Autism
Autism Phenome Project aims to redefine autism by identifying distinct subtypes
By UC Davis
Mar 10, 2006, 21:30

Multidisciplinary teams of physicians and scientists at the University of California, Davis, M.I.N.D. Institute have launched the nation's most comprehensive assessment of children with autism to detect the biological and behavioral patterns that define subtypes of the disorder.

Called the Autism Phenome Project, the large-scale, longitudinal study will enroll 1,800 children � 900 with autism, 450 with developmental delay and 450 who are typically developing � who will undergo a thorough medical evaluation in addition to systematic analyses of their immune systems, brain structures and functions, genetics, environmental exposures and blood proteins. Children will be 2 to 4 years old when they begin participating in the study, and their development will continue to be evaluated over the course of several years. The first phase of the research is funded by the UC Davis M.I.N.D. Institute and philanthropic donations.

�Children with autism clearly are not all the same,� said David G. Amaral, research director of the UC Davis M.I.N.D. Institute and co-director of the project. �The tremendous variation leads us to believe that autism is a group of disorders rather than a single disorder � several autisms versus one autism. We are determined to provide the specific biomedical and behavioral criteria that accurately define distinct subtypes.�

Autism has common hallmarks: difficulties initiating and sustaining social interactions, impaired communication skills and restricted, repetitive patterns of behavior. However, these hallmarks vary in severity. In addition, some children with autism can have co-existing conditions such as cognitive impairments, seizures, coordination issues or gastrointestinal difficulties, while others do not. This heterogeneity has been a major obstacle to progress in autism science.

Another obstacle involves access to reliable data. Autism science includes many quality studies on specific aspects of the disorder � from genetics and immunology to behavior and imaging � that can be difficult to combine and compare. With the Autism Phenome Project, UC Davis M.I.N.D. Institute researchers aim to overcome this limitation.

�We spent two years designing the project so that it would be both comprehensive in scope and fully capable of integrating data across disciplines,� said Amaral, a neuroscientist who specializes in brain systems involved in memory, emotion and social behavior. �Our goal is to identify specific types of autism and develop a database of biomedical information that can be shared with the worldwide community of autism scientists. This is crucial to refining our understanding of autism and to developing targeted treatments for a specific 'type' of autism as early as possible so children can reach their fullest potential.�

According to Thomas R. Insel, a physician who is director of the National Institute of Mental Health, the Autism Phenome Project is an important new direction in autism research. �Multifaceted biomedical approaches are exactly what is needed right now,� said Insel. �This is a monumental task, but one that needs to be undertaken if we are to accurately diagnose and treat people with autism.�

While the Autism Phenome Project is ambitious, Amaral believes its successful completion will shorten by decades the road to discovering the causes and treatments of autism, a neurodevelopmental disorder that now affects 1 in 166 children in the United States. The unexplained rise in autism prevalence has frustrated parents and scientists trying to find answers.

�The extraordinary biomedical tools currently available at the M.I.N.D. Institute make it the ideal environment for launching this clinical research effort,� he said. �The time is right for us to build a strong database of information that we can all share in order to speed the discovery process and clarify the variability that now plagues autism research. From there, we can more quickly identify causes and treatments, and by adding collaborative partners we will be able to gather as much information as quickly as possible.�

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