Understanding Sunflower syndrome: Results of an online questionnaire

Barnett, James R.; Fleming, Bradley M.; Doshi, Samarth P.; Freedman, Jason H.; Ambrosio, Nicholas R.; Geenen, Kennedy R.; Bruno, Patricia; Thiele, Elizabeth A.

doi:10.1016/j.yebeh.2021.107856

Cited by 3 publications

(4 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Even though these HWE can resemble behavioral or tic disorders, several reports underline that they are part of the ictal semiology 4,10–13 that further underlines the need for antiseizure management. VPA, LEV, lamotrigine, 4,15 and fenfluramine 16,17 seem to be efficacious in treating Sunflower syndrome patients, though non‐pharmacological therapies (avoiding stimuli, lenses, glasses, hat) can lead to significant seizure reductions or seizure freedom in some patients 15 . Accordingly, our patient was initially misdiagnosed with a tic disorder, which impeded proper antiseizure management.…”

Section: Discussionmentioning

confidence: 89%

“…VPA, LEV, lamotrigine, 4,15 and fenfluramine 16,17 seem to be efficacious in treating Sunflower syndrome patients, though non-pharmacological therapies (avoiding stimuli, lenses, glasses, hat) can lead to significant seizure reductions or seizure freedom in some patients. 15 Accordingly, our patient was initially misdiagnosed with a tic disorder, which impeded proper antiseizure management. After the confirmation of Sunflower syndrome, treatment with VPA decreased the number of HWE and absences in our patients.…”

Section: Discussionmentioning

confidence: 97%

“…The prevalence and etiology of Sunflower syndrome are currently unknown and females seem to be affected more frequently than males. In addition, a family history of seizures, generalized epilepsy, or Sunflower syndrome has been reported in ~60% of the affected patients strongly suggesting an important genetic component in the etiology of the condition 15 . Although genetic diagnostic testing including exome‐based gene panels for epilepsy and molecular karyotyping has been performed in single index cases worldwide, no causal pathogenic gene variants have been reported so far.…”

Section: Introductionmentioning

confidence: 99%

“…In addition, a family history of seizures, generalized epilepsy, or Sunflower syndrome has been reported in ~60% of the affected patients strongly suggesting an important genetic component in the etiology of the condition. 15 Although genetic diagnostic testing including exome-based gene panels for epilepsy and molecular karyotyping has been performed in single index cases worldwide, no causal pathogenic gene variants have been reported so far. Unraveling the genetic etiology of Sunflower syndrome can lead to a more accurate prognosis and recurrence risk estimation for future pregnancies.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

A novel GABRG2 variant in Sunflower syndrome: A case report and video EEG monitoring

Sourbron,

Proost,

Jansen

et al. 2023

Epileptic Disorders

View full text Add to dashboard Cite

ObjectiveSunflower syndrome is a unique photosensitive epilepsy, characterized by heliotropism and stereotyped seizures associated with handwaving. These handwaving events (HWE) are thought to be an ictal phenomenon, although current data are contrasting. Photosensitive epilepsy occurs in 2‐5% of the epilepsy forms and several pathogenic gene variants have been associated with photosensitive epilepsy. However, the genetic etiology of Sunflower syndrome remains unknown. Antiseizure medications (ASM) efficacious in treating photosensitive epilepsy are valproic acid (VPA) and levetiracetam (LEV) although some forms, such as Sunflower syndrome, can be drug‐resistant.ResultsHere, we report an 8‐year‐old boy with an early onset of episodes of HWE that was initially categorized as behavioral problems for which risperidone was started. However, the medical history was suggestive of Sunflower syndrome and subsequent video EEG showed focal mostly temporal and fronto‐temporal (right and left) epileptiform activity and confirmed the epileptic nature of the HWE. Thus, VPA was started and initially led to seizure frequency reduction. Molecular analyses showed a pathogenic variant in GABRG2 (c.1287G>A p.(Trp429Ter)), which has been associated with photosensitive and generalized epilepsy.SignificanceOverall, clinicians worldwide should be cautious by interpreting HWE and/or other tic‐like movements, since an epileptic origin cannot be ruled out. A prompt and correct diagnosis can be made by performing a video EEG early on in the diagnostic process when epileptic seizures are part of the differential diagnosis. Even though the genetic etiology of Sunflower syndrome remains poorly understood, this constellation supports further genetic testing since the detection of a pathogenic variant can help in making correct decisions regarding ASM management.

show abstract

Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

A novel GABRG2 variant in Sunflower syndrome: A case report and video EEG monitoring

Sourbron,

Proost,

Jansen

et al. 2023

Epileptic Disorders

View full text Add to dashboard Cite

show abstract

Seizure quantification in sunflower syndrome by a wrist‐worn device

Sourbron,

Proost,

Vandenneucker

et al. 2024

Epileptic Disorders

View full text Add to dashboard Cite

ObjectiveSunflower syndrome is a rare photosensitive childhood‐onset epilepsy, featuring repetitive handwaving events (HWE) triggered by light. Objective documentation of these HWE can be difficult due to the numerous events occurring daily and/or caregivers who document the seizures but are not always present. Hence, seizure diaries can be underreporting.MethodsWe performed a feasibility study in three Belgian Sunflower syndrome individuals to assess the possibility to quantify the HWE by a wrist‐worn wearable device (Axivity AX6). We conducted a structured exercise aiming to capture patterns of possible confounders in a controlled environment. Subsequently, patients wore the device for three to six consecutive days and nights at home. Spectral power analyses were performed to characterize the frequency signature of the different movements.ResultsThe HWE of patient A and B showed homogeneity and narrow‐band frequencies. Patient C did not experience any HWE at the start of the study due to proper seizure control. Regarding HWE, there was a higher spectral power for Gyroscope Z (Gz) compared to Gy. The inter‐subject variability for HWE frequency peaks was in the 3–6 Hz range. Computer analysis by visual annotation, without checking the seizure diary, detected 71% of the HWE if the HWE lasted for longer than 5 s (sensitivity 64%). For shorter HWE duration, the detection rate was 50% but seemed to be higher if there was a concordant change of eye movement (63%) (sensitivity 36%). The most obvious confounder was toothbrushing (TB). However, TB showed a different pattern: that is, higher or comparable spectral power for Gy compared to Gz. There was also a higher or comparable spectral power for Gy compared to Gz for “waving hello”.SignificanceWe show that the wearable movement sensor Axivity AX6 can detect HWE in Sunflower syndrome individuals and distinguish them from confounders in a real‐world setting.

show abstract