Year 1

Childhood Neurodevelopmental Disabilities (NDDs) affect approximately 12% of children in the US, and account for >5% of total healthcare costs. The ability to use induced pluripotent stem cells (iPSCs) to incorporate characteristics of patient cells into models that predict patient disease characteristics and clinical outcomes can have a major impact on care for the children with these conditions. We have proposed to ascertain pediatric patient samples which represent a range of NDDs including Autism Spectrum Disorders (ASD), Intellectual Disability (ID), Cerebral Palsy (CP) and Epilepsy for iPSC banking. These disorders were chosen because they have high heritability rates but remain genetically complex, and therefore, will greatly benefit from further in-depth study using iPSCs

To date we have enrolled 128 patients (72 affected patients, 56 healthy control patients) representing a range of racial and ethnic backgrounds (39% White, 2% Black, 2% Asian, 57% Arabic/Middle Eastern) and both genders (52% Male, 48% Female). The patients in the affected patient group carry a primary diagnosis of one of the NDD disease categories (19% Autism Spectrum Disorder, 44% Epilepsy, 28% Intellectual Disability, 9% Cerebral Palsy). Approximately half of the patients are comorbid for one or more of the other disorders. The control patients consist of healthy family members of the affected patient group. Since family members share many common DNA features this will help us better identify and hone in on disease causing variants more effectively.

iPSC lines have not yet been returned from these patients so there are no research results to report at this time. We are continuing with our recruitment efforts to reach our goal of 450 affected patients and 100 healthy controls.