Characterization of (A)Typical Sensorimotor Pathways in Individuals With Autism
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: clinical assessment, Neuropsychological examination, Neurophysiological evaluation, Genetic evaluation.
- Who it may be relevant to
- Registry conditions: Autism Spectrum Disorder. Basic parameters: from 1 year · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- 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 e
Primary outcome measures
- Movement Assessment Battery for Children 3 (MABC3) [Time frame: immediately after the intervention]
- Developmental Coordination Disorder Questionnaire (DCDQ) [Time frame: immediately after the intervention]
- Adult Developmental Coordination Disorder/Dyspraxia Checklist (ADC) [Time frame: immediately after the intervention]
- kinematic analysis of two motor tasks [Time frame: immediately after the intervention]
Secondary outcome measures (3)
- Magnetic Resonance (MRI) [Time frame: immediately after the intervention]
- Magnetic Resonance Spectroscopy [Time frame: immediately after the intervention]
- Exome sequencing [Time frame: immediately after the intervention]
Eligibility criteria
Inclusion criteria
- children aged 2 to 12 years (both autistic and typically developing)
- Clinical diagnosis of Autism Spectrum Disorder based on clinical judgment according to DSM-5 criteria (for the autism group).
- being parents of the enrolled children (both autistic and typically developing)
- infants younger than 24 months of age with a first-degree family member with a clinical diagnosis of Autism Spectrum Disorder.
Exclusion criteria
- Presence of medical and/or neurological conditions of clinical significance, including epilepsy.
- Presence of dysmorphic syndromes or known genetic syndromes.
- Current use of medications and/or psychotropic drugs.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
Italy · 1 center
- IRCCS E. Medea — Bosisio Parini
Identifiers
NCT: NCT07389720 · 95/24 (ex 1105)