A structural and functional imaging study of autism and its extended phenotype
Lead Research Organisation:
University of Cambridge
Department Name: Psychiatry
Abstract
The reason why autism may develop within one child and yet spare other family members is perhaps one of the most important of the many unanswered questions within autism research. Important clues may lie in the fact that apparently unaffected siblings of individuals with autism often display impairments in thought processes that resemble those seen in autism.
We propose studying forty adolescents with autism (with diagnoses of high functioning autism or Asperger syndrome), forty siblings and forty unrelated controls. By comparing these three groups, we aim to discover factors that relate specifically to autism, in addition to and as distinct from factors that relate to autism-like impairments (regardless of whether the individual has autism or is a sibling).
We will use brain scanning techniques (using magnetic resonance imaging that is safe and does not involve any form of radiation) to record the structure of the brain and measure levels of activity in different parts of the brain whilst the participant is performing predefined activities that are believed to be affected by autism. Our overall goal is to better understand the causes of autism by separating out the relative effects of these different potential factors.
We propose studying forty adolescents with autism (with diagnoses of high functioning autism or Asperger syndrome), forty siblings and forty unrelated controls. By comparing these three groups, we aim to discover factors that relate specifically to autism, in addition to and as distinct from factors that relate to autism-like impairments (regardless of whether the individual has autism or is a sibling).
We will use brain scanning techniques (using magnetic resonance imaging that is safe and does not involve any form of radiation) to record the structure of the brain and measure levels of activity in different parts of the brain whilst the participant is performing predefined activities that are believed to be affected by autism. Our overall goal is to better understand the causes of autism by separating out the relative effects of these different potential factors.
Technical Summary
The reason why autism may develop within one individual and yet spare a sibling is perhaps one of the most important of the many unanswered questions within autism research. Evidence suggests that apparently unaffected siblings of autistic individuals display deficits within cognitive domains that are often impaired in autism.
We propose performing structural and functional magnetic resonance imaging, clinical and neuropsychological assessments on forty adolescents with high functioning autism or Asperger syndrome, forty siblings and forty unrelated controls.
We will analyse cognitive impairments in subject and sibling groups as compared to controls, with the goal of characterising cognitive impairments associated with an extended phenotype of autism. We will compare brain structure and activation across the study groups, with the goal of identifying neuroanatomical and functional correlates of the extended phenotype. Finally we will draw together evidence from our clinical, neuropsychological and neuroimaging analyses with the goal of separating their different contributions to the expression of autism and its extended phenotype.
The characterisation of the extended phenotype of autism in the manner proposed will deliver new understanding as to the manifestation - and hence the potential detection - of autism and its sub-clinical forms at neuroanatomical, brain activation and cognitive levels. In addition to considerably advancing our understanding of autism and its extended phenotype, these new insights will provide opportunities for improvements in diagnostic practice, including better and earlier recognition of autism and its sub-clinical forms.
By separating the potential contributions of different biological and psychological aetiological factors - including abnormalities of brain structure and function and impairments within discrete cognitive domains - to the expression of autism and its extended phenotype, this research will deliver an improved understanding of the causes of autism. Furthermore, understanding the contributions of different aetiological factors may suggest future avenues for therapy in terms of the modulation, where possible, of these individual factors at behavioural or pharmacological levels.
We propose performing structural and functional magnetic resonance imaging, clinical and neuropsychological assessments on forty adolescents with high functioning autism or Asperger syndrome, forty siblings and forty unrelated controls.
We will analyse cognitive impairments in subject and sibling groups as compared to controls, with the goal of characterising cognitive impairments associated with an extended phenotype of autism. We will compare brain structure and activation across the study groups, with the goal of identifying neuroanatomical and functional correlates of the extended phenotype. Finally we will draw together evidence from our clinical, neuropsychological and neuroimaging analyses with the goal of separating their different contributions to the expression of autism and its extended phenotype.
The characterisation of the extended phenotype of autism in the manner proposed will deliver new understanding as to the manifestation - and hence the potential detection - of autism and its sub-clinical forms at neuroanatomical, brain activation and cognitive levels. In addition to considerably advancing our understanding of autism and its extended phenotype, these new insights will provide opportunities for improvements in diagnostic practice, including better and earlier recognition of autism and its sub-clinical forms.
By separating the potential contributions of different biological and psychological aetiological factors - including abnormalities of brain structure and function and impairments within discrete cognitive domains - to the expression of autism and its extended phenotype, this research will deliver an improved understanding of the causes of autism. Furthermore, understanding the contributions of different aetiological factors may suggest future avenues for therapy in terms of the modulation, where possible, of these individual factors at behavioural or pharmacological levels.
