developmental and epileptic encephalopathy 91

Developmental and Epileptic Encephalopathy (DEE)

Developmental and epileptic encephalopathy (DEE) is a group of severe epilepsies characterized by both seizures and significant developmental delay or loss of developmental skills. This condition typically begins in infancy or early childhood and is associated with frequent seizures, intellectual disability, and significant developmental regression or plateau.

Key Features:

• Seizures: Frequent seizures of multiple different types, often drug-resistant
• Developmental Delay: Significant developmental delay or loss of developmental skills
• Intellectual Disability: Associated with intellectual disability in many cases
• Early Onset: Typically begins in infancy or early childhood

Causes:

DEEs are a heterogeneous group of disorders, and the exact causes can vary. However, research suggests that genetic variants play a significant role in many cases. The neurobiological process behind DEE is complex and involves both seizure activity and interictal epileptiform activity.

Impact on Neurocognition:

The cognitive functions of individuals with DEE are influenced by both seizure and interictal epileptiform activity, leading to significant developmental delays or regression. Many DEEs are related to gene variants, and the onset is typically during early childhood.

References:

• [1] Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies... (Source: 1)
• The term "developmental and epileptic encephalopathy" (DEE) refers to when cognitive functions are influenced by both seizure and interictal epileptiform activity... (Source: 11)
• Epileptic encephalopathies often have a genetic etiology, and the epileptic activity itself exerts a direct detrimental effect on neurodevelopment... (Source: 12)

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

Developmental and Epileptic Encephalopathy (DEE) is a group of severe epilepsies that are characterized by both seizures and significant developmental delay or loss of developmental skills. The signs and symptoms of DEE can vary greatly depending on the syndrome, but some common features include:

• Seizures: Frequent seizures of multiple different types, including generalized tonic-clonic seizures, absence seizures, and infantile spasms.
• Developmental Delay: Significant delay or loss of developmental skills, such as speech, language, and motor skills.
• Intellectual Disability: Intellectual disability is a common feature in many DEE syndromes.
• Reduced Muscle Tone (Hypotonia): Reduced muscle tone can be present in some DEE syndromes.
• Abnormal EEG Patterns: Abnormal electroencephalogram (EEG) patterns, such as hypsarrhythmia, are often seen in DEE.
• Dyskinesia and Spasticity: Involuntary movement of the body (dyskinesia) and spastic di- or quadriplegia can also be present.

It's worth noting that the specific signs and symptoms can vary greatly depending on the syndrome, and some syndromes may have additional features not listed here. [1][3][4][6][11]

References: [1] Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies... (Search Result 3) [3] Symptoms of epileptic encephalopathy vary greatly depending on the syndrome. However, several epileptic encephalopathy syndromes share symptoms, including: ... Developmental and epileptic... (Search Result 4) [4] Clinical features · Absent speech · Bilateral tonic-clonic seizure · Cerebral atrophy · Cerebral hypomyelination · Choreoathetosis · Delayed CNS myelination ... (Search Result 6) [6] Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. ... Developmental and epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which... (Search Result 11) [11] Indeed, behavioural and psychiatric symptoms can be even more ... (Search Result 12)

Diagnostic Tests for Developmental and Epileptic Encephalopathy (DEE)

Developmental and Epileptic Encephalopathy (DEE) is a group of severe epilepsies that require accurate diagnosis to ensure effective management. The diagnostic tests used to identify causes of DEE include:

• Electroencephalogram (EEG): A test used to measure the electrical activity of the brain, which can show characteristic results in most babies with DEE1 [1].
• Magnetic Resonance Imaging (MRI): An imaging technique that can help identify focal abnormalities in the brain, which may be treated with surgery [4].
• Genetic testing: A valuable diagnostic tool for detecting gene mutations in DEEs, including next-generation sequencing (NGS) using a panel of up to 100 genes [7][8]. This test can help identify the precise aetiology of DEE.
• Sleep and wake EEG: A combination of EEG tests that can be used to diagnose DEE, especially in infants [3].
• Video electroencephalogram (VEEG): An EEG test that records both electrical activity and video images of the brain, which can help identify seizure types and patterns [6].

These diagnostic tests are crucial for accurate diagnosis and effective management of DEEs. A combination of clinical investigations is generally used to achieve diagnostic accuracy [5]. Molecular testing can also facilitate the diagnosis of the aetiology of DEE by identifying epilepsy syndromes characterized by age of onset, seizure types, and other factors [9].

References: [1] Context 1 [3] Context 3 [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8 [9] Context 9

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, response to medication can be poor, and seizures may be difficult to control [1]. A variety of AEDs have been tried, including valproate, levetiracetam, and topiramate [2].
• Surgical Options: In some cases, surgical intervention may be considered for patients with DEEs. This can include epilepsy surgery or other procedures aimed at reducing seizure frequency [3].
• Dietary Therapies: Dietary therapies, such as the ketogenic diet, have been explored as potential treatments for DEEs. These diets involve a strict regimen of high-fat, low-carbohydrate foods that can help reduce seizures in some individuals [4].

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

References:

[1] May 23, 2022 — Developmental and Epileptic Encephalopathy (DEE) refers to a group of severe epilepsies that are characterized both by seizures, which are often drug-resistant...

[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...

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

[4] by I Bertocchi · 2023 · Cited by 11 — Developmental and epileptic encephalopathies are childhood syndromes of severe epilepsy associated with cognitive and behavioral disorders.

Differential Diagnoses for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathy (DEE) is a severe form of epilepsy that affects cognitive and behavioral functions. When diagnosing DEE, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses to consider:

*