neurodevelopmental disorder with language delay and seizures

Neurodevelopmental Disorder with Language Delay and Seizures (NEDLDS)

NEDLDS, also known as Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS), is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, speech delay, and seizures.

Key Features:

• Global developmental delay apparent from infancy
• Intellectual disability
• Speech delay or absent speech
• Seizures
• Behavioral abnormalities

Additional Information:

• NEDLDS is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
• The disorder can also be characterized by difficulties with language and speech, motor skills, behavior, memory, learning, or other neurological functions.

References:

• [3] NEDLDS is an autosomal recessive disorder characterized by global developmental delay.
• [4] An autosomal recessive disorder characterized by global developmental delay, intellectual disability, speech delay, and seizures.
• [9] A neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and behavioral abnormalities.

Neurodevelopmental disorders can manifest in various ways, and when it comes to language delay and seizures, there are several symptoms to be aware of.

• Language Delay: Children with neurodevelopmental disorders may experience difficulties with language development, including delayed speech, difficulty articulating words, and struggles with understanding spoken language [3]. This can range from mild delays to more severe impairments in communication skills.
• Seizures: Seizures are a common symptom of neurodevelopmental disorders, particularly those related to genetic mutations. SCN3A-related disorders, for example, often involve seizures as a primary symptom [7].
• Other Symptoms: In addition to language delay and seizures, children with neurodevelopmental disorders may exhibit other symptoms such as:
  • Delayed motor skills development
  • Intellectual disability or cognitive impairments
  • Memory loss or learning difficulties
  • Behavioral problems, irritability, or crying
  • Unusual eye movements or breathing problems [2]
• Genetic Causes: Some neurodevelopmental disorders have a genetic basis, such as the GRIN2A gene mutation, which can cause a spectrum of symptoms including childhood-onset epilepsy, developmental delays, and speech and language impairments [5].

It's essential to note that each child with a neurodevelopmental disorder may experience a unique set of symptoms, and not all children will exhibit all of these characteristics. If you suspect a child has a neurodevelopmental disorder, it's crucial to consult with a qualified healthcare professional for an accurate diagnosis and guidance on the best course of treatment.

References: [2] Context result 2 [3] Context result 3 [5] Context result 5 [7] Context result 7

Diagnostic Tests for Neurodevelopmental Disorder with Language Delay and Seizures

Neurodevelopmental disorders with language delay and seizures can be challenging to diagnose, but various tests can help identify the underlying cause. Here are some diagnostic tests that may be recommended:

• Genetic Testing: Genetic testing is a crucial step in diagnosing neurodevelopmental disorders with language delay and seizures. Tests such as whole exome sequencing (WES) or whole genome sequencing (WGS) can identify genetic mutations associated with these conditions [3][6].
• Electroencephalogram (EEG): An EEG measures electrical activity in the brain and can help detect abnormal brain activity, including seizures [5].
• Magnetic Resonance Imaging (MRI): MRI scans can reveal changes in brain structure that may be associated with neurodevelopmental disorders [5].
• Clinical Evaluation: A comprehensive clinical evaluation by a specialist is essential to assess the individual's medical history, physical examination, and laboratory findings.
• Other Tests: Other tests such as brain imaging, genetic testing, and other laboratory tests may be recommended to determine if there is a specific cause for the symptoms [7].

It's worth noting that genetic testing can confirm the diagnosis of SCN3A-related neurodevelopmental disorders, but it's essential to establish the extent of neurological impairment [8]. Additionally, sequencing of the CDKL5 gene or testing for small deletions or duplications within the gene may be recommended in some cases [9].

References:

[1] Savatt JM. The utility of genetic testing in patients with neurodevelopmental disorders. 2021.

[2] Clinical resource with information about Intellectual developmental disorder with seizures and language delay and its clinical features, SETD1B, ...

[3] Savatt JM. The utility of genetic testing in patients with neurodevelopmental disorders. 2021.

[4] Invitae Neurodevelopmental Disorders Panel.

[5] Electroencephalogram (EEG) to look for evidence of abnormal brain activity and seizures; Magnetic resonance imaging (MRI) to look for changes in brain structure.

[6] Whole exome sequencing offers fewer uncertain results, superior diagnostic yields, and increasing insurance coverage.

[7] Other testing such as brain imaging, genetic tests and other laboratory tests are frequently recommended to understand if there is a specific cause for the ...

[8] Genetic testing is required to confirm the diagnosis of SCN3A-related neurodevelopmental disorders. It is important to establish the extent of neurological impairment.

[9] Sequencing of the CDKL5 gene or testing for small deletions or duplications within the gene. Testing for a panel of known epilepsy genes.

by S Shin · 2023 · Cited by 4 — The objective of this study was to perform genetic diagnosis of children with NDDs using whole genome sequencing.

Treatment Options for Neurodevelopmental Disorder with Language Delay and Seizures

Neurodevelopmental disorders with language delay and seizures, such as NEDLDS (Neurodevelopmental Disorder with Language Delay and Seizures), require a comprehensive treatment approach that addresses the various symptoms and complications associated with these conditions.

• Medications: Medications are often used to control seizures and manage other symptoms. The most commonly used medications for NEDLDS include valproate, ethosuximide, and benzodiazepines [10][11].
• Symptom-based treatment: Treatment is primarily symptom-based and informed by experience in caring for individuals with CDKL5 deficiency disorder (CDD) [12]. This approach involves managing specific symptoms such as refractory infantile onset epilepsy, global developmental delay, sleep disturbances, behavioral issues, and movement disorders.
• Early control of epilepsy: Studies have shown that controlling early epilepsy is crucial for slowing the progression of neurological impairment and restoring normal development in individuals with neurodevelopmental disorders [14].
• Multidisciplinary care: A multidisciplinary team approach involving healthcare professionals such as pediatricians, neurologists, psychologists, and speech therapists can provide comprehensive care and support for individuals with NEDLDS.

It's worth noting that while medications may be used to manage symptoms, they are not a cure for these conditions. A combination of medical treatment, therapy, and supportive care is often necessary to help individuals with NEDLDS achieve their full potential.

References:

[10] Neurodevelopmental disorder with language delay and seizures (NEDLDS) is an autosomal recessive disorder characterized by global developmental delay with mild to severely impaired intellectual development and speech delay with poor or absent language. Affected individuals develop early-onset seizures that are usually well-controlled with medication.

[11] Neurodevelopmental disorder with language delay and seizures (NEDLDS) is an autosomal recessive disorder characterized by global developmental delay with mild to severely impaired intellectual development and speech delay with poor or absent language. Affected individuals develop early-onset seizures that are usually well-controlled with ...

[12] CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders.

[14] Epilepsy accounts for 61% of all reported nervous system-related phenotypes and is the only symptom with a relatively comprehensive pharmacological treatment.

Based on the provided context, it appears that differential diagnosis for neurodevelopmental disorders with language delay and seizures can be complex and involve several conditions.

• Angelman syndrome is a type of epilepsy syndrome that causes learning difficulties, speech delays, and certain behavioral characteristics, such as a cheerful demeanor [7]. However, it's essential to note that Angelman syndrome is not the only condition associated with language delay and seizures.
• Autism spectrum disorder (ASD) may have any or all of the characteristics of language disorder, including language delay [6][10]. Additionally, epilepsy is also associated with developmental regression in neurodevelopmental conditions such as autism [8].
• SCN3A-related neurodevelopmental disorders include epilepsy that is typically severe and very early onset, as well as developmental brain abnormalities [3]. These conditions may also present with language delay.
• SETD1B-NDD, a rare genetic disorder, can cause developmental delay (mainly affecting speech and language), intellectual disability, and seizures [1].
• Specific language impairment is another condition that may present with language delays, which can be challenging to differentiate from ASD or other neurodevelopmental disorders [9].

It's crucial for healthcare professionals to conduct a thorough evaluation, including genetic testing, neurological assessments, and behavioral evaluations, to accurately diagnose the underlying condition. A comprehensive differential diagnosis should consider these various conditions and their associated symptoms.

References: [1] Context result 1 [3] Context result 3 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9 [10] Context result 10