ERKsome findings

ERKs are enzymes in cells that perform numerous tasks. In brain cells, ERKs help the cell adapt to changing stimulus and help create new cells. Researchers have found that by reducing the level of ERK2 from midgestation in mice, these mice go on to show social differences, likened to ASD. However, we also  have reason to believe that a child with no ERK2 would not survive. Based on these pieces of information, we would expect that a child experiencing prolonged low ERK2 would likely develop ASD or another psychiatric disorder. Curiously, the opposite appears to be happening in ASD. ERKs are actually increased in the (postmortem) brains of some 8 year-olds with ASD. Particularly ERK5, which is responsible for brain cell death. However, we know how unique each child is with ASD. Whether these changes in ERK are consistent for ASD, selective for this group, or even a consequence of earlier developmental problems will not be known for some time. Animal studies still have some way to go in this regard also. What is clear is the delicate balance of ERK levels for learning and development. And because of this, perhaps now, ERK drug targets will migrate from cancer research towards ASD research.
Randal

ABS releases 2009 data on ASD

The report presents an overview of autism in Australia, including information on prevalence, education, disability, and need for assistance.

Read the free report here

Perinatal and neonatal risk factors

While ASD is not diagnosed until well after birth, there has been accumulating evidence that prenatal and neonatal factors may cause ASD. While genetic mutations remain a large risk factor it is important to keep in mind environmental risk factors. A recent meta-analysis (an analysis of published studies) identifies about 60 perinatal and neonatal risk factors. Factors associated with an increased risk of ASD were abnormal presentation, umbilical-cord complications, fetal distress, birth injury or trauma, multiple birth, maternal hemorrhage, summer birth, low birth weight, small for gestational age, congenital malformation, feeding difficulties, neonatal anemia, Rh incompatibility, and hyperbilirubinemia (jaundice). And those not associated with an increased risk were assisted vaginal delivery, postterm birth, high birth weight, and head circumference. When reading these results it is important to bear in mind a number of things: (1) most of the studies investigated by the group showed inconsistent results with only 30% of studies having sufficient power to allow risk factor correlation, (2) inconsistent results were often due to different study designs, (3) there was no evidence to suggest that only one factor was implicated in ASD, but instead, increased risk resulted from multiple factors, (4) a lot of the factors are related; for example cesarian delivery is often undertaken in cases of foetal distress, hyperbilirubinemia is associated with hypoxia, and feeding difficulties can be associated with any number of preceding factors, (5) these factors are not unique to ASD, but can result in other pervasive developmental disorders, children with lower IQ without ASD, etc, (6) similarly, it is not clear how many of the ASD cases reported also had intellectual disabilities, and importantly, co-morbidities such as Down syndrome, (7) the significant risk factors may be a result of an underlying cause of ASD, which leads to the shared-risk hypothesis, (8) ASD subtypes and symptoms were not distinguishable from the published studies and finally, (9) no maternal factors were considered such as smoking or medication, only foetal or neonatal events. Interestingly, head size was not a risk factor of ASD. This would appear to contradict reports that a subtype of ASD has an enlarged brain, but scientists currently believe that a large head size develops after birth, and hence would not necessarily be picked up at birth, and therefore not included in this study.
Read the full report here.
Randal

Advanced Paternal Age

There is a known increase in risk of chromosomal malformations, including Down syndrome, with advanced maternal age. But research in recent years suggests that the increase in risk of ASD is associated with advanced paternal age. The hypothesis is that there are more opportunities for copy number mutations to occur in the sperm of older fathers. Current research aims at modelling this in rodents. Australian researchers describe this attempt here.

Randal

Jaundice as a cause of ASD?

There has been recent interest in the possibility that jaundice causes autism. This interest has been stimulated by a publication identifying an association with autism and jaundice. Jaundice is the accumulation of blood cell break-down products (billirubin) in the body. In newborns, this is thought to be due to metabolic adjustments. In rare cases, neonatal jaundice can cause brain damage. The first striking aspect of this study is that despite jaundice prevalence of 60% in newborns, the autism prevalence in this study was about 5%. Also a disease called hemolytic disease causes an increase in billirubin but the incidence of ASD in this group was not investigated. Based on the jaundice hypothesis of ASD, it would be expected that there is a very high incidence of ASD in those with hemolytic disease. A further rebuttal of the jaundice hypothesis can be found here. If ASD is a multi-hit disorder - requiring at least two agents for one cause - then jaundice might be a candidate for one of the co-agents.
Randal

BioAutism 2011 Supplementary data and info

Final Program

Presentation by Katrina Williams

Clinical practice by Catherine Marraffa




Prospective cohorts - Andrew Whitehouse




The organisers:
Randal Moldrich, Elisa Hill, Naomi Bishop, Dennis Crowley

BioAutism 2011

See the meeting follow-up page


Invitation to BioAutism 2011


16th February


Early intervention depends on early diagnosis, and many children are currently diagnosed, using behavioural testing, between 2- 4 years of age, or even older (7+ years of age) in the case of some Asperger children.


This present symposium is being held in order to identify those areas and techniques of research currently being carried out in Australia which could be harnessed to produce significant outcomes in  early biological detection of ASD before the onset of behavioural symptoms. Such research is also expected to advance understanding of the underlying aetiology of autism and thus lead to new treatments/interventions for the condition.
Themes: (i) autism etiology, {ii) biomarkers/diagnosis, (iii) treatment/therapies, and (iv) comorbidities/epidemiological issues.  
Other aims: (i) to discuss how to interact with biotech companies to produce significant outcomes in some/all of these themes, (ii) to make people aware of the depth and breadth of biological ASD research in Australia; (iii) to provide networking and collaboration opportunities for these researchers.


Key Speakers:
Dr Catherine Marraffa (RCH Melbourne) Clinical diagnosis and practise
Prof Katrina Williams (RCH Melbourne) Epidemiology
Dr Charles Claudianos (QBI) Developing a diagnostic chip: Molecular systems and autism
Dr David Godler (Uni Melbourne/MCRI) A Novel Diagnostic for Fragile X Syndrome
Assoc Prof Anthony Hannan (HFI) Genes and the environment
Dr Paul Dawson (UQ/MMRI) Sulfate metabolism in autism
Prof Joel Bornstein (Uni Melbourne) Synaptic transmission in intestinal reflex pathways
Plus many others.


Short talk opportunities and poster presentations:
If you wish to present at BioAutism 2011, some short talk opportunities and poster presentations are available. Expressions of interest via half-page abstracts should be emailed to Dr Elisa Hill by Monday January 24  elhill@unimelb.edu.au


Registration (Free, but for catering purposes please RSVP to Dr Elisa Hill by Monday January 24
elhill@unimelb.edu.au


Speaker abstracts will be posted on this ARA blog.


Location Theatre 1(Ground Floor on left of entry), ICT Building, Melbourne University, 111 Barry St, Carlton (Melways 2B C8 and 571 P7)


Registration 08.30. Meeting 09.00-17.00hrs


Public Transport:
Trams 19, 59 (starting from opposite Flinders St Station in Elizabeth St) to the junction of Pelham St and Elizabeth St (Melways 2B C9). Walk east along Pelham St and left into Barry St. 
ICT entry is 60 metres on the left.
Parking is available in the University Square car park (underground). Entry Berkeley St (near corner of Grattan St). Ticket machines on Level 1 outside the East and West lifts.


Organisers: Dennis Crowley (Autism Vic), Drs Elisa Hill (Uni Melbourne), Naomi Bishop (La Trobe Uni) and Randal Moldrich (QBI).


Thanks to Autism Victoria and Science Advantage for sponsoring the meeting.