Authors :
Presenting Author: Andrea Miele, PhD – Children's Hospital Colorado, University of Colorado SOM
Megan Abbott, MD – Children's Hospital Colorado, University of Colorado SOM; Katie Angione, MS, CGC – Children's Hospital Colorado, University of Colorado SOM; Scott Demarest, MD, MSCS – Children's Hospital Colorado, University of Colorado SOM; Tristen Dinkel, MSPC, BSN – Children's Hospital Colorado; Kristina Malik, MD – Children's Hospital Colorado, University of Colorado SOM; Kilby Mann, MD – Children's Hospital Colorado, University of Colorado SOM; Ann Reynolds, MD – Children's Hospital Colorado, University of Colorado SOM; Margarita Saenz, MD – Children's Hospital Colorado, University of Colorado SOM; Kourtney Santucci, MD – Children's Hospital Colorado, University of Colorado SOM; Megan Stringfellow, BS – Children's Hospital Colorado; Lacie Taylor, DO – Rocky Vista University; Lauren Treat, MD – Children's Hospital Colorado, University of Colorado SOM
Rationale: Detailed information about thinking, language, and motor skills is lacking in children with Developmental Epileptic Encephalopathies (DEEs) but could serve as important outcome measures for future intervention studies including clinical trials. Sparse available data may result from the erroneous idea that neuropsychological evaluation in these children is “impossible,” and that gold-standard measures are invalid for these populations. Here we offer evidence in contrast to these assertions.
Methods: Children completed neuropsychological evaluations as part of their participation in Children’s Hospital Colorado’s Neurogenetics Clinic. A flexible assessment approach was critical given that ability levels were not necessarily predictable from age. Test selection included both a parent-reported measure (the Vineland-3) and performance-based measures (Bayley-IV, Mullen Scales of Early Learning, or Wechsler Preschool and Primary Scale of Intelligence [WPPSI-IV]).
Results: We report language (expressive and receptive) and motor (fine and gross) age equivalents in 58 patients ages 1y to 27y2m: 14 with Chromosome 8p disorders (1y-27y2m), 3 with Ring 14 syndrome (5y-22y3m), 3
SLC6A1-RD
(2y7m-5y1m), and 10 with
STXBP1-RD
4y-17y1m).
Results reveal a high concordance between caregiver-report (i.e., the Vineland-3) with performance-based measures, especially when developmental levels are below a 24-month age equivalent. Similarity in ratings was stronger for motor compared to language ratings. Specifically, while for language ratings, there was 52% concordance within three months and a 78% concordance for six months, for motor ratings, there was a 64% concordance within three months and a 90% concordance within six months. Less consistency in the language ratings was most often due to discrepancies between the Vineland and the performance-based measure used for children whose developmental level is at or greater than two years, six months (the WPPSI-IV), likely due to the WPPSI measuring vocabulary as opposed to other means of demonstrating receptive comprehension, though interestingly, parents often rated their children below the age equivalent obtained by the WPPSI. There was a slightly higher proportion of outlier differences (i.e., >12-month difference) in language (17%) as opposed to motor ratings (6%). One limitation of this dataset is that some data was unable to be included due to a floor on age equivalents (i.e., < 3:0).