Autism the facts in Australia

Autism Spectrum Disorders

The Facts In Australia



Prevalence

1 in 100 children in Australia has ASD

More prevalanet than

Cerebral Palsy

Diabetes

Deafness

Blindness

Leukaemia



25 fold increase over the past 30 years



Highly observed in age 5-14 years



18% female

82% male



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%



Diagnosis



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.



Asperger

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.



PDD

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.



Genetics



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



Chromosome 2

Neurexin 1

Rare CNV Variants and balanced chromosomal abnormalities



Chromosome 3

Contactin 4

Deletion of the short arm of Chromosome 3



Chromosome 5

5P 14.1

Association with intergenic region



Chromosome 7

CNTNAP2

Homozygous Recessive Mutation

Engrailed 2

Assocation and Functional Studies

Met Oncogene

SNP in a Regulatory Upstream



Chromosome 16

16P 11.2

Deletions and duplications



Chromosome 22

SHANK3

De novo and transmitted structural and sequence variation



Chromosome X

Neuroligin 3

Functional missense mutation

Neuroligin 4X

Found nonsense mutation AUTISM SPECTRUM DISORDERS THE FACTS IN AUSTRALIA PREVALENCE DIAGNOSIS GENETICS 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 ARE OBSERVED. ALSO, IT IS FOUND IMPAIRED BEHAVIORS, SUCH AS REPETITIVENESS, COMPULSIVITY, RESTRICTION, OR STEREOTYPY. 60% OF AUTISM CASES HAVE INTELLECTUAL DISABILITY. 3 AUTISM 1 IN 100 CHILDREN CURENCEA1 GENES AND 44 GENOMIC CREASE 20 90 103 IN AUSTRALIA HAVE ASD 1) I BRIEF LOOK MORE PREVALENT THAN FOR ASD CANDIDATE GENES" 4) CERABRAL PALSY DIABETS CHROMOSOME 2 NEUREXIN 1 RARE CNV VARIANTS AND BALANCED CHROMOSOMAL ABNORMALITIES DEAFNESS BLINDNESS LEUKAEMIA CHROMOSOME 3 CONTACTIN 4 25. DELETION ON THE SHORT ARM OF CHROMOSOME 3 INCREASE OVER THE PAST 30 YEARS CHROMOSOME 5 5P 14.1 ASSOCIATION WITH INTERGENIC REGION 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 COR NONE) OF INTELLECTUAL DISABILITY. HIGHLY OBSERVED IN ASPERGER CHROMOSOME 7 AGE 5-14 YEARS CNTNAP2 HOMOZYGOUS RECESSIVE MUTATION ENGRAILED 2 ASSOCIATION AND FUNCTIONAL STUDIES MET ONCOGENE SNP IN A REGULATORY UPSTREAM CHROMOSOME 16 I 16P 11.2 DELETIONS AND DUPLICATIONS PERVASIVE DEVELOPMENTAL DISORDER- NOT OTHERWISE SPECIFIED (PDD-NOS) HAS VARIABLE RANGES OF PHENOTYPES IN AGE OF RECOGNITION/DIAGNOSIS, REGRESSION, INTELLECTUAL DISABILITY MORE COMMONLY FOUND IN MALES MILD TO SEVEREJ AND IMPAIRED 18% 82% CHROMOSOME 22 PDD SHANK3 DE NOVO AND TRANSMITTED STRUCTURAL AND SEQUENCE VARIAION SOCIALIZATION/COMMUNICATION/BEHAVIORS. CHROMOSOME X 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% NEUROLIGIN 3 FUNCTIONAL MISSENSE MUTATION NEUROLIGIN 4X FOUND NONSENSE MUTATION 1) BARON-COHEN, S., 2009,THE BRITISH JOURNAL OF PSYCHIATRY 2) HTTP://WwW.ABS.GOV.AU/AUSSTATS/ 3) LEVY SE., 2009, LANCET 3) EAPEN V., 2011, CURRENT OPINION IN PSYCHIATRY CREATED BY JOONOMICS J.AN [email protected] LOCI FOUND SO FAR