ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-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: | November 14, 2017 |
| End Date: | November 2079 |
| Contact: | Lara Tang, B.A. |
| Email: | lara.tang@mssm.edu |
| Phone: | 212-241-2993 |
The Seaver Autism Center for Research and Treatment - Assessment Core
ADNP, also known as Activity Dependent Neuroprotective Protein, is a rare neurodevelopmental
disorder caused by mutations encompassing the ADNP gene on chromosome 20. Clinically, ADNP
syndrome is characterized by intellectual disability and global developmental delay. This
study seeks to characterize ADNP-related neurodevelopmental disorders using a number of
genetic, medical and neuropsychological measures.
disorder caused by mutations encompassing the ADNP gene on chromosome 20. Clinically, ADNP
syndrome is characterized by intellectual disability and global developmental delay. This
study seeks to characterize ADNP-related neurodevelopmental disorders using a number of
genetic, medical and neuropsychological measures.
Subjects with a variant in the ADNP 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 ADNP 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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