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

• ClinicalTrials.gov Identifier: NCT04769011
• Recruitment Status: Completed
• First Posted: February 24, 2021
• Last Update Posted: March 28, 2024
• Sponsor: IRCCS Eugenio Medea
• Information provided by (Responsible Party): IRCCS Eugenio Medea

Tracking Information

• First Submitted Date: February 11, 2021
• First Posted Date: February 24, 2021
• Last Update Posted Date: March 28, 2024
• Actual Study Start Date: January 2, 2018
• Actual Primary Completion Date: December 31, 2023 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: February 23, 2021)

• Movement Assessment Battery for Children 2 (MABC2) [ Time Frame: immediately after the intervention ]
  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.
• Developmental Coordination Disorder Questionnaire (DCDQ) [ Time Frame: immediately after the intervention ]
  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.
• kinematic analysis of a reach-to-drop task [ Time Frame: immediately after the intervention ]
  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.
• Magnetic Resonance (MRI) [ Time Frame: immediately after the intervention ]
  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)
• Diffusion Tensor Imaging (DTI) [ Time Frame: immediately after the intervention ]
  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
• Exome sequencing [ Time Frame: immediately after the intervention ]
  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).

• Original Primary Outcome Measures: Same as current
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Motor Impairments in Children With Autism Spectrum Disorder: a Multimodal Approach
• Official Title: Motor Impairments in Children With Autism Spectrum Disorder: a Multimodal Approach
• 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.
• Detailed Description: Not Provided
• Study Type: Interventional
• Study Phase: Not Applicable
• Study Design: Allocation: N/A; Intervention Model: Single Group Assignment; Masking: None (Open Label); Primary Purpose: Diagnostic

Condition

• Autism Spectrum Disorder
• Attention Deficit Hyperactivity Disorder
• Intellectual Disability

Intervention

• Diagnostic Test: Clinical evaluation
  Clinical evaluation of participants by means of Autism Diagnostic Observation Schedule, Social Responsiveness Scale, Children Behavior Check List, Conners' Scale
• Diagnostic Test: Neuropsychological evaluation
  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).
• Diagnostic Test: Neurophysiological evaluation
  Magnetic Resonance Imaging (structural MRI and DTI)
• 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. 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.

Study Arms

Experimental: Clinical, neuropsychological, neurophysiological, and genetic evaluations

Clinical, neuropsychological, neurophysiological, and genetic evaluations

Interventions:

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

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Completed
• Actual Enrollment (submitted: March 27, 2024): 106
• Original Estimated Enrollment (submitted: February 23, 2021): 80
• Actual Study Completion Date: December 31, 2023
• Actual Primary Completion Date: December 31, 2023 (Final data collection date for primary outcome measure)

Eligibility Criteria

Inclusion Criteria:

• 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

Exclusion Criteria:

• 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.

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 1 Year to 14 Years (Child)
• Accepts Healthy Volunteers: Yes
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: Italy

Administrative Information

• NCT Number: NCT04769011
• Other Study ID Numbers: 510
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

IPD Sharing Statement

• Plan to Share IPD: No

• Current Responsible Party: IRCCS Eugenio Medea
• Original Responsible Party: Same as current
• Current Study Sponsor: IRCCS Eugenio Medea
• Original Study Sponsor: Same as current
• Collaborators: Not Provided
• Investigators: Not Provided
• PRS Account: IRCCS Eugenio Medea
• Verification Date: March 2024