RecruitingNot ApplicableNCT07389720

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


Sponsor

IRCCS Eugenio Medea

Enrollment

300 participants

Start Date

May 21, 2024

Study Type

INTERVENTIONAL

Conditions

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

Min Age: 1 Year

Inclusion Criteria4

  • 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 Criteria3

  • 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.

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Interventions

DIAGNOSTIC_TESTclinical assessment

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

DIAGNOSTIC_TESTNeuropsychological 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_TESTNeurophysiological evaluation

Magnetic Resonance Imaging (structural MRI and spectroscopy)

DIAGNOSTIC_TESTGenetic 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


Locations(1)

IRCCS E. Medea

Bosisio Parini, Lecco, Italy

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NCT07389720


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