Thursday, January 7, 2021

Sunflower syndrome

 Sunflower Syndrome

Sunflower syndrome is a rare epileptic disorder characterized by highly stereotyped seizures.

What Is Sunflower Syndrome?

Sunflower syndrome is a rare, epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness. 

What causes Sunflower syndrome?

As of today, it is not known what causes Sunflower syndrome. However, the disorder is highly stereotyped and typically begins during the first decade of life. This suggests that there may be a genetic component. Currently, we are conducting research to identify and understand the underlying genetics involved with the disorder. 

What are the symptoms of Sunflower syndrome?

Symptoms of Sunflower syndrome include an initial attraction to bright light, followed by seizure activity that includes episodes of hand waving and disruptions of consciousness. As stated above, these episodes typically start before the age of ten. The attraction to light often precedes the onset of handwaving episodes by days to months. 

Patients with Sunflower syndrome can also experience other types of seizures. These include absence seizures and generalized tonic-clonic seizures. For some, tonic-clonic seizures occur after prolonged exposure to bright light and prolonged hand waving episodes. 

How is Sunflower syndrome diagnosed?

There is currently no clinical or laboratory standard for diagnosing Sunflower syndrome. However, individuals with Sunflower syndrome have abnormal electroencephalograms (EEGs) with features consistent with generalized epilepsy. For this reason, your doctor may obtain an EEG. 

How Is Sunflower Syndrome Treated?

There have not been any clinical trials to investigate the effectiveness of treatments for Sunflower syndrome. For this reason, it is unknown if any anticonvulsant medications or treatments are particularly effective.

Some individuals with Sunflower syndrome and their parents report that providing shade from bright light (via a baseball cap, tinted sunglasses or welder’s glasses) can help reduce the frequency of hand waving episodes. Other individuals report that focusing on specific tasks while in the presence of bright lights can reduce the frequency of hand waving. 

What Other Issues Do Patients Face?

The impacts of Sunflower syndrome have not been fully explored. Because individuals with Sunflower syndrome experience brief disruptions in consciousness, hand waving episodes can impact one’s ability to attend and learn. Furthermore, these disruptions in consciousness may pose a safety risk depending on the child’s activity at the time of the hand waving episode. Children who experience tonic-clonic seizures are at additional risk of injury at the time of those seizures. 

Some patients also report experiencing anxiety, which may in part be caused by the inability to prevent or control hand waving episodes. Children with Sunflower syndrome may also experience added stress from clinicians, family members and friends who believe that the hand waving episodes are self-induced and under conscious control. Children often report that they are told to “just stop” causing themselves to have seizures.

Stigma surrounding Sunflower syndrome

Sunflower syndrome was originally described as a self-induced photosensitive epilepsy. However, the “self-induced” designation may be inaccurate.

It was initially believed that individuals with Sunflower syndrome were consciously inducing seizures for attention or pleasure. This belief created a stigma around the disorder. As a result, people have adopted the belief that individuals with Sunflower syndrome can control their hand waving episodes.

Although some case studies provide anecdotal evidence to support this, the findings in scientific literature are not consistent. In fact, EEG studies have found that the misfiring of neurons in the brain or epileptiform activity start at the same time as the hand waving behavior. This suggests that the hand waving may in fact be part of the seizure, not the cause.

How Can I Help?

The Pediatric Epilepsy Program at the Massachusetts General Hospital is currently working to identify funding sources for current and future projects designed to understand and improve clinical care for children with Sunflower syndrome and are in the process of establishing a dedicated multidisciplinary Sunflower syndrome clinical program. If you are interested in donating, please visit our Sunflower syndrome fundraiser page or email bfleming2@mgh.harvard.edu.

Current Projects

Under the direction of Elizabeth Thiele, MD, PhD, the Pediatric Epilepsy Program at MGH has initiated several projects to develop a better understanding of Sunflower syndrome. 

Gene Identification: Because of the highly stereotyped characteristics of Sunflower syndrome, it is possible that there is a genetic component to the disorder. Efforts are currently underway to identify the specific gene/s that may be involved in Sunflower syndrome.

Clinical and EEG characterization: Sunflower syndrome is not well understood. The Pediatric Epilepsy Program at MGH is currently working to characterize the clinical features and EEG patterns of children with Sunflower Syndrome.

Scientific Literature:  Geenen KR, Patel S, Thiele EA. Sunflower syndrome: a poorly understood photosensitive epilepsy. Dev Med Child Neurol. 2020 Oct 31. doi: 10.1111/dmcn.14723. Epub ahead of print. PMID: 33135153.ture

Aicardi, J., & Gastaut, H. (1985). Treatment of self-induced photosensitive epilepsy with fenfluramine. The New England journal of medicine, 313(22), 1419-1419.

Ames, F. R. (1971). “Self-induction” in photosensitive epilepsy. Brain, 94(4), 781-798.

Ames, F. R., & Saffer, D. (1983). The sunflower syndrome: a new look at “self-induced” photosensitive epilepsy. Journal of the neurological sciences, 59(1), 1-11

Belcastro, V., & Striano, P. (2014). Self?induction seizures in sunflower epilepsy: a video?EEG report. Epileptic Disorders, 16(1), 93-95.

Livingston, S., & Torres, I. C. (1964). Photic epilepsy: report of an unusual case and review of the literature. Clinical pediatrics, 3(5), 304-307.

Singhi, P. D., & Bansal, D. (2004). Self induced photosensitive epilepsy. Indian journal of pediatrics, 71(7), 649-651.

https://www.massgeneral.org/children/sunflower-syndrome

_____________________________________________________________________________

Geenen KR, Patel S, Thiele EA. Sunflower syndrome: a poorly understood photosensitive epilepsy. Dev Med Child Neurol. 2020 Oct 31. doi: 10.1111/dmcn.14723. Epub ahead of print. PMID: 33135153.

Abstract

Sunflower syndrome is a rare photosensitive epilepsy which has received little attention in recent medical literature. The historical cases documenting the epilepsy's stereotyped handwaving motion in front of light characterized the behavior as self-inducing seizures via mimic of stroboscopic effect. However, the relationship between handwaving episodes and attendant generalized electroencephalogram abnormalities, and an appreciation of the compulsive attraction the sun and other light sources hold for these patients, suggest the handwaving motion may be a part of the seizure rather than a mechanism of self-induction. The lack of awareness of Sunflower syndrome often leads to misdiagnosis. The seizures are often refractory to traditional anticonvulsant medication, and patients resort to behavioral intervention, such as hats and sunglasses, to reduce handwaving episodes. Further study is required to determine the syndrome's natural history and to identify more effective treatment options.

Barnett JR, Fleming BM, Geenen KR, Sourbron J, Freedman JH, Bruno PL, Thiele EA. Characterizing Sunflower syndrome: a clinical series. Epileptic Disord. 2020 Jun 1;22(3):273-280. doi: 10.1684/epd.2020.1161. PMID: 32554362.

Abstract

To characterize the clinical phenotype of Sunflower syndrome. Sunflower syndrome is a rare photosensitive epilepsy syndrome characterized by highly stereotyped seizures, photosensitivity, and heliotropism. We retrospectively reviewed the medical records of patients seen in the Massachusetts General Hospital for Children (MGHfC) pediatric epilepsy program with a history of Sunflower syndrome. Twenty-four patients were identified; 18 were female. At the time of initial MGHfC evaluation, patients' ages ranged from 6.4 to 25 years, with a median age of 11.5 years. All patients presented with hand-waving episodes (HWEs), although one patient no longer demonstrates this, but now has eye blinking episodes on exposure to light. Four have associated eye fluttering as a component of their most prevalent light-induced seizures. The average age at onset of HWEs was six years. Seventeen developed other symptoms prior to the onset of HWEs. The most prevalent symptom was an attraction to light and possible absence seizures. Light-induced seizures were generally refractory to broad-spectrum antiepileptic drugs (AEDs). Only three patients had a reduction of HWEs with the use of AEDs. Several non-pharmacological strategies reduced seizure frequency, however, efficacy varied. These non-pharmacological strategies included avoiding stimulus, focusing on other tasks, and occupying or restraining the hand that was involved in hand-waving. The use of tinted glasses reduced seizure frequency in 17 patients, however, no patient achieved seizure freedom. Twenty-two patients had available EEGs, 20 of which showed interictal epileptiform discharges. Additionally, many of the patients experienced a negative impact on their self-concept due to anxiety, depression, or negative interactions with peers. Sunflower syndrome is a generalized, pharmacoresistant epilepsy with childhood onset and remains poorly understood. To improve clinical care and scientific understanding, long-term prospective research exploring the natural history, etiology, and effective treatments for Sunflower syndrome should be conducted. [Published with video sequence].

Baumer FM, Porter BE. Clinical and electrographic features of sunflower syndrome. Epilepsy Res. 2018 May;142:58-63. doi: 10.1016/j.eplepsyres.2018.03.002. Epub 2018 Mar 3. PMID: 29555355; PMCID: PMC6051521.

Abstract

Background: Sunflower Syndrome describes reflex seizures - typically eyelid myoclonia with or without absence seizures - triggered when patients wave their hands in front of the sun. While valproate has been recognized as the best treatment for photosensitive epilepsy, many clinicians now initially treat with newer medications; the efficacy of these medications in Sunflower Syndrome has not been investigated. We reviewed all cases of Sunflower Syndrome seen at our institution over 15 years to describe the clinical course, electroencephalogram (EEG), and treatment response in these patients. 

Methods: Search of the electronic medical record and EEG database, as well as survey of epilepsy providers at our institution, yielded 13 cases of Sunflower Syndrome between 2002 and 2017. We reviewed the records and EEG tracings. 

Results: Patients were mostly young females, with an average age of onset of 5.5 years. Seven had intellectual, attentional or academic problems. Self-induced seizures were predominantly eyelid myoclonia ± absences and 6 subjects also had spontaneous seizures. EEG demonstrated a normal background with 3-4 Hz spike waves ± polyspike waves as well as a photoparoxysmal response. Based on both clinical and EEG response, valproate was the most effective treatment for reducing or eliminating seizures and improving the EEG; 9 patients tried valproate and 66% had significant improvement or resolution of seizures. None of the nine patients on levetiracetam or seven patients on lamotrigine monotherapy achieved seizure control, though three patients had improvement with polypharmacy. 

Conclusions: Valproate monotherapy continues to be the most effective treatment for Sunflower Syndrome and should be considered early. For patients who cannot tolerate valproate, higher doses of lamotrigine or polypharmacy should be considered. Levetiracetam monotherapy, even at high doses, is unlikely to be effective.

No comments:

Post a Comment