Motor Impairments in Children With Autism Spectrum Disorder: a Multimodal Approach

NCT04769011 | Completed

• 1 other identifier: 510
• Study Type: interventional
• Target: 106
• Locations: 1 country
• Sites: 1

Brief Summary

The general goal of the present proposal, Progetto MOSAICO, is the identification of a multimodal panel of neuropsychological, kinematic, neurophysiological, and genetic markers associated with motor abnormalities present in ASD.

Conditions

Autism Spectrum Disorder; Attention Deficit Hyperactivity Disorder; Intellectual Disability

Outcome Measures

Primary Outcomes (6)

• Movement Assessment Battery for Children 2 (MABC2)

  The MABC2 (Henderson et al., 2007) is one of the most commonly used tests for the identification of motor difficulties in children aged 3-16 years. The MABC2 includes eight subtests grouped into three areas related to different components of motor domain: manual dexterity, ball skills (such as aiming and catching), and static and dynamic balance.

  immediately after the intervention

• Developmental Coordination Disorder Questionnaire (DCDQ)

  The DCDQ (Wilson et al., 2007) 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.

  immediately after the intervention

• kinematic analysis of a reach-to-drop task

  3D kinematic data of a reach-to-drop movement are collected by a motion-capture system (The SMART D from BTS Bioengineering® - Garbagnate Milanese, Italy). The reach-to-drop task consists in reaching and grasping a ball placed over a support and dropping it in a hole (Fig. 1; Forti et al., 2011; Crippa et al., 2015). The task is simple enough to warrant compliance by all children across groups. Each participant is asked to complete at least five trials of the task with their dominant hand. Kinematic data are recorded by eight infrared-motion analysis cameras at 60 Hz with a spatial accuracy of 0.2 mm.

  immediately after the intervention

• Magnetic Resonance (MRI)

  Magnetic Resonance (MRI) of the Brain - MRI signal allowing tridimensional multiplanar reconstruction of the brain's structures. Anatomical images obtained with high definition T1 weighted sequences of radio frequencies - the measure is a "signal (in Hz) to noise ratio" which is obtained from each voxel (tiny 3D portions of the brain)

  immediately after the intervention

• Diffusion Tensor Imaging (DTI)

  Diffusion Tensor Imaging (DTI) measures of the brain microstructure and connectivity - as in all MRI techniques, the measure is a "signal (in Hz) to noise ratio" which is obtained from each voxel

  immediately after the intervention

• Exome sequencing

  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. VCF file will be then marked using wANNOVAR (Wang Genomics Lab).

  immediately after the intervention

Study Arms (1)

Clinical, neuropsychological, neurophysiological, and genetic evaluations

EXPERIMENTAL

Clinical, neuropsychological, neurophysiological, and genetic evaluations

Diagnostic Test: Clinical evaluation; Diagnostic Test: Neuropsychological evaluation; Diagnostic Test: Neurophysiological evaluation; Diagnostic Test: Genetic evaluation

Interventions

Clinical evaluation DIAGNOSTIC_TEST

Clinical evaluation of participants by means of Autism Diagnostic Observation Schedule, Social Responsiveness Scale, Children Behavior Check List, Conners' Scale

Clinical, neuropsychological, neurophysiological, and genetic evaluations

Neuropsychological evaluation DIAGNOSTIC_TEST

The participants' motor skills are measured using the Movement Assessment Battery for Children 2 (MABC2) (Henderson et al., 2007), the Developmental Coordination Disorder Questionnaire (DCDQ) (Wilson et al., 2007), and the kinematic analysis of a reach-to-drop task (Forti et al., 2011; Crippa et al., 2015).Sensorimotor domain will be also further investigated with NEPSY-II (Korkman et al., 2007) (Fingertip Tapping, Imitating Hand Positions, Manual Motor Sequences, and Visuomotor Precision).

Clinical, neuropsychological, neurophysiological, and genetic evaluations

Neurophysiological evaluation DIAGNOSTIC_TEST

Magnetic Resonance Imaging (structural MRI and DTI)

Clinical, neuropsychological, neurophysiological, and genetic evaluations

Genetic evaluation DIAGNOSTIC_TEST

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. VCF 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.

Clinical, neuropsychological, neurophysiological, and genetic evaluations

Eligibility Criteria

• Age: 1 Year - 14 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

• having a clinical diagnosis of neurodevelopmental disorders (either ASD, ADHD, or intellectual disability) according to DSM-5 criteria;
• children with typical development are also recruited from the general population by local pediatricians or from kindergartens/schools sited near our institute

You may not qualify if:

• using any stimulant or non-stimulant medication affecting the central nervous system
• having an identified genetic disorder
• having vision or hearing problems
• suffering from chronic or acute medical illness.

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead

Study Sites (1)

IRCCS E. Medea

Bosisio Parini, Lecco, 23842, Italy

Location

MeSH Terms

Conditions

Autism Spectrum Disorder; Attention Deficit Disorder with Hyperactivity; Intellectual Disability

Interventions

Physical Examination

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Attention Deficit and Disruptive Behavior Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 11, 2021
• First Posted: February 24, 2021
• Study Start: January 2, 2018
• Primary Completion: December 31, 2023
• Study Completion: December 31, 2023
• Last Updated: March 28, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)