Medea

  lead OTHER

Study Design

Allocation

NA

Purpose

DIAGNOSTIC

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

1 Year

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2024-05-21

Primary Completion

2026-12-31

Completion

2026-12-31

Countries

• Italy

Study Locations