Global Developmental Delay
Conditions
Interventions
Gold Standard:Clinical phenotypes
digital droplet PCR (ddPCR)
 
blocker 
(BDA)
Sponsors
Children's Hospital of Shanghai
Eligibility
Sex/Gender
All
Age
No minimum to 5 Years
Inclusion criteria
Inclusion criteria: Global developmental delay patients aged between 0-5 years old without any external trauma, medication, tumor, etc. as causal factors, having high risk concomitant conditions such as preterm birth, extremely low birth weight, intrauterine growth restriction, perinatal infections, perinatal asphyxia, nervous system diseases (e.g. neonatal hypoxic-ischemic encephalopathy, syncope, intracranial hemorrhage, purulent meningitis), respiratory system diseases (e.g. patients on ECMO or other respiratory support, acute respiratory distress syndrome, bronchopulmonary dysplasia), metabolic system diseases, persistent feeding problems, persistent hypoglycemia, hyperbilirubinemia, and dysmorphia.
Exclusion criteria
Exclusion criteria: 1. Patients with a family history of rare hereditary diseases outside the scope of the study tests; 2. Patients with a family history of chromosomal anomalies; 3. Patients with phenotypes causes by medical malpractice during the perinatal period; 4. Patient children of mother given extensive blood transfusion during labour; 5. Patient children born after mother had surgeries or teratogenic drugs; 6. Patient children born after mother had tumors during pregnancy; 7. Patient children born after mother experienced long periods of radiation or exposed to hazardous chemicals; 8. Patients with incomplete pedigrees.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Nucleotide sequences;SEN, SPE, ACC, AUC of ROC; | — |
Countries
China
Contacts
Public ContactJia Jia
Children's Hospital of Shanghai
Outcome results
None listed