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Clinical Genetic Phenotyping Of Autism Spectrum Disorders
Funder
National Health and Medical Research Council
Funding Amount
$582,114.00
Summary
Individuals with autism spectrum disorders (ASD) have difficulty with communication, social interaction and intellectual disability. The cause is generally not known although most cases have a genetic basis involving multiple genes and possibly environmental factors. We will study families of children with ASD and carefully characterize features related to ASD in family members. This will help us to understand how ASD is inherited and serve as the basis for the discovery of autism genes.
A Study Addressing Motor, Cognitive And Attentional Deficits In Presymptomatic Gene Carriers For Huntington's Disease
Funder
National Health and Medical Research Council
Funding Amount
$180,330.00
Summary
Since the discovery of the Huntington's disease (HD) gene mutation there has been much controversy in the literature relating to whether there are any preclinical deficits in individuals who are gene positive for HD but who have not yet been clinically diagnosed with the disease. Our aim is to examine, over a three year period, the cognitive, attentional and motor performance of presymptomatic gene-positive, and negative, individuals on a wide variety of computerized experimental procedures, whi ....Since the discovery of the Huntington's disease (HD) gene mutation there has been much controversy in the literature relating to whether there are any preclinical deficits in individuals who are gene positive for HD but who have not yet been clinically diagnosed with the disease. Our aim is to examine, over a three year period, the cognitive, attentional and motor performance of presymptomatic gene-positive, and negative, individuals on a wide variety of computerized experimental procedures, which we have previously shown to be sensitive to deficits in individuals who have already been diagnosed with HD. If progressive behavioural changes in gene-positive individuals can be reliably documented to occur before the clinical symptoms of HD are evident, this would be of profound significance as it would allow a set of criteria to be established to assist in early detection of clinical onset of symptoms, and possibly permit use of newly-emerging therapies.Read moreRead less
An Examination Of Motor Functioning In Autism And Asperger's Disorder: An Analysis Of Gait & Cortical Brain Activity.
Funder
National Health and Medical Research Council
Funding Amount
$120,220.00
Summary
Autism is a developmental disorder characterised by a triad of deficits: delayed and atypical language development, impaired development of social skills, and ritualistic and stereotypic behaviour. Although not part of the standard diagnosis, movement disorders and gait abnormalities have been clinically observed in autism similar to those seen in Parkinson's disease. In addition, individuals with Asperger's disorder may appear more clumsy, have a stiff or awkward way of walking, and exhibit poo ....Autism is a developmental disorder characterised by a triad of deficits: delayed and atypical language development, impaired development of social skills, and ritualistic and stereotypic behaviour. Although not part of the standard diagnosis, movement disorders and gait abnormalities have been clinically observed in autism similar to those seen in Parkinson's disease. In addition, individuals with Asperger's disorder may appear more clumsy, have a stiff or awkward way of walking, and exhibit poor coordination in posture and gesture. It has been suggested that there is disruption within the basal-ganglia-thalamocortical circuitry (the region connecting the frontal and sub-cortical structures), which may cause the motor dysfunction seen in autism and Asperger's disorder. Few studies have attempted to isolate particular stages of motor functioning which may account for the coordination and motor delay observed clinically in autism and Asperger's disorder. A recent study of ours found evidence to suggest that motor planning deficiencies may account for the 'clumsy' movement patterns frequently reported in the autism - Asperger's disorder literature. Therefore, the aim of this research is to provide a comprehensive neurobehavioural and neurophysiological analysis of motor functioning in young people with autism and Asperger's disorder to further examine the exact stages of motor processing which are deficient in these disorder groups. Recent retrospective studies have shown that even as infants children with autism exhibit clear features of motor disturbance, which, if detected and clearly defined, could advance early diagnosis. In addition to advancing the clinical definition of autism and Asperger's disorder, a careful examination of motor disturbance may also illuminate the neurobiological underpinnings of these disorders.Read moreRead less