ADVOCATING FOR CHILDREN WITH SPECIAL NEEDS: INVESTIGATING THE GENETICS OF AUTISM

Andrea Patrico November 17th, 2010

Developmental Disorders Genetics Research ProgramDr. 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: 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!

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