Autism Phenome Project (APP) and Autism Genetic Resource Exchange (AGRE)
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 MIND Institute, and other details that may be helpful for you.
According to the most recent statistics from the Centers for Disease Control, nearly 1 in 110 children born today have or will eventually have autism. That means that an estimated 1.5 million Americans and their families struggle with a neurodevelopmental disorder that can limit a child's lifelong potential for independence. Autism has no cure. Its symptoms and severity differ among individuals with the same diagnosis, yet all affected by the disorder have impaired communication skills, difficulties initiating and sustaining social interactions and restricted, repetitive patterns of behavior and/or interests.
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.
We are no longer recruiting new subjects at this time.
Led by MIND 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 MIND 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 MIND 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 blood 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 MIND 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 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.
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.
- 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.
The Autism Phenome Project is funded through philanthropy and NIH grants. We welcome private contributions to help fund the APP, expand the project nationally and carry it through to completion.
To donate, please go to the Health Systems' Online Donation Form and designate “APP” in the “Special instructions for this gift”.