Child Development and Genetic Biomarkers(II): Gene Verification and Data Integration
NCT Number: NCT06532721
Status: RECRUITING
Study Type: OBSERVATIONAL
Conditions: Developmental Disabilities
Sponsor: Chang Gung Memorial Hospital
Sex: ALL
Age: CHILD, ADULT
Enrollment: 525
Study Design: Observational Model: |Time Perspective: p
Start Date: 2022-12-01
Completion Date: 2025-11-30
Locations: Chang Gung Memorial Hospital, Taoyuan, 241, Taiwan

Summary:
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.

Primary Outcome Measures: Wechsler Preschool and Primary Scale of Intelligence, 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, initial assessment|Test of Nonverbal Intelligence-Fourth Edition, assess participant's intelligence., initial assessment|Cantab, 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, initial assessment|Peabody Picture Vocabulary Test-Revised, Assess participant's language function., initial assessment|Clancy Behavior Scale, 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., initial assessment|Swanson, Nolan, and Pelham, version IV, screen ADHD symptoms., initial assessment|The Berry-Buktenica Developmental Test of Visual-Motor Integration, Assess participant's motor function., initial assessment|Comprehensive Developmental Inventory for Infants and Toddlers, Assess participant's general development., initial assessment|Functional Independence Measure for Children, 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., initial assessment|Assessment of Preschool Children's Participation, Assess participant's participation in every day tasks., initial assessment|Children Assessment of Participation and Enjoyment and Preferences for Activity of Children, 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., initial assessment|PedsQL TM, 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., initial assessment