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Explore the variant burden, De Novo Mutation (DNM) spectrum of childhood early-onset neurodevelopmental disorders and the mutagenesis of DNM using Exome-wide analysis

Explore the variant burden, De Novo Mutation (DNM) spectrum of childhood early-onset neurodevelopmental disorders and the mutagenesis of DNM using Exome-wide analysis

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2000038088
Enrollment
Unknown
Registered
2020-09-10
Start date
2020-10-01
Completion date
Unknown
Last updated
2020-11-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Neurodevelopmental, genetic, metabolic diseases and mental disorders in children and adolescents

Interventions

Case group:None
Control group:none

Sponsors

Capital Institute of Pediatrics
Lead Sponsor

Eligibility

Sex/Gender
All
Age
No minimum to 6 Years

Inclusion criteria

Inclusion criteria: 1) Children with ASD and ID/DD less than 6 years old; 2) for children less than 3 years old, neuropsychological and behavioral assessment is needed, and the scale indicates that any two of the three dimensions (see experimental means) are lower than the specified score; 3) for children older than 3 years old, families are required to provide the basis for the existence of the above symptoms before the age of 3 and the corresponding medical data; 4) Blood and urine metabolism, blood biochemistry and chromosome tests are normal; 5) there are no other systematic malformations.

Exclusion criteria

Exclusion criteria: 1) Identify patients with NDD phenotype due to high fever and brain infection / injury / surgery; 2) patients with metabolic diseases indicated by hematuria metabolic screening; 3) patients with ASD or ID with previous genetic diagnosis (chromosomal disease, genomic disease, genetic metabolic disease, mitochondrial disease, panel sequencing); 4) patients with simple convulsion / epilepsy / ADHD.

Design outcomes

Primary

MeasureTime frame
Gene mutation site;

Countries

China

Contacts

Public ContactXiaoliChen

Capital Institute of Pediatrics

cxlwx@sina.com+86 15901577682

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026