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Abstract Details

A New Adult Neurodevelopmental Disabilities Clinic: Description of Population and Yield of Genetic Testing in the First Year
Aging, Dementia, and Behavioral Neurology
P5 - Poster Session 5 (11:45 AM-12:45 PM)
7-006

1.    Characterize the patient population seen in the first year of a newly developed Adult Neurodevelopmental Disabilities (NDD) Clinic.

2.    Demonstrate yield of genetic testing in adults with neurodevelopmental disabilities (NDD).

As patients with NDD transition from pediatric to adult healthcare systems, they often have difficulty finding providers who address their NDD-related needs, including revisiting the etiologic workup of their NDD. In response to this care, a new consultation clinic was established in an adult neurology department to address neurodevelopmental concerns of these adult patients and provide etiologic workup, including genetic testing.
Data was obtained by a retrospective chart review of all 79 patients seen in the adult Neurodevelopmental Disabilities (NDD) clinic from September 2020 through September 2021.
The average age was 35 years (median 28 years), ranging from 18 to 80 years. Developmental diagnoses included but were not limited to autism spectrum disorder (47%), intellectual disability (44%), Down syndrome (15%), cerebral palsy (8%) and other genetic disorders (27%). Comorbidities addressed included anxiety (in 27% of patients), behavioral concern (22%), seizures (18%), and depression (11%). 21 patients (27%) had previous genetic testing that included Chromosomal Microarray (CMA), Autism Spectrum Disorder/Intellectual Disability Panel (ASD/ID Panel), or Whole Exome/Whole Genome Sequencing (WES/WGS), before the new clinic. New genetic testing was completed in 17 patients (21.5% of the overall cohort). A pathological variant was identified in 6/17 (35%). Diagnoses were established by CMA in 3/11 (27%), ASD/ID panel in 2/5 (40%), and WES in 1/1 (100%).

Our study characterized the diversity of developmental disabilities and comorbidities addressed in a new specialty Adult NDD clinic. Our data also revealed the high yield, and importance of, revisiting etiologic diagnoses in adults with NDDs, as many patients seen in this clinic were provided with genetic diagnoses for the first time as adults.
Authors/Disclosures
Moriah Mabry
PRESENTER 		Ms. Mabry has nothing to disclose.
No disclosure on file
Jessica Sanders, MD (University of Colorado) The institution of Dr. Sanders has received research support from Child Neurology Foundation. The institution of Dr. Sanders has received research support from NIH. The institution of Dr. Sanders has received research support from HRSA.