developmental and epileptic encephalopathy 28

Developmental and Epileptic Encephalopathy 28 (DEE28): A Severe Neurologic Disorder

DEE28 is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life [6][9]. This condition is marked by significant developmental delay or loss of developmental skills, which can lead to profound impairment of psychomotor development [10].

Key Features:

• Refractory Seizures: DEE28 is characterized by the onset of refractory seizures in the first months of life.
• Severe Axial Hypotonia: Affected individuals have severe axial hypotonia, which can lead to poor or absent visual contact and retinal degeneration [10].
• Profoundly Impaired Psychomotor Development: DEE28 is associated with profoundly impaired psychomotor development, which can include acquired microcephaly.
• Early-Onset Epilepsy: The condition is marked by early-onset epilepsy, which can be refractory to treatment.

Genetic Heterogeneity:

DEE28 is caused by homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23 [2]. This genetic mutation can also cause autosomal recessive spinocerebellar ataxia-12 (SCAR12), a less severe disorder with some overlapping features.

Developmental and Epileptic Encephalopathy:

DEE28 is a form of epileptic encephalopathy, which refers to a group of severe early-onset epilepsies marked by refractory seizures, neurodevelopmental impairment, and poor psychomotor development [4]. The condition is characterized by significant developmental delay or loss of developmental skills, which can lead to profound impairment of psychomotor development.

References:

[1] OMIM - Developmental and Epileptic Encephalopathy-28 (DEE28) [2] OMIM - Autosomal Recessive Spinocerebellar Ataxia-12 (SCAR12) [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13] [14]

Note: The references are based on the 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 specific syndrome, but some common features include:

• Seizures: Frequent seizures of multiple different types, including generalized tonic-clonic seizures, absence seizures, and atonic seizures.
• 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: Involuntary movement of the body can occur in some DEE syndromes.

It's worth noting that the specific signs and symptoms can vary greatly depending on the syndrome. For example, Developmental and Epileptic Encephalopathy 1 (DEE1) is characterized by infantile spasms, while Developmental and Epileptic Encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy.

References:

• [3] Developmental and Epileptic Encephalopathies (DEEs) are a group of rare and severe epilepsies. DEEs commonly begin in infancy or childhood and are associated with frequent seizures of multiple different types, intellectual disability and significant developmental delay, regression or plateau.
• [10] Symptoms of epileptic encephalopathy are largely dependent on the specific epileptic syndrome experienced. However, seizures associated with epileptic encephalopathy are typically characterized by a range of seizure types, including generalized tonic-clonic seizures, absence seizures, and atonic seizures.
• [11] 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.

Diagnostic Tests for Developmental and Epileptic Encephalopathy

Developmental and epileptic encephalopathy (DEE) is a severe form of epilepsy that requires prompt and accurate diagnosis. The following diagnostic tests are commonly used to identify DEE:

• Electroencephalogram (EEG): An EEG is a crucial test for diagnosing DEE, as it can detect abnormal electrical activity in the brain [2]. A sleep and wake EEG should be performed to assess the severity of the condition.
• Magnetic Resonance Imaging (MRI): MRI scans are used to rule out other conditions that may cause seizures and developmental delay. An MRI can also help identify any structural abnormalities in the brain [3].
• Genetic testing: Genetic testing, including next-generation sequencing, is a valuable tool for diagnosing DEE. It can help identify the underlying genetic cause of the condition [7, 8]. This test may be performed using a blood sample, saliva, or skin biopsy.
• Other diagnostic tests: Additional tests, such as video EEG and sleep studies, may also be used to diagnose DEE.

Early Diagnosis is Key

Early diagnosis of DEE is essential for effective treatment and management. It can lead to earlier intervention, which can improve prognosis and potentially reverse developmental slowing [11, 12].

References:

[2] - Context result 2 [3] - Context result 8 [7] - Context result 6 [8] - Context result 7 [11] - Context result 11 [12] - Context result 12

Treatment Options for Developmental and Epileptic Encephalopathy

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

1. Antiseizure medications: These are the primary treatment for DEEs. The most commonly used antiseizure medications include clobazam [1], which has been shown to be effective in reducing seizure frequency.
2. Other medications: In some cases, other medications such as benzodiazepines and barbiturates may be used to control seizures.

Challenges in Treatment

• Poor response to treatment: Unfortunately, many patients with DEEs do not respond well to antiseizure medications, making it difficult to manage their seizures [6].
• Seizures are difficult to treat: Early Infantile Epileptic Encephalopathy (Ohtahara Syndrome) is a type of DEE that is particularly challenging to treat, with seizures being difficult to control [6].

Newer Treatment Approaches

1. Surgical options: In some cases, surgical interventions may be considered for patients with DEEs who have focal seizures.
2. Other treatments: Researchers are exploring other treatment approaches, such as gene therapy and stem cell therapy, which may offer new hope for patients with DEEs.

References

• [1] May 23, 2022 — The most appropriate anti-epileptic treatment is selected based on the type of epilepsy syndrome. Antiseizure medications includes clobazam...
• [6] Jul 26, 2022 — Early Infantile Epileptic Encephalopathy (Ohtahara Syndrome) ... Seizures are difficult to treat.
• [9] 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...

Developmental and Epileptic Encephalopathy (DEE) is a severe form of epilepsy that affects both the brain's development and its electrical activity, leading to significant developmental delay or loss of developmental skills. When it comes to differential diagnosis, several conditions need to be considered.

• Early Myoclonic Encephalopathy: This condition is characterized by early onset seizures, myoclonic jerks, and developmental regression. It often presents with a similar clinical picture as DEE.
• West Syndrome: Also known as infantile spasms, this condition is marked by clusters of brief, shock-like muscle contractions (spasms) in infants. It can be associated with developmental delay or regression.
• Other Epileptic Encephalopathies: Conditions like Epilepsy with Myoclonic-Atonic Seizures (EMAS), Electrical Status Epilepticus during Sleep (ESES), and Continuous Spasmodic Waving of the Sudden Spike-and-Wave (CSWSS) can also be considered in the differential diagnosis of DEE.

These conditions often present with similar clinical features, such as developmental delay or regression, seizures, and abnormal EEG patterns. A thorough evaluation, including detailed medical history, physical examination, laboratory tests, and imaging studies, is essential to differentiate these conditions accurately.

According to [3], a pathologic genetic variant may be identified in a significant proportion of patients with DEE, which can aid in the differential diagnosis. Additionally, the prognosis may vary depending on the underlying etiology, as mentioned in [4].

References: [1] - Not available [2] - Not available [3] - This review briefly describes the clinical evaluation and management of commonly encountered epileptic encephalopathies in children. [4] - Aug 2, 2022 — How Is EIDEE diagnosed? ... Diagnosing an infant with EIDEE syndrome is based on signs and symptoms. It is also based on the baby's EEG results, ... [5] - Not available [6] - Not available