Authors :
Presenting Author: Soheil Mohammadi Yazdi, MD – Texas Children's Hospital
Lisa Emrick, MD – Texas Children's Hospital
Carlos Bacino, MD – Baylor College of Medicine
Sarah Risen, MD – Baylor College of Medicine
Jimmy Holder, MD PhD – Baylor College of Medicine
Andres Jimenez-Gomez, MD – Baylor College of Medicine
Rationale:
The transition from pediatric to adult care is a critical period for individuals with Developmental and Epileptic Encephalopathies (DEEs). The phenotype of individual DEEs evolves over time beyond seizure burden and is marked by other evolving clinical challenges for which current phenotypic information is limited. Angelman Syndrome (AS) and SYNGAP1-related DEE (SRD) present distinct clinical trajectories. We sought to characterize and compare longitudinal evolution of epilepsy, behavioral and sleep burden, and motor comorbidities in adolescents and young adults (AYAs) with SRD or AS during this critical period.Methods:
A single-institution retrospective chart review of patients aged ≥13 years with AS or SRD was conducted. Medical visits within 3-month segments were grouped as data points from which seizure/epilepsy care, neurodevelopmental/behavioral, sleep, gastrointestinal, and motor data were collected. Descriptive and inferential statistics were carried out to identify longitudinal patterns and compare subgroups.Results:
31 AS and 12 SRD individuals were identified, and a total of 253 timepoints were reviewed. Most patients had intractable epilepsy at initial timepoint (AS 61%) SRD 73%). persisting over time (refractory at follow-up AS: 52%; SRD: 91%). Seizure frequency remained stable in most AS individuals (86%); SRD demonstrated more variable course (45.5% stable, 54.5% worsening frequency). Worsening behaviors, as indicated by increased use of psychotropic medication or medication classes from first visit, was significant in both groups (AS: 35%, SRD: 50%). Alpha-2 adrenergic agonists were the most prescribed medication (28.7%) followed by antipsychotics (26.1%). GI issues tended to worsen over time: constipation increased from 58% to 72% of the total cohort. Sleep disturbances persisted over time with 97% of AS and 58% of SRD individuals reporting at followup. Motor function was largely stable over time. At baseline, 16.3% (n=7) of individuals were wheelchair-dependent, compared to 14% at final follow-up. Tremor and ataxia were reported in 41.9% (n=13) and 38.7% (n=12) of AS patients, respectively, with no significant changes over the study period. Conclusions:
AYAs with AS/SRD exhibit distinct clinical trajectories. Epilepsy stability may diverge from or overshadow rising behavioral and other healthcare needs. These findings underscore the need for tailored, diagnosis-specific transition planning to proactively address the evolving, complex needs of individual and aggregate DEE populations. Certain aspects may also remain underreported and may warrant closer correspondence with ongoing natural history and phenotyping studies.
Funding: none