Characterizing Sunflower Syndrome: Results of an Ongoing Worldwide Online Questionnaire
Abstract number :
1.148
Submission category :
16. Epidemiology
Year :
2024
Submission ID :
1325
Source :
www.aesnet.org
Presentation date :
12/7/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Jo Sourbron, PhD – Ghent University Hospital
James Richard Barnett, MD – Montefiore Medical Center
Antonella Riva, MD, PhD – University of Genoa
Kennedy Geenen, BS, MSc – Massachusetts General Hospital
Elizabeth Thiele, MD, PhD – Massachusetts General Hospital
Lieven Lagae, MD, PhD, FRCP – Member of the European Reference Network EpiCARE, University of Leuven
Pasquale Striano, MD, PhD – University of Genova
Gerhard Josef Kluger, MD, PhD – Schoen Clinic Vogtareuth
Lorenz Kiwull, MD, PhD – Institute for Transition, Rehabilitation and Palliation, Paracelsus Medical University, Salzburg, Austria
Kirsten Eschermann, MD, PhD – Institute for Transition, Rehabilitation and Palliation, Paracelsus Medical University, Salzburg, Austria
Rationale:
Sunflower syndrome (SS) is a unique photosensitive epilepsy syndrome, characterized by stereotyped seizures associated with heliotropism and handwaving events (HWE). The literature about SS is scarce (Geenen KR, et al. Dev Med Child Neurol. 63(3) (2021)) and first-line treatment usually involves valproic acid (Baumer FM, et al. Epilepsy Research 142: 58–63 (2018)). A recent USA-based study assessed a 138-questionnaire-based survey via Research Electronic Data Capture (REDCap) in 68 SS individuals. Their results show varying efficacy of antiseizure medication (ASM) and the impact of HWE on quality of life (QoL) (Barnett JR, et al. Epilepsy & Behavior 117 (2021)). We performed a worldwide Patient-based phenotyping and evaluation of therapy for Rare Epilepsies (PATRE) survey on SS individuals to obtain further in-depth characterization of this epilepsy syndrome.
Methods:
Our survey includes 279 open- and closed-ended questions regarding demographics, personal and family history, ASM, nonpharmacological interventions, and QoL. Surveys are still being collected and managed using REDCap electronic data capture tools. Statistical analyses are being performed by R version 4.3.3.
Results:
The survey is currently completed by the parent/caregiver on 10/11 (91%). Of these 11 individuals, 10 (91%) are female and right-handed. The HWE was performed by the left hand on 6/11 (55%). HWE usually occurs in the sunlight for 7/10 (70%). The mean weekly HWE frequency is 161 (+-212 (SD)). During HWE, eye fluttering/eyelid myoclonia has been reported in 8/10 (80%). ASM included lamotrigine (LMT, n=4), levetiracetam (n=4), valproic acid (n=2), zonisamide (ZNS, n=2). The mean number of ASMs ever used was 2.8 (+-1.9 (SD)). A >50% HWE reduction was documented by 1/2 on ZNS (50%) and 2/4 on LMT (50%). ZNS and LMT also improved behavior in respectively 1 and 2 patients.
Nonpharmacological treatments included wearing a hat (efficacious in 7/7), wearing lenses/glasses (efficacious in 2/9), holding hands (efficacious in 4/5), trigger avoidance or focusing on tasks (efficacious in 3/5). Five out of 9 patients reported AD(H)D, anxiety, or learning disabilities. Developmental milestones were normal except in 1 patient with a pathogenic MEF2C variant. HWE negatively affected QoL (documented in 9 patients) in 55% of the SS subjects and 67% of the parents/caregivers.
Conclusions:
SS is a highly stereotyped epilepsy syndrome with a relatively high percentage of drug resistance and a significant impact on the QoL. Our data underline the relatively poor response to ASM and suggest LMT as an alternative ASM. Nonpharmacological actions were sometimes efficacious, especially wearing a hat. Additionally, we underscore the presence of comorbidities and negative impact on QoL in more than half of the individuals and their close relatives. Despite the small number of subjects, our ongoing study may contribute to a better understanding and management of SS.
Funding: None
Epidemiology