Authors :
Presenting Author: Mary Wojnaroski, PhD – Nationwide Children's Hospital
Natasha Ludwig, PhD – Kennedy Krieger Institute
Jenny Downs, PhD – Telethon Kids Institute
Kelly Muzyczka, PhD – Decoding Developmental Epilepsies
Rebecca Hommer, EdD – 5. Connections Beyond Sight and Sound Maryland & DC DeafBlind Project, University of Maryland,
Gabi Conecker, MA – Decoding Developmental Epilepsies
Jayetta Hecker, MA – Decoding Developmental Epilepsies
Anne Berg, PhD – Decoding Developmental Epilepsies
Rationale:
Individuals with Developmental and Epileptic Encephalopathy (DEE) often exhibit early life epilepsy and profound cognitive and functional impairments, with genetic etiologies increasingly identified. Many neurodevelopmental and neuropsychological assessment tools do not adequately assess developmental and functional skills that are important in this population and have limited ability to detect meaningful change over time, which is critical for clinical care and clinical trials. The Developmental Profile-Fourth edition (DP-4) Parent/Caregiver Checklist measures development from birth to 21 years; however, performance of this measure has not been examined in individuals with profound impairment associated with DEE. We evaluated the performance of the DP-4, including distribution of scores; floor effects; and known groups validity, in a profoundly impacted sample.
Methods:
Two hundred and seventeen caregivers completed the DP-4 as part of Parents Speak, an online survey of child functioning and caregiver priorities in individuals with DEEs and profound impairment. The DP-4 measures five domains of development and functioning: Physical, Adaptive, Social-Emotional, Cognitive, and Communication. Caregivers also provided information about four cardinal areas of functioning: communication, hand use, ambulatory status, and eating. A Severity Index was created by summing the number of functions with profound impairment (0-4).
Results:
The average age of participants was 10 years (SD=8.11, range:1-50) and 46% were male. Ninety-seven percent had an identified genetic cause of DEE and 92% had a caregiver-reported or suspected diagnosis of Intellectual Developmental Disorder (IDD) or Global Developmental Delay (GDD). Caregivers endorsed profound impairments in mobility (55%), communication (79%), eating (36%), and hand use (37%). The average SI was 2.08 (SD=1.38; 0=13%, 1=28%, 2=20%, 3=16%, 4=23%). DP4 scores indicated profoundly impaired functioning (median age equivalencies: 10-14 months). Floor effects were minimal across all subscales (2.8%-7.8%). There were weak positive correlations between age and all DP-4 subscales (older participants had higher scores) and moderate to strong negative correlations with the SI (individuals with lower DP4 scores had higher SI).
Conclusions:
raw scores for older individuals and lower raw scores for individuals with more profoundly impaired domains. Weak correlations between DP4 raw scores and age may represent the profound impairment in all individuals in the sample. This may reflect the slowed rate of skill acquisition in this population or limited ability to measure small developmental gains, although this was a cross-sectional sample. Although the median raw score was low for all scales, the majority of items were endorsed by at least one caregiver, indicating a large percentage of the items are being used, even in a severely impacted sample. Relatively minimal floor effects were obtained. The DP4 may be an informative tool in this population; further analysis is needed to evaluate its ability to measure meaningful change.
Funding:
The Inchstone Project, Decoding Developmental Epilepsies