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

Condition(s) studied

Investigational drug(s) / intervention(s)

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

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).

Neurophysiological evaluation: Magnetic Resonance Imaging (structural MRI and spectroscopy)

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

Study 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.

Eligibility

Primary outcome measure(s)

• Movement Assessment Battery for Children 3 (MABC3) — immediately after the intervention
  The Movement ABC-3 (Movement Assessment Battery for Children, Third Edition) is a comprehensive, standardized assessment tool for identifying gross and fine motor coordination difficulties in individuals aged 3 to 25, assessing skills like dexterity, aiming, catching, balance, and locomotion.
• Developmental Coordination Disorder Questionnaire (DCDQ) — immediately after the intervention
  The Developmental Coordination Disorder Questionnaire (DCDQ) is a parent questionnaire originally developed for estimating gross and fine motor skill difficulties in children. The questionnaire consists of 15 items investigating different subdomains of motor abilities, such as ball skills, complex motor coordination, fine and general motor skills. For each item, parents rate the children's degree of motor coordination on a 5-point scale comparing it to same-age peers.
• Adult Developmental Coordination Disorder/Dyspraxia Checklist (ADC) — immediately after the intervention
  The Adult Developmental Coordination Disorder/Dyspraxia Checklist (ADC) is a self-report screening tool for adults (16+) to identify potential Developmental Coordination Disorder (DCD/Dyspraxia) by assessing lifelong motor challenges in daily activities
• kinematic analysis of two motor tasks — immediately after the intervention
  (a) a reaching-and-inserting task involving a ball (ball task), which consists in reaching and grasping a rubber ball (diameter: 6 cm) placed over a support and dropping it in a small basket, provided with a hole large enough (diameter: 7 cm) not to require fine movements; (b) a task requiring grasping a moving ball (ball-rolling task) which requires participants to catch a ball rolling toward them on a curvilinear path off an inclined tabletop. As outcome measure, we will consider the total movement duration (recorded in sec).

Trial sites (1)

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