By: Nazneen Khan
Introduction
Epilepsy is a neurological disorder that affects about 3.4 million people. Panayiotopoulos Syndrome (PS) is a type of benign epileptic disorder most commonly diagnosed among children. Distinct autonomic symptoms such as emesis along with localization in the occipital region of the brain during an EEG are found in PS patients. Although no known cause has been conclusively identified, most research points to a genetic predisposition. More research is warranted on PS on causes and treatments in order to appropriately address gaps in knowledge.
Panayiotopoulos Syndrome: A Close Examination of Idiopathic Epilepsy
According to Zack & Kobau (2017), about 3.4 million people live with epilepsy, 3 million adults and 470,000 children. Epilepsy is a neurological disorder that occurs when neurons transmit suddenly altered electrical signals in the brain, disrupting the normal neural pathway. When this happens, seizures can occur. Epilepsy is diagnosed when there is a recurrence of two unprovoked seizures within a 24-hour period (National Institute of Neurological Disorders and Stroke, 2023). Seizures can come in many forms and vary from person to person. There are numerous signs and symptoms that can alert an individual when a seizure is occurring: temporary confusion, a dazed stare, unusual movements of the extremities, and loss of consciousness (Mayoclinic, 2023). Generally, seizures are categorized into two classes based on the location of brain abnormalities: focal seizures and general seizures.
There are many types of epilepsy, one of them being Panayiotopoulos Syndrome (PS). Panayiotopoulos Syndrome presents itself as a benign childhood syndrome, with characteristics of autonomic symptoms and shifting and/or multi-focal spikes, often in the occipital region of the brain during an electroencephalogram (Ferrie et al, 2007b). The incidence of PS has been reported to be about 0.8 per 100,000 children younger than 16 years of age (Weir et al., 2018). Since PS is a fairly new childhood epileptic disorder, it therefore warrants serious attention from clinicians, general practitioners, health professionals, public health workers, parents, and to appropriately address and treat it. A brief, but thorough review will be done to provide important concepts and fundamental knowledge about this epileptic disorder.
Clinical Features and Prognosis
PS is a benign epileptic disorder affecting children which usually does not progress into significant neurodevelopmental problems. About three-quarters of children will have their first seizure between the ages of three and six. It affects both males and females equally (Ferrie et al., 2007b). There are some key defining features of PS that make it distinguishable from other disorders. First, is the presence of autonomic seizures and autonomic status epilepticus (Ferrie et al., 2007a). Autonomic seizures cause an objective change in autonomic function (O’Donovan et al., 2000). Autonomic status epilepticus is seizure activity that lasts for at least 30 minutes usually causing altered functioning of the autonomic nervous system either in the presence or non-presence of seizure onset (Ferrie et al., 2007a). Panayiotopoulos et al. (2002) found that emetic symptoms accounted for about 72% of all autonomic manifestations in 47 patients which can include nausea, vomiting, and retching. Other symptoms which may occur simultaneously include pallor, flushing, cyanosis, and coughing. Almost 70% of seizures can occur during sleep as opposed to nearly 17% when awake or about 13% when the person is awakening. Moreover, most seizures can last for up to 30 minutes, with some even going up to 60 minutes (Specchio et al., 2010). Localization of occipital spikes in encephalograms of children’s brains with PS can be found although there have been normal readings too (Durá-Travé et al., 2008).
Causes and Risk Factors
Many studies have tried to understand the causes of PS since its discovery though not much has been conclusive. Most of the research points to a genetic predisposition to idiopathic syndrome. In a research conducted by Livingston et al. (2009), it was suspected that one family who had PS had a mutation in the SCN1A gene. The family member was reported to have a severe case of PS and a strong association of fever as a precipitating factor (febrile precipitant). However, other cases show that no SCN1A mutation was found in two sisters who had typical features of PS. They were also reported to have infrequent autonomic seizures and no febrile precipitants (Panayiotopoulos, 2010).
Future of PS
Awareness of PS requires the attention of multiple individuals. Due to the lack of research, Panayiotopoulos Syndrome warrants more attention to effectively diagnose, treat, and manage it among children. To better understand and reduce misdiagnosis and underappreciation of PS, primary doctors, psychiatrists, and clinical personnel need to undergo more training to figure out the distinct signs and symptoms of this disorder. Subsequently, it is required that patients feel more comfortable expressing their disorders and medical problems to assist health professionals to appropriate better treatments and interventions. Therefore, without further medical research and awareness, PS will continue to pose a potential health risk in the medical health community.
Conclusion
Panayiotopoulos Syndrome (PS) is an idiopathic epilepsy syndrome affecting about three-quarters of children under 16 years of age. PS presents with autonomic seizures, often during sleep, with symptoms such as nausea, vomiting, and pallor. These distinctive autonomic features, alongside shifting brain activity on EEGs, help distinguish PS from other epilepsies. While the exact cause remains a mystery, genetics are a determining factor. Raising awareness and improving the diagnosis of PS remains a crucial part of the biomedical community to ensure proper management and treatment for affected children and others alike.
References
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