advocating for children with special needs: investigating the genetics of autism andrea patrico...
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ADVOCATING FOR CHILDREN WITH SPECIAL NEEDS: INVESTIGATING THE GENETICS OF AUTISM
Andrea Patrico November 17th, 2010
Developmental Disorders Genetics Research ProgramDr. Eric Morrow
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: 468-479.
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!