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ChiCTR2600125751
尚未开始
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2026-05-30
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Autism Spectrum Disorder
To investigate structural variations (SVs) in autism spectrum disorder (ASD) and related endophenotypes
To investigate structural variations (SVs) in autism spectrum disorder (ASD) and related endophenotypes
This study aims to investigate the association of mutations in MAU2 and ZFHX3, as well as other structural variants, with autism spectrum disorder (ASD) in individuals from Hong Kong. To explore distinct clinical features associated with MAU2 and ZFHX3, and other potential SVs mutations in ASD.
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Alice Ho Miu Ling Nethersole Charity Foundation
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400
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2026-04-08
2029-09-30
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1 Reported by parents to be autistic or 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 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 PDD-NOS, according to the ADOS or DSM-IV-TR or DSM-5 or DSM-5-TR). 2 Age: The proband that age between 1 and 18 years old, their parents and any first-degree relatives (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 1 Reported by parents to be autistic or 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 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 PDD-NOS, according to the ADOS or DSM-IV-TR or DSM-5 or DSM-5-TR).2 Age: The proband that age between 1 and 18 years old, their parents and any first-degree relatives (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；
请登录查看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 significant nutritional and psychological deprivation*. 3 Other known genetic disorders: e.g. Down's syndrome, or Fragile X syndrome. 4 Those diagnosed with a known genetic disorder, and those with a psychiatric disorder require medication.；
请登录查看The Nethersole School of Nursing, The Chinese University of Hong Kong
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