Welcome to the Autism Phenome Project Website!   The purpose of the website is to provide participants and interested families with information that will be useful in learning more about our study.  This information includes a description of the study and visits, list of team members, frequently asked questions, staff contacts, directions for your visits to the M.I.N.D. Institute, and other details that may be helpful for you.  We update this website regularly, and welcome your feedback. (Contact: Susan Rumberg, Family Support Liaison, susan.rumberg@ucdmc.ucdavis.edu)

Click here for a welcome message from David G. Amaral, Ph.D.

Click here for a welcome message from Sally J. Rogers, Ph.D.

One of the major roadblocks to understanding the causes of, and finding effective treatments for, autism is that it has diverse outcomes. Some individuals have seizures, but others do not. Some have troubling gastrointestinal problems, but others have none. Some have severe developmental delays, but others have normal or even enhanced IQs. This heterogeneity raises the possibility that there are several types of autism, with a variety of causes. This complexity limits both scientific progress and the development of effective treatments. Thus far, research on autism has not produced precise definitions of autism subtypes based on biomedical and behavioral characteristics.

The Autism Phenome Project or "APP" is the largest and most comprehensive assessment of children with autism ever attempted. It aims to distinguish among recognized subgroups, or phenotypes, of autism. It will link these different forms of autism with distinct patterns of behavior and biological changes.

To learn more about the APP study:  eligibility requirements, expected outcomes, the collaborative process, family support, and funding, click on the specific pieces of the study puzzle.

• Between ages 2 to 3-1/2 when he/she begins the study.
  
• Diagnosis of autism or typical development.
  
• Live with at least one biological parent.
  
• Must understand English.

• A new system for categorizing distinct kinds of autism
• Novel prevention and treatment strategies for the different kinds of autism
• A database of features that define autism spectrum disorders
• A foundation for future research into the causes of the various forms of autism
• Results that will pave the way for possible cures

Led by M.I.N.D. Institute Research Director David G. Amaral, a multi-disciplinary team of scientists began a pilot study in 2006 of 55 children and their families. Over 52 M.I.N.D. Institute scientists from eight research areas are taking part in the APP. The project, which has been in the design phase for two years, ultimately will include 1,800 children at multiple sites across the country, including the National Institute of Mental Health and, perhaps, internationally. The study includes children 2 to 3-1/2 years of age. Data gathered from children with autism will be compared to that from children with typical development. The APP is a longitudinal study with families returning for follow-up evaluations for several years. During the first year of the project, each participating child is involved in the following research areas, which may include some done in coordination with the child's participation in the M.I.N.D. Institute's CHARGE (CHildhood Autism Risks from Genetics and the Environment) study. Click here to learn more about the CHARGE study and visit the APP Experience for details about testing sessions.

• Medical evaluations An initial exam is conducted by a pediatrician with expertise in developmental disorders. Standard data on height, weight and head circumference is gathered, as well as urine, blood, hair and cheek swab samples. Some of these samples are gathered from siblings and parents, as well. Parents are asked questions related to the child's exposures to environmental toxins, household products and about their dietary habits. Families are also asked to submit medical histories and existing medical records. Every effort is made to minimize the number of invasive procedures, such as blood draws. Specialized pediatric procedures and preparation materials have been developed in conjunction with M.I.N.D. Institute staff.
• Environmental exposures/epidemiology Several lines of evidence suggest that more than just genes determine whether or not a child will have autism. The drug thalidomide, viruses and mercury are among the non-genetic causes that have been implicated as causes of the disorders. Therefore, blood and hair of children and mothers are being examined for the presence of metals and environmental toxins. These data will be linked with results from exposure questionnaires.
• Behavior and neuropsychology These assessments consist of established diagnostic interviews, tests, parental questionnaires and observational schedules. For example, one test involves measuring the child's heartbeat while he or she reacts to an unfamiliar and familiar adult and to sensory stimuli, such as the touch of a feather on the neck.
• Genomics This part of the study utilizes the latest in genetic profiling, the microarray, to assess which genes are turned on - and at what levels - in children with autism compared to children without the disorder. This kind of profiling has already been used to classify different kinds of cancer and individualize therapy. In addition, genetic analyses involve looking at several genes and chromosomal abnormalities that have been implicated in the disorder.
• Brain structure Researchers are using the latest imaging technology to determine how each child’s brain has developed, whether brain chemicals are present at normal levels, if blood is flowing properly and whether neurons are connecting and firing as they should. Various tests, including MRI and electroencephalography, are used to gather these data.
• Brain function Although unusual sensory behavioral responses (including under- and over-sensitivity) to touch, sight and sound has long been associated with autism, not all children with autism show a pattern of unusual sensory sensitivity. In the ERP portion of the APP study, we examine sensory sensitivity by measuring auditory event-related potential (ERP) responses to simple sounds played at different loudness levels. ERPs can be measured in a safe, completely non-invasive way using electroencephalography (EEG), a procedure that measures electrical activity of the brain through the skull and scalp. We can collect this data while your child watches a movie of his or her choice, sitting on your lap.
• Immune function Abnormal immune system function, including autoimmunity in which the body attacks its own nervous tissue, has also been implicated in the development and progression of the disorder. Researchers are determining the kind and number of antibodies found in the blood serum of patients and look for markers of inflammation – the products of an immune response – in plasma. Similarly, they assess the level of brain chemicals, hormones, viruses and various cell types present in the child’s blood.