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Detailed Autism Phenotyping
Phenotypic and Genetic Factors in Autism Spectrum Disorders
The study Phenotypic and Genetic Factors in Autism Spectrum Disorders was undertaken to facilitate research on the different subtypes of autism by collecting detailed phenotype data and biological samples from affected individuals and families. Collecting both qualitative and quantitative data on aspects of ASDs captures the core features of autism. As ASDs encompass such a large and heterogeneous population, these data will help to identify the smaller homogeneous populations with similar features that are more amenable to targeted investigations.
Over 425 families have enrolled in this study and the resulting data is in a searchable research database available to qualified researchers. If you are interested in accessing DNA samples or data from this study please visit our Sample and Data Access page. Our researchers have presented initial analyses of the data from the study at major national and international conferences and it is the Consortium’s hope that many more scientists will use this important data set.
In addition to the data, biological samples from over 1500 individuals have been collected and sent to the NIMH repository, thus contributing to one of the largest collection of biological samples from individuals with ASDs and their family members.
Importantly for participating families, parents are provided an extensive feedback report for their use in individual education planning and for working with neuropsychologists and other medical professionals. The report can be used to strengthen parent advocacy for particular services offered through early intervention and through IEPs.