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临床试验/NCT06532721
NCT06532721招募中不适用

Child Development and Genetic Biomarkers(II): Gene Verification and Data Integration

Chang Gung Memorial Hospital1 个研究点 分布在 1 个国家目标入组 525 人开始时间: 2022年12月1日最近更新:
适应症

试验速览

阶段
不适用
状态
招募中
发起方
入组人数
525
试验地点
1
主要终点
Comprehensive Developmental Inventory for Infants and Toddlers

研究概览

简要总结

The aims of the study include (1) identifying genes associated with child development and developmental delay in Taiwan (2) comparing the differences and similarities between genetic biomarkers of development and developmental delay for children in Taiwan and children from other countries (3) employing precision medicine as the method for genetic screening or test and (4) tracking children's biological, psychological and social adjustment, especially for those who have early-onset developmental delay.

详细描述

The aims of the study include (1) identifying genes associated with child development and developmental delay in Taiwan (2) comparing the differences and similarities between genetic biomarkers of development and developmental delay for children in Taiwan and children from other countries (3) employing precision medicine as the method for genetic screening or test and (4) tracking children's biological, psychological and social adjustment, especially for those who have early-onset developmental delay.

The study will be completed in two phases over three years and will enroll a total of 475 0~40-year-old participants. In the first phase, we will recruit 380 participants. Including 50 participants with typical development, 300 participants with developmental delay and 30 parents to whom have children with severe DD. Then, their genetic data will be compared with genetic data of Chang Gung Hospital and the National Center for Genome Medicine, expect to preliminary find genes associated with child language development. At the same time, 20-30 children with severe developmental delay or have family history of developmental delay will be selected as a pilot study, using whole-exome sequencing (WES) to find other genes associated with development. If the gene deficiency was found in the children, we will invite his or her parents to do WES. In the second phase, we will establish a gene panel according to the genes identified in the previous stage and recruit 95 children with developmental delay to test the gene panel prospectively. The long-term goal of this study is to establish a pioneer study for children

研究设计

研究类型
Observational
观察模型
Case Control
时间视角
Cross Sectional

入排标准

年龄范围
— 至 40 Years(Child, Adult)
性别
All
接受健康志愿者

入选标准

  • Consent signing
  • 0-40 years old
  • Typical development or developmental disabilities

排除标准

  • Central Nervous disease
  • Neuromuscular disease
  • Congenital disease
  • Sensory disorder such as blindness or hearing impairment

结局指标

主要结局

Comprehensive Developmental Inventory for Infants and Toddlers

时间窗: initial assessment

Assess participant's general development.

Assessment of Preschool Children's Participation

时间窗: initial assessment

Assess participant's participation in every day tasks.

Wechsler Preschool and Primary Scale of Intelligence

时间窗: initial assessment

Assess participant's intelligence. Verbal Comprehension Index: * Minimum Value :50 * Maximum Value : 150 * Interpretation : Higher score indicate better verbal reasoning, concept formation, and verbal comprehension abilities. Visual Spatial Index: * Minimum Value :50 * Maximum Value : 150 * Interpretation : Higher score indicate better visual-spatial reasoning and problem solving skills. Fluid Reasoning Index: * Minimum Value :50 * Maximum Value : 150 * Interpretation : Higher score indicate stronger abilities in abstract reasoning and problem solving skills. Working Memory Index: * Minimum Value :50 * Maximum Value : 150 * Interpretation : Higher score indicate better working memory, whic

Peabody Picture Vocabulary Test-Revised

时间窗: initial assessment

Assess participant's language function.

Swanson, Nolan, and Pelham, version IV

时间窗: initial assessment

screen ADHD symptoms.

The Berry-Buktenica Developmental Test of Visual-Motor Integration

时间窗: initial assessment

Assess participant's motor function.

Functional Independence Measure for Children

时间窗: initial assessment

Assess functional abilities of children and adolescents The WeeFIM includes three primary domains: * Self-care: Assesses the ability to perform basic self-care tasks independently. * Mobility: Measures the ability to move from one place to another and perform transfer. * Cognition: Evaluates cognitive abilities related to communication, social skills, and problem-solving. Rating scale: Each of the 18 items is rated on a 7-point scale based on the level of independence. Minimum Score: 18 (indicating complete dependence across all items) Maximum Score: 126 (indicating complete independence across all items) Higher score indicate greater functional independence, meaning the child requires less assistance to perform daily activities. Lower score indicate greater dependence, suggesting the child requires more assistance or is unable to perform certain tasks independently.

Test of Nonverbal Intelligence-Fourth Edition

时间窗: initial assessment

assess participant's intelligence.

Cantab

时间窗: initial assessment

Assess participant's cognitive function Motor Screening Task: * Assess basic motor control and response to visual stimuli. * Measurement: Reaction time and movement time. * Faster response times indicate better motor function. Slower time suggest motor impairments or difficulties in visual processing. Paired Associates Learning: * Tests visual memory and new learning. * Measurement: Number of errors made during the task. * Higher error rated indicate poorer memory performance. Lower error rates suggest better visual memory and associative learning. Spatial Working Memory: * Assess the ability to retain and manipulate spatial information * Measurement: Number of errors and strategy scores. * Fewer errors and better strategy scores indicate better spatial working memory. Rapid Visual Information Processing: * Evaluates sustained attention and vigilance. * Measurements: Detection targets sequences within rapidly presented digits. * Higher hit rates and lower false

Clancy Behavior Scale

时间窗: initial assessment

Help identifying autism symptoms. The scale covers multiple behavioral domains such as aggression, anxiety, social skills, attention and hyperactivity. The scale is administered as a questionnaire where parents, or caregivers rate the frequency and intensity of specific behaviors shown by the children. Responses are given on a Likert scale of 3. Minimum value: The scale's scoring system ranges from 0 (indicating no problematic behavior) to higher value of 2, depending on the number of items and the severity of the behavior assessed. Maximum value: The upper end of the scale is determined by the total number of items and the scoring format. Higher scores typically indicate more frequent or severe behavioral issues, while lower scores suggest fewer or less sever issues.

Children Assessment of Participation and Enjoyment and Preferences for Activity of Children

时间窗: initial assessment

Assess participant's participation in every day tasks. The CAPE and PAC are designed for children and adolescents aged 6 to 21 years. Both tools are typically administered through structured questionnaires or interviews, either in paper form or electronically. CAPE: Helps identify areas where a child may be under-participating, guiding interventions to encourage greater engagement in a wider variety of activities. PAC: Provides insight into activities the child is interested in but may not currently participate in, helping to tailor activities to their preferences. Scoring: CAPE: Higher diversity and intensity scores indicate more varied and frequent participation. Higher enjoyment scores indicate greater pleasure derived from activities. PAC: Higher scores indicate a stronger preference for specific activities.

PedsQL TM

时间窗: initial assessment

Assess participant's quality of life. Core Scales: * Physical Functioning: Assesses difficulties with physical activities, such as walking, running, and participating in sports. * Emotional Functioning: Evaluates feelings of sadness, worry, and anger, as well as overall emotional well-being. * Social Functioning: Measures interactions with peers, the ability to make friends, and feelings or being excluded or bullied. * School Functioning: Assesses difficulties in paying attention in class, missing school due to illness, and keeping up with schoolwork. The PedsQl uses a 5-point likert scale for responses. Higher score indicate better health-related quality of life.

次要结局

未报告次要终点

研究者

发起方
Chang Gung Memorial Hospital
申办方类型
Other
责任方
Sponsor

研究点 (1)

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