Autism spectrum disorder Mental and Behavioural Disorders Childhood autism
Conditions
Interventions
Current interventions as of 03/11/2023:
Upon the provision of informed consent, the participants with autism and their family members will have 5-10 ml of blood drawn for genetic analyses. The mothe
Sponsors
Chinese University of Hong Kong
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Current inclusion criteria as of 03/11/2023: 1. Reported by the parents to be autistic or autism spectrum disorder (ASD) with confirmation from health care professional workers. The probands must have received a valid and reliable assessment and must meet cutoffs for autism spectrum or autism. (e.g. the newest Autism Diagnostic Observation Schedule [ADOS] algorithms to be used for Modules 1 - 3 and the original cutoff algorithms to be used for Module 4; or a clinical “Best Estimate Diagnosis,” of Autistic Disorder, Asperger’s Disorder, or Pervasive Developmental Disorder-Not Otherwise Specified [PDD-NOS], according to the Diagnostic and Statistical Manual of Mental Disorders [DSM-IV-TR]). 2. Age: The proband must be aged 2 or above when the phenotype measures are administered, any first and second-degree relatives and their parents (autistic or not) will also be recruited in anticipation that these samples will be valuable resources for further understanding of the genetic factors that might contribute to the phenotype. 3. Being ethnic Chinese _____ Previous inclusion criteria: 1. Reported by the parents to be autistic or autism spectrum disorder (ASD) with confirmation from health care professional workers. The probands must have received a valid and reliable assessment and must meet cutoffs for autism spectrum or autism. (e.g. the newest Autism Diagnostic Observation Schedule [ADOS] algorithms to be used for Modules 1 - 3 and the original cutoff algorithms to be used for Module 4; or a clinical “Best Estimate Diagnosis,” of Autistic Disorder, Asperger’s Disorder, or Pervasive Developmental Disorder-Not Otherwise Specified [PDD-NOS], according to the Diagnostic and Statistical Manual of Mental Disorders [DSM-IV-TR]). 2. Age: The proband must be between 2 to 18 years of age when the phenotype measures are administered, any first and second-degree relatives and their parents (autistic or not) will also be recruited in anticipation that these samples will be valuable resources for further understanding of the genetic factors that might contribute to the phenotype. 3. Being ethnic Chinese
Exclusion criteria
Exclusion criteria: Current exclusion criteria as of 03/11/2023: 1. With significant injury, abnormality, or disease having effects upon the brain, extensive complications during birth or pregnancy (careful screening will be carried out for those who stayed in the hospital for more than 3 days after birth) 2. With sensory or motor deficits that preclude the effective use of the diagnostic tools 3. Other known genetic disorder: e.g. Down's syndrome, or Fragile X syndrome 4. Those diagnosed with a known genetic disorder, and those with a psychiatric disorder requiring medication _____ Previous exclusion criteria: 1. With significant injury, abnormality, or disease having effects upon the brain, extensive complications during birth or pregnancy (careful screening will be carried out for those who stayed in the hospital for more than 3 days after birth) 2. With sensory or motor deficits that preclude the effective use of the diagnostic tools 3. With significant nutritional and psychological deprivation 4. Other known genetic disorder: e.g. Down's syndrome, or Fragile X syndrome 5. Those diagnosed with a known genetic disorder, and those with a psychiatric disorder requiring medication
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Current primary outcome measure as of 03/11/2023: Measured at a single timepoint: 1. Success rate for systematic recruitment and ascertainment of autistic subjects who had no positive findings in previous genomic studies for the genotype and phenotype study of Hong Kong Chinese children using optical mapping. This will be measured by records of the number of individuals approached, the number of individuals recruited to the study, and the number of approached individuals who refused to participate in the study. These records will be taken during participant recruitment. 2. Structural variants in genes that are associated with autism, assessed via genetic analyses of the DNA extracted from the participants’ blood samples. _____ Previous primary outcome measure: Measured at a single timepoint: 1. Success rate for systematic recruitment and ascertainment of autistic subjects who had no positive findings in previous genomic studies for the genotype and phenotype study of Hong Kong Chinese children using optical mapping. This will be measured by records of the number of individuals approached, the number of individuals recruited to the study, and the number of approached individuals who refused to participate in the study. These records will be taken during participant recruitment. 2. Structural variants in genes that are associated with autism in children, assessed via genetic analyses of the DNA extracted from the participants’ blood samples | — |
Secondary
| Measure | Time frame |
|---|---|
| Endophenotypes in carriers of autism susceptibility risk alleles, assessed via clinical records at a single timepoint | — |
Countries
Hong Kong
Contacts
Public ContactMary Miu Yee Waye
Outcome results
None listed