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Autism Spectrum Disorders
The Facts In Australia
1 in 100 children in Australia has ASD
More prevalanet than
25 fold increase over the past 30 years
Highly observed in age 5-14 years
More commonly found in males
This is consistent with overseas estimates. For example, The Centre for Disease Control and Prevention in the US placed the female prevalence rate at somewhere between 17% and 20%
The average age at diagnosis is 3-5 years (but can recognize at 0-3 years). Poor socialization (>2 DSM-IV criteria) and delayed/deviant communication is observed. Also, it is found impaired behaviors, such as repetitiveness, compulsivity, restriction, or stereotypy. 60% of autism cases have intellectual disability.
Generally children age 6-8 years with Asperger's Syndrome are diagnosed. No early delay in communication but qualitative impairment later. Behavioral phenotypes are similar to autism but it is characterized by a mild range (or none) of intellectual disability.
Pervasive Developmental Disorder - not otherwise specified (PDD-NOS) has variable ranges of phenotypes in age of recognition/diagnosis, regression, intellectual disability (mild to severe) and impaired socialization/communication/behaviors.
20 fold increase in risk for 1st relatives
90 co-occurence in identical twins
103 genes and 44 genomic loci found so far
Brief Look for ASD Candidate Genes
Rare CNV Variants and balanced chromosomal abnormalities
Deletion of the short arm of Chromosome 3
Association with intergenic region
Homozygous Recessive Mutation
Assocation and Functional Studies
SNP in a Regulatory Upstream
Deletions and duplications
De novo and transmitted structural and sequence variation
Functional missense mutation
Found nonsense mutation