developmental and epileptic encephalopathy 95

Developmental and Epileptic Encephalopathy (DEE)

Developmental and epileptic encephalopathy (DEE) is a group of rare and severe epilepsies that feature both seizures and developmental consequences. This condition commonly begins in infancy or childhood and is associated with frequent seizures, intellectual disability, and significant developmental delay, regression, or plateau.

Characteristics of DEE

• Frequent seizures of multiple different types
• Intellectual disability and significant developmental delay, regression, or plateau
• Seizures can be tonic, atonic, or absence seizures
• EEG is very abnormal, showing frequent epileptiform activity

Causes of DEE

• Genetic variants are frequently responsible for DEEs
• Some cases may be caused by other underlying conditions, such as infections or injuries to the brain

Impact on Development

• Cognitive functions are influenced by both seizure and interictal epileptiform activity
• Neurocognition is affected, leading to developmental slowing or regression

Treatment Considerations

• Treatment decisions should consider the interaction between epilepsy and developmental encephalopathies
• Best studied 'developmental and epileptic encephalopathy' gene variants are considered for illustrative support for 'developmental and epileptic encephalopathy'

References:

[1] Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies. DEEs commonly begin in infancy or childhood and are associated with frequent seizures of multiple different types, intellectual disability and significant developmental delay, regression or plateau. [8] [2] The term “developmental and epileptic encephalopathy” (DEE) refers to when cognitive functions are influenced by both seizure and interictal epileptiform activity and the neurobiological process behind the epilepsy. Many DEEs are related to gene variants and the onset is typically during early childhood. [13] [3] Genetic variants are frequently responsible for epileptic encephalopathies, conditions in which an increased susceptibility to epileptic seizures is associated with cognitive deterioration. In the diverse examples in this article, both the epilepsy and the developmental encephalopathy appear to be symptoms of the known genetic variant. [12] [4] Developmental and Epileptic Encephalopathy (DEE) refers to a group of severe epilepsies that are characterized both by seizures, which are often drug-resistant, as well as encephalopathy, which is a term used to describe significant developmental delay or even loss of developmental skills. [10] [5] Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies. DEEs commonly begin in infancy or childhood and are associated with frequent seizures of multiple different types, intellectual disability and significant developmental delay, regression or plateau. [8] [6] The EEG is very abnormal (see image ...). Examination is severely abnormal with low tone and posture, abnormal movements, and poor visual interest. [5] [7] Developmental and Epileptic Encephalopathy (DEE) refers to a group of severe epilepsies that are characterized both by seizures, which are often drug-resistant, as well as encephalopathy, which is a term used to describe significant developmental delay or even loss of developmental skills. [10] [8] Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies. DEEs commonly begin in infancy or childhood and are associated with frequent seizures of multiple different types, intellectual disability and significant developmental delay, regression or plateau. [1] [9] The term “developmental and epileptic encephalopathy” (DEE) refers to when cognitive functions are influenced by both seizure and interictal epileptiform activity and the neurobiological process behind the epilepsy. Many DEEs are related to gene variants and the onset is typically during early childhood. [13] [10] Developmental and Epileptic Encephalopathy (DEE) refers to a group of severe epilepsies that are characterized both by seizures, which are often drug-resistant, as well as encephalopathy, which is a term used to describe significant developmental delay or even loss of developmental skills. [4] [11] Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies. DEEs commonly begin in infancy or childhood and are associated with frequent seizures of multiple different types, intellectual disability and significant developmental delay, regression or plateau. [8] [12] Genetic variants are frequently responsible for epileptic encephalopathies, conditions in which an increased susceptibility to epileptic seizures is associated with cognitive deterioration. In the diverse examples in this article, both the epilepsy and the developmental encephalopathy appear to be symptoms of the known genetic variant. [12] [13] The term “developmental and epileptic encephalopathy” (DEE) refers to when cognitive functions are influenced by both seizure and interictal epileptiform activity and the neurobiological process behind the epilepsy. Many DEEs are related to gene variants and the onset is typically during early childhood. [13] [14] This update considers the best studied 'developmental and epileptic encephalopathy' gene variants for illustrative support for 'developmental and epileptic encephalopathy' over epileptic encephalopathy. Moreover, the interaction between epilepsy and developmental encephalopathies is considered with respect to influence on treatment decisions. [14] [15] Steroid-sensitive epileptic encephalopathies such as Hashimoto encephalopathy, progressive myoclonus epilepsies, and neonatal epileptic encephalopathies are not classified in this group but are worth mentioning [5–10].

Common Signs and Symptoms of Developmental and Epileptic Encephalopathy (DEE)

Developmental and epileptic encephalopathy (DEE) is a complex condition characterized by a combination of developmental delays, intellectual disability, and frequent seizures. The following are some common signs and symptoms associated with DEE:

• Frequent Seizures: DEE is marked by recurrent seizures of various types, including atonic, tonic, or myoclonic seizures [6].
• Developmental Delays: Children with DEE often experience significant delays in reaching developmental milestones, such as sitting, standing, and walking [3].
• Intellectual Disability: DEE is associated with intellectual disability that can range from mild to severe [7].
• Sleep Disturbances: Many individuals with DEE experience sleep disturbances, including insomnia or excessive daytime sleepiness [6].
• Behavioral Difficulties: Behavioral challenges, such as hyperactivity, aggression, and mood swings, are common in children with DEE [6].
• Cerebral Atrophy: Some individuals with DEE may exhibit cerebral atrophy, which can lead to progressive neurological deficits [9].
• Absent Speech: In some cases, individuals with DEE may experience absent or delayed speech development [5].

It's essential to note that each individual with DEE may present with a unique combination of these signs and symptoms. A comprehensive evaluation by a healthcare professional is necessary for an accurate diagnosis and treatment plan.

References: [3] Aug 2, 2022 - How Is EIDEE diagnosed? [5] Clinical features [6] Jun 19, 2023 — Symptoms [7] ... epileptic medications. [9] by N Specchio · 2021 · Cited by 139 — Even later developments include progressive neurological deficits...

Diagnostic Tests for Developmental and Epileptic Encephalopathy (DEE)

The diagnosis of Developmental and Epileptic Encephalopathy (DEE) involves a combination of clinical evaluation, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic testing.

• Electroencephalogram (EEG): An EEG is a crucial diagnostic tool for DEE. It should include both sleep and wake states to accurately diagnose the condition [2]. A video EEG may also be used to monitor seizures.
• Magnetic Resonance Imaging (MRI): MRI can help identify structural abnormalities in the brain that may contribute to DEE. However, it is essential to note that MRI findings may not always correlate with the severity of the condition [3].
• Genetic Testing: Genetic testing via blood, saliva samples, or a skin biopsy can help identify genetic mutations associated with DEE. Next-generation sequencing using gene panels, exomes, and genomes has improved diagnostic rates [6][7]. This testing can also aid in prenatal diagnosis [9].

Other diagnostic tests that may be considered include:

• Sleep and wake EEG: To monitor seizures and assess brain activity.
• Video EEG: To monitor seizures and assess brain activity.
• Genetic testing: To identify genetic mutations associated with DEE.

It is essential to note that the diagnosis of DEE can be complex, and a comprehensive evaluation by a multidisciplinary team of healthcare professionals is often necessary.

Treatment Options for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathies (DEEs) are a group of rare and severe epilepsies that can be challenging to manage. While there is no cure for DEEs, various treatment options are available to help control seizures and improve quality of life.

Antiseizure Medications

The most commonly used antiseizure medications in the treatment of DEEs include:

• Clobazam [1]
• Other medications such as valproate, levetiracetam, and topiramate may also be prescribed depending on the individual case [2]

Treatment Goals

The primary goal of treatment for DEEs is to control seizures and prevent further developmental delays. Treatment plans are often tailored to each patient's specific needs and may involve a combination of medications, lifestyle modifications, and other interventions.

Challenges in Treatment

Despite advances in medical treatment, patients with DEEs often experience poor response to medication and ongoing developmental delays [7]. In some cases, seizures can be difficult to control, and alternative treatments such as surgery or vagus nerve stimulation may be considered.

Current Research and Future Directions

Research into the causes and treatment of DEEs is ongoing. Studies have shown that early intervention and a multidisciplinary approach to care can improve outcomes for patients with DEEs [6]. Further research is needed to develop more effective treatments and improve our understanding of these complex conditions.

References:

[1] May 23, 2022 — The most appropriate anti-epileptic treatment is selected based on the type of epilepsy syndrome. Antiseizure medications includes clobazam, ...

[2] by CJ Landmark · 2021 · Cited by 41 — Developmental and epileptic encephalopathies (DEEs) are among the most challenging of all epilepsies to manage, given the exceedingly ...

[6] by ACH Ng · 2024 — Abstract. Patients with epileptic encephalopathy with spike wave activation in sleep (EE-SWAS) often display drug-resistant epilepsy. The activation of ...

[7] Jul 26, 2022 — Early Infantile Epileptic Encephalopathy (Ohtahara Syndrome) ... Seizures are difficult to treat. Response to treatment is often poor. In addition ...

Note: The numbers in square brackets refer to the corresponding search results provided in the context.

Differential Diagnosis of Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathy (DEE) is a complex neurological disorder characterized by severe developmental delays or intellectual disability, accompanied by epilepsy. The differential diagnosis of DEE involves identifying other conditions that may present with similar symptoms.

Conditions to Consider:

• Early Myoclonic Encephalopathy: This condition is characterized by early onset myoclonic seizures and severe developmental delay.
• West Syndrome: Also known as infantile spasms, this condition presents with a characteristic EEG pattern and severe developmental delay.
• Other Epileptic Encephalopathies: These include conditions such as Lennox-Gastaut syndrome and Landau-Kleffner syndrome.

Diagnostic Stages:

The diagnosis of DEE occurs in three stages:

1. Identification of Seizures: The first stage involves identifying the presence of seizures, which is often the primary presenting symptom.
2. EEG Evaluation: The second stage involves evaluating the EEG to determine if there are any characteristic patterns or abnormalities.
3. Clinical Evaluation: The third stage involves a comprehensive clinical evaluation to assess developmental delay and other symptoms.

References:

• [6] Diagnosing an infant with EIDEE syndrome is based on signs and symptoms, as well as EEG results.
• [8] Diagnosis of epileptic encephalopathies occurs in three stages that work together to inform treatment planning.
• [9] An underlying etiology drives developmental outcomes directly (developmental encephalopathy) and also results in epilepsy.

Note: The numbers in square brackets refer to the search result numbers provided in the context.