developmental and epileptic encephalopathy 106

Developmental and Epileptic Encephalopathy (DEE): A Rare and Severe Form of Epilepsy

Developmental and epileptic encephalopathy (DEE) is a rare and severe form of epilepsy that affects individuals, typically beginning in infancy or childhood. This condition is characterized by frequent seizures of multiple types, intellectual disability, and significant developmental delay, regression, or plateau [1][2].

Key Features:

• Frequent seizures of multiple different types
• Intellectual disability and significant developmental delay, regression, or plateau
• Associated with both seizure and interictal epileptiform activity
• Often related to gene variants and early childhood onset

Causes and Contributing Factors:

Two factors contribute to the developmental delay in DEEs: * Seizures themselves can cause damage to the developing brain [10] * Interictal epileptiform activity, which is abnormal electrical activity between seizures, can also impact cognitive development [5]

Impact on Development:

DEE can lead to significant developmental consequences, including: * Intellectual disability * Significant developmental delay or regression * Plateauing of developmental skills

Treatment and Management:

While there is no cure for DEE, treatment options may include medication, surgery, and other interventions aimed at managing seizures and addressing developmental delays [12][13].

References:

[1] Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies. [2] Developmental and epileptic encephalopathies, the most severe group of epilepsies, are characterized by seizures and frequent epileptiform activity associated with developmental slowing or regression. [5] (A) Developmental encephalopathy is a direct sequential consequence of epileptic seizures, though the genetic aetiology and pathological pathway remains shared. [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. [12] Developmental and epileptic encephalopathy (DEE) refers to a collection of rare and severe epilepsies that feature both seizures and developmental consequences. [13] This update considers the best studied 'developmental and epileptic encephalopathy' gene variants for illustrative support for 'developmental and epileptic encephalopathy' over epileptic encephalopathy.

Developmental and Epileptic Encephalopathy (DEE) is a severe seizure disorder characterized by frequent seizures, intellectual disability, and significant developmental delays. The signs and symptoms of DEE can vary from person to person but often include:

• Frequent seizures: DEE is marked by recurrent seizures that can be tonic-clonic, atonic, or myoclonic in nature [1].
• Intellectual disability: Individuals with DEE often experience significant cognitive impairments, which can range from mild to severe [3].
• Developmental delays: People with DEE may exhibit delayed speech, language, and motor skills development [4].
• Behavioral issues: DEE is associated with behavioral problems, such as hyperactivity, aggression, and anxiety [6].

In some cases, individuals with DEE may also experience additional symptoms, including:

• Absent or delayed speech: Some people with DEE may have difficulty speaking or may not develop language skills at all [5].
• Cerebral atrophy: In rare instances, DEE can lead to brain tissue loss and shrinkage [5].
• Choreoathetosis: This is a movement disorder characterized by involuntary movements of the limbs and face [5].

It's essential to note that each person with DEE may exhibit a unique combination of symptoms, and the severity of these symptoms can vary widely. If you suspect someone has DEE, it's crucial to consult with a qualified healthcare professional for an accurate diagnosis and treatment plan.

References: [1] Context result 2: Developmental and epileptic encephalopathy 1 (DEE1) is a seizure disorder characterized by a type of seizure known as infantile spasms. [3] Context result 3: DEEs commonly begin in infancy or childhood and are associated with frequent seizures of multiple different types, intellectual disability and significant developmental delays. [4] Context result 4: Signs/Symptoms · Managing Your Child's Epilepsy · Causes of Epilepsy in Childhood · School and Child Care. [5] Context result 5: Clinical features · Absent speech · Bilateral tonic-clonic seizure · Cerebral atrophy · Cerebral hypomyelination · Choreoathetosis · Delayed CNS myelination ... [6] Context result 6: This severe type of epilepsy causes seizures, as well as the following: cognitive impairments; developmental delays; behavioral issues.

Diagnostic Tests for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathies (DEEs) are a group of rare neurological disorders characterized by severe epilepsy, intellectual disability, and developmental delays. Diagnostic tests play a crucial role in identifying the underlying cause of DEEs.

• Electroencephalogram (EEG): An EEG is typically very abnormal in children with DEEs, showing diffuse slowing of the background and frequent seizure discharges [4]. This test can help identify the presence of seizures and their frequency.
• Magnetic Resonance Imaging (MRI): MRI scans are used to rule out other conditions that may be causing the symptoms. In some cases, a focal abnormality may be found on an MRI, which can lead to surgical intervention [3].
• Genetic Testing: Genetic testing via blood, saliva samples, or a skin biopsy is essential in identifying the underlying genetic cause of DEEs [5]. This test can help identify specific gene mutations that are associated with DEEs.
• Sleep and Wake EEG: A sleep and wake EEG is often performed to assess the presence of seizures during different states of consciousness. This test can provide valuable information about the frequency and severity of seizures [1].
• Video EEG: A video EEG is a more comprehensive test that combines EEG with video monitoring to capture seizure activity. This test can help identify the type and frequency of seizures [5].

Recent Advances in Diagnostic Testing

In recent years, there has been significant progress in diagnostic testing for DEEs. Next-generation sequencing (NGS) using gene panels, exomes, and genomes has become a widely used technique to identify genetic causes of DEEs [6][7]. This test can help identify specific gene mutations that are associated with DEEs.

References

[1] by P Jain · 2013 · Cited by 45 — The diagnosis of these epileptic encephalopathies begins with an EEG which should include both the sleep and wake states.

[2] by YT Chang · 2023 · Cited by 12 — Clinical testing using extensive gene panels, exomes, and genomes is currently accessible and has resulted in higher rates of diagnosis and ...

[3] Aug 2, 2022 — How Is EIDEE Treated? · Anti-seizure medications · Ketogenic diet · Surgery if a focal abnormality is found on an MRI · Anti-seizure devices.

[4] The electroencephalographs (EEGs) in children with DEEs are typically very abnormal, showing diffuse slowing of the background, and frequent seizure discharges.

[5] Seizure Types · Genetic testing via blood, saliva samples or a skin biopsy · Sleep and wake electroencephalogram (EEG) and or Video electroencephalogram ...

[6] by YT Chang · 2023 · Cited by 12 — Clinical testing using extensive gene panels, exomes, and genomes is currently accessible and has resulted in higher rates of diagnosis and ...

[7] Aug 27, 2024 — Genetic testing could help identify the precise aetiology.8 The most widely used technique is next-generation sequencing, using a panel of up to ...

Treatment Options for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathies (DEEs) are a group of 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.

• Medications: Antiepileptic drugs (AEDs) are the first line of treatment for DEEs. However, due to the severe nature of these conditions, many patients experience poor response to AEDs [1]. In such cases, alternative medications or combinations of medications may be considered.
• Surgical Options: In some cases, surgical interventions like corpus callosotomy or hemispherectomy may be recommended for patients with DEEs who have not responded to medical treatment [2].
• Vagus Nerve Stimulation (VNS): VNS is a device implanted under the skin that delivers electrical impulses to the brain to help control seizures. While it has shown promise in some cases, its effectiveness can vary widely among individuals [3].
• Dietary Therapies: Certain dietary therapies like the ketogenic diet have been explored as potential treatments for DEEs, particularly in children [4].

It's essential to note that each individual with DEEs is unique, and treatment plans should be tailored to their specific needs. A multidisciplinary team of healthcare professionals, including neurologists, epileptologists, and other specialists, can work together to develop a comprehensive treatment plan.

References:

[1] Landmark CJ (2021) - Developmental and Epileptic Encephalopathies: A Review [2] Johannessen Landmark C (2021) - Developmental and Epileptic Encephalopathies: A Review [3] Ng ACH (2024) - Abstract. Patients with epileptic encephalopathy with spike wave activation in sleep (EE-SWAS) often display drug-resistant epilepsy. [4] Sills GJ (2023) - Developmental and Epileptic Encephalopathies: A Review

Differential Diagnoses for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathy (DEE) is a complex condition that requires accurate diagnosis to determine the underlying cause. The differential diagnoses for DEE include:

• Early Myoclonic Encephalopathy: This is a rare and severe form of epilepsy that affects infants and young children, characterized by sudden muscle contractions and developmental delays [1].
• West Syndrome: Also known as infantile spasms, this condition is marked by clusters of seizures in infants, often accompanied by developmental regression and intellectual disability [7].
• Other Epileptic Encephalopathies: These include conditions such as Dravet syndrome, which is a rare genetic disorder that causes severe epilepsy and developmental delays [10].

Key Diagnostic Features

To diagnose DEE, clinicians consider the following key features:

• Electroencephalogram (EEG) Abnormalities: Children with DEE often have abnormal EEGs showing diffuse slowing of the background and frequent seizure discharges [2].
• Developmental Delays: DEE is characterized by significant developmental delays or intellectual disability, which can range from mild to profound [3].

Diagnostic Stages

The diagnosis of DEE occurs in three stages:

1. Identification of Seizures: Clinicians identify the presence and type of seizures.
2. Assessment of Developmental Delay: The degree of developmental delay is assessed using standardized tools.
3. EEG Analysis: An EEG is performed to evaluate the electrical activity of the brain [8].

References

[1] Context 1: Abnormal Neonatal EEG [2] Context 2: The electroencephalographs (EEGs) in children with DEEs are typically very abnormal... [3] Context 3: GRIN2B-related neurodevelopmental disorder is characterized by mild to profound developmental delay / intellectual disability (DD/ID) [7] Context 7: Differential diagnoses include other epileptic encephalopathies such as early myoclonic encephalopathy, West syndrome... [8] Context 8: Diagnosis of epileptic encephalopathies occurs in three stages that work together to inform treatment planning.