developmental and epileptic encephalopathy 81

Developmental and Epileptic Encephalopathy (DEE)

Developmental and Epileptic Encephalopathy (DEE) is a group of rare and severe epilepsies that are characterized by both seizures and significant developmental delay or loss of developmental skills. This condition typically begins in infancy or childhood and is associated with frequent seizures of multiple different types, intellectual disability, and significant developmental delay, 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: Intellectual disability is a common feature in many cases of DEE

Causes and Risk Factors:

• Genetic Variants: Many cases of DEE are related to gene variants that increase the susceptibility to epileptic seizures and cognitive deterioration.
• Early Childhood Onset: The onset of DEE is typically during early childhood, which can lead to significant developmental delays.

Subtypes and Related Conditions:

• Developmental Epilepsy: A subtype of DEE characterized by a specific type of seizure known as infantile spasms (DEE1)
• Hashimoto Encephalopathy: A steroid-sensitive epileptic encephalopathy that is not classified in this group but is worth mentioning
• Dravet Syndrome or Severe Myoclonic Epilepsy of Infancy: A severe form of epilepsy syndrome associated with developmental impairment

References:

• [1] Developmental and Epileptic Encephalopathies (DEEs) are a heterogeneous group of disorders characterized by early-onset, often severe epileptic seizures and EEG abnormalities. [7]
• [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. [11]
• [3] 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. [9]

Note: The above information is based on the search results provided and may not be an exhaustive list of all possible features, causes, and subtypes of Developmental and Epileptic Encephalopathy (DEE).

Developmental and Epileptic Encephalopathy (DEE) is a severe condition characterized by both seizures and significant developmental delay or regression. The signs and symptoms of DEE can vary depending on the specific syndrome, but here are some common ones:

• Seizures: Frequent seizures of multiple types, including tonic-clonic, absence, and atonic seizures.
• Developmental Delay/Regression: Significant delays or regression in cognitive, motor, and language skills.
• Intellectual Disability: Many individuals with DEE experience intellectual disability, ranging from mild to severe.
• Reduced Muscle Tone (Hypotonia): Weakness or floppiness of muscles, which can lead to difficulties with movement and balance.
• Hypsarrhythmia: An irregular pattern seen on EEG, which is a hallmark of DEE.
• Dyskinesia: Involuntary movements of the body, such as tremors or spasms.
• Spastic Di- or Quadriplegia: Weakness or paralysis of one or more limbs.

It's essential to note that these symptoms can vary in severity and may not be present in all individuals with DEE. Additionally, new symptoms and test results may raise a suspicion of DEE over time [13].

In some cases, DEE may also be associated with other conditions, such as:

• Systemic signs: Symptoms affecting multiple body systems, such as fever, vomiting, or diarrhea.
• Neurocutaneous syndromes: Conditions that affect the skin and nervous system, such as tuberous sclerosis complex.

Early recognition of these symptoms is crucial for providing timely intervention and improving outcomes in individuals with DEE [14].

Diagnostic Tests for Developmental and Epileptic Encephalopathy (DEE)

Developmental and epileptic encephalopathy (DEE) is a severe form of epilepsy that affects both brain development and function. Accurate diagnosis is crucial to determine the underlying cause and develop an effective treatment plan.

Several diagnostic tests can help identify DEE:

• Electroencephalogram (EEG): An EEG measures the electrical activity of the brain and can detect abnormal patterns associated with DEE. Most babies with DEE1 have characteristic results on an EEG [4].
• Magnetic Resonance Imaging (MRI): MRI scans can help identify structural abnormalities in the brain that may be contributing to DEE.
• Genetic testing: Genetic testing, including next-generation sequencing (NGS), can help identify genetic mutations that may be causing DEE. This is particularly useful for hereditary forms of DEE [7].
• Targeted NGS gene panel testing: Targeted NGS gene panel testing has proven to be an efficient diagnostic tool in detecting the genetic basis of DEE in a large proportion of cases [9].

Early diagnosis and intervention are critical in improving prognosis and potentially reversing developmental slowing. A comprehensive diagnostic approach, including these tests, can help identify the underlying cause of DEE and guide treatment decisions.

References:

[4] Nov 13, 2020 - Most babies with DEE1 have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. [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 ... [9] by F Essajee · 2022 · Cited by 13 — Targeted NGS gene panel testing proved an efficient diagnostic tool in the detection of the genetic basis of DEE in a large proportion of South.

Treatment Options for Developmental and Epileptic Encephalopathy (DEE)

Developmental and epileptic encephalopathy (DEE) is a rare and severe form of epilepsy that requires specialized treatment. While there are no cure-all treatments, various medications and therapies can help manage the condition.

• Conventional Antiepileptic Drugs: These are often used as a first-line treatment for DEE, but their effectiveness is limited due to the complex nature of the condition [10].
• Cannabidiol (CBD): Research has shown that CBD can be highly effective in treating drug-resistant seizures associated with DEE [7]. However, more studies are needed to fully understand its potential benefits.
• Orphan Drug Designation: The FDA has granted orphan drug designation to CAP-002, a treatment developed by Capsida Biotherapeutics, for the treatment of DEE due to syntaxin-binding protein 1 (STXBP1) mutations [13][14]. This designation indicates that the treatment may be effective in treating this specific form of DEE.

Important Considerations

• Early Treatment: Early intervention and treatment can significantly impact outcomes in patients with DEE. Research suggests that treating electrical status epilepticus in sleep and other syndromes prior to major loss of function can lead to better results [12].
• Limited Effectiveness: Conventional antiepileptic drugs may not be effective in managing DEE, highlighting the need for more research into alternative treatments.

References

[7] E Mannini · 2024 — Cannabidiol (CBD) has been shown to be highly effective in the treatment of drug-resistant seizures in patients with DEEs. [10] by GJ Sills · 2023 · Cited by 10 — Developmental and epileptic encephalopathies (DEEs) are rare neurodevelopmental disorders characterised by early-onset and often intractable seizures and ... [12] For example, it is believed that treating electrical status epilepticus in sleep and other syndromes prior to major loss of function will result in better outcomes. 15–17 Again, considering the goals of treatment for epileptic encephalopathies, it should come as no surprise that our conventional antiepileptic drugs are of limited benefit when ... [13] The FDA granted an orphan drug designation (ODD) to CAP-002 (Capsida Biotherapeutics) for the treatment of developmental and epileptic encephalopathy (DEE) because of syntaxin-binding protein 1 (STXBP1) mutations. [14] Research that was carried out by Baylor College of Medicine and Texas Children’s Hospital doctors have led to the U.S. Food and Drug Administration (FDA) granting Orphan Drug Designation to a treatment for developmental and epileptic encephalopathy (DEE) due to syntaxin-binding protein 1 (STXBP1) mutations. The treatment was developed by Capsida Biotherapeutics and called CAP-002.

Differential Diagnosis of Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathy (DEE) is a severe form of epilepsy that affects cognitive and behavioral functions. Differential diagnosis of DEE involves ruling out other conditions that may present with similar symptoms. Here are some key points to