Autism spectrum disorders appear very early in a child’s life, generally before the age of three, and are characterised by problems in the following areas of development: social interaction, communication skills, and Individual children with autism spectrum disorders may present with very different sets of symptoms, and with widely varying degrees of severity.
Autism affects approximately 1 in 160 individuals, and is more common in males than females. It is a neurodevelopmental disorder which usually appears very early, before the age of 3 years. Symptoms of autism include problems in social communication, both verbal and non-verbal, difficulties understanding of what other people are feeling or thinking, and having restricted ranges of interest or difficulty tolerating change. Some level of intellectual disability frequently accompanies autism. Many individuals with autism also have problems with being either more or less sensitive to sensory stimuli such as sounds, light, and textures; difficulties with sleep; and high levels of anxiety or difficulty concentrating.
Autism is very heterogeneous, both in which symptoms most affect a person, and the severity of symptoms. While autism affects most people throughout their lifespan, the course can be quite different for different people, with some having significant improvement in symptoms as they get older, while other remaining unchanged or developing new problems such as seizures. People with autism can also develop other mental health problems, such as depression.
While we do not know exactly what causes autism, it likely comes about through a combination of genetic and environmental factors that affect the developing brain. Over a hundred different genes have been associated with the risk for autism. The current name “Autism Spectrum Disorders” reflects the likelihood that what we call autism probably represents a range of neurodevelopmental syndromes that may have different causes. One of the great challenges for research in autism is to try to better understand how differences between individuals with autism relate to how they respond to different kinds of interventions.
Together with Professor Peter Schofield (NeuRA) and Professor Philip Mitchell (Black Dog Institute), our group is investigating the genetic contributors to bipolar disorder using Australian families with multiple individuals who have been diagnosed with the disorder.
The group previously identified a bipolar susceptibility locus located on chromosome 15 in a pooled analysis of 35 families. More detailed analysis of this region has identified a single gene, which confers an increased susceptibility to both bipolar disorder and schizophrenia, and has also been implicated as a risk factor for autism.
The group is now aiming to understand how alterations in ST8SIA2 translate into an increased genetic susceptibility by characterising alterations in the DNA, RNA and protein product of this gene and its interaction partners in patients with either bipolar disorder or schizophrenia.
NeuRA is committed to fostering the work of our young researchers who hold the future of myriad health initiative in their hands. Young investigators are a crucial source of energy, enthusiasm and ideas as they strive to find new cures and help promote the well-being of all Australians… Improving movement after stroke Lewis Ingram and Mayna Ratanapongleka are working with […]