The Seaver Autism Center for Research and Treatment - Assessment Core
Icahn School of Medicine at Mount Sinai
Summary
FOXP1, also known as Forkhead-box Protein P1, is a transcription factor protein belonging to the FOX gene family. Disruptions in the FOXP1 gene cause a phenotype characterized by global developmental delay, speech deficits, mild dysmorphic features, and traits of autism spectrum disorder. This study seeks to characterize FOXP1-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.
Description
Subjects with a variant in the FOXP1 gene will be asked to complete a battery of developmental, behavioral and medical assessments to better characterize gene-related neurodevelopmental deficits. This series of assessments takes place over the course of a three-day period. It includes the Autism Diagnostic Observation Schedule (ADOS), parent interviews regarding developmental history and behavior, a psychiatric evaluation, a neurology assessment, as well as a clinical genetic evaluation that includes a physical and vitals exam. Affected individuals, as well as biologically related siblings, wi…
Eligibility
- Age range
- 2+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Eligible participants must have a documented variant affecting the FOXP1 gene that the research team determines to be likely or definitely pathogenic. * Eligible participants must be at least 2 years of age. Exclusion Criteria: * none
Location
- The Seaver Autism Center for Research and TreatmentNew York, New York