Characterization of (A)Typical Sensorimotor Pathways in Individuals With Autism
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Movement Assessment Battery for Children 3 (MABC3)
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 1 Year 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
Experimental: Clinical, neuropsychological, neurophysiological, and genetic evaluations
All children and their parents enrolled in the study will undergo an assessment of intellectual functioning, and a direct evaluation of motor skills using the Movement Assessment Battery for Children - Thirs Edition (MABC-3). Motor skills will also be assessed indirectly through either a parent or self-completed questionnaire. The motor profile of the participants will be further characterized using kinematic analysis of upper-limb movements during two experimental tasks.
干预措施: clinical assessment (Diagnostic Test)
Experimental: Clinical, neuropsychological, neurophysiological, and genetic evaluations
All children and their parents enrolled in the study will undergo an assessment of intellectual functioning, and a direct evaluation of motor skills using the Movement Assessment Battery for Children - Thirs Edition (MABC-3). Motor skills will also be assessed indirectly through either a parent or self-completed questionnaire. The motor profile of the participants will be further characterized using kinematic analysis of upper-limb movements during two experimental tasks.
干预措施: Neuropsychological examination (Diagnostic Test)
Experimental: Clinical, neuropsychological, neurophysiological, and genetic evaluations
All children and their parents enrolled in the study will undergo an assessment of intellectual functioning, and a direct evaluation of motor skills using the Movement Assessment Battery for Children - Thirs Edition (MABC-3). Motor skills will also be assessed indirectly through either a parent or self-completed questionnaire. The motor profile of the participants will be further characterized using kinematic analysis of upper-limb movements during two experimental tasks.
干预措施: Neurophysiological evaluation (Diagnostic Test)
Experimental: Clinical, neuropsychological, neurophysiological, and genetic evaluations
All children and their parents enrolled in the study will undergo an assessment of intellectual functioning, and a direct evaluation of motor skills using the Movement Assessment Battery for Children - Thirs Edition (MABC-3). Motor skills will also be assessed indirectly through either a parent or self-completed questionnaire. The motor profile of the participants will be further characterized using kinematic analysis of upper-limb movements during two experimental tasks.
干预措施: Genetic evaluation (Diagnostic Test)
结局指标
主要结局
Movement Assessment Battery for Children 3 (MABC3)
时间窗: 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)
时间窗: 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)
时间窗: 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
时间窗: 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).
次要结局
- Magnetic Resonance (MRI)(immediately after the intervention)
- Magnetic Resonance Spectroscopy(immediately after the intervention)
- Exome sequencing(immediately after the intervention)