4 free views remaining today
developmental and epileptic encephalopathy 110
Description
Developmental and Epileptic Encephalopathies (DEEs): A Complex Condition
Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies that commonly begin in infancy or childhood [1]. This condition is characterized by a complex interplay between developmental delay/intellectual disability and epilepsy, which can lead to significant cognitive and behavioral impairments.
Key Features of DEEs
- Early-onset seizures: DEEs are typically marked by early-onset epileptic seizures, often accompanied by severe EEG abnormalities [6].
- Developmental delay: Individuals with DEEs often experience significant developmental delays or intellectual disability, which can be influenced by both seizure and interictal (between seizures) factors [3][8].
- Heterogeneous group of disorders: DEEs are a heterogeneous group of disorders, meaning that each individual's presentation can vary significantly [6].
Understanding the Complexity of DEEs
The term "developmental and epileptic encephalopathy" (DEE) refers to when cognitive functions are influenced by both seizure and interictal factors. This complex relationship between epilepsy and developmental delay/intellectual disability is a hallmark of DEEs [3][8].
References:
[1] Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies that commonly begin in infancy or childhood. [2] A DEE is a complex concept that incorporates two facets: a developmental encephalopathy, which usually leads to intellectual disability, coupled with an epileptogenic process [2]. [3] The term "developmental and epileptic encephalopathy" (DEE) refers to when cognitive functions are influenced by both seizure and interictal factors [3][8]. [6] Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of disorders characterized by early-onset, often severe epileptic seizures and EEG abnormalities [6]. [7] Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of disorders characterized by early-onset, often severe epileptic seizures and EEG abnormalities [7].
Additional Characteristics
- Developmental delay
- Early-onset seizures
- Early-onset, often severe epileptic seizures and EEG abnormalities
- Heterogeneous group of disorders
- Cognitive functions influenced by seizure and interictal factors
Signs and Symptoms
Developmental and Epileptic Encephalopathy (DEE) 1 is a severe seizure disorder characterized by infantile spasms, intellectual disability, and significant developmental delays. The signs and symptoms of DEE 1 can vary from person to person but often include:
- Infantile Spasms: These are a type of seizure that typically occur in clusters or singly, lasting for several seconds to minutes [2].
- Developmental Delays: Children with DEE 1 often experience significant delays in cognitive and motor development, including delayed speech and language skills [3].
- Intellectual Disability: Many individuals with DEE 1 have intellectual disability, which can range from mild to severe [4].
- Seizure Frequency: Seizures are a hallmark of DEE 1 and can be frequent, occurring multiple times per day [5].
- Cognitive Impairments: Children with DEE 1 may experience cognitive impairments, including difficulties with attention, memory, and problem-solving [6].
It's essential to note that the clinical presentation of DEE 1 can vary widely among individuals, and not everyone will exhibit all of these signs and symptoms. A comprehensive diagnostic evaluation by a qualified healthcare professional is necessary for an accurate diagnosis.
References: [2] - #8 [3] - #3 [4] - #5 [5] - #6 [6] - #7
Additional Symptoms
- Developmental Delays
- Intellectual Disability
- Cognitive Impairments
- Infantile Spasms
- Seizure Frequency
Diagnostic Tests
Diagnostic Tests for Developmental and Epileptic Encephalopathy
Developmental and epileptic encephalopathies (DEEs) are a group of rare genetic disorders that affect brain development and function. Diagnostic tests play a crucial role in identifying the underlying cause of DEE, which is essential for providing appropriate treatment and management.
Electroencephalogram (EEG)
- An EEG is typically used to diagnose DEE, particularly in children.
- The test measures the electrical activity of the brain and can show characteristic patterns associated with DEE. [1]
- In most babies with DEE1, an EEG shows characteristic results, indicating diffuse slowing of the background and frequent seizure discharges. [4]
Magnetic Resonance Imaging (MRI)
- MRI is another diagnostic test used to identify causes of DEE.
- It can help rule out other conditions that may be causing symptoms.
Genetic Testing
- Genetic testing has become a valuable tool in diagnosing DEE, particularly with the advancement of next-generation sequencing (NGS) technology.
- Targeted NGS gene panel testing has proven efficient in detecting the genetic basis of DEE in a large proportion of cases. [8]
- Genetic testing can help identify the precise cause of DEE and is useful in differential diagnosis. [9]
Other Diagnostic Tests
- Other tests that may be considered include clinical testing using extensive gene panels, exomes, and genomes.
- These tests have resulted in higher rates of diagnosis and management of DEE. [2]
- Genetic testing could help identify the precise aetiology of DEE, and next-generation sequencing is the most widely used technique. [7]
References
[1] P Jain (2013) - The diagnosis of these epileptic encephalopathies begins with an EEG which should include both the sleep and wake states.
[2] YT Chang (2023) - Clinical testing using extensive gene panels, exomes, and genomes is currently accessible and has resulted in higher rates of diagnosis and management of DEE.
[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 of DEE. The most widely used technique is next-generation sequencing, using a panel of up to 100 genes.
[8] F Essajee (2022) - 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 African patients.
[9] Nov 13, 2023 - Genetic testing is very useful in the differential diagnosis of hereditary epileptic encephalopathies. Prenatal diagnosis is possible in some cases.
Additional Diagnostic Tests
- Magnetic Resonance Imaging (MRI)
- Genetic Testing
- Targeted NGS gene panel testing
- Euroencephalogram (EEG)
- Clinical testing using extensive gene panels, exomes, and genomes
Treatment
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: Anticonvulsant medications are the first line of treatment for DEEs. However, due to the severity of the condition, many patients experience poor response to medication or develop resistance over time [1][2].
- Surgical Interventions: In some cases, surgical options such as corpus callosotomy may be considered for patients with severe and intractable seizures [3].
- Vagus Nerve Stimulation (VNS): VNS is a treatment option that involves implanting a device that delivers electrical impulses to the brain to help control seizures [4].
- Dietary Therapies: Some patients may benefit from dietary therapies such as the ketogenic diet, which can help reduce seizure frequency and severity [5].
It's essential to note that each patient with DEEs is unique, and treatment plans should be tailored to 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.
[5] Epileptic encephalopathies are an epileptic condition characterized by early-onset seizures. Learn everything you need to know at CHOC.org.
Recommended Medications
- Vagus Nerve Stimulation (VNS)
- Surgical options (corpus callosotomy)
- Dietary therapies (ketogenic diet)
- anticonvulsant
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
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 seizures and developmental regression in infants [7].
- Other Early Onset Epileptic Encephalopathies: These include conditions such as Othahara syndrome, early myoclonic encephalopathy, and others that present with similar symptoms to DEE [7].
Key Factors for Diagnosis
The diagnosis of DEE involves a three-stage process:
- Identification of Seizures: This stage involves the recognition of seizures and their characteristics.
- Assessment of Developmental Delay: This stage evaluates the extent of developmental delay or intellectual disability in affected individuals.
- Investigation of Underlying Cause: This final stage aims to determine the underlying cause of DEE, which may involve genetic testing, imaging studies, or other diagnostic procedures [8].
References
[1] Context 2: The EEGs in children with DEEs are typically very abnormal, showing diffuse slowing of the background, and frequent seizure discharges. [7] Context 7: Differential diagnoses include other epileptic encephalopathies such as early myoclonic encephalopathy, West syndrome (see these terms) and other early onset ... [8] Context 8: Diagnosis of epileptic encephalopathies occurs in three stages that work together to inform treatment planning. The diagnostic stages include identification of ...
Additional Differential Diagnoses
- Other Early Onset Epileptic Encephalopathies (including Othahara syndrome, early myoclonic encephalopathy)
- West syndrome
- early myoclonic encephalopathy
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0070395
- core#notation
- DOID:0070395
- oboInOwl#hasDbXref
- MIM:620149
- oboInOwl#hasExactSynonym
- early infantile epileptic encephalopathy 110
- rdf-schema#label
- developmental and epileptic encephalopathy 110
- IAO_0000115
- A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21.
- rdf-schema#subClassOf
- t349480
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_2267
- owl#annotatedSource
- t349677
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.