developmental and epileptic encephalopathy 23

Developmental and Epileptic Encephalopathy 23 (DEE23)

Developmental and Epileptic Encephalopathy 23, also known as DEE23, is a rare autosomal recessive neurologic disorder characterized by the onset of intractable seizures in early childhood. This condition is marked by severe developmental delays, intellectual disability, and cortical blindness.

Key Features:

• Intractable Seizures: DEE23 is characterized by the presence of intractable seizures that are resistant to treatment.
• Developmental Delays: Children with DEE23 experience significant developmental delays, including delayed speech and language development.
• Intellectual Disability: Individuals with DEE23 often have intellectual disability, which can range from mild to severe.
• Cortical Blindness: Cortical blindness is a common feature of DEE23, where individuals may have difficulty seeing or perceiving visual information.

References:

• [1] Developmental and epileptic encephalopathy-23 (DEE23) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the early childhood. [2]
• [3] A severe disease characterized by early-onset intractable epilepsy, dysmorphic features, intellectual disability, and cortical blindness. Brain imaging shows an abnormal brain structure. [4]
• [5] Developmental and epileptic encephalopathy-23 (DEE23) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the early childhood. [6]

Note: The information provided above is based on the search results and may not be a comprehensive or definitive description of DEE23.

Developmental and Epileptic Encephalopathy (DEE) is a severe seizure disorder that affects children, typically presenting in infancy or early childhood. The signs and symptoms of DEE can vary from child to child but often include:

• Frequent seizures: Children with DEE may experience multiple types of seizures, including tonic-clonic, atonic, and myoclonic seizures [1].
• Intellectual disability: Many children with DEE have significant intellectual disabilities, which can range from mild to severe [3].
• Developmental delays: Children with DEE often experience developmental delays, particularly in areas such as speech, language, and motor skills [2].
• Behavioral issues: Some children with DEE may exhibit behavioral problems, including hyperactivity, aggression, and anxiety [6].
• Cognitive impairments: DEE can lead to significant cognitive impairments, affecting a child's ability to learn, remember, and problem-solve [6].

It is essential to note that the severity and progression of DEE can vary greatly from one child to another. Early diagnosis and treatment are crucial in managing the condition and minimizing its impact on a child's development.

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... [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 (DEE)

Developmental and Epileptic Encephalopathy (DEE) is a complex condition that requires comprehensive diagnostic testing to determine its underlying causes. The following tests are commonly used to diagnose DEE:

• Electroencephalogram (EEG): An EEG is typically the first test ordered to evaluate the electrical activity of the brain in children with DEEs. The EEGs in these children are usually very abnormal, showing diffuse slowing of the background and frequent seizure discharges [4].
• Magnetic Resonance Imaging (MRI): MRI scans can help identify any structural abnormalities in the brain that may be contributing to the condition.
• Genetic testing: Genetic testing via blood, saliva samples or a skin biopsy can help identify genetic mutations that may be causing DEE. Clinical testing using extensive gene panels, exomes, and genomes is currently accessible and has resulted in higher rates of diagnosis and treatment [2].
• Sleep and wake electroencephalogram (EEG) and/or Video EEG: These tests can provide more detailed information about the brain's electrical activity during sleep and wakefulness.
• Molecular testing: Molecular testing can facilitate the diagnosis of the aetiology of the DEE by identifying specific genetic mutations or other molecular abnormalities [9].

In addition to these diagnostic tests, treatment for DEE may involve:

• Anti-seizure medications
• Ketogenic diet
• Surgery if a focal abnormality is found on an MRI
• Anti-seizure devices

It's worth noting that genetic testing could help identify the precise aetiology of DEE, and next-generation sequencing using a panel of up to 100 genes is the most widely used technique [7].

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 primary treatment for DEEs. However, response to medication can be poor, and seizures may be difficult to control [1][2]. Commonly used AEDs include phenobarbital, valproate, and levetiracetam.
• Surgical Options: In some cases, surgical intervention may be considered to remove the seizure focus or to implant a vagus nerve stimulator (VNS) [3].
• Dietary Therapies: The ketogenic diet has been shown to be effective in reducing seizures in some individuals with DEEs [4].
• Other Interventions: Other treatment options, such as transcranial magnetic stimulation (TMS), have also been explored for their potential benefits in managing DEEs.

It's essential to note that each individual with DEEs may respond differently to these treatment options. A comprehensive treatment plan should be developed in consultation with a healthcare professional, taking into account the unique needs and circumstances of the patient.

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 function. When considering differential diagnoses, it's essential to understand the underlying causes and characteristics of DEE.

• Other Epileptic Encephalopathies: Differential diagnoses include other forms of epileptic encephalopathy, such as early myoclonic encephalopathy, West syndrome, and other early onset epileptic encephalopathies [6].
• Developmental Encephalopathy: This condition implies that developmental delays are a direct result of the underlying cause of epilepsy. Some children with DEE may also experience developmental regression [3].
• Genetic Variants: A significant proportion of patients with DEE have a pathologic genetic variant, which can be identified in many cases. The prognosis may depend on the etiology, and some gene variants, such as KCNQ2-DEE, are associated with specific forms of DEE [2].
• Absence Seizures: Absence seizures can be a feature of DEE, particularly in patients with genetic variants that affect neuronal function.
• Aphasia and Autism Spectrum Disorder: Some individuals with DEE may also experience aphasia or autism spectrum disorder, which can further impact cognitive and behavioral function.

Key Considerations

When differentiating between various forms of epileptic encephalopathy, it's crucial to consider the following factors:

• The presence and severity of developmental delays
• The type and frequency of seizures
• Any underlying genetic variants or other medical conditions
• The impact on cognitive and behavioral function

References

[1] Jul 26, 2022 — Differential Diagnoses. Abnormal Neonatal EEG · Absence Seizures · Acquired Epileptic Aphasia · Aphasia · Autism Spectrum Disorder. [6] Jul 15, 2022 — We divide on the science, but we unite on everything else as it relates to the developmental and epileptic encephalopathy including Dravet, ... [14] 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 child …