FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology, Psychiatric, Psychiatric, Autism |
| Therapuetic Areas: | Neurology, Psychiatry / Psychology |
| Healthy: | No |
| Age Range: | 2 - Any |
| Updated: | 10/27/2018 |
| Start Date: | March 28, 2016 |
| End Date: | March 2020 |
| Contact: | Lara Tang, B.A. |
| Email: | lara.tang@mssm.edu |
| Phone: | 212-241-2993 |
The Seaver Autism Center for Research and Treatment - Assessment Core
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.
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.
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, will also
undergo a series of sensory assessments, including a research EEG, visual evoked potential,
and an eyetracking assessment. Family members present for the visit will also be asked to
provide a blood and/or saliva sample for research genetics.
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, will also
undergo a series of sensory assessments, including a research EEG, visual evoked potential,
and an eyetracking assessment. Family members present for the visit will also be asked to
provide a blood and/or saliva sample for research genetics.
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:
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