ADVOCATING FOR CHILDREN WITH SPECIAL NEEDS: INVESTIGATING THE GENETICS OF AUTISM Andrea Patrico November 17 th, 2010 Developmental Disorders Genetics Research Program Dr. Eric Morrow

Developmental Disabilities  Who is in this patient population?  Why are they at risk?

Summer Work: Genetics of Autism  Diagnosis:  Impaired social interaction  Impaired communication  Stereotyped patterns of behavior, interests, or activities  Microarray Testing and Gene Databases  Linking Genotype to Phenotype Filipek, PA., et. al. Practice parameter: Screening and diagnosis of autism. Neurology 2000; 55:

Methods  Recruitment  Clinical Interviews  Family Pedigree  Diagnosis  Birth History/ Development  Co-morbidities  IQ and ADOS testing  Blood Draw & Microarray Testing in Lab Photograph by Frank Giuliani

Initial Findings  Genetically Informative Families  Accessing Hispanic Patients  Protocol  Lack of Research  Accessing Adult Patients  Lack of Research  Long-term Health Outcomes  Epilepsy in Autism  Affects at least 30% in our Sample  Neuroligins, Neurexins, Shank-3, CNTNAP2, SCN1A/2A, SLC9A6, DCX, MEF2C, FOX1, RAB39B, 15q13.3, and various CNVs Miller Mobley/Redux, The Atlantic

Anticipated Further Findings  Important additions to the Polygenic Model of ASD  Support for Genetic Testing among Developmentally Disabled Patients  Support for Research involving Hispanic and Adult Patients  Telling Families’ Stories:  Trends in Resource Utilization  Navigating the Transition to Adulthood  Learn from the Experts!

Thank You!!!  RI Area Health Education Center for your Generous Support!  Dr. Eric Morrow  Dr. Justyna Piasecka Bernabe  Matthew Pescosolido  Alma Guerrero  Brown Summer Research Assistantship